Incidental Mutation 'R6485:Garem1'
| ID |
517321 |
| 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 |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R6485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
21260399-21433196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21262894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 640
(D640G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049260]
|
| AlphaFold |
Q3UFT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049260
AA Change: D640G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: D640G
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
| Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
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 |
|
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'- CAGCTGCAAAGGAGTTGTCC -3'
(R):5'- TCAGAGTGATACAAGTCCTCCCAAC -3'
Sequencing Primer
(F):5'- AGTTCTCCAGACAGTAGCTGG -3'
(R):5'- TGATACAAGTCCTCCCAACAGTGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation