Incidental Mutation 'R6134:Garem1'
| ID |
487307 |
| 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 |
044281-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R6134 (G1)
|
| Quality Score |
204.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
21260399-21433196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21262881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 644
(D644E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049260]
|
| AlphaFold |
Q3UFT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049260
AA Change: D644E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: D644E
| 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: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
94% (51/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,767,619 (GRCm39) |
E39K |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aktip |
T |
A |
8: 91,856,388 (GRCm39) |
S30C |
probably damaging |
Het |
| Anxa10 |
G |
T |
8: 62,530,977 (GRCm39) |
H78N |
probably damaging |
Het |
| Aoah |
C |
T |
13: 21,095,293 (GRCm39) |
R196W |
probably damaging |
Het |
| Arl4c |
A |
T |
1: 88,629,152 (GRCm39) |
W79R |
probably damaging |
Het |
| Brd2 |
A |
T |
17: 34,332,669 (GRCm39) |
D178E |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,577,037 (GRCm39) |
P120L |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,342,697 (GRCm39) |
M17K |
probably benign |
Het |
| Cdhr17 |
A |
T |
5: 17,029,683 (GRCm39) |
D473V |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,071,798 (GRCm39) |
T103A |
possibly damaging |
Het |
| Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,649,536 (GRCm39) |
D282E |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,538,035 (GRCm39) |
S1181R |
unknown |
Het |
| Col6a2 |
T |
C |
10: 76,442,978 (GRCm39) |
D506G |
probably damaging |
Het |
| Crx |
A |
T |
7: 15,602,032 (GRCm39) |
Y215* |
probably null |
Het |
| Fasn |
A |
T |
11: 120,713,012 (GRCm39) |
S58T |
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,580,651 (GRCm39) |
E518G |
possibly damaging |
Het |
| H2-Q2 |
A |
C |
17: 35,562,217 (GRCm39) |
T155P |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,572 (GRCm39) |
I49N |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lnpep |
A |
G |
17: 17,773,454 (GRCm39) |
M639T |
probably benign |
Het |
| Lypd11 |
G |
A |
7: 24,425,481 (GRCm39) |
A3V |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,240,503 (GRCm39) |
S333F |
probably damaging |
Het |
| Miga2 |
A |
G |
2: 30,261,229 (GRCm39) |
S175G |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,244,579 (GRCm39) |
I191N |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,244,595 (GRCm39) |
V701A |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,828,851 (GRCm39) |
V565A |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Numbl |
G |
C |
7: 26,980,739 (GRCm39) |
A574P |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,907,113 (GRCm39) |
V508A |
unknown |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,461 (GRCm39) |
S197T |
probably benign |
Het |
| Pck2 |
T |
A |
14: 55,781,419 (GRCm39) |
M180K |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,900,740 (GRCm39) |
V91A |
possibly damaging |
Het |
| Phtf1 |
A |
T |
3: 103,911,721 (GRCm39) |
M643L |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,837 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,141,190 (GRCm39) |
Y546H |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,374,745 (GRCm39) |
L742P |
probably benign |
Het |
| Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,107,194 (GRCm39) |
L64P |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,302,296 (GRCm39) |
I407F |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
| Scin |
G |
A |
12: 40,110,578 (GRCm39) |
P690L |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,242,987 (GRCm39) |
L58P |
probably damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,869,633 (GRCm39) |
E566G |
probably damaging |
Het |
| Speer4f1 |
G |
A |
5: 17,681,140 (GRCm39) |
R6Q |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,890,986 (GRCm39) |
Y443F |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,135,143 (GRCm39) |
I79V |
probably benign |
Het |
| Ttll6 |
C |
T |
11: 96,030,568 (GRCm39) |
T245I |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,444 (GRCm39) |
I673T |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,449,323 (GRCm39) |
F664L |
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 |
|
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'- AGCTGCAAAGGAGTTGTCC -3'
(R):5'- TCAGAGTGATACAAGTCCTCCC -3'
Sequencing Primer
(F):5'- AGTTCTCCAGACAGTAGCTGG -3'
(R):5'- GTGATACAAGTCCTCCCAACAGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation