Incidental Mutation 'RF006:Gab3'
ID |
602855 |
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 # |
RF006 (G1)
|
Quality Score |
110.467 |
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) |
CTT to CTTTTT
at 74043633 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: 99.3%
- 20x: 98.5%
|
Validation Efficiency |
97% (36/37) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd7 |
GTT |
GT |
2: 3,341,736 (GRCm39) |
|
probably null |
Het |
Acp7 |
A |
T |
7: 28,314,204 (GRCm39) |
N330K |
possibly damaging |
Het |
Adam25 |
A |
T |
8: 41,208,834 (GRCm39) |
H700L |
probably benign |
Het |
Alg9 |
GGGTGG |
GGGTGGTGG |
9: 50,686,717 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
A |
T |
10: 80,362,070 (GRCm39) |
V689E |
probably benign |
Het |
Atxn2l |
A |
G |
7: 126,095,063 (GRCm39) |
V533A |
probably benign |
Het |
Catsperb |
G |
A |
12: 101,542,238 (GRCm39) |
|
probably null |
Het |
Ccdc121 |
C |
T |
5: 31,644,894 (GRCm39) |
Q216* |
probably null |
Het |
Ccdc13 |
T |
C |
9: 121,643,273 (GRCm39) |
K376R |
probably damaging |
Het |
Ccdc170 |
C |
CCAA |
10: 4,511,030 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
G |
C |
15: 16,855,916 (GRCm39) |
R652P |
probably damaging |
Het |
Cenpf |
A |
C |
1: 189,389,583 (GRCm39) |
C1416W |
probably damaging |
Het |
Chga |
GCA |
GCATCA |
12: 102,527,671 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
TGTGACAGACACACTGCCCAGGGAAG |
TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG |
9: 86,922,478 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCCAGGGA |
CCCAGGGATGTGAGAGACACGCTGGCCAGGGA |
9: 86,922,494 (GRCm39) |
|
probably benign |
Het |
Dennd3 |
T |
C |
15: 73,419,441 (GRCm39) |
I744T |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,029,832 (GRCm39) |
R491Q |
probably benign |
Het |
Eif4a2 |
A |
T |
16: 22,929,028 (GRCm39) |
M188L |
possibly damaging |
Het |
Esf1 |
CTCCTCTTC |
CTC |
2: 140,006,294 (GRCm39) |
|
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,913 (GRCm39) |
I2030V |
probably benign |
Het |
Gins4 |
A |
T |
8: 23,717,183 (GRCm39) |
V195E |
possibly damaging |
Het |
Gm17402 |
TCCTCCTCC |
TCCTCCTCCCCCTCCTCC |
3: 67,272,892 (GRCm39) |
|
probably benign |
Het |
Gm17604 |
CTCTCTTTC |
CTC |
X: 163,786,814 (GRCm39) |
|
probably null |
Het |
Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,128 (GRCm39) |
|
probably benign |
Het |
Gnpnat1 |
T |
A |
14: 45,620,900 (GRCm39) |
|
probably null |
Het |
Inpp4a |
A |
C |
1: 37,427,908 (GRCm39) |
N651T |
possibly damaging |
Het |
Ireb2 |
T |
C |
9: 54,788,768 (GRCm39) |
F81L |
possibly damaging |
Het |
Kcnh3 |
T |
A |
15: 99,137,809 (GRCm39) |
|
probably null |
Het |
Kmt2b |
CTCCTC |
CTCCTCATCCTC |
7: 30,285,802 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
TG |
TGCTGTGG |
5: 25,520,770 (GRCm39) |
|
probably benign |
Het |
Myt1 |
T |
C |
2: 181,439,566 (GRCm39) |
S405P |
probably damaging |
Het |
Net1 |
T |
C |
13: 3,937,406 (GRCm39) |
T245A |
probably benign |
Het |
Nkx2-1 |
T |
C |
12: 56,580,332 (GRCm39) |
T203A |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,912,165 (GRCm39) |
E75G |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,242,110 (GRCm39) |
D1491E |
probably benign |
Het |
Pkhd1l1 |
C |
A |
15: 44,366,634 (GRCm39) |
T704K |
probably benign |
Het |
Pkhd1l1 |
TT |
TTTTTTTTTGT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
Plscr1l1 |
A |
T |
9: 92,234,702 (GRCm39) |
I146F |
possibly damaging |
Het |
Ppp1r8 |
TCTCTCAC |
TC |
4: 132,557,928 (GRCm39) |
|
probably benign |
Het |
Ppp2r3c |
T |
A |
12: 55,340,600 (GRCm39) |
I157F |
probably benign |
Het |
Pramel34 |
A |
T |
5: 93,784,562 (GRCm39) |
C301S |
probably benign |
Het |
Rspo4 |
C |
T |
2: 151,709,797 (GRCm39) |
|
probably null |
Het |
Rtn4 |
T |
C |
11: 29,656,919 (GRCm39) |
S358P |
possibly damaging |
Het |
Siglecg |
T |
A |
7: 43,058,288 (GRCm39) |
Y58* |
probably null |
Het |
Slc4a1 |
C |
T |
11: 102,247,542 (GRCm39) |
|
probably null |
Het |
Slc9b1 |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
3: 135,063,303 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
A |
4: 52,442,276 (GRCm39) |
D64E |
probably benign |
Het |
Spaca1 |
CTCGC |
CTCGCTATCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
Srrm2 |
A |
G |
17: 24,031,562 (GRCm39) |
S236G |
unknown |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Strn |
TGCTCCCTTACCCCAGTC |
TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC |
17: 78,984,700 (GRCm39) |
|
probably null |
Het |
Tfeb |
CAG |
CAGGAG |
17: 48,097,038 (GRCm39) |
|
probably benign |
Het |
Tktl2 |
A |
T |
8: 66,965,504 (GRCm39) |
E354V |
probably benign |
Het |
Tpte |
A |
G |
8: 22,796,959 (GRCm39) |
T94A |
probably benign |
Het |
Usp40 |
A |
C |
1: 87,894,917 (GRCm39) |
S868A |
possibly damaging |
Het |
Vmn2r24 |
G |
A |
6: 123,783,378 (GRCm39) |
C526Y |
probably damaging |
Het |
Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,486,383 (GRCm39) |
|
probably null |
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 |
|
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 |
|
RF012:Gab3
|
UTSW |
X |
74,043,626 (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'- CCGGTGACCTGGTTTTATAATAAGC -3'
(R):5'- TTTGGAAGGAACAGGCTCAAACC -3'
Sequencing Primer
(F):5'- AAGCCATTCTTTATGACTGCACAC -3'
(R):5'- CCCACAGGGCTGTCTGTTC -3'
|
Posted On |
2019-12-04 |