Incidental Mutation 'IGL02716:Gab1'
| ID |
304775 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gab1
|
| Ensembl Gene |
ENSMUSG00000031714 |
| Gene Name |
growth factor receptor bound protein 2-associated protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02716
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
81491067-81607148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81496323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 659
(L659Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034150]
[ENSMUST00000210676]
|
| AlphaFold |
Q9QYY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034150
AA Change: L629Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: L629Q
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
118 |
1.16e-23 |
SMART |
|
low complexity region
|
336 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210546
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210676
AA Change: L659Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit developmental defects in the placenta, heart, eye, muscle, and skin, and die between embryonic day 13.5 and 18.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(43) : Targeted, knock-out(1) Targeted, other(8) Gene trapped(34) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
T |
C |
11: 54,218,102 (GRCm39) |
S212P |
probably benign |
Het |
| Ago2 |
C |
T |
15: 72,983,576 (GRCm39) |
R711Q |
possibly damaging |
Het |
| Akp3 |
A |
C |
1: 87,053,201 (GRCm39) |
D91A |
probably damaging |
Het |
| Arhgap12 |
T |
A |
18: 6,111,857 (GRCm39) |
Q169L |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,407,425 (GRCm39) |
Y2104C |
probably damaging |
Het |
| Baz2b |
G |
A |
2: 59,792,868 (GRCm39) |
S420L |
possibly damaging |
Het |
| Cenpo |
T |
C |
12: 4,265,390 (GRCm39) |
N210S |
possibly damaging |
Het |
| Chadl |
T |
C |
15: 81,580,116 (GRCm39) |
N40D |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,932,742 (GRCm39) |
E586G |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,504,422 (GRCm39) |
Q47L |
probably benign |
Het |
| Cyp2c40 |
C |
A |
19: 39,795,980 (GRCm39) |
D133Y |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,536,246 (GRCm39) |
M3679K |
probably damaging |
Het |
| Dym |
T |
C |
18: 75,419,754 (GRCm39) |
Y642H |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,034,627 (GRCm39) |
D65G |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,633,672 (GRCm39) |
F445I |
probably damaging |
Het |
| Epdr1 |
C |
T |
13: 19,778,740 (GRCm39) |
V119M |
probably benign |
Het |
| Epha4 |
G |
T |
1: 77,357,602 (GRCm39) |
R799S |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,199,277 (GRCm39) |
V778E |
probably damaging |
Het |
| F10 |
A |
T |
8: 13,098,177 (GRCm39) |
K127* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,800,859 (GRCm39) |
E1302K |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,635 (GRCm39) |
F1382L |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,645,642 (GRCm39) |
I318V |
possibly damaging |
Het |
| Fscn2 |
A |
T |
11: 120,257,550 (GRCm39) |
T304S |
probably benign |
Het |
| Gm4845 |
A |
C |
1: 141,184,576 (GRCm39) |
|
noncoding transcript |
Het |
| Gm572 |
A |
G |
4: 148,739,327 (GRCm39) |
M52V |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,796,520 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,231,496 (GRCm39) |
T9A |
probably damaging |
Het |
| Krt87 |
A |
C |
15: 101,332,485 (GRCm39) |
F243V |
possibly damaging |
Het |
| Lyset |
A |
G |
12: 102,711,088 (GRCm39) |
T104A |
probably benign |
Het |
| Mast1 |
G |
T |
8: 85,662,352 (GRCm39) |
P52Q |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,047,277 (GRCm39) |
Q211L |
probably benign |
Het |
| Mtrex |
T |
G |
13: 113,019,680 (GRCm39) |
D810A |
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,173,120 (GRCm39) |
P968T |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,764,073 (GRCm39) |
*614R |
probably null |
Het |
| Myo15b |
A |
T |
11: 115,774,535 (GRCm39) |
E2049V |
probably benign |
Het |
| Myo6 |
A |
T |
9: 80,176,976 (GRCm39) |
H581L |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,847,982 (GRCm39) |
S241T |
possibly damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,355 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or4k77 |
A |
T |
2: 111,199,126 (GRCm39) |
I50F |
probably benign |
Het |
| Or4x11 |
G |
T |
2: 89,868,138 (GRCm39) |
V292L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,621,953 (GRCm39) |
S676P |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,066,541 (GRCm39) |
E1196K |
possibly damaging |
Het |
| Slc13a3 |
G |
A |
2: 165,248,635 (GRCm39) |
P548S |
unknown |
Het |
| Slc2a7 |
A |
G |
4: 150,244,467 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,547,135 (GRCm39) |
S261P |
possibly damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,896 (GRCm39) |
Y42F |
possibly damaging |
Het |
| Srrm3 |
A |
G |
5: 135,883,287 (GRCm39) |
|
probably null |
Het |
| Stambp |
G |
A |
6: 83,533,372 (GRCm39) |
T297I |
probably damaging |
Het |
| Sypl1 |
T |
A |
12: 33,017,668 (GRCm39) |
Y129N |
probably damaging |
Het |
| Syt14 |
G |
A |
1: 192,662,843 (GRCm39) |
P368S |
possibly damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,227 (GRCm39) |
D222G |
probably damaging |
Het |
| Tead2 |
C |
A |
7: 44,881,720 (GRCm39) |
Y79* |
probably null |
Het |
| Uso1 |
T |
C |
5: 92,321,794 (GRCm39) |
V229A |
probably damaging |
Het |
| Vmn1r238 |
A |
G |
18: 3,123,124 (GRCm39) |
S97P |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,678 (GRCm39) |
V88D |
probably benign |
Het |
| Vps29 |
A |
G |
5: 122,500,129 (GRCm39) |
T85A |
probably benign |
Het |
| Wdr90 |
T |
A |
17: 26,076,194 (GRCm39) |
S500C |
probably damaging |
Het |
| Zfp958 |
G |
A |
8: 4,675,967 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gab1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01679:Gab1
|
APN |
8 |
81,518,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02610:Gab1
|
APN |
8 |
81,526,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02661:Gab1
|
APN |
8 |
81,515,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fallen_angel
|
UTSW |
8 |
81,606,161 (GRCm39) |
nonsense |
probably null |
|
|
fleabite
|
UTSW |
8 |
81,526,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Welterweight
|
UTSW |
8 |
81,501,594 (GRCm39) |
nonsense |
probably null |
|
|
D3080:Gab1
|
UTSW |
8 |
81,493,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Gab1
|
UTSW |
8 |
81,496,359 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0144:Gab1
|
UTSW |
8 |
81,511,830 (GRCm39) |
splice site |
probably benign |
|
|
R0173:Gab1
|
UTSW |
8 |
81,526,789 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0414:Gab1
|
UTSW |
8 |
81,526,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Gab1
|
UTSW |
8 |
81,526,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Gab1
|
UTSW |
8 |
81,496,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Gab1
|
UTSW |
8 |
81,526,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1068:Gab1
|
UTSW |
8 |
81,526,801 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1175:Gab1
|
UTSW |
8 |
81,511,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1240:Gab1
|
UTSW |
8 |
81,515,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Gab1
|
UTSW |
8 |
81,515,241 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1656:Gab1
|
UTSW |
8 |
81,515,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Gab1
|
UTSW |
8 |
81,493,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2860:Gab1
|
UTSW |
8 |
81,511,382 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2861:Gab1
|
UTSW |
8 |
81,511,382 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4683:Gab1
|
UTSW |
8 |
81,515,261 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4726:Gab1
|
UTSW |
8 |
81,515,682 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5425:Gab1
|
UTSW |
8 |
81,527,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Gab1
|
UTSW |
8 |
81,496,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Gab1
|
UTSW |
8 |
81,606,161 (GRCm39) |
nonsense |
probably null |
|
|
R6217:Gab1
|
UTSW |
8 |
81,518,237 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6233:Gab1
|
UTSW |
8 |
81,606,161 (GRCm39) |
nonsense |
probably null |
|
|
R6407:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6408:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6415:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6418:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6479:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7019:Gab1
|
UTSW |
8 |
81,511,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7291:Gab1
|
UTSW |
8 |
81,526,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Gab1
|
UTSW |
8 |
81,515,298 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7875:Gab1
|
UTSW |
8 |
81,515,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Gab1
|
UTSW |
8 |
81,511,395 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8405:Gab1
|
UTSW |
8 |
81,501,594 (GRCm39) |
nonsense |
probably null |
|
|
R9105:Gab1
|
UTSW |
8 |
81,515,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Gab1
|
UTSW |
8 |
81,515,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0066:Gab1
|
UTSW |
8 |
81,606,193 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation