Incidental Mutation 'R6217:Gab1'
| ID |
503785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gab1
|
| Ensembl Gene |
ENSMUSG00000031714 |
| Gene Name |
growth factor receptor bound protein 2-associated protein 1 |
| Synonyms |
|
| MMRRC Submission |
044350-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
81491067-81607148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81518237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 125
(V125A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034150]
[ENSMUST00000210676]
|
| AlphaFold |
Q9QYY0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034150
AA Change: V125A
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: V125A
| 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: V125A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211018
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (59/61) |
| 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 |
|---|
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,236,596 (GRCm39) |
D808G |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,239,935 (GRCm39) |
Q46L |
unknown |
Het |
| Asnsd1 |
A |
G |
1: 53,387,187 (GRCm39) |
F147L |
probably benign |
Het |
| Atp5f1a |
T |
A |
18: 77,869,056 (GRCm39) |
S427T |
probably benign |
Het |
| Atp6v1b2 |
A |
C |
8: 69,562,530 (GRCm39) |
|
probably null |
Het |
| AU021092 |
T |
A |
16: 5,030,050 (GRCm39) |
T322S |
possibly damaging |
Het |
| Bcl7c |
A |
T |
7: 127,307,698 (GRCm39) |
M1K |
probably null |
Het |
| Cacna1i |
T |
C |
15: 80,273,333 (GRCm39) |
V1673A |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,522,900 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
A |
G |
5: 107,120,660 (GRCm39) |
D122G |
probably damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,236,361 (GRCm39) |
Q1950L |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,748,436 (GRCm39) |
L111S |
probably damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,406,398 (GRCm39) |
F458L |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,856,971 (GRCm39) |
|
probably null |
Het |
| Dstyk |
T |
C |
1: 132,387,677 (GRCm39) |
S804P |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,531,261 (GRCm39) |
D283G |
possibly damaging |
Het |
| Exosc10 |
A |
G |
4: 148,666,768 (GRCm39) |
|
probably null |
Het |
| Fancg |
A |
C |
4: 43,010,084 (GRCm39) |
V5G |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,332 (GRCm39) |
V394A |
probably benign |
Het |
| Fcmr |
C |
T |
1: 130,806,060 (GRCm39) |
R339W |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,829,198 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
| Gabrr1 |
A |
T |
4: 33,149,026 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
C |
3: 88,799,968 (GRCm39) |
V871A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,267,559 (GRCm39) |
T2056A |
probably damaging |
Het |
| Lrrc3 |
T |
A |
10: 77,736,843 (GRCm39) |
T198S |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,954,675 (GRCm39) |
E174V |
possibly damaging |
Het |
| Ltbr |
C |
T |
6: 125,284,417 (GRCm39) |
V342M |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,566,742 (GRCm39) |
S1926T |
unknown |
Het |
| Ntn1 |
C |
A |
11: 68,104,158 (GRCm39) |
V497F |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,279 (GRCm39) |
L130Q |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,877 (GRCm39) |
D19G |
probably benign |
Het |
| Or8g22 |
A |
T |
9: 38,958,039 (GRCm39) |
*270R |
probably null |
Het |
| Osmr |
T |
C |
15: 6,853,047 (GRCm39) |
Y615C |
probably damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,823,054 (GRCm39) |
V15A |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,547,733 (GRCm39) |
N162S |
probably benign |
Het |
| Ppp1r12a |
G |
A |
10: 108,076,045 (GRCm39) |
|
probably null |
Het |
| Prss59 |
G |
A |
6: 40,903,019 (GRCm39) |
P118S |
possibly damaging |
Het |
| Prtg |
C |
T |
9: 72,812,076 (GRCm39) |
P899S |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,810 (GRCm39) |
S912R |
probably damaging |
Het |
| Rex2 |
A |
G |
4: 147,141,931 (GRCm39) |
T140A |
possibly damaging |
Het |
| Ryr2 |
T |
G |
13: 11,848,964 (GRCm39) |
D339A |
probably damaging |
Het |
| Sf3b1 |
C |
T |
1: 55,046,677 (GRCm39) |
R289H |
probably damaging |
Het |
| Slc17a9 |
A |
G |
2: 180,379,455 (GRCm39) |
D309G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,134,295 (GRCm39) |
R1004G |
probably benign |
Het |
| Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
| Syne1 |
C |
T |
10: 5,243,761 (GRCm39) |
G2801D |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,746,700 (GRCm39) |
V1026D |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,577,730 (GRCm39) |
I455N |
probably damaging |
Het |
| Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,895,096 (GRCm39) |
E714G |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,475,651 (GRCm39) |
|
probably null |
Het |
| Usp19 |
G |
A |
9: 108,377,343 (GRCm39) |
V874M |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,501 (GRCm39) |
T633A |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,815,375 (GRCm39) |
|
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,178,016 (GRCm39) |
V386A |
probably damaging |
Het |
| Zscan20 |
A |
T |
4: 128,498,327 (GRCm39) |
W24R |
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 |
|
|
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'- TGCTTTGACAGTTGATCAGCAAG -3'
(R):5'- GGCTGACCTTCTTCAGATGTC -3'
Sequencing Primer
(F):5'- CAGTTGATCAGCAAGAGGTAGTC -3'
(R):5'- TCAGTCTTCAGAATAGCTGGCAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation