Incidental Mutation 'RF012:Gab3'
| ID |
603307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gab3
|
| Ensembl Gene |
ENSMUSG00000032750 |
| Gene Name |
growth factor receptor bound protein 2-associated protein 3 |
| Synonyms |
5930433H21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF012 (G1)
|
| Quality Score |
168.468 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
74032151-74128511 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
TCT to TCTGCT
at 74043626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037374]
[ENSMUST00000114104]
[ENSMUST00000114109]
|
| AlphaFold |
Q8BSM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037374
|
| SMART Domains |
Protein: ENSMUSP00000041951
Gene: ENSMUSG00000032750
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
119 |
3.2e-21 |
SMART |
|
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
coiled coil region
|
494 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114104
|
| SMART Domains |
Protein: ENSMUSP00000109739
Gene: ENSMUSG00000032750
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
119 |
3.2e-21 |
SMART |
|
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114109
|
| SMART Domains |
Protein: ENSMUSP00000109744
Gene: ENSMUSG00000032750
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
coiled coil region
|
97 |
123 |
N/A |
INTRINSIC |
|
Pfam:Pcc1
|
170 |
228 |
1.1e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
89% (56/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Females homozygous and males hemizygous for disruptions in this X-linked gene developed normally, exhibted normal hematopoiesis, and were immunocompetent. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,453,552 (GRCm39) |
L123Q |
probably damaging |
Het |
| AI837181 |
GCG |
GCGTCG |
19: 5,475,255 (GRCm39) |
|
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,645,125 (GRCm39) |
N242I |
probably damaging |
Het |
| Ankrd7 |
G |
C |
6: 18,869,274 (GRCm39) |
E194Q |
possibly damaging |
Het |
| Ano3 |
A |
G |
2: 110,527,868 (GRCm39) |
F517L |
possibly damaging |
Het |
| Arhgef4 |
CAAA |
C |
1: 34,763,565 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
AGACGACGA |
AGACGA |
4: 133,480,131 (GRCm39) |
|
probably benign |
Het |
| Atp2c2 |
G |
T |
8: 120,472,253 (GRCm39) |
A436S |
possibly damaging |
Het |
| BC004004 |
T |
A |
17: 29,501,782 (GRCm39) |
V107E |
probably benign |
Het |
| Begain |
CGCCGC |
CGCCGCAGCCGC |
12: 108,999,353 (GRCm39) |
|
probably benign |
Het |
| Cad |
GT |
G |
5: 31,217,556 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,112,909 (GRCm39) |
T122S |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,327,697 (GRCm39) |
S501G |
possibly damaging |
Het |
| Col6a3 |
A |
C |
1: 90,738,282 (GRCm39) |
L1079R |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,542,336 (GRCm39) |
K346E |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,908,694 (GRCm39) |
N325D |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,262,375 (GRCm39) |
E2881G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
| Dnai2 |
A |
T |
11: 114,641,242 (GRCm39) |
I356F |
probably damaging |
Het |
| Dusp4 |
ACGGCGGCGGCGGC |
ACGGCGGCGGC |
8: 35,274,953 (GRCm39) |
|
probably benign |
Het |
| Efhb |
T |
C |
17: 53,720,545 (GRCm39) |
N647D |
probably damaging |
Het |
| Efhd2 |
CCG |
CCGACGGCG |
4: 141,602,079 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
G |
4: 129,485,872 (GRCm39) |
Y318H |
probably damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,847 (GRCm39) |
H80R |
probably damaging |
Het |
| Gne |
G |
T |
4: 44,060,045 (GRCm39) |
A147D |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,901,902 (GRCm39) |
H538Q |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,122,214 (GRCm39) |
H229R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,183,447 (GRCm39) |
V41A |
probably damaging |
Het |
| Krtap28-10 |
GCCACA |
GCCACACCCACA |
1: 83,019,857 (GRCm39) |
|
probably benign |
Het |
| Lipa |
A |
T |
19: 34,486,498 (GRCm39) |
S141R |
probably damaging |
Het |
| Medag |
G |
T |
5: 149,335,459 (GRCm39) |
C6F |
probably benign |
Het |
| Nefh |
GGCCTCT |
GGCCTCTCCTGGGGACTTTGCCTCT |
11: 4,891,055 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,030 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCTGGG |
GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG |
11: 4,891,032 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,432,784 (GRCm39) |
I482M |
probably damaging |
Het |
| Or12e14 |
A |
T |
2: 87,677,103 (GRCm39) |
I163L |
probably benign |
Het |
| Pgf |
T |
C |
12: 85,216,316 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
TTTT |
TTTTTTTTTTTATTT |
15: 44,421,901 (GRCm39) |
|
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,740,800 (GRCm39) |
T134I |
unknown |
Het |
| Pramel32 |
T |
A |
4: 88,546,006 (GRCm39) |
R445S |
probably damaging |
Het |
| Prss52 |
A |
G |
14: 64,350,922 (GRCm39) |
S236G |
probably damaging |
Het |
| Rpsa |
A |
G |
9: 119,960,105 (GRCm39) |
T223A |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,585 (GRCm39) |
N686S |
probably benign |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
T |
19: 7,903,949 (GRCm39) |
G63S |
probably benign |
Het |
| Tmcc2 |
G |
T |
1: 132,288,756 (GRCm39) |
N310K |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,729,961 (GRCm39) |
L263Q |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,973,281 (GRCm39) |
S16P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,543,915 (GRCm39) |
T33024A |
probably benign |
Het |
| Usp2 |
A |
ACATGTGACCTGTTCTTCACTTACT |
9: 44,000,427 (GRCm39) |
|
probably benign |
Het |
| Was |
CTCCTCCT |
C |
X: 7,952,470 (GRCm39) |
|
probably null |
Het |
| Zfp672 |
A |
G |
11: 58,206,938 (GRCm39) |
V461A |
probably benign |
Het |
|
| Other mutations in Gab3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Gab3
|
APN |
X |
74,048,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0894:Gab3
|
UTSW |
X |
74,077,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Gab3
|
UTSW |
X |
74,043,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Gab3
|
UTSW |
X |
74,043,585 (GRCm39) |
small insertion |
probably benign |
|
|
R9092:Gab3
|
UTSW |
X |
74,043,612 (GRCm39) |
small insertion |
probably benign |
|
|
R9092:Gab3
|
UTSW |
X |
74,043,602 (GRCm39) |
small insertion |
probably benign |
|
|
R9096:Gab3
|
UTSW |
X |
74,043,610 (GRCm39) |
small insertion |
probably benign |
|
|
RF001:Gab3
|
UTSW |
X |
74,043,624 (GRCm39) |
small insertion |
probably benign |
|
|
RF003:Gab3
|
UTSW |
X |
74,043,612 (GRCm39) |
nonsense |
probably null |
|
|
RF006:Gab3
|
UTSW |
X |
74,043,633 (GRCm39) |
small insertion |
probably benign |
|
|
RF007:Gab3
|
UTSW |
X |
74,043,631 (GRCm39) |
small insertion |
probably benign |
|
|
RF007:Gab3
|
UTSW |
X |
74,043,602 (GRCm39) |
small insertion |
probably benign |
|
|
RF007:Gab3
|
UTSW |
X |
74,043,617 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Gab3
|
UTSW |
X |
74,043,630 (GRCm39) |
nonsense |
probably null |
|
|
RF009:Gab3
|
UTSW |
X |
74,043,598 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Gab3
|
UTSW |
X |
74,043,617 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Gab3
|
UTSW |
X |
74,043,591 (GRCm39) |
nonsense |
probably null |
|
|
RF020:Gab3
|
UTSW |
X |
74,043,623 (GRCm39) |
small insertion |
probably benign |
|
|
RF022:Gab3
|
UTSW |
X |
74,043,600 (GRCm39) |
nonsense |
probably null |
|
|
RF025:Gab3
|
UTSW |
X |
74,043,614 (GRCm39) |
small insertion |
probably benign |
|
|
RF026:Gab3
|
UTSW |
X |
74,043,629 (GRCm39) |
small insertion |
probably benign |
|
|
RF026:Gab3
|
UTSW |
X |
74,043,596 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Gab3
|
UTSW |
X |
74,043,623 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Gab3
|
UTSW |
X |
74,043,606 (GRCm39) |
nonsense |
probably null |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,631 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,632 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,583 (GRCm39) |
small deletion |
probably benign |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,611 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,614 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Gab3
|
UTSW |
X |
74,043,607 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Gab3
|
UTSW |
X |
74,043,603 (GRCm39) |
nonsense |
probably null |
|
|
RF031:Gab3
|
UTSW |
X |
74,043,602 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Gab3
|
UTSW |
X |
74,043,629 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Gab3
|
UTSW |
X |
74,043,607 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Gab3
|
UTSW |
X |
74,043,610 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Gab3
|
UTSW |
X |
74,043,633 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Gab3
|
UTSW |
X |
74,043,628 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Gab3
|
UTSW |
X |
74,043,611 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Gab3
|
UTSW |
X |
74,043,611 (GRCm39) |
small insertion |
probably benign |
|
|
RF047:Gab3
|
UTSW |
X |
74,043,599 (GRCm39) |
small insertion |
probably benign |
|
|
RF052:Gab3
|
UTSW |
X |
74,043,589 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Gab3
|
UTSW |
X |
74,043,616 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Gab3
|
UTSW |
X |
74,043,593 (GRCm39) |
small insertion |
probably benign |
|
|
RF058:Gab3
|
UTSW |
X |
74,043,608 (GRCm39) |
small insertion |
probably benign |
|
|
RF059:Gab3
|
UTSW |
X |
74,043,596 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Gab3
|
UTSW |
X |
74,043,619 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGTGACCTGGTTTTATAATAAGCC -3'
(R):5'- TTTGGAAGGAACAGGCTCAAAC -3'
Sequencing Primer
(F):5'- AAGCCATTCTTTATGACTGCACAC -3'
(R):5'- GGCTCAAACCCCACAGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation