Incidental Mutation 'RF047:Gab3'
| ID |
605067 |
| 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 # |
RF047 (G1)
|
| Quality Score |
122.467 |
|
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) |
TCT to TCTGCT
at 74043599 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: 98.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
AAGA |
AA |
5: 8,946,595 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,970 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
TTATTTAT |
TTATTTATTTCTGTATTTAT |
9: 78,619,809 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,973,818 (GRCm39) |
G2832V |
probably damaging |
Het |
| Dnmt1 |
GAGCACAGTTCCTACCTCGTT |
GAGCACAGTTCCTACCTCGTTTTGGGGGCGTAGCACAGTTCCTACCTCGTT |
9: 20,821,421 (GRCm39) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,659 (GRCm39) |
|
probably benign |
Het |
| Gabre |
C |
CTGGCTA |
X: 71,314,371 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GAGGGAGGA |
GAGGGAGGAAGGCTGGATCCTGGATACCTGGGTCTTAGGGAGGA |
7: 44,149,953 (GRCm39) |
|
probably null |
Het |
| Garin5a |
G |
GCAGGGTGGATCCTGGATACCTGGGTCTGCGGGAGT |
7: 44,149,960 (GRCm39) |
|
probably null |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,037 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
CCTTTTCC |
CCTTTTCCGTTTCCTTTTCCTTTTCCTTTGCCTTTTGCTTTTCC |
9: 106,447,811 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
5: 25,520,758 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCAACA |
X: 70,162,445 (GRCm39) |
|
probably benign |
Het |
| Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GCCTCACCTGGGGACTTG |
GCCTCACCTGGGGACTTGTCCTCACCTGGGGACTTG |
11: 4,891,038 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Pnma8a |
TACCTCATGATGCACCTGCTTCAACA |
TACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA |
7: 16,695,348 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
AGCAGCA |
AGCAGCACCAGCCGCAGCA |
5: 28,599,160 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
CAGCAGCAGCAGCA |
CAGCAGCAGCAGCAGCAGCA |
19: 26,608,405 (GRCm39) |
|
probably benign |
Het |
| Strn |
GTGCTCCCTTACCCCAGTC |
GTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCTTGCTCCCTTACCCCAGTC |
17: 78,984,699 (GRCm39) |
|
probably null |
Het |
| Strn |
TCCCTTACCCCAGTC |
TCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCCCCCTTACCCCAGTC |
17: 78,984,703 (GRCm39) |
|
probably null |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,031 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
C |
CAGA |
17: 48,097,041 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
CATCTTCCG |
CATCTTCCGAATCTTCCG |
4: 45,107,974 (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 |
74,043,632 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,611 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,583 (GRCm39) |
small deletion |
probably benign |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,614 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Gab3
|
UTSW |
X |
74,043,631 (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 |
|
|
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'- CGGTGACCTGGTTTTATAATAAGCC -3'
(R):5'- TTTGGAAGGAACAGGCTCAAACC -3'
Sequencing Primer
(F):5'- AAGCCATTCTTTATGACTGCACAC -3'
(R):5'- CCACAGGGCTGTCTGTTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation