Incidental Mutation 'R9485:Gab1'
| ID |
716528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gab1
|
| Ensembl Gene |
ENSMUSG00000031714 |
| Gene Name |
growth factor receptor bound protein 2-associated protein 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
81491067-81607148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81515484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 278
(T278M)
|
| 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: T278M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: T278M
| 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 damaging
Transcript: ENSMUST00000210676
AA Change: T278M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,383,400 (GRCm39) |
D855G |
possibly damaging |
Het |
| 4930486L24Rik |
A |
T |
13: 61,001,059 (GRCm39) |
V159D |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,438 (GRCm39) |
A241T |
probably benign |
Het |
| Apoa4 |
T |
C |
9: 46,152,453 (GRCm39) |
M1T |
probably null |
Het |
| Atn1 |
T |
C |
6: 124,722,748 (GRCm39) |
K776E |
unknown |
Het |
| Atp1a2 |
A |
G |
1: 172,105,822 (GRCm39) |
*948R |
probably null |
Het |
| Atp7b |
T |
C |
8: 22,502,778 (GRCm39) |
Q801R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,945,398 (GRCm39) |
S2824T |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,361,435 (GRCm39) |
I109F |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,805 (GRCm39) |
F629S |
probably benign |
Het |
| Ccdc168 |
T |
G |
1: 44,095,399 (GRCm39) |
K1900Q |
possibly damaging |
Het |
| Cnot6l |
T |
C |
5: 96,230,858 (GRCm39) |
T370A |
probably damaging |
Het |
| Cntnap5c |
A |
C |
17: 58,409,103 (GRCm39) |
D447A |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,258,669 (GRCm39) |
L14Q |
unknown |
Het |
| Dennd4a |
T |
G |
9: 64,814,388 (GRCm39) |
Y1505* |
probably null |
Het |
| Dhx32 |
T |
C |
7: 133,327,110 (GRCm39) |
M464V |
possibly damaging |
Het |
| Dip2b |
T |
C |
15: 100,052,924 (GRCm39) |
V266A |
probably benign |
Het |
| Dnajb6 |
C |
T |
5: 29,986,517 (GRCm39) |
Q220* |
probably null |
Het |
| Dnmt3a |
G |
A |
12: 3,916,121 (GRCm39) |
S102N |
probably benign |
Het |
| Dph5 |
A |
T |
3: 115,681,977 (GRCm39) |
|
probably benign |
Het |
| Ear6 |
T |
A |
14: 52,091,489 (GRCm39) |
L12H |
|
Het |
| Erp27 |
T |
C |
6: 136,886,548 (GRCm39) |
T162A |
possibly damaging |
Het |
| Fance |
T |
A |
17: 28,536,479 (GRCm39) |
L13H |
probably damaging |
Het |
| Fanci |
T |
A |
7: 79,089,405 (GRCm39) |
V947D |
probably benign |
Het |
| Gbp4 |
A |
T |
5: 105,269,796 (GRCm39) |
M344K |
probably damaging |
Het |
| Gpr87 |
C |
T |
3: 59,087,005 (GRCm39) |
V167M |
possibly damaging |
Het |
| Gramd1a |
T |
G |
7: 30,829,963 (GRCm39) |
D708A |
unknown |
Het |
| Gzmd |
T |
A |
14: 56,368,160 (GRCm39) |
I100F |
probably benign |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,054 (GRCm39) |
M77L |
possibly damaging |
Het |
| Hipk2 |
C |
A |
6: 38,680,445 (GRCm39) |
R965L |
possibly damaging |
Het |
| Ift88 |
T |
C |
14: 57,675,724 (GRCm39) |
M79T |
probably benign |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,525 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Il22b |
A |
G |
10: 118,130,314 (GRCm39) |
V63A |
probably benign |
Het |
| Mllt1 |
C |
T |
17: 57,207,184 (GRCm39) |
R220H |
probably damaging |
Het |
| Mroh8 |
T |
C |
2: 157,071,913 (GRCm39) |
T531A |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,181,802 (GRCm39) |
K1833R |
probably benign |
Het |
| Nfkbie |
C |
T |
17: 45,871,353 (GRCm39) |
T270I |
probably damaging |
Het |
| Or4c110 |
G |
A |
2: 88,831,709 (GRCm39) |
P308S |
unknown |
Het |
| Or52b3 |
A |
T |
7: 102,204,013 (GRCm39) |
N174I |
probably damaging |
Het |
| Or52e5 |
C |
T |
7: 104,718,703 (GRCm39) |
H10Y |
possibly damaging |
Het |
| Pcdh8 |
A |
T |
14: 80,005,689 (GRCm39) |
F900I |
probably damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,520,720 (GRCm39) |
C32* |
probably null |
Het |
| Pus7 |
A |
T |
5: 23,973,859 (GRCm39) |
S212T |
probably benign |
Het |
| Rgs12 |
G |
T |
5: 35,189,614 (GRCm39) |
W1322L |
probably damaging |
Het |
| Sec1 |
G |
A |
7: 45,328,033 (GRCm39) |
T338I |
probably damaging |
Het |
| Slc25a36 |
T |
C |
9: 96,962,522 (GRCm39) |
K156E |
probably benign |
Het |
| Snrpn |
C |
T |
7: 59,637,212 (GRCm39) |
D35N |
probably damaging |
Het |
| Sox9 |
A |
G |
11: 112,673,705 (GRCm39) |
S99G |
probably benign |
Het |
| Spmip3 |
T |
C |
1: 177,580,545 (GRCm39) |
V130A |
possibly damaging |
Het |
| Tacc3 |
T |
C |
5: 33,821,644 (GRCm39) |
S135P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,911,667 (GRCm39) |
E583G |
probably benign |
Het |
| Tmprss7 |
T |
A |
16: 45,498,282 (GRCm39) |
K366* |
probably null |
Het |
| Trpm6 |
G |
T |
19: 18,755,978 (GRCm39) |
V74L |
probably benign |
Het |
| Ttbk2 |
G |
T |
2: 120,575,986 (GRCm39) |
T997N |
probably benign |
Het |
| Utp25 |
C |
A |
1: 192,812,541 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,046 (GRCm39) |
I218F |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,592,557 (GRCm39) |
V730A |
probably damaging |
Het |
| Wdr47 |
A |
T |
3: 108,544,371 (GRCm39) |
I665F |
probably damaging |
Het |
| Wnt7a |
T |
A |
6: 91,343,297 (GRCm39) |
N195I |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,251,885 (GRCm39) |
|
probably benign |
Het |
| Zfp709 |
T |
A |
8: 72,643,669 (GRCm39) |
V366E |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,668,280 (GRCm39) |
C383S |
probably damaging |
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 |
|
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 |
|
X0066:Gab1
|
UTSW |
8 |
81,606,193 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAATGGTGTCCAGCTTTG -3'
(R):5'- GCCCACCTTTTCTGAGACAGAC -3'
Sequencing Primer
(F):5'- AGCTTTGATGACTGTCCCAG -3'
(R):5'- CCTTTTCTGAGACAGACTGCAATGAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation