Incidental Mutation 'R0617:Sis'
| ID |
58400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sis
|
| Ensembl Gene |
ENSMUSG00000027790 |
| Gene Name |
sucrase isomaltase |
| Synonyms |
2010204N08Rik, Si-s, sucrase-isomaltase |
| MMRRC Submission |
038806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
72795890-72875196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72872938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 67
(C67R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094190]
[ENSMUST00000167334]
|
| AlphaFold |
F8VQM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094190
AA Change: C67R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091742
Gene: ENSMUSG00000027790
AA Change: C67R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
PD
|
51 |
103 |
1.92e-12 |
SMART |
|
Pfam:NtCtMGAM_N
|
115 |
224 |
1.2e-35 |
PFAM |
|
Pfam:Gal_mutarotas_2
|
225 |
294 |
4.8e-9 |
PFAM |
|
Pfam:Glyco_hydro_31
|
314 |
787 |
2.1e-142 |
PFAM |
|
PD
|
917 |
972 |
6.69e-12 |
SMART |
|
Pfam:NtCtMGAM_N
|
985 |
1098 |
6e-33 |
PFAM |
|
Blast:ANK
|
1138 |
1168 |
1e-5 |
BLAST |
|
Pfam:Glyco_hydro_31
|
1186 |
1682 |
8.4e-137 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167334
AA Change: C67R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129116
Gene: ENSMUSG00000027790
AA Change: C67R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
PD
|
51 |
103 |
1.92e-12 |
SMART |
|
Pfam:NtCtMGAM_N
|
115 |
224 |
1.2e-35 |
PFAM |
|
Pfam:Gal_mutarotas_2
|
225 |
294 |
4.8e-9 |
PFAM |
|
Pfam:Glyco_hydro_31
|
314 |
787 |
2.1e-142 |
PFAM |
|
PD
|
917 |
972 |
6.69e-12 |
SMART |
|
Pfam:NtCtMGAM_N
|
985 |
1098 |
6e-33 |
PFAM |
|
Blast:ANK
|
1138 |
1168 |
1e-5 |
BLAST |
|
Pfam:Glyco_hydro_31
|
1186 |
1682 |
8.4e-137 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170445
|
| Meta Mutation Damage Score |
0.9131 |
| 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 sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]
|
| 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 |
| 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 |
| Svil |
T |
C |
18: 5,117,002 (GRCm39) |
S2059P |
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 Sis |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Sis
|
APN |
3 |
72,853,969 (GRCm39) |
missense |
probably benign |
|
|
IGL00715:Sis
|
APN |
3 |
72,841,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00721:Sis
|
APN |
3 |
72,850,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00766:Sis
|
APN |
3 |
72,814,570 (GRCm39) |
splice site |
probably benign |
|
|
IGL00783:Sis
|
APN |
3 |
72,853,965 (GRCm39) |
missense |
probably benign |
|
|
IGL00805:Sis
|
APN |
3 |
72,841,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00932:Sis
|
APN |
3 |
72,848,289 (GRCm39) |
splice site |
probably benign |
|
|
IGL01020:Sis
|
APN |
3 |
72,874,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01024:Sis
|
APN |
3 |
72,819,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01286:Sis
|
APN |
3 |
72,848,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01457:Sis
|
APN |
3 |
72,868,354 (GRCm39) |
missense |
probably benign |
|
|
IGL01514:Sis
|
APN |
3 |
72,843,253 (GRCm39) |
splice site |
probably benign |
|
|
IGL01986:Sis
|
APN |
3 |
72,852,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02110:Sis
|
APN |
3 |
72,836,032 (GRCm39) |
nonsense |
probably null |
|
|
IGL02132:Sis
|
APN |
3 |
72,854,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02152:Sis
|
APN |
3 |
72,796,319 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02200:Sis
|
APN |
3 |
72,850,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02244:Sis
|
APN |
3 |
72,863,523 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02307:Sis
|
APN |
3 |
72,819,167 (GRCm39) |
splice site |
probably benign |
|
|
IGL02374:Sis
|
APN |
3 |
72,832,789 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02437:Sis
|
APN |
3 |
72,826,947 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02571:Sis
|
APN |
3 |
72,863,637 (GRCm39) |
splice site |
probably benign |
|
|
IGL02601:Sis
|
APN |
3 |
72,820,543 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03063:Sis
|
APN |
3 |
72,835,630 (GRCm39) |
missense |
probably benign |
|
|
IGL03382:Sis
|
APN |
3 |
72,836,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03397:Sis
|
APN |
3 |
72,843,212 (GRCm39) |
missense |
probably benign |
0.44 |
|
PIT1430001:Sis
|
UTSW |
3 |
72,830,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0013:Sis
|
UTSW |
3 |
72,817,809 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0013:Sis
|
UTSW |
3 |
72,817,809 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0046:Sis
|
UTSW |
3 |
72,839,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0094:Sis
|
UTSW |
3 |
72,828,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Sis
|
UTSW |
3 |
72,835,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Sis
|
UTSW |
3 |
72,867,629 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0544:Sis
|
UTSW |
3 |
72,858,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Sis
|
UTSW |
3 |
72,832,740 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0698:Sis
|
UTSW |
3 |
72,817,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0701:Sis
|
UTSW |
3 |
72,848,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Sis
|
UTSW |
3 |
72,857,155 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0706:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0710:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0752:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0753:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0754:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0767:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0769:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0772:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0774:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0776:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0818:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0819:Sis
|
UTSW |
3 |
72,859,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0885:Sis
|
UTSW |
3 |
72,819,282 (GRCm39) |
nonsense |
probably null |
|
|
R1076:Sis
|
UTSW |
3 |
72,841,431 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1140:Sis
|
UTSW |
3 |
72,858,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1175:Sis
|
UTSW |
3 |
72,865,437 (GRCm39) |
splice site |
probably benign |
|
|
R1301:Sis
|
UTSW |
3 |
72,853,915 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1437:Sis
|
UTSW |
3 |
72,841,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Sis
|
UTSW |
3 |
72,839,393 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1466:Sis
|
UTSW |
3 |
72,839,393 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1472:Sis
|
UTSW |
3 |
72,796,360 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1584:Sis
|
UTSW |
3 |
72,839,393 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1707:Sis
|
UTSW |
3 |
72,816,420 (GRCm39) |
splice site |
probably benign |
|
|
R1715:Sis
|
UTSW |
3 |
72,796,343 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1719:Sis
|
UTSW |
3 |
72,872,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Sis
|
UTSW |
3 |
72,872,978 (GRCm39) |
nonsense |
probably null |
|
|
R1784:Sis
|
UTSW |
3 |
72,872,978 (GRCm39) |
nonsense |
probably null |
|
|
R1820:Sis
|
UTSW |
3 |
72,828,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Sis
|
UTSW |
3 |
72,828,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:Sis
|
UTSW |
3 |
72,828,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Sis
|
UTSW |
3 |
72,820,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2233:Sis
|
UTSW |
3 |
72,820,527 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2235:Sis
|
UTSW |
3 |
72,820,527 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2276:Sis
|
UTSW |
3 |
72,821,934 (GRCm39) |
nonsense |
probably null |
|
|
R2435:Sis
|
UTSW |
3 |
72,819,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2885:Sis
|
UTSW |
3 |
72,816,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2966:Sis
|
UTSW |
3 |
72,796,343 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3708:Sis
|
UTSW |
3 |
72,850,856 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3790:Sis
|
UTSW |
3 |
72,828,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3807:Sis
|
UTSW |
3 |
72,832,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3858:Sis
|
UTSW |
3 |
72,835,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3974:Sis
|
UTSW |
3 |
72,850,968 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3975:Sis
|
UTSW |
3 |
72,850,968 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4037:Sis
|
UTSW |
3 |
72,835,935 (GRCm39) |
missense |
probably benign |
|
|
R4080:Sis
|
UTSW |
3 |
72,828,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Sis
|
UTSW |
3 |
72,868,415 (GRCm39) |
missense |
probably benign |
|
|
R4394:Sis
|
UTSW |
3 |
72,863,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4470:Sis
|
UTSW |
3 |
72,835,492 (GRCm39) |
splice site |
probably null |
|
|
R4573:Sis
|
UTSW |
3 |
72,835,570 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4868:Sis
|
UTSW |
3 |
72,850,881 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5023:Sis
|
UTSW |
3 |
72,841,455 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5264:Sis
|
UTSW |
3 |
72,857,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5414:Sis
|
UTSW |
3 |
72,859,826 (GRCm39) |
missense |
probably benign |
|
|
R5462:Sis
|
UTSW |
3 |
72,857,171 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5523:Sis
|
UTSW |
3 |
72,798,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5584:Sis
|
UTSW |
3 |
72,817,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Sis
|
UTSW |
3 |
72,821,909 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5725:Sis
|
UTSW |
3 |
72,872,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Sis
|
UTSW |
3 |
72,835,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5790:Sis
|
UTSW |
3 |
72,835,507 (GRCm39) |
missense |
probably benign |
|
|
R5864:Sis
|
UTSW |
3 |
72,857,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Sis
|
UTSW |
3 |
72,867,589 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5925:Sis
|
UTSW |
3 |
72,828,713 (GRCm39) |
splice site |
probably null |
|
|
R6018:Sis
|
UTSW |
3 |
72,820,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6029:Sis
|
UTSW |
3 |
72,835,641 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6124:Sis
|
UTSW |
3 |
72,860,544 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6171:Sis
|
UTSW |
3 |
72,868,360 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6182:Sis
|
UTSW |
3 |
72,811,626 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6295:Sis
|
UTSW |
3 |
72,874,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6416:Sis
|
UTSW |
3 |
72,819,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Sis
|
UTSW |
3 |
72,865,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6472:Sis
|
UTSW |
3 |
72,846,067 (GRCm39) |
nonsense |
probably null |
|
|
R6517:Sis
|
UTSW |
3 |
72,814,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Sis
|
UTSW |
3 |
72,856,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Sis
|
UTSW |
3 |
72,872,951 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6853:Sis
|
UTSW |
3 |
72,798,759 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6906:Sis
|
UTSW |
3 |
72,826,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Sis
|
UTSW |
3 |
72,810,940 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7357:Sis
|
UTSW |
3 |
72,832,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Sis
|
UTSW |
3 |
72,820,625 (GRCm39) |
splice site |
probably null |
|
|
R7439:Sis
|
UTSW |
3 |
72,816,374 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7742:Sis
|
UTSW |
3 |
72,832,431 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7813:Sis
|
UTSW |
3 |
72,832,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7883:Sis
|
UTSW |
3 |
72,828,329 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7899:Sis
|
UTSW |
3 |
72,844,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7915:Sis
|
UTSW |
3 |
72,828,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7985:Sis
|
UTSW |
3 |
72,844,294 (GRCm39) |
splice site |
probably null |
|
|
R8020:Sis
|
UTSW |
3 |
72,816,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8023:Sis
|
UTSW |
3 |
72,859,813 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8029:Sis
|
UTSW |
3 |
72,828,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Sis
|
UTSW |
3 |
72,856,901 (GRCm39) |
nonsense |
probably null |
|
|
R8062:Sis
|
UTSW |
3 |
72,828,321 (GRCm39) |
nonsense |
probably null |
|
|
R8074:Sis
|
UTSW |
3 |
72,824,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Sis
|
UTSW |
3 |
72,814,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Sis
|
UTSW |
3 |
72,796,378 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8349:Sis
|
UTSW |
3 |
72,810,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Sis
|
UTSW |
3 |
72,854,834 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8366:Sis
|
UTSW |
3 |
72,865,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Sis
|
UTSW |
3 |
72,810,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Sis
|
UTSW |
3 |
72,854,834 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8474:Sis
|
UTSW |
3 |
72,836,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Sis
|
UTSW |
3 |
72,836,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8680:Sis
|
UTSW |
3 |
72,867,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Sis
|
UTSW |
3 |
72,867,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Sis
|
UTSW |
3 |
72,844,578 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9466:Sis
|
UTSW |
3 |
72,872,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9574:Sis
|
UTSW |
3 |
72,828,490 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9630:Sis
|
UTSW |
3 |
72,828,722 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9680:Sis
|
UTSW |
3 |
72,863,621 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9709:Sis
|
UTSW |
3 |
72,799,074 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9731:Sis
|
UTSW |
3 |
72,835,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0009:Sis
|
UTSW |
3 |
72,796,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0024:Sis
|
UTSW |
3 |
72,836,003 (GRCm39) |
missense |
probably benign |
|
|
X0060:Sis
|
UTSW |
3 |
72,828,239 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Sis
|
UTSW |
3 |
72,850,890 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1176:Sis
|
UTSW |
3 |
72,811,606 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Sis
|
UTSW |
3 |
72,850,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sis
|
UTSW |
3 |
72,817,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sis
|
UTSW |
3 |
72,816,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTTTCAGGAAGGCATGGTAAGC -3'
(R):5'- TGTCAAACACCAGTTGCAGATCCTC -3'
Sequencing Primer
(F):5'- TGAGTTTGGATGGAAAGTAACCTC -3'
(R):5'- tataCTGACTGAAGCTTGATTTTGGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation