Incidental Mutation 'R4683:Gab1'
ID |
350116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gab1
|
Ensembl Gene |
ENSMUSG00000031714 |
Gene Name |
growth factor receptor bound protein 2-associated protein 1 |
Synonyms |
|
MMRRC Submission |
041935-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4683 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
81491067-81607148 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 81515261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 352
(H352Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034150]
[ENSMUST00000210676]
|
AlphaFold |
Q9QYY0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034150
AA Change: H352Q
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000034150 Gene: ENSMUSG00000031714 AA Change: H352Q
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 |
probably benign
Transcript: ENSMUST00000210676
AA Change: H352Q
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211018
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr3 |
T |
C |
1: 90,141,709 (GRCm39) |
V56A |
probably damaging |
Het |
Acyp1 |
A |
G |
12: 85,325,717 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,459,963 (GRCm39) |
K532I |
probably damaging |
Het |
Ahrr |
T |
A |
13: 74,372,885 (GRCm39) |
|
silent |
Het |
Asz1 |
T |
C |
6: 18,055,541 (GRCm39) |
|
probably benign |
Het |
AW554918 |
T |
C |
18: 25,472,852 (GRCm39) |
Y219H |
probably benign |
Het |
Ccno |
C |
A |
13: 113,125,543 (GRCm39) |
|
probably null |
Het |
Cdh17 |
A |
T |
4: 11,817,036 (GRCm39) |
N816Y |
possibly damaging |
Het |
Clca4a |
C |
T |
3: 144,660,701 (GRCm39) |
V708I |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,701,179 (GRCm39) |
Y2579F |
unknown |
Het |
Col6a4 |
A |
G |
9: 105,957,329 (GRCm39) |
V165A |
probably benign |
Het |
Csf1r |
T |
A |
18: 61,257,983 (GRCm39) |
C651S |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,126,985 (GRCm39) |
D315G |
probably null |
Het |
Def6 |
A |
G |
17: 28,436,609 (GRCm39) |
D91G |
probably damaging |
Het |
Dmxl1 |
T |
G |
18: 50,011,088 (GRCm39) |
S1082A |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,349,768 (GRCm39) |
Y2392N |
probably damaging |
Het |
Dsg4 |
T |
C |
18: 20,594,466 (GRCm39) |
S532P |
probably benign |
Het |
Efr3a |
C |
A |
15: 65,691,650 (GRCm39) |
S126R |
probably damaging |
Het |
Gm1110 |
A |
G |
9: 26,831,890 (GRCm39) |
M87T |
probably damaging |
Het |
Greb1 |
C |
T |
12: 16,761,774 (GRCm39) |
M535I |
possibly damaging |
Het |
Greb1l |
T |
A |
18: 10,529,563 (GRCm39) |
|
probably null |
Het |
Gucy2d |
T |
C |
7: 98,102,650 (GRCm39) |
C487R |
probably benign |
Het |
H1f7 |
A |
T |
15: 98,154,921 (GRCm39) |
I76N |
probably damaging |
Het |
Lrrc2 |
A |
T |
9: 110,791,614 (GRCm39) |
H122L |
possibly damaging |
Het |
Mrps22 |
A |
T |
9: 98,480,359 (GRCm39) |
|
probably null |
Het |
Mxd3 |
T |
C |
13: 55,473,613 (GRCm39) |
T202A |
probably benign |
Het |
Neb |
T |
C |
2: 52,134,074 (GRCm39) |
H3303R |
possibly damaging |
Het |
Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
Or13a19 |
T |
C |
7: 139,902,681 (GRCm39) |
L23P |
probably benign |
Het |
Or14j6 |
A |
G |
17: 38,215,039 (GRCm39) |
T201A |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,255,675 (GRCm39) |
Y629H |
probably benign |
Het |
Pcnx1 |
A |
G |
12: 82,033,446 (GRCm39) |
D1781G |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
Pcsk9 |
A |
T |
4: 106,316,092 (GRCm39) |
I117N |
possibly damaging |
Het |
Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
Pfkfb2 |
T |
A |
1: 130,634,221 (GRCm39) |
|
probably null |
Het |
Pi4ka |
T |
C |
16: 17,114,901 (GRCm39) |
E1456G |
possibly damaging |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Sh2b2 |
C |
T |
5: 136,260,574 (GRCm39) |
C214Y |
probably damaging |
Het |
Slc52a2 |
C |
A |
15: 76,424,433 (GRCm39) |
P224T |
probably damaging |
Het |
Slf2 |
C |
G |
19: 44,923,920 (GRCm39) |
R245G |
probably benign |
Het |
Sox5 |
T |
C |
6: 143,779,193 (GRCm39) |
S648G |
probably damaging |
Het |
Stk36 |
T |
A |
1: 74,673,344 (GRCm39) |
I1079N |
probably benign |
Het |
Stxbp3 |
T |
C |
3: 108,708,188 (GRCm39) |
D371G |
probably damaging |
Het |
Trnau1ap |
A |
T |
4: 132,049,063 (GRCm39) |
Y47N |
probably damaging |
Het |
Ubr5 |
C |
T |
15: 38,038,211 (GRCm39) |
R316H |
probably damaging |
Het |
Vmn1r230 |
C |
T |
17: 21,067,515 (GRCm39) |
R235C |
probably benign |
Het |
Wnt10a |
C |
T |
1: 74,842,296 (GRCm39) |
H93Y |
unknown |
Het |
Zfp1005 |
T |
A |
2: 150,108,390 (GRCm39) |
H50Q |
possibly damaging |
Het |
Zfp52 |
A |
G |
17: 21,781,769 (GRCm39) |
D539G |
probably benign |
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 |
IGL02716:Gab1
|
APN |
8 |
81,496,323 (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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTCTTACTCATTAAGCCTTG -3'
(R):5'- CTGCAGGTGTAGAAACGCAG -3'
Sequencing Primer
(F):5'- GCCTTGTGGAAACAGACTTTC -3'
(R):5'- CGCAGATGAGACATGTATCCATCAG -3'
|
Posted On |
2015-10-08 |