Incidental Mutation 'IGL02270:Garem1'
| ID |
287094 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Garem1
|
| Ensembl Gene |
ENSMUSG00000042680 |
| Gene Name |
GRB2 associated regulator of MAPK1 subtype 1 |
| Synonyms |
LOC381126, Garem, Fam59a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
IGL02270
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
21260399-21433196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21281507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 283
(V283A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049260]
|
| AlphaFold |
Q3UFT3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049260
AA Change: V283A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: V283A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CABIT
|
32 |
318 |
3.4e-79 |
PFAM |
|
low complexity region
|
484 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
518 |
N/A |
INTRINSIC |
|
PDB:2DKZ|A
|
795 |
874 |
2e-40 |
PDB |
|
Blast:SAM
|
808 |
875 |
2e-36 |
BLAST |
|
SCOP:d1kw4a_
|
812 |
873 |
4e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,707,314 (GRCm39) |
|
probably null |
Het |
| Bmi1 |
T |
A |
2: 18,689,269 (GRCm39) |
S318T |
probably benign |
Het |
| Cntnap5c |
G |
A |
17: 58,341,848 (GRCm39) |
V180I |
probably benign |
Het |
| Cyp2b10 |
A |
G |
7: 25,613,362 (GRCm39) |
E186G |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,465,708 (GRCm39) |
|
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,315,790 (GRCm39) |
F901L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,052 (GRCm39) |
N3003I |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,476,402 (GRCm39) |
D124G |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 76,995,139 (GRCm39) |
I1144N |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,556,961 (GRCm39) |
V489I |
possibly damaging |
Het |
| Gfra2 |
G |
A |
14: 71,163,347 (GRCm39) |
R210H |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,901,371 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
A |
T |
14: 51,759,341 (GRCm39) |
M107L |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,229,479 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,300,361 (GRCm39) |
D1558N |
probably damaging |
Het |
| Mylk4 |
A |
G |
13: 32,913,049 (GRCm39) |
|
probably benign |
Het |
| Or14j9 |
G |
T |
17: 37,874,471 (GRCm39) |
H244N |
possibly damaging |
Het |
| Or1e16 |
A |
G |
11: 73,286,191 (GRCm39) |
V219A |
probably benign |
Het |
| Or52n5 |
A |
G |
7: 104,588,576 (GRCm39) |
N281S |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,630 (GRCm39) |
C146S |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,823,368 (GRCm39) |
R480G |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,835,416 (GRCm39) |
E185G |
probably damaging |
Het |
| S1pr3 |
T |
C |
13: 51,573,092 (GRCm39) |
I91T |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,728,398 (GRCm39) |
T104A |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,215,357 (GRCm39) |
D419G |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,684,398 (GRCm39) |
I19V |
probably benign |
Het |
| Sycp1 |
C |
A |
3: 102,803,259 (GRCm39) |
C517F |
probably benign |
Het |
| Trav15-1-dv6-1 |
G |
A |
14: 53,797,455 (GRCm39) |
E35K |
possibly damaging |
Het |
| Vmn1r121 |
T |
C |
7: 20,832,401 (GRCm39) |
E13G |
probably damaging |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,176 (GRCm39) |
S114T |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,686,950 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Garem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Garem1
|
APN |
18 |
21,281,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01588:Garem1
|
APN |
18 |
21,262,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02171:Garem1
|
APN |
18 |
21,262,298 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03149:Garem1
|
APN |
18 |
21,264,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Garem1
|
UTSW |
18 |
21,263,048 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0285:Garem1
|
UTSW |
18 |
21,262,669 (GRCm39) |
missense |
probably benign |
|
|
R0361:Garem1
|
UTSW |
18 |
21,432,801 (GRCm39) |
nonsense |
probably null |
|
|
R1068:Garem1
|
UTSW |
18 |
21,301,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1537:Garem1
|
UTSW |
18 |
21,301,931 (GRCm39) |
splice site |
probably null |
|
|
R1726:Garem1
|
UTSW |
18 |
21,281,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1826:Garem1
|
UTSW |
18 |
21,262,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2140:Garem1
|
UTSW |
18 |
21,262,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Garem1
|
UTSW |
18 |
21,281,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3937:Garem1
|
UTSW |
18 |
21,281,863 (GRCm39) |
nonsense |
probably null |
|
|
R4362:Garem1
|
UTSW |
18 |
21,369,172 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4441:Garem1
|
UTSW |
18 |
21,301,807 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4747:Garem1
|
UTSW |
18 |
21,263,000 (GRCm39) |
missense |
probably benign |
|
|
R4814:Garem1
|
UTSW |
18 |
21,281,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Garem1
|
UTSW |
18 |
21,262,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4838:Garem1
|
UTSW |
18 |
21,280,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5805:Garem1
|
UTSW |
18 |
21,281,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5963:Garem1
|
UTSW |
18 |
21,262,487 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5982:Garem1
|
UTSW |
18 |
21,281,408 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6134:Garem1
|
UTSW |
18 |
21,262,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6242:Garem1
|
UTSW |
18 |
21,262,229 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6453:Garem1
|
UTSW |
18 |
21,281,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6485:Garem1
|
UTSW |
18 |
21,262,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6596:Garem1
|
UTSW |
18 |
21,281,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6662:Garem1
|
UTSW |
18 |
21,281,304 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6883:Garem1
|
UTSW |
18 |
21,262,769 (GRCm39) |
missense |
probably benign |
|
|
R6937:Garem1
|
UTSW |
18 |
21,280,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7027:Garem1
|
UTSW |
18 |
21,263,051 (GRCm39) |
missense |
probably benign |
|
|
R7256:Garem1
|
UTSW |
18 |
21,281,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7534:Garem1
|
UTSW |
18 |
21,432,973 (GRCm39) |
start gained |
probably benign |
|
|
R7620:Garem1
|
UTSW |
18 |
21,262,898 (GRCm39) |
missense |
probably benign |
|
|
R7869:Garem1
|
UTSW |
18 |
21,432,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7963:Garem1
|
UTSW |
18 |
21,281,844 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8058:Garem1
|
UTSW |
18 |
21,281,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8953:Garem1
|
UTSW |
18 |
21,264,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9273:Garem1
|
UTSW |
18 |
21,281,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9411:Garem1
|
UTSW |
18 |
21,369,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9475:Garem1
|
UTSW |
18 |
21,281,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9789:Garem1
|
UTSW |
18 |
21,262,985 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Garem1
|
UTSW |
18 |
21,281,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Garem1
|
UTSW |
18 |
21,262,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation