Incidental Mutation 'R4348:Garem2'
| ID |
328395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garem2
|
| Ensembl Gene |
ENSMUSG00000044576 |
| Gene Name |
GRB2 associated regulator of MAPK1 subtype 2 |
| Synonyms |
Gareml, LOC242915, Fam59b |
| MMRRC Submission |
041103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R4348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
30310194-30323378 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30310366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 26
(R26H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058045]
[ENSMUST00000127749]
[ENSMUST00000199573]
|
| AlphaFold |
Q6PAJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058045
AA Change: R26H
PolyPhen 2
Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000054208
Gene: ENSMUSG00000044576
AA Change: R26H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CABIT
|
29 |
337 |
1.2e-77 |
PFAM |
|
low complexity region
|
379 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
696 |
N/A |
INTRINSIC |
|
PDB:2DKZ|A
|
794 |
878 |
3e-30 |
PDB |
|
Blast:SAM
|
812 |
879 |
6e-35 |
BLAST |
|
SCOP:d1kw4a_
|
816 |
877 |
1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127749
|
| SMART Domains |
Protein: ENSMUSP00000131958
Gene: ENSMUSG00000086815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199573
|
| SMART Domains |
Protein: ENSMUSP00000142756
Gene: ENSMUSG00000086815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
96 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,113,738 (GRCm39) |
F235L |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Cngb3 |
G |
A |
4: 19,396,688 (GRCm39) |
R347Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,554 (GRCm39) |
C334S |
probably damaging |
Het |
| D7Ertd443e |
ACCTAGGAGGTCCT |
ACCT |
7: 133,950,682 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,536,498 (GRCm39) |
M2138K |
possibly damaging |
Het |
| Ebf2 |
T |
C |
14: 67,476,871 (GRCm39) |
I138T |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,012,736 (GRCm39) |
S784P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,556 (GRCm39) |
V422A |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Kcns3 |
T |
C |
12: 11,141,382 (GRCm39) |
N439S |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mbd1 |
G |
T |
18: 74,407,487 (GRCm39) |
R199L |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,146,339 (GRCm39) |
M183K |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,026,073 (GRCm39) |
K464E |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,450,649 (GRCm39) |
T127I |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,060 (GRCm39) |
I509T |
probably damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,830,646 (GRCm39) |
A475T |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,561,124 (GRCm39) |
V136A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,717,592 (GRCm39) |
S1879R |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,818,975 (GRCm39) |
Q388L |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,692 (GRCm39) |
T61S |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,138,245 (GRCm39) |
V364A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,595,109 (GRCm39) |
I20347T |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,829,466 (GRCm39) |
F477Y |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,730,165 (GRCm39) |
H423R |
probably damaging |
Het |
|
| Other mutations in Garem2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0194:Garem2
|
UTSW |
5 |
30,318,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Garem2
|
UTSW |
5 |
30,319,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1933:Garem2
|
UTSW |
5 |
30,319,860 (GRCm39) |
nonsense |
probably null |
|
|
R1955:Garem2
|
UTSW |
5 |
30,313,268 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1970:Garem2
|
UTSW |
5 |
30,322,172 (GRCm39) |
nonsense |
probably null |
|
|
R2152:Garem2
|
UTSW |
5 |
30,313,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2153:Garem2
|
UTSW |
5 |
30,313,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2154:Garem2
|
UTSW |
5 |
30,313,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2202:Garem2
|
UTSW |
5 |
30,319,762 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2270:Garem2
|
UTSW |
5 |
30,321,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Garem2
|
UTSW |
5 |
30,321,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4439:Garem2
|
UTSW |
5 |
30,318,344 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4665:Garem2
|
UTSW |
5 |
30,319,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4666:Garem2
|
UTSW |
5 |
30,319,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5733:Garem2
|
UTSW |
5 |
30,321,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Garem2
|
UTSW |
5 |
30,319,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Garem2
|
UTSW |
5 |
30,321,735 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Garem2
|
UTSW |
5 |
30,319,168 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8080:Garem2
|
UTSW |
5 |
30,313,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Garem2
|
UTSW |
5 |
30,313,262 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9199:Garem2
|
UTSW |
5 |
30,319,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9327:Garem2
|
UTSW |
5 |
30,321,989 (GRCm39) |
missense |
probably benign |
|
|
R9502:Garem2
|
UTSW |
5 |
30,321,750 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9787:Garem2
|
UTSW |
5 |
30,319,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Garem2
|
UTSW |
5 |
30,319,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Garem2
|
UTSW |
5 |
30,319,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACGCAGCAATCCTGAG -3'
(R):5'- GCCAGTTACTAACCCTGTGG -3'
Sequencing Primer
(F):5'- AGCAATCCTGAGTCCGGAC -3'
(R):5'- AGAAGCGGCTCCCAGACTTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation