Incidental Mutation 'R5963:Garem1'
| ID |
471911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garem1
|
| Ensembl Gene |
ENSMUSG00000042680 |
| Gene Name |
GRB2 associated regulator of MAPK1 subtype 1 |
| Synonyms |
Garem, Fam59a, LOC381126 |
| MMRRC Submission |
044148-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R5963 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
21127201-21300138 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21129430 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 776
(I776F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049260]
|
| AlphaFold |
Q3UFT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049260
AA Change: I776F
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: I776F
| 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 |
|
| Meta Mutation Damage Score |
0.0614 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
99% (68/69) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
A |
G |
7: 97,379,830 (GRCm38) |
K131E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,987,226 (GRCm38) |
L575* |
probably null |
Het |
| Aqr |
T |
C |
2: 114,126,961 (GRCm38) |
T819A |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,081,031 (GRCm38) |
S407T |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,375,593 (GRCm38) |
C272S |
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,334,218 (GRCm38) |
|
probably null |
Het |
| C5ar1 |
A |
G |
7: 16,248,822 (GRCm38) |
V91A |
possibly damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,575,757 (GRCm38) |
H649R |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,745,574 (GRCm38) |
V1451E |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,651,595 (GRCm38) |
M901L |
probably damaging |
Het |
| Cherp |
G |
T |
8: 72,461,535 (GRCm38) |
|
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,248,285 (GRCm38) |
V1229I |
possibly damaging |
Het |
| Fat4 |
A |
C |
3: 39,010,547 (GRCm38) |
D4884A |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,444,173 (GRCm38) |
F243L |
probably damaging |
Het |
| Gpr87 |
T |
A |
3: 59,179,269 (GRCm38) |
R272* |
probably null |
Het |
| Gsdmc |
A |
T |
15: 63,780,116 (GRCm38) |
|
probably null |
Het |
| Hydin |
T |
A |
8: 110,494,294 (GRCm38) |
F1441I |
possibly damaging |
Het |
| Ints11 |
T |
A |
4: 155,872,912 (GRCm38) |
C63* |
probably null |
Het |
| Kdm4b |
A |
T |
17: 56,399,732 (GRCm38) |
T908S |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,081,300 (GRCm38) |
D304G |
probably damaging |
Het |
| Man2a1 |
T |
G |
17: 64,675,122 (GRCm38) |
N544K |
probably benign |
Het |
| Mapkapk5 |
G |
T |
5: 121,538,481 (GRCm38) |
H66N |
probably damaging |
Het |
| Mog |
G |
A |
17: 37,012,348 (GRCm38) |
R233* |
probably null |
Het |
| Mrps24 |
A |
T |
11: 5,707,481 (GRCm38) |
|
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,437,770 (GRCm38) |
L423P |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,906,961 (GRCm38) |
V174E |
probably benign |
Het |
| Pcdha1 |
T |
A |
18: 36,931,171 (GRCm38) |
V296E |
probably damaging |
Het |
| Pdcd2 |
G |
T |
17: 15,526,395 (GRCm38) |
H167Q |
probably damaging |
Het |
| Pdcd2 |
T |
C |
17: 15,526,394 (GRCm38) |
K168E |
possibly damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,403,958 (GRCm38) |
V63D |
probably damaging |
Het |
| Pnn |
C |
T |
12: 59,067,831 (GRCm38) |
R56* |
probably null |
Het |
| Primpol |
T |
A |
8: 46,593,580 (GRCm38) |
E227V |
possibly damaging |
Het |
| Rad54l |
A |
T |
4: 116,110,387 (GRCm38) |
W233R |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,437,182 (GRCm38) |
D103V |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,073,695 (GRCm38) |
S1511P |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,624,212 (GRCm38) |
|
probably null |
Het |
| Simc1 |
T |
A |
13: 54,525,819 (GRCm38) |
I660K |
possibly damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,079,693 (GRCm38) |
L75P |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,682,036 (GRCm38) |
S55G |
possibly damaging |
Het |
| Slit3 |
C |
T |
11: 35,700,236 (GRCm38) |
R1292C |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 73,050,713 (GRCm38) |
V242A |
probably benign |
Het |
| St14 |
A |
T |
9: 31,106,557 (GRCm38) |
|
probably benign |
Het |
| Tnnt2 |
T |
C |
1: 135,843,862 (GRCm38) |
|
probably benign |
Het |
| Traf5 |
G |
A |
1: 192,000,016 (GRCm38) |
T288I |
probably benign |
Het |
| Trerf1 |
C |
T |
17: 47,314,337 (GRCm38) |
|
noncoding transcript |
Het |
| Vegfc |
A |
G |
8: 54,181,284 (GRCm38) |
N333D |
probably benign |
Het |
| Vmn1r65 |
T |
A |
7: 6,008,609 (GRCm38) |
I209F |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,068,290 (GRCm38) |
L725P |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,470,121 (GRCm38) |
I408T |
possibly damaging |
Het |
| Wdr72 |
T |
C |
9: 74,145,028 (GRCm38) |
Y114H |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,941,092 (GRCm38) |
E164G |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 121,628,623 (GRCm38) |
|
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,915,678 (GRCm38) |
T453A |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,776,953 (GRCm38) |
G357C |
probably damaging |
Het |
| Zmynd11 |
G |
T |
13: 9,695,895 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Garem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Garem1
|
APN |
18 |
21,148,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01588:Garem1
|
APN |
18 |
21,129,797 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02171:Garem1
|
APN |
18 |
21,129,241 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02270:Garem1
|
APN |
18 |
21,148,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Garem1
|
APN |
18 |
21,131,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0136:Garem1
|
UTSW |
18 |
21,129,991 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0285:Garem1
|
UTSW |
18 |
21,129,612 (GRCm38) |
missense |
probably benign |
|
|
R0361:Garem1
|
UTSW |
18 |
21,299,744 (GRCm38) |
nonsense |
probably null |
|
|
R1068:Garem1
|
UTSW |
18 |
21,168,755 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1537:Garem1
|
UTSW |
18 |
21,168,874 (GRCm38) |
splice site |
probably null |
|
|
R1726:Garem1
|
UTSW |
18 |
21,148,262 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1826:Garem1
|
UTSW |
18 |
21,129,452 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2140:Garem1
|
UTSW |
18 |
21,129,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3714:Garem1
|
UTSW |
18 |
21,148,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3937:Garem1
|
UTSW |
18 |
21,148,806 (GRCm38) |
nonsense |
probably null |
|
|
R4362:Garem1
|
UTSW |
18 |
21,236,115 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4441:Garem1
|
UTSW |
18 |
21,168,750 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4747:Garem1
|
UTSW |
18 |
21,129,943 (GRCm38) |
missense |
probably benign |
|
|
R4814:Garem1
|
UTSW |
18 |
21,148,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4831:Garem1
|
UTSW |
18 |
21,129,768 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4838:Garem1
|
UTSW |
18 |
21,147,893 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5805:Garem1
|
UTSW |
18 |
21,148,435 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5982:Garem1
|
UTSW |
18 |
21,148,351 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6134:Garem1
|
UTSW |
18 |
21,129,824 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6242:Garem1
|
UTSW |
18 |
21,129,172 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6453:Garem1
|
UTSW |
18 |
21,148,739 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6485:Garem1
|
UTSW |
18 |
21,129,837 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6596:Garem1
|
UTSW |
18 |
21,148,739 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6662:Garem1
|
UTSW |
18 |
21,148,247 (GRCm38) |
missense |
probably benign |
0.45 |
|
R6883:Garem1
|
UTSW |
18 |
21,129,712 (GRCm38) |
missense |
probably benign |
|
|
R6937:Garem1
|
UTSW |
18 |
21,147,770 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7027:Garem1
|
UTSW |
18 |
21,129,994 (GRCm38) |
missense |
probably benign |
|
|
R7256:Garem1
|
UTSW |
18 |
21,148,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7534:Garem1
|
UTSW |
18 |
21,299,916 (GRCm38) |
start gained |
probably benign |
|
|
R7620:Garem1
|
UTSW |
18 |
21,129,841 (GRCm38) |
missense |
probably benign |
|
|
R7869:Garem1
|
UTSW |
18 |
21,299,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7963:Garem1
|
UTSW |
18 |
21,148,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8058:Garem1
|
UTSW |
18 |
21,148,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8953:Garem1
|
UTSW |
18 |
21,131,331 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9273:Garem1
|
UTSW |
18 |
21,148,217 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9411:Garem1
|
UTSW |
18 |
21,236,000 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9475:Garem1
|
UTSW |
18 |
21,148,313 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9789:Garem1
|
UTSW |
18 |
21,129,928 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
Z1176:Garem1
|
UTSW |
18 |
21,148,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Garem1
|
UTSW |
18 |
21,129,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAGTGACAAAGAAGGCTATGAC -3'
(R):5'- GAGAACTCCGAGGACAACTC -3'
Sequencing Primer
(F):5'- AAGGCTATGACGTCTTCAGAC -3'
(R):5'- AGGACAACTCCTTTGCAGCTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation