Incidental Mutation 'R7620:Garem1'
| ID |
589120 |
| 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 |
045687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R7620 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
21260399-21433196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21262898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 639
(S639G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049260]
|
| AlphaFold |
Q3UFT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049260
AA Change: S639G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: S639G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
T |
C |
18: 80,173,702 (GRCm39) |
T236A |
probably damaging |
Het |
| Alkbh7 |
A |
G |
17: 57,304,551 (GRCm39) |
Y63C |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,003,614 (GRCm39) |
C98S |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
| Chil3 |
T |
A |
3: 106,067,751 (GRCm39) |
D138V |
probably damaging |
Het |
| Cntd1 |
A |
T |
11: 101,174,240 (GRCm39) |
E66D |
probably benign |
Het |
| Cpz |
A |
T |
5: 35,669,194 (GRCm39) |
N312K |
possibly damaging |
Het |
| Crat |
A |
G |
2: 30,298,090 (GRCm39) |
I203T |
probably damaging |
Het |
| Cyp2j13 |
T |
A |
4: 95,944,899 (GRCm39) |
H410L |
probably benign |
Het |
| Cyp39a1 |
G |
A |
17: 44,036,544 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
T |
14: 31,025,863 (GRCm39) |
I828N |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,307,794 (GRCm39) |
D3036G |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,290,092 (GRCm39) |
V295A |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,722,969 (GRCm39) |
S1942T |
possibly damaging |
Het |
| Fam111a |
A |
G |
19: 12,565,301 (GRCm39) |
D394G |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,462,887 (GRCm39) |
K1235E |
possibly damaging |
Het |
| Gabre |
C |
A |
X: 71,313,865 (GRCm39) |
Q311H |
unknown |
Het |
| Gsdma |
A |
G |
11: 98,557,429 (GRCm39) |
T123A |
probably benign |
Het |
| Iqcb1 |
A |
G |
16: 36,676,772 (GRCm39) |
N369S |
probably benign |
Het |
| Lepr |
G |
T |
4: 101,609,270 (GRCm39) |
V286F |
probably benign |
Het |
| Lgsn |
T |
C |
1: 31,242,461 (GRCm39) |
M181T |
probably benign |
Het |
| Mapk15 |
T |
G |
15: 75,870,697 (GRCm39) |
S512A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,306,267 (GRCm39) |
T127A |
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,614 (GRCm39) |
F315L |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,071,418 (GRCm39) |
D673E |
probably benign |
Het |
| Nup88 |
G |
C |
11: 70,860,605 (GRCm39) |
P58R |
probably benign |
Het |
| Or4x12-ps1 |
A |
C |
2: 89,915,977 (GRCm39) |
I276R |
probably damaging |
Het |
| Or52e15 |
C |
A |
7: 104,645,962 (GRCm39) |
V50L |
possibly damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
T |
C |
17: 36,178,191 (GRCm39) |
V22A |
probably benign |
Het |
| Psme1 |
T |
A |
14: 55,817,797 (GRCm39) |
C101* |
probably null |
Het |
| Rapgef4 |
G |
T |
2: 72,059,422 (GRCm39) |
C743F |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rnmt |
T |
A |
18: 68,447,105 (GRCm39) |
Y330N |
probably damaging |
Het |
| Skint10 |
T |
A |
4: 112,573,014 (GRCm39) |
M261L |
possibly damaging |
Het |
| Slc35b1 |
T |
C |
11: 95,278,691 (GRCm39) |
Y192H |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,858,396 (GRCm39) |
Y221H |
probably damaging |
Het |
| Spink12 |
A |
G |
18: 44,237,684 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,444,020 (GRCm39) |
|
probably null |
Het |
| Trp73 |
G |
A |
4: 154,143,714 (GRCm39) |
Q551* |
probably null |
Het |
| Vmn2r45 |
C |
T |
7: 8,486,222 (GRCm39) |
W355* |
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,066,042 (GRCm39) |
I678V |
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 |
|
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 |
|
|
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'- CTCGGAGTTCTCCAGACAGTAG -3'
(R):5'- CTTCGTGAGCAGCATCACTCAG -3'
Sequencing Primer
(F):5'- AGTTCTCCAGACAGTAGCTGGC -3'
(R):5'- TCAGAGTGATACAAGTCCTCCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation