Incidental Mutation 'R0617:Svil'
| ID |
58491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Svil
|
| Ensembl Gene |
ENSMUSG00000024236 |
| Gene Name |
supervillin |
| Synonyms |
B430302E16Rik |
| MMRRC Submission |
038806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R0617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4920540-5119299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5117002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2059
(S2059P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025079]
[ENSMUST00000126977]
[ENSMUST00000127297]
[ENSMUST00000131609]
[ENSMUST00000140448]
[ENSMUST00000210707]
[ENSMUST00000143254]
|
| AlphaFold |
Q8K4L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025079
AA Change: S2059P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: S2059P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1181 |
1191 |
N/A |
INTRINSIC |
|
GEL
|
1397 |
1496 |
4.58e-22 |
SMART |
|
GEL
|
1521 |
1638 |
4.03e-1 |
SMART |
|
GEL
|
1708 |
1818 |
2.93e-20 |
SMART |
|
low complexity region
|
1825 |
1831 |
N/A |
INTRINSIC |
|
GEL
|
1837 |
1938 |
1.72e-17 |
SMART |
|
GEL
|
1971 |
2078 |
1.37e0 |
SMART |
|
VHP
|
2135 |
2170 |
1.15e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125512
|
| SMART Domains |
Protein: ENSMUSP00000121972
Gene: ENSMUSG00000024236
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
168 |
178 |
N/A |
INTRINSIC |
|
GEL
|
384 |
483 |
4.58e-22 |
SMART |
|
GEL
|
508 |
625 |
4.03e-1 |
SMART |
|
Blast:GEL
|
695 |
733 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126977
AA Change: S2059P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: S2059P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1181 |
1191 |
N/A |
INTRINSIC |
|
GEL
|
1397 |
1496 |
4.58e-22 |
SMART |
|
GEL
|
1521 |
1638 |
4.03e-1 |
SMART |
|
GEL
|
1708 |
1818 |
2.93e-20 |
SMART |
|
low complexity region
|
1825 |
1831 |
N/A |
INTRINSIC |
|
GEL
|
1837 |
1938 |
1.72e-17 |
SMART |
|
GEL
|
1971 |
2078 |
1.37e0 |
SMART |
|
VHP
|
2135 |
2170 |
1.15e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127297
AA Change: S1945P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: S1945P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1067 |
1077 |
N/A |
INTRINSIC |
|
GEL
|
1283 |
1382 |
4.58e-22 |
SMART |
|
GEL
|
1407 |
1524 |
4.03e-1 |
SMART |
|
GEL
|
1594 |
1704 |
2.93e-20 |
SMART |
|
low complexity region
|
1711 |
1717 |
N/A |
INTRINSIC |
|
GEL
|
1723 |
1824 |
1.72e-17 |
SMART |
|
GEL
|
1857 |
1964 |
1.37e0 |
SMART |
|
VHP
|
2021 |
2056 |
1.15e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131609
|
| SMART Domains |
Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1181 |
1191 |
N/A |
INTRINSIC |
|
GEL
|
1397 |
1496 |
2.9e-24 |
SMART |
|
GEL
|
1521 |
1638 |
2.5e-3 |
SMART |
|
GEL
|
1708 |
1818 |
1.9e-22 |
SMART |
|
low complexity region
|
1825 |
1831 |
N/A |
INTRINSIC |
|
GEL
|
1837 |
1938 |
1.1e-19 |
SMART |
|
low complexity region
|
1965 |
1974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140448
AA Change: S2059P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: S2059P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1181 |
1191 |
N/A |
INTRINSIC |
|
GEL
|
1397 |
1496 |
4.58e-22 |
SMART |
|
GEL
|
1521 |
1638 |
4.03e-1 |
SMART |
|
GEL
|
1708 |
1818 |
2.93e-20 |
SMART |
|
low complexity region
|
1825 |
1831 |
N/A |
INTRINSIC |
|
GEL
|
1837 |
1938 |
1.72e-17 |
SMART |
|
GEL
|
1971 |
2078 |
1.37e0 |
SMART |
|
VHP
|
2135 |
2170 |
1.15e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210707
AA Change: S2146P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143254
AA Change: S1655P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236
AA Change: S1655P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
777 |
787 |
N/A |
INTRINSIC |
|
GEL
|
993 |
1092 |
4.58e-22 |
SMART |
|
GEL
|
1117 |
1234 |
4.03e-1 |
SMART |
|
GEL
|
1304 |
1414 |
2.93e-20 |
SMART |
|
low complexity region
|
1421 |
1427 |
N/A |
INTRINSIC |
|
GEL
|
1433 |
1534 |
1.72e-17 |
SMART |
|
GEL
|
1567 |
1674 |
1.37e0 |
SMART |
|
VHP
|
1731 |
1766 |
1.15e-18 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146723
AA Change: S163P
|
| SMART Domains |
Protein: ENSMUSP00000115591
Gene: ENSMUSG00000024236
AA Change: S163P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GEL
|
2 |
37 |
1e-17 |
BLAST |
|
SCOP:d1d0na6
|
53 |
168 |
3e-19 |
SMART |
|
Blast:GEL
|
63 |
169 |
1e-72 |
BLAST |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
98% (130/133) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 130 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
A |
T |
8: 49,953,527 (GRCm39) |
|
noncoding transcript |
Het |
| A630073D07Rik |
T |
C |
6: 132,603,700 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
G |
A |
7: 120,032,834 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,170,515 (GRCm39) |
D1265E |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,272,079 (GRCm39) |
V312I |
probably benign |
Het |
| Abhd12 |
T |
A |
2: 150,688,285 (GRCm39) |
|
probably null |
Het |
| Adam23 |
A |
G |
1: 63,582,306 (GRCm39) |
H318R |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,400,078 (GRCm39) |
T972A |
probably benign |
Het |
| Adipoq |
T |
A |
16: 22,974,160 (GRCm39) |
D62E |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
| Arap2 |
AT |
ATT |
5: 62,807,250 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
G |
T |
13: 98,106,863 (GRCm39) |
T687K |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,987,401 (GRCm39) |
D76E |
probably benign |
Het |
| Atm |
A |
T |
9: 53,370,241 (GRCm39) |
Y2290* |
probably null |
Het |
| Atrn |
T |
A |
2: 130,837,005 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,984,439 (GRCm39) |
E3205G |
unknown |
Het |
| Cacna1c |
T |
C |
6: 118,579,174 (GRCm39) |
Y1599C |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,133,630 (GRCm39) |
D590G |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,079,623 (GRCm39) |
|
probably null |
Het |
| Ccdc97 |
G |
A |
7: 25,413,845 (GRCm39) |
R279C |
probably damaging |
Het |
| Ccm2l |
A |
G |
2: 152,912,820 (GRCm39) |
T120A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,665,512 (GRCm39) |
|
probably benign |
Het |
| Cfh |
A |
G |
1: 140,028,621 (GRCm39) |
S1043P |
probably benign |
Het |
| Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
| Cib2 |
T |
C |
9: 54,461,780 (GRCm39) |
D26G |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,019,881 (GRCm39) |
V84A |
probably damaging |
Het |
| Csn3 |
T |
C |
5: 88,077,730 (GRCm39) |
Y79H |
probably benign |
Het |
| Ddx47 |
T |
A |
6: 134,994,085 (GRCm39) |
V149E |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,934,760 (GRCm39) |
|
probably benign |
Het |
| Desi1 |
T |
C |
15: 81,882,399 (GRCm39) |
N109D |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,372,182 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,014,809 (GRCm39) |
F831S |
probably damaging |
Het |
| Fancm |
C |
T |
12: 65,144,091 (GRCm39) |
R518* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,202,669 (GRCm39) |
V135A |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,691,987 (GRCm39) |
F42V |
probably damaging |
Het |
| Fgd3 |
A |
T |
13: 49,418,173 (GRCm39) |
V631E |
possibly damaging |
Het |
| Fhod3 |
G |
A |
18: 25,245,736 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
C |
4: 88,039,525 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
C |
A |
5: 114,399,129 (GRCm39) |
|
probably benign |
Het |
| Gm2381 |
A |
T |
7: 42,469,402 (GRCm39) |
C241S |
probably damaging |
Het |
| Gm6483 |
T |
G |
8: 19,743,725 (GRCm39) |
F117V |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,481,295 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,455,027 (GRCm39) |
Q676L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,724,420 (GRCm39) |
R437C |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,298,570 (GRCm39) |
Y396H |
probably damaging |
Het |
| Ints5 |
A |
T |
19: 8,873,383 (GRCm39) |
K447N |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,666,952 (GRCm39) |
Y495C |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,264,742 (GRCm39) |
|
probably null |
Het |
| Kcnk4 |
T |
A |
19: 6,905,528 (GRCm39) |
|
probably benign |
Het |
| Kmo |
A |
G |
1: 175,474,756 (GRCm39) |
T174A |
possibly damaging |
Het |
| Krt36 |
T |
C |
11: 99,993,101 (GRCm39) |
D458G |
probably damaging |
Het |
| Krtap16-1 |
G |
T |
11: 99,877,321 (GRCm39) |
P28T |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,552,315 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
T |
C |
12: 72,529,788 (GRCm39) |
S920P |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,636,481 (GRCm39) |
Y1485F |
probably benign |
Het |
| Mical1 |
C |
T |
10: 41,357,311 (GRCm39) |
A372V |
probably damaging |
Het |
| Ms4a20 |
C |
A |
19: 11,089,764 (GRCm39) |
L40F |
probably damaging |
Het |
| Mtr |
C |
T |
13: 12,236,318 (GRCm39) |
R636Q |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,925 (GRCm39) |
T662S |
possibly damaging |
Het |
| Myo10 |
G |
A |
15: 25,738,091 (GRCm39) |
V546M |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,320,991 (GRCm39) |
W2034* |
probably null |
Het |
| Nhlrc3 |
T |
C |
3: 53,366,044 (GRCm39) |
T150A |
probably damaging |
Het |
| Nicol1 |
T |
C |
5: 34,140,896 (GRCm39) |
|
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,640 (GRCm39) |
H69R |
possibly damaging |
Het |
| Nlrp4g |
A |
T |
9: 124,349,540 (GRCm38) |
|
noncoding transcript |
Het |
| Nod2 |
A |
G |
8: 89,379,859 (GRCm39) |
N120S |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
| Or10ag58 |
A |
G |
2: 87,265,005 (GRCm39) |
D58G |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
| Or51i1 |
A |
T |
7: 103,671,196 (GRCm39) |
S110T |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
| Or5b106 |
T |
C |
19: 13,123,727 (GRCm39) |
M99V |
probably benign |
Het |
| Or5b120 |
C |
A |
19: 13,479,900 (GRCm39) |
N64K |
probably damaging |
Het |
| Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
| Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,829,434 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,490,100 (GRCm39) |
R593C |
probably benign |
Het |
| Pgm3 |
A |
G |
9: 86,438,243 (GRCm39) |
|
probably null |
Het |
| Pirt |
T |
A |
11: 66,816,998 (GRCm39) |
V103E |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,635,230 (GRCm39) |
D1332V |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,256,518 (GRCm39) |
V122E |
probably damaging |
Het |
| Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,044,517 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
G |
T |
17: 35,372,536 (GRCm39) |
P1702T |
probably damaging |
Het |
| Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,014 (GRCm39) |
I794K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
| Sbf2 |
ACC |
AC |
7: 109,929,890 (GRCm39) |
|
probably null |
Het |
| Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
| Setx |
T |
A |
2: 29,036,819 (GRCm39) |
H1101Q |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,872,938 (GRCm39) |
C67R |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,886,596 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,850,073 (GRCm39) |
I685N |
possibly damaging |
Het |
| Spef2 |
T |
A |
15: 9,592,844 (GRCm39) |
N1499I |
probably damaging |
Het |
| Stk11ip |
T |
A |
1: 75,508,932 (GRCm39) |
|
probably null |
Het |
| Stxbp1 |
A |
C |
2: 32,692,795 (GRCm39) |
I407S |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,300,933 (GRCm39) |
V932M |
probably damaging |
Het |
| Tacc1 |
A |
C |
8: 25,668,020 (GRCm39) |
|
probably benign |
Het |
| Tbc1d13 |
C |
A |
2: 30,025,576 (GRCm39) |
|
probably benign |
Het |
| Tbc1d15 |
A |
C |
10: 115,075,204 (GRCm39) |
D59E |
probably damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,445 (GRCm39) |
F194S |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,127 (GRCm39) |
M5K |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,987,388 (GRCm39) |
D40E |
probably benign |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,412,886 (GRCm39) |
C129S |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,673 (GRCm39) |
D532G |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,762,494 (GRCm39) |
H465L |
unknown |
Het |
| Togaram2 |
A |
T |
17: 72,007,504 (GRCm39) |
Q350L |
possibly damaging |
Het |
| Topaz1 |
G |
A |
9: 122,578,971 (GRCm39) |
C627Y |
possibly damaging |
Het |
| Tpx2 |
A |
T |
2: 152,715,058 (GRCm39) |
Q93L |
probably benign |
Het |
| Trim54 |
T |
C |
5: 31,293,526 (GRCm39) |
|
probably null |
Het |
| Troap |
T |
A |
15: 98,980,541 (GRCm39) |
C574S |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r51 |
A |
G |
7: 9,834,396 (GRCm39) |
V214A |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,484 (GRCm39) |
M642K |
probably benign |
Het |
| Vwa5a |
T |
A |
9: 38,635,191 (GRCm39) |
I232N |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,685 (GRCm39) |
S214R |
probably damaging |
Het |
| Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,381,687 (GRCm39) |
T1162M |
probably benign |
Het |
|
| Other mutations in Svil |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Svil
|
APN |
18 |
5,099,045 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL00840:Svil
|
APN |
18 |
5,063,555 (GRCm39) |
missense |
probably benign |
|
|
IGL01329:Svil
|
APN |
18 |
5,064,501 (GRCm39) |
missense |
probably benign |
|
|
IGL01446:Svil
|
APN |
18 |
5,062,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02068:Svil
|
APN |
18 |
5,092,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Svil
|
APN |
18 |
5,105,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL02428:Svil
|
APN |
18 |
5,118,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Svil
|
APN |
18 |
5,118,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02479:Svil
|
APN |
18 |
5,099,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Svil
|
APN |
18 |
5,049,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02652:Svil
|
APN |
18 |
5,114,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03291:Svil
|
APN |
18 |
5,056,150 (GRCm39) |
nonsense |
probably null |
|
|
R3779_Svil_985
|
UTSW |
18 |
5,090,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5433_Svil_176
|
UTSW |
18 |
5,059,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6062_Svil_873
|
UTSW |
18 |
5,106,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Svil
|
UTSW |
18 |
5,118,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB012:Svil
|
UTSW |
18 |
5,118,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03055:Svil
|
UTSW |
18 |
5,108,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Svil
|
UTSW |
18 |
5,063,286 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0029:Svil
|
UTSW |
18 |
5,063,286 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0266:Svil
|
UTSW |
18 |
5,099,063 (GRCm39) |
splice site |
probably benign |
|
|
R0281:Svil
|
UTSW |
18 |
5,094,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0442:Svil
|
UTSW |
18 |
5,046,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Svil
|
UTSW |
18 |
5,064,566 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0801:Svil
|
UTSW |
18 |
5,099,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0894:Svil
|
UTSW |
18 |
5,097,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1053:Svil
|
UTSW |
18 |
5,056,690 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1065:Svil
|
UTSW |
18 |
5,063,777 (GRCm39) |
splice site |
probably benign |
|
|
R1080:Svil
|
UTSW |
18 |
5,058,147 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1199:Svil
|
UTSW |
18 |
5,059,217 (GRCm39) |
splice site |
probably benign |
|
|
R1472:Svil
|
UTSW |
18 |
5,048,950 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1480:Svil
|
UTSW |
18 |
5,057,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Svil
|
UTSW |
18 |
5,046,817 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1626:Svil
|
UTSW |
18 |
5,117,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1691:Svil
|
UTSW |
18 |
5,056,336 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1812:Svil
|
UTSW |
18 |
5,097,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Svil
|
UTSW |
18 |
5,063,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1842:Svil
|
UTSW |
18 |
5,062,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Svil
|
UTSW |
18 |
5,094,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1945:Svil
|
UTSW |
18 |
5,117,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Svil
|
UTSW |
18 |
5,099,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Svil
|
UTSW |
18 |
5,099,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Svil
|
UTSW |
18 |
5,046,640 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R2398:Svil
|
UTSW |
18 |
5,060,613 (GRCm39) |
splice site |
probably null |
|
|
R3076:Svil
|
UTSW |
18 |
5,116,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Svil
|
UTSW |
18 |
5,090,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3779:Svil
|
UTSW |
18 |
5,090,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3797:Svil
|
UTSW |
18 |
5,060,534 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4077:Svil
|
UTSW |
18 |
5,063,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4350:Svil
|
UTSW |
18 |
5,118,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4379:Svil
|
UTSW |
18 |
5,046,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4488:Svil
|
UTSW |
18 |
5,049,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Svil
|
UTSW |
18 |
5,088,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4825:Svil
|
UTSW |
18 |
5,114,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Svil
|
UTSW |
18 |
5,108,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Svil
|
UTSW |
18 |
5,095,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Svil
|
UTSW |
18 |
5,054,025 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4990:Svil
|
UTSW |
18 |
5,056,810 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4991:Svil
|
UTSW |
18 |
5,056,810 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5061:Svil
|
UTSW |
18 |
5,048,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5271:Svil
|
UTSW |
18 |
5,062,329 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5362:Svil
|
UTSW |
18 |
5,057,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Svil
|
UTSW |
18 |
5,059,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5677:Svil
|
UTSW |
18 |
5,046,823 (GRCm39) |
nonsense |
probably null |
|
|
R5850:Svil
|
UTSW |
18 |
5,098,900 (GRCm39) |
splice site |
probably null |
|
|
R5868:Svil
|
UTSW |
18 |
5,056,854 (GRCm39) |
splice site |
probably null |
|
|
R5871:Svil
|
UTSW |
18 |
5,103,669 (GRCm39) |
splice site |
probably null |
|
|
R5876:Svil
|
UTSW |
18 |
5,082,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Svil
|
UTSW |
18 |
5,106,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Svil
|
UTSW |
18 |
5,106,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Svil
|
UTSW |
18 |
5,106,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6065:Svil
|
UTSW |
18 |
5,106,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6066:Svil
|
UTSW |
18 |
5,106,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Svil
|
UTSW |
18 |
5,108,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:Svil
|
UTSW |
18 |
5,108,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6117:Svil
|
UTSW |
18 |
5,116,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Svil
|
UTSW |
18 |
5,057,432 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6418:Svil
|
UTSW |
18 |
5,040,171 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6441:Svil
|
UTSW |
18 |
5,049,323 (GRCm39) |
missense |
probably benign |
|
|
R6446:Svil
|
UTSW |
18 |
5,057,323 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6455:Svil
|
UTSW |
18 |
5,056,629 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6545:Svil
|
UTSW |
18 |
5,108,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6692:Svil
|
UTSW |
18 |
5,082,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Svil
|
UTSW |
18 |
5,049,311 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6763:Svil
|
UTSW |
18 |
5,056,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6870:Svil
|
UTSW |
18 |
5,063,231 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6916:Svil
|
UTSW |
18 |
5,114,682 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7134:Svil
|
UTSW |
18 |
5,116,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7190:Svil
|
UTSW |
18 |
5,092,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7213:Svil
|
UTSW |
18 |
5,094,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7249:Svil
|
UTSW |
18 |
5,062,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7249:Svil
|
UTSW |
18 |
5,056,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7421:Svil
|
UTSW |
18 |
5,056,109 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7571:Svil
|
UTSW |
18 |
5,114,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Svil
|
UTSW |
18 |
5,095,188 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7645:Svil
|
UTSW |
18 |
5,099,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7925:Svil
|
UTSW |
18 |
5,118,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8113:Svil
|
UTSW |
18 |
5,062,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8263:Svil
|
UTSW |
18 |
5,108,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Svil
|
UTSW |
18 |
5,064,566 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8491:Svil
|
UTSW |
18 |
5,106,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Svil
|
UTSW |
18 |
5,060,366 (GRCm39) |
intron |
probably benign |
|
|
R8774:Svil
|
UTSW |
18 |
5,049,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Svil
|
UTSW |
18 |
5,049,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8780:Svil
|
UTSW |
18 |
5,063,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8787:Svil
|
UTSW |
18 |
5,059,332 (GRCm39) |
nonsense |
probably null |
|
|
R8790:Svil
|
UTSW |
18 |
5,056,098 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8974:Svil
|
UTSW |
18 |
5,099,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9029:Svil
|
UTSW |
18 |
5,056,239 (GRCm39) |
missense |
probably benign |
|
|
R9072:Svil
|
UTSW |
18 |
5,097,500 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9073:Svil
|
UTSW |
18 |
5,097,500 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9079:Svil
|
UTSW |
18 |
5,056,308 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9181:Svil
|
UTSW |
18 |
5,090,833 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9363:Svil
|
UTSW |
18 |
5,037,155 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9377:Svil
|
UTSW |
18 |
5,057,294 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9381:Svil
|
UTSW |
18 |
5,099,013 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9389:Svil
|
UTSW |
18 |
5,090,811 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9566:Svil
|
UTSW |
18 |
5,099,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Svil
|
UTSW |
18 |
5,058,126 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9716:Svil
|
UTSW |
18 |
5,062,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9801:Svil
|
UTSW |
18 |
5,049,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Svil
|
UTSW |
18 |
5,062,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Svil
|
UTSW |
18 |
5,062,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTTCCAGACAGCCTTCTGTCC -3'
(R):5'- TGAGCTTGCTCACCATCATGCAC -3'
Sequencing Primer
(F):5'- TCAGATAAACAGCACCTGTGTG -3'
(R):5'- TGCCGATGAGCAACAATAAATGC -3'
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| Posted On |
2013-07-11 |
Incidental Mutation