Incidental Mutation 'R1240:Gab1'
| ID |
151939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gab1
|
| Ensembl Gene |
ENSMUSG00000031714 |
| Gene Name |
growth factor receptor bound protein 2-associated protein 1 |
| Synonyms |
|
| MMRRC Submission |
039307-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1240 (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 81515159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 386
(S386R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034150]
[ENSMUST00000210676]
|
| AlphaFold |
Q9QYY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034150
AA Change: S386R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: S386R
| 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 |
possibly damaging
Transcript: ENSMUST00000210676
AA Change: S386R
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211018
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
G |
5: 124,227,984 (GRCm39) |
I86L |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,282,960 (GRCm39) |
L229P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,549 (GRCm39) |
S164P |
probably benign |
Het |
| Arhgef28 |
C |
T |
13: 98,066,000 (GRCm39) |
V1618I |
probably benign |
Het |
| Arpc3 |
T |
C |
5: 122,542,242 (GRCm39) |
F88S |
probably damaging |
Het |
| Asgr2 |
G |
T |
11: 69,987,676 (GRCm39) |
R58L |
possibly damaging |
Het |
| Bach2 |
T |
C |
4: 32,563,198 (GRCm39) |
F432S |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,891,293 (GRCm39) |
R116S |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,245,879 (GRCm39) |
C179S |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,906 (GRCm39) |
E618D |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,057,541 (GRCm39) |
D260V |
possibly damaging |
Het |
| Cenpc1 |
G |
T |
5: 86,183,369 (GRCm39) |
N473K |
probably benign |
Het |
| Chst2 |
T |
C |
9: 95,287,536 (GRCm39) |
E270G |
possibly damaging |
Het |
| Chst9 |
C |
T |
18: 15,586,231 (GRCm39) |
E111K |
probably benign |
Het |
| Cyp3a44 |
T |
G |
5: 145,711,250 (GRCm39) |
I474L |
probably benign |
Het |
| Dbr1 |
G |
T |
9: 99,466,073 (GRCm39) |
E550D |
probably benign |
Het |
| Dph6 |
T |
C |
2: 114,475,199 (GRCm39) |
|
probably null |
Het |
| Fam227b |
T |
A |
2: 125,966,505 (GRCm39) |
I136L |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,950 (GRCm39) |
N2559S |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,581 (GRCm39) |
I435N |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,326,098 (GRCm39) |
N31Y |
probably damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,707 (GRCm39) |
C251R |
probably damaging |
Het |
| H2-DMa |
G |
T |
17: 34,357,380 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
T |
C |
4: 137,957,009 (GRCm39) |
S63P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,581,174 (GRCm39) |
|
probably null |
Het |
| Inf2 |
G |
A |
12: 112,577,210 (GRCm39) |
R1018Q |
unknown |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Klhl30 |
T |
C |
1: 91,288,737 (GRCm39) |
S499P |
probably benign |
Het |
| Lama2 |
A |
C |
10: 26,917,120 (GRCm39) |
D2268E |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,964,626 (GRCm39) |
N258S |
possibly damaging |
Het |
| Mc1r |
T |
A |
8: 124,134,999 (GRCm39) |
C251S |
probably damaging |
Het |
| Myo15b |
C |
A |
11: 115,771,327 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,456,176 (GRCm39) |
F2431S |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,186,321 (GRCm39) |
H917L |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,004,292 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
A |
T |
14: 18,211,891 (GRCm38) |
M404K |
probably benign |
Het |
| Or4b1d |
T |
G |
2: 89,969,157 (GRCm39) |
I109L |
possibly damaging |
Het |
| Or8u8 |
T |
G |
2: 86,012,453 (GRCm39) |
M1L |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,713 (GRCm39) |
S1040P |
probably benign |
Het |
| Pctp |
T |
C |
11: 89,893,640 (GRCm39) |
D10G |
probably benign |
Het |
| Pja2 |
G |
T |
17: 64,616,613 (GRCm39) |
T94K |
probably benign |
Het |
| Plxna1 |
C |
T |
6: 89,298,032 (GRCm39) |
V1749M |
probably damaging |
Het |
| Prdm15 |
C |
T |
16: 97,638,800 (GRCm39) |
E87K |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,660,937 (GRCm39) |
F1028L |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,818,021 (GRCm39) |
N252S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc22a22 |
G |
A |
15: 57,114,268 (GRCm39) |
S353F |
probably benign |
Het |
| Slc49a4 |
A |
G |
16: 35,518,379 (GRCm39) |
F445L |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,819,212 (GRCm39) |
K137N |
probably damaging |
Het |
| Snx13 |
G |
T |
12: 35,141,405 (GRCm39) |
V163L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,914,182 (GRCm39) |
T1115S |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,740,928 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,815 (GRCm39) |
F229L |
probably benign |
Het |
| Tg |
T |
A |
15: 66,700,397 (GRCm39) |
N118K |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,541,916 (GRCm39) |
K153E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,466,821 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,675,061 (GRCm39) |
D1953G |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,864 (GRCm39) |
S137C |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,580,271 (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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGCTAGGATCTAAGTGTAGGTGC -3'
(R):5'- TGTTGCCAAAGGAATCCCCATCAAG -3'
Sequencing Primer
(F):5'- TGCTATACTTGGGCAGAAAAGG -3'
(R):5'- GGGGAGCTGTACACCTTTAAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation