Incidental Mutation 'R7423:Sbf2'
| ID |
575827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
045501-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R7423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110038055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 463
(F463L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000171218]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033058
AA Change: F463L
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: F463L
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
420 |
2e-20 |
SMART |
|
Pfam:SBF2
|
530 |
752 |
3.3e-106 |
PFAM |
|
GRAM
|
869 |
955 |
1.3e-12 |
SMART |
|
low complexity region
|
1078 |
1089 |
N/A |
INTRINSIC |
|
Pfam:Myotub-related
|
1091 |
1544 |
8.3e-86 |
PFAM |
|
PH
|
1767 |
1872 |
3.05e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164559
AA Change: F70L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128265
Gene: ENSMUSG00000038371
AA Change: F70L
| Domain | Start | End | E-Value | Type |
|---|
|
dDENN
|
2 |
74 |
3.04e-2 |
SMART |
|
Pfam:SBF2
|
138 |
177 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164759
AA Change: F463L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: F463L
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
420 |
2e-20 |
SMART |
|
Pfam:SBF2
|
528 |
752 |
1.6e-107 |
PFAM |
|
GRAM
|
869 |
955 |
1.3e-12 |
SMART |
|
Pfam:Myotub-related
|
1089 |
1521 |
1.6e-98 |
PFAM |
|
PH
|
1742 |
1847 |
3.05e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166020
AA Change: F417L
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: F417L
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
75 |
9.26e-1 |
SMART |
|
DENN
|
70 |
252 |
5.68e-75 |
SMART |
|
dDENN
|
305 |
374 |
2e-20 |
SMART |
|
Pfam:SBF2
|
482 |
706 |
1.6e-107 |
PFAM |
|
GRAM
|
823 |
909 |
1.3e-12 |
SMART |
|
Pfam:Myotub-related
|
1043 |
1500 |
5.9e-98 |
PFAM |
|
PH
|
1721 |
1826 |
3.05e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166885
|
| SMART Domains |
Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
2 |
151 |
1.96e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171218
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
407 |
1.5e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (91/95) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9) |
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
A |
T |
17: 57,175,257 (GRCm39) |
M85K |
probably benign |
Het |
| Actn4 |
C |
T |
7: 28,593,680 (GRCm39) |
A905T |
probably damaging |
Het |
| Aff1 |
T |
A |
5: 103,994,967 (GRCm39) |
V1055D |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,160,228 (GRCm39) |
E137G |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,895,468 (GRCm39) |
D443E |
probably damaging |
Het |
| Arl5b |
C |
A |
2: 15,072,983 (GRCm39) |
A28E |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,714,023 (GRCm39) |
V478A |
probably damaging |
Het |
| Atp6v1f |
G |
C |
6: 29,468,105 (GRCm39) |
E13Q |
probably null |
Het |
| Atpaf1 |
A |
T |
4: 115,647,827 (GRCm39) |
K162M |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,521,767 (GRCm39) |
L1100Q |
probably damaging |
Het |
| Ccr1 |
A |
G |
9: 123,764,422 (GRCm39) |
L36P |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,216,503 (GRCm39) |
L153S |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,105,822 (GRCm39) |
D1813G |
possibly damaging |
Het |
| Chrm3 |
T |
C |
13: 9,928,845 (GRCm39) |
I64V |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,328,303 (GRCm39) |
V477E |
probably damaging |
Het |
| Csf2rb2 |
T |
A |
15: 78,176,760 (GRCm39) |
I211F |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,923,743 (GRCm39) |
L1237P |
possibly damaging |
Het |
| Dnttip2 |
T |
C |
3: 122,069,175 (GRCm39) |
V130A |
probably benign |
Het |
| Dock10 |
G |
A |
1: 80,501,497 (GRCm39) |
A1852V |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,844,370 (GRCm39) |
V910A |
probably damaging |
Het |
| Drgx |
A |
G |
14: 32,350,778 (GRCm39) |
S205G |
probably damaging |
Het |
| Fbrs |
G |
A |
7: 127,088,633 (GRCm39) |
W738* |
probably null |
Het |
| Fmnl3 |
T |
A |
15: 99,227,281 (GRCm39) |
D162V |
probably damaging |
Het |
| Fosl2 |
A |
G |
5: 32,307,807 (GRCm39) |
R133G |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,256,948 (GRCm39) |
Q172R |
probably damaging |
Het |
| Fsd1l |
A |
T |
4: 53,686,406 (GRCm39) |
D273V |
probably damaging |
Het |
| Fstl4 |
T |
A |
11: 52,959,382 (GRCm39) |
M141K |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,923,541 (GRCm39) |
D535G |
probably damaging |
Het |
| Gm19410 |
A |
C |
8: 36,271,761 (GRCm39) |
D1277A |
probably benign |
Het |
| Gnmt |
T |
A |
17: 47,037,066 (GRCm39) |
N211Y |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,075,993 (GRCm39) |
D274G |
probably damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,156,849 (GRCm39) |
|
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,948,201 (GRCm39) |
S670P |
probably benign |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,120 (GRCm39) |
L100Q |
probably damaging |
Het |
| Il17rb |
A |
T |
14: 29,719,072 (GRCm39) |
S337T |
probably damaging |
Het |
| Inf2 |
G |
T |
12: 112,576,172 (GRCm39) |
R883L |
unknown |
Het |
| Inhbc |
C |
T |
10: 127,193,275 (GRCm39) |
C247Y |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,156,926 (GRCm39) |
K333E |
probably damaging |
Het |
| Iyd |
A |
T |
10: 3,497,088 (GRCm39) |
I148F |
probably damaging |
Het |
| Klk1b26 |
A |
T |
7: 43,664,193 (GRCm39) |
D16V |
probably damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lama2 |
A |
T |
10: 27,088,222 (GRCm39) |
S852T |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,834,622 (GRCm39) |
E600G |
probably benign |
Het |
| Mfap3 |
T |
G |
11: 57,420,329 (GRCm39) |
N103K |
probably damaging |
Het |
| Mtor |
G |
A |
4: 148,640,801 (GRCm39) |
E2536K |
possibly damaging |
Het |
| Mug2 |
G |
A |
6: 122,056,685 (GRCm39) |
S1210N |
probably benign |
Het |
| Nat8 |
G |
A |
6: 85,807,477 (GRCm39) |
L219F |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,893,658 (GRCm39) |
V1305A |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,850,120 (GRCm39) |
|
probably null |
Het |
| Or3a1b |
G |
A |
11: 74,012,811 (GRCm39) |
R232H |
probably benign |
Het |
| Otud6b |
A |
T |
4: 14,825,858 (GRCm39) |
|
probably null |
Het |
| Pbld2 |
A |
G |
10: 62,883,783 (GRCm39) |
T83A |
probably damaging |
Het |
| Pcx |
A |
T |
19: 4,671,206 (GRCm39) |
M1144L |
probably benign |
Het |
| Pdpk1 |
C |
A |
17: 24,329,874 (GRCm39) |
R81L |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,736,220 (GRCm39) |
|
probably null |
Het |
| Plch2 |
A |
C |
4: 155,068,194 (GRCm39) |
D1477E |
probably damaging |
Het |
| Plek2 |
A |
G |
12: 78,946,884 (GRCm39) |
I51T |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,315,142 (GRCm39) |
V505A |
probably benign |
Het |
| Pofut2 |
T |
C |
10: 77,098,273 (GRCm39) |
S129P |
possibly damaging |
Het |
| Prdx5 |
C |
A |
19: 6,887,370 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
G |
T |
11: 78,085,643 (GRCm39) |
|
probably benign |
Het |
| Ptprs |
A |
C |
17: 56,721,793 (GRCm39) |
Y1752D |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,501,856 (GRCm39) |
V1127M |
probably damaging |
Het |
| Ralbp1 |
T |
C |
17: 66,165,976 (GRCm39) |
R403G |
probably damaging |
Het |
| Reps1 |
A |
T |
10: 17,969,635 (GRCm39) |
H246L |
possibly damaging |
Het |
| Rps6kc1 |
A |
C |
1: 190,531,293 (GRCm39) |
M903R |
probably damaging |
Het |
| Rubcnl |
A |
G |
14: 75,287,083 (GRCm39) |
T584A |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,374,408 (GRCm39) |
V951E |
probably damaging |
Het |
| Sdr16c6 |
G |
A |
4: 4,076,921 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
A |
T |
4: 59,076,264 (GRCm39) |
S560T |
probably benign |
Het |
| Slc26a8 |
A |
G |
17: 28,867,177 (GRCm39) |
I548T |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,456,883 (GRCm39) |
I140F |
probably damaging |
Het |
| Smtn |
A |
T |
11: 3,481,200 (GRCm39) |
|
probably null |
Het |
| Sobp |
G |
T |
10: 42,898,564 (GRCm39) |
C340* |
probably null |
Het |
| Sox6 |
A |
T |
7: 115,149,258 (GRCm39) |
V413E |
probably benign |
Het |
| Spin1 |
T |
C |
13: 51,277,326 (GRCm39) |
|
probably null |
Het |
| Sra1 |
T |
C |
18: 36,800,536 (GRCm39) |
T224A |
probably benign |
Het |
| Sv2c |
A |
T |
13: 96,185,056 (GRCm39) |
F207Y |
probably benign |
Het |
| Tcp10c |
T |
A |
17: 13,581,503 (GRCm39) |
|
probably null |
Het |
| Tkt |
G |
A |
14: 30,292,992 (GRCm39) |
G490S |
possibly damaging |
Het |
| Tpgs1 |
G |
T |
10: 79,511,655 (GRCm39) |
A266S |
probably damaging |
Het |
| Tprg1 |
T |
G |
16: 25,241,003 (GRCm39) |
S260A |
probably damaging |
Het |
| Trdv2-1 |
T |
A |
14: 54,183,935 (GRCm39) |
W56R |
probably damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trpc4 |
T |
A |
3: 54,225,450 (GRCm39) |
V933E |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,932,687 (GRCm39) |
M1051K |
possibly damaging |
Het |
| Unc119b |
A |
G |
5: 115,272,743 (GRCm39) |
L76P |
probably damaging |
Het |
| Vmn2r15 |
G |
A |
5: 109,445,394 (GRCm39) |
S10F |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,641,704 (GRCm39) |
E810G |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,451 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
T |
A |
13: 49,191,608 (GRCm39) |
E1283V |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,396,956 (GRCm39) |
C464R |
probably damaging |
Het |
| Zpld1 |
C |
T |
16: 55,054,027 (GRCm39) |
C255Y |
probably damaging |
Het |
|
| Other mutations in Sbf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Sbf2
|
APN |
7 |
109,975,039 (GRCm39) |
splice site |
probably benign |
|
|
IGL01089:Sbf2
|
APN |
7 |
109,948,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01144:Sbf2
|
APN |
7 |
109,929,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01652:Sbf2
|
APN |
7 |
110,046,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Sbf2
|
APN |
7 |
109,965,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02027:Sbf2
|
APN |
7 |
110,060,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Sbf2
|
APN |
7 |
110,159,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Sbf2
|
APN |
7 |
110,062,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03405:Sbf2
|
APN |
7 |
110,062,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
N/A - 535:Sbf2
|
UTSW |
7 |
109,911,959 (GRCm39) |
missense |
probably benign |
|
|
R0084:Sbf2
|
UTSW |
7 |
110,041,573 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0092:Sbf2
|
UTSW |
7 |
109,920,013 (GRCm39) |
splice site |
probably benign |
|
|
R0121:Sbf2
|
UTSW |
7 |
110,088,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0464:Sbf2
|
UTSW |
7 |
110,063,783 (GRCm39) |
splice site |
probably benign |
|
|
R0505:Sbf2
|
UTSW |
7 |
109,998,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Sbf2
|
UTSW |
7 |
109,966,530 (GRCm39) |
splice site |
probably benign |
|
|
R0554:Sbf2
|
UTSW |
7 |
110,027,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Sbf2
|
UTSW |
7 |
109,929,890 (GRCm39) |
frame shift |
probably null |
|
|
R0619:Sbf2
|
UTSW |
7 |
109,909,469 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0799:Sbf2
|
UTSW |
7 |
109,940,562 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0898:Sbf2
|
UTSW |
7 |
109,970,859 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1077:Sbf2
|
UTSW |
7 |
109,966,379 (GRCm39) |
splice site |
probably benign |
|
|
R1167:Sbf2
|
UTSW |
7 |
109,963,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Sbf2
|
UTSW |
7 |
109,909,391 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1424:Sbf2
|
UTSW |
7 |
109,914,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1536:Sbf2
|
UTSW |
7 |
109,977,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1558:Sbf2
|
UTSW |
7 |
110,027,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Sbf2
|
UTSW |
7 |
109,939,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1762:Sbf2
|
UTSW |
7 |
109,911,965 (GRCm39) |
missense |
probably benign |
|
|
R1771:Sbf2
|
UTSW |
7 |
110,060,353 (GRCm39) |
nonsense |
probably null |
|
|
R1989:Sbf2
|
UTSW |
7 |
109,948,130 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2109:Sbf2
|
UTSW |
7 |
110,060,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Sbf2
|
UTSW |
7 |
110,159,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Sbf2
|
UTSW |
7 |
109,929,905 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3765:Sbf2
|
UTSW |
7 |
109,974,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Sbf2
|
UTSW |
7 |
110,088,487 (GRCm39) |
makesense |
probably null |
|
|
R3895:Sbf2
|
UTSW |
7 |
110,046,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3978:Sbf2
|
UTSW |
7 |
109,929,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4056:Sbf2
|
UTSW |
7 |
110,040,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4057:Sbf2
|
UTSW |
7 |
110,040,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4111:Sbf2
|
UTSW |
7 |
110,027,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Sbf2
|
UTSW |
7 |
109,948,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4670:Sbf2
|
UTSW |
7 |
109,934,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Sbf2
|
UTSW |
7 |
110,020,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Sbf2
|
UTSW |
7 |
109,950,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4811:Sbf2
|
UTSW |
7 |
109,971,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Sbf2
|
UTSW |
7 |
109,977,146 (GRCm39) |
intron |
probably benign |
|
|
R5110:Sbf2
|
UTSW |
7 |
109,963,864 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5143:Sbf2
|
UTSW |
7 |
110,021,747 (GRCm39) |
nonsense |
probably null |
|
|
R5443:Sbf2
|
UTSW |
7 |
109,977,135 (GRCm39) |
intron |
probably benign |
|
|
R5457:Sbf2
|
UTSW |
7 |
109,912,037 (GRCm39) |
missense |
probably benign |
|
|
R5641:Sbf2
|
UTSW |
7 |
110,038,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Sbf2
|
UTSW |
7 |
109,977,303 (GRCm39) |
nonsense |
probably null |
|
|
R5948:Sbf2
|
UTSW |
7 |
110,088,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Sbf2
|
UTSW |
7 |
109,977,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6052:Sbf2
|
UTSW |
7 |
110,040,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Sbf2
|
UTSW |
7 |
109,948,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6327:Sbf2
|
UTSW |
7 |
110,040,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Sbf2
|
UTSW |
7 |
109,971,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Sbf2
|
UTSW |
7 |
110,062,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6587:Sbf2
|
UTSW |
7 |
110,040,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Sbf2
|
UTSW |
7 |
110,159,505 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6986:Sbf2
|
UTSW |
7 |
109,929,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7147:Sbf2
|
UTSW |
7 |
110,046,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7358:Sbf2
|
UTSW |
7 |
109,998,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7414:Sbf2
|
UTSW |
7 |
109,913,271 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7418:Sbf2
|
UTSW |
7 |
109,965,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Sbf2
|
UTSW |
7 |
109,974,984 (GRCm39) |
nonsense |
probably null |
|
|
R7431:Sbf2
|
UTSW |
7 |
109,950,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Sbf2
|
UTSW |
7 |
110,213,923 (GRCm39) |
nonsense |
probably null |
|
|
R7556:Sbf2
|
UTSW |
7 |
109,913,260 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7604:Sbf2
|
UTSW |
7 |
109,977,274 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7707:Sbf2
|
UTSW |
7 |
109,929,920 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7746:Sbf2
|
UTSW |
7 |
110,040,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7812:Sbf2
|
UTSW |
7 |
110,049,170 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7849:Sbf2
|
UTSW |
7 |
109,971,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Sbf2
|
UTSW |
7 |
109,934,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Sbf2
|
UTSW |
7 |
109,914,289 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8305:Sbf2
|
UTSW |
7 |
109,970,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8337:Sbf2
|
UTSW |
7 |
110,040,669 (GRCm39) |
missense |
probably benign |
|
|
R8773:Sbf2
|
UTSW |
7 |
109,948,202 (GRCm39) |
missense |
probably benign |
|
|
R8786:Sbf2
|
UTSW |
7 |
110,063,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8812:Sbf2
|
UTSW |
7 |
109,929,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Sbf2
|
UTSW |
7 |
110,049,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8932:Sbf2
|
UTSW |
7 |
110,040,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8954:Sbf2
|
UTSW |
7 |
110,038,118 (GRCm39) |
nonsense |
probably null |
|
|
R8991:Sbf2
|
UTSW |
7 |
109,911,896 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9119:Sbf2
|
UTSW |
7 |
109,911,292 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9310:Sbf2
|
UTSW |
7 |
109,914,292 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9344:Sbf2
|
UTSW |
7 |
109,940,535 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9346:Sbf2
|
UTSW |
7 |
109,919,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9404:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9406:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9408:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9472:Sbf2
|
UTSW |
7 |
109,970,798 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9554:Sbf2
|
UTSW |
7 |
110,040,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9624:Sbf2
|
UTSW |
7 |
109,963,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9653:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9709:Sbf2
|
UTSW |
7 |
110,027,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF005:Sbf2
|
UTSW |
7 |
109,916,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGGCCAAGACATTTTCATG -3'
(R):5'- GATAGAGGTGAAACCCTATCCTAC -3'
Sequencing Primer
(F):5'- GATATAGTGACTGATTCTGACACAC -3'
(R):5'- ATGGCTCTTACTTTGCATTTTGTATG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation