Incidental Mutation 'RF033:Gab3'
| ID |
604471 |
| 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 # |
RF033 (G1)
|
| Quality Score |
192.468 |
|
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 74043629 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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGG |
GGGGGGG |
17: 5,045,860 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CCCGGGCACT |
C |
8: 21,433,904 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTG |
GTGAGTGTGCTGATG |
5: 110,525,991 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
TGG |
TGGTTGTGGCGG |
1: 82,938,246 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,025 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTCTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,179,913 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGGAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTTCAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Luzp1 |
A |
AGGTGTCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA |
2: 121,136,780 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,408 (GRCm39) |
|
probably benign |
Het |
| Nalf2 |
CG |
CGCCGCTG |
X: 98,864,979 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTG |
GGGGACTTGTCCTCACCTGGGACTTG |
11: 4,891,029 (GRCm39) |
|
probably null |
Het |
| Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GCAAGCTGAGA |
GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA |
2: 119,458,081 (GRCm39) |
|
probably benign |
Het |
| P4ha3 |
GGGGG |
GGGGGG |
7: 99,960,017 (GRCm39) |
|
probably null |
Het |
| Pdia4 |
ATCCTCTTCCTC |
ATC |
6: 47,785,222 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTT |
TTTTTTTTTTCTT |
15: 44,421,902 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
TTG |
TTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,002 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TG |
TGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,003 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
G |
GTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,004 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
GTATTG |
GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,937,999 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTG |
TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG |
2: 155,938,000 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAC |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TGTTT |
TGTTTGTTGGTTT |
4: 107,047,725 (GRCm39) |
|
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 |
|
|
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 |
74,043,607 (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'- AAGCCATTCTTTATGACTGCACAC -3'
(R):5'- CTTGGGCCAAAAGGAAGTTG -3'
Sequencing Primer
(F):5'- cacacacactaacacacac -3'
(R):5'- TGTTTGGAAGGAACAGGCTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation