Incidental Mutation 'IGL03149:Garem1'
| ID |
411040 |
| 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 # |
IGL03149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
21260399-21433196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21264523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 534
(P534T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049260]
|
| AlphaFold |
Q3UFT3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049260
AA Change: P534T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: P534T
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
A |
G |
8: 78,136,167 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,008,085 (GRCm39) |
I546T |
possibly damaging |
Het |
| Arsj |
A |
T |
3: 126,233,053 (GRCm39) |
|
probably benign |
Het |
| Ash2l |
A |
G |
8: 26,308,650 (GRCm39) |
V543A |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,208,555 (GRCm39) |
|
probably benign |
Het |
| Blvra |
T |
A |
2: 126,924,871 (GRCm39) |
V11E |
probably damaging |
Het |
| Calcb |
T |
C |
7: 114,319,371 (GRCm39) |
L51P |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,025,563 (GRCm39) |
K52N |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,229,982 (GRCm39) |
N857S |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,791,502 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,470,295 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,674 (GRCm39) |
L283H |
probably damaging |
Het |
| Ctc1 |
T |
C |
11: 68,921,987 (GRCm39) |
V811A |
possibly damaging |
Het |
| Ctsk |
T |
C |
3: 95,408,730 (GRCm39) |
S65P |
possibly damaging |
Het |
| Ddx51 |
A |
G |
5: 110,801,600 (GRCm39) |
N83D |
probably benign |
Het |
| Eci2 |
T |
C |
13: 35,172,296 (GRCm39) |
T146A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,977,671 (GRCm39) |
N629D |
possibly damaging |
Het |
| Etfbkmt |
A |
G |
6: 149,045,781 (GRCm39) |
E45G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,045,834 (GRCm39) |
N3951S |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
| Gm8237 |
A |
G |
14: 5,864,451 (GRCm38) |
I37T |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,494 (GRCm39) |
K13E |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,906,200 (GRCm39) |
C523* |
probably null |
Het |
| Klhl7 |
G |
A |
5: 24,364,687 (GRCm39) |
V574I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,856,029 (GRCm39) |
V2450A |
probably benign |
Het |
| Map3k6 |
A |
T |
4: 132,976,999 (GRCm39) |
I819F |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,401,074 (GRCm39) |
E891G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,355 (GRCm39) |
S63P |
probably damaging |
Het |
| Ndufaf7 |
C |
T |
17: 79,252,439 (GRCm39) |
R283C |
possibly damaging |
Het |
| Nepro |
G |
T |
16: 44,547,462 (GRCm39) |
A60S |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,119,445 (GRCm39) |
S354P |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,172 (GRCm39) |
|
probably null |
Het |
| Or52ad1 |
A |
T |
7: 102,996,056 (GRCm39) |
H26Q |
probably benign |
Het |
| Pacsin3 |
T |
A |
2: 91,091,852 (GRCm39) |
|
probably benign |
Het |
| Parp12 |
C |
T |
6: 39,091,165 (GRCm39) |
D142N |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,527 (GRCm39) |
D1449N |
probably damaging |
Het |
| Pcsk7 |
C |
T |
9: 45,820,778 (GRCm39) |
T70M |
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,733,263 (GRCm39) |
F280L |
probably benign |
Het |
| Ppm1k |
C |
A |
6: 57,501,759 (GRCm39) |
A135S |
probably damaging |
Het |
| Prkcq |
A |
T |
2: 11,237,356 (GRCm39) |
Y45F |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,187,076 (GRCm39) |
I385F |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,299,036 (GRCm39) |
N603D |
probably benign |
Het |
| Ptbp2 |
G |
T |
3: 119,514,074 (GRCm39) |
T501K |
possibly damaging |
Het |
| Ranbp17 |
C |
A |
11: 33,193,183 (GRCm39) |
R957L |
possibly damaging |
Het |
| Rasl10a |
T |
C |
11: 5,008,429 (GRCm39) |
Y42H |
possibly damaging |
Het |
| Serpina9 |
G |
A |
12: 103,974,869 (GRCm39) |
Q95* |
probably null |
Het |
| Serpinb1b |
C |
A |
13: 33,269,275 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Sgo2b |
T |
A |
8: 64,379,617 (GRCm39) |
M1072L |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,523,745 (GRCm39) |
V250A |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,730,018 (GRCm39) |
S303P |
probably damaging |
Het |
| Tbc1d2 |
A |
T |
4: 46,637,619 (GRCm39) |
I209N |
probably benign |
Het |
| Tmc4 |
T |
A |
7: 3,670,177 (GRCm39) |
I484L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,965,758 (GRCm39) |
E36K |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,041 (GRCm39) |
M391V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,526,740 (GRCm39) |
|
probably null |
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 |
|
IGL02270:Garem1
|
APN |
18 |
21,281,507 (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 |
2016-08-02 |
Incidental Mutation