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 |
LOC381126, Garem, Fam59a |
MMRRC Submission |
044148-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R5963 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
21260399-21433196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21262487 bp (GRCm39)
|
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: 97,029,037 (GRCm39) |
K131E |
probably benign |
Het |
Ank3 |
T |
A |
10: 69,823,056 (GRCm39) |
L575* |
probably null |
Het |
Aqr |
T |
C |
2: 113,957,442 (GRCm39) |
T819A |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,807,659 (GRCm39) |
S407T |
probably benign |
Het |
Bmper |
T |
A |
9: 23,286,889 (GRCm39) |
C272S |
probably benign |
Het |
Btbd9 |
C |
T |
17: 30,553,192 (GRCm39) |
|
probably null |
Het |
C5ar1 |
A |
G |
7: 15,982,747 (GRCm39) |
V91A |
possibly damaging |
Het |
Ccdc138 |
A |
G |
10: 58,411,579 (GRCm39) |
H649R |
possibly damaging |
Het |
Cfap43 |
A |
T |
19: 47,734,013 (GRCm39) |
V1451E |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,231,511 (GRCm39) |
M901L |
probably damaging |
Het |
Cherp |
G |
T |
8: 73,215,379 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
C |
T |
2: 104,078,630 (GRCm39) |
V1229I |
possibly damaging |
Het |
Fat4 |
A |
C |
3: 39,064,696 (GRCm39) |
D4884A |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,351,480 (GRCm39) |
F243L |
probably damaging |
Het |
Gpr87 |
T |
A |
3: 59,086,690 (GRCm39) |
R272* |
probably null |
Het |
Gsdmc |
A |
T |
15: 63,651,965 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
A |
8: 111,220,926 (GRCm39) |
F1441I |
possibly damaging |
Het |
Ints11 |
T |
A |
4: 155,957,369 (GRCm39) |
C63* |
probably null |
Het |
Kdm4b |
A |
T |
17: 56,706,732 (GRCm39) |
T908S |
probably damaging |
Het |
Lipn |
A |
G |
19: 34,058,700 (GRCm39) |
D304G |
probably damaging |
Het |
Man2a1 |
T |
G |
17: 64,982,117 (GRCm39) |
N544K |
probably benign |
Het |
Mapkapk5 |
G |
T |
5: 121,676,544 (GRCm39) |
H66N |
probably damaging |
Het |
Mog |
G |
A |
17: 37,323,240 (GRCm39) |
R233* |
probably null |
Het |
Mrps24 |
A |
T |
11: 5,657,481 (GRCm39) |
|
probably benign |
Het |
Nom1 |
T |
C |
5: 29,642,768 (GRCm39) |
L423P |
probably damaging |
Het |
Or51b6 |
T |
A |
7: 103,556,168 (GRCm39) |
V174E |
probably benign |
Het |
Pcdha1 |
T |
A |
18: 37,064,224 (GRCm39) |
V296E |
probably damaging |
Het |
Pdcd2 |
T |
C |
17: 15,746,656 (GRCm39) |
K168E |
possibly damaging |
Het |
Pdcd2 |
G |
T |
17: 15,746,657 (GRCm39) |
H167Q |
probably damaging |
Het |
Pla2g12b |
T |
A |
10: 59,239,780 (GRCm39) |
V63D |
probably damaging |
Het |
Pnn |
C |
T |
12: 59,114,617 (GRCm39) |
R56* |
probably null |
Het |
Primpol |
T |
A |
8: 47,046,615 (GRCm39) |
E227V |
possibly damaging |
Het |
Rad54l |
A |
T |
4: 115,967,584 (GRCm39) |
W233R |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,300,578 (GRCm39) |
D103V |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,091,819 (GRCm39) |
S1511P |
probably benign |
Het |
Septin5 |
T |
C |
16: 18,442,962 (GRCm39) |
|
probably null |
Het |
Simc1 |
T |
A |
13: 54,673,632 (GRCm39) |
I660K |
possibly damaging |
Het |
Slc15a5 |
A |
G |
6: 138,056,691 (GRCm39) |
L75P |
probably damaging |
Het |
Slc9a2 |
A |
G |
1: 40,721,196 (GRCm39) |
S55G |
possibly damaging |
Het |
Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
Slitrk3 |
A |
G |
3: 72,958,046 (GRCm39) |
V242A |
probably benign |
Het |
St14 |
A |
T |
9: 31,017,853 (GRCm39) |
|
probably benign |
Het |
Tnnt2 |
T |
C |
1: 135,771,600 (GRCm39) |
|
probably benign |
Het |
Traf5 |
G |
A |
1: 191,731,977 (GRCm39) |
T288I |
probably benign |
Het |
Trerf1 |
C |
T |
17: 47,625,263 (GRCm39) |
|
noncoding transcript |
Het |
Vegfc |
A |
G |
8: 54,634,319 (GRCm39) |
N333D |
probably benign |
Het |
Vmn1r65 |
T |
A |
7: 6,011,608 (GRCm39) |
I209F |
probably damaging |
Het |
Vps51 |
A |
G |
19: 6,118,320 (GRCm39) |
L725P |
probably damaging |
Het |
Vps8 |
T |
C |
16: 21,288,871 (GRCm39) |
I408T |
possibly damaging |
Het |
Wdr72 |
T |
C |
9: 74,052,310 (GRCm39) |
Y114H |
probably damaging |
Het |
Ybx2 |
A |
G |
11: 69,831,918 (GRCm39) |
E164G |
probably damaging |
Het |
Zcchc14 |
A |
T |
8: 122,355,362 (GRCm39) |
|
probably benign |
Het |
Zfp383 |
A |
G |
7: 29,615,103 (GRCm39) |
T453A |
possibly damaging |
Het |
Zfp84 |
G |
T |
7: 29,476,378 (GRCm39) |
G357C |
probably damaging |
Het |
Zmynd11 |
G |
T |
13: 9,745,931 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
|
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 |