Incidental Mutation 'R9463:Gmip'
| ID |
715004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmip
|
| Ensembl Gene |
ENSMUSG00000036246 |
| Gene Name |
Gem-interacting protein |
| Synonyms |
5031419I10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R9463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70269693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 596
(R596Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036074]
[ENSMUST00000123453]
|
| AlphaFold |
Q6PGG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036074
AA Change: R596Q
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: R596Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QWE|A
|
85 |
356 |
1e-149 |
PDB |
|
low complexity region
|
358 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
C1
|
491 |
536 |
1.75e-6 |
SMART |
|
RhoGAP
|
561 |
753 |
1.06e-61 |
SMART |
|
Blast:RhoGAP
|
824 |
971 |
1e-53 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123453
AA Change: R596Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: R596Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QWE|A
|
85 |
356 |
1e-150 |
PDB |
|
low complexity region
|
358 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
C1
|
491 |
536 |
1.75e-6 |
SMART |
|
RhoGAP
|
561 |
753 |
1.06e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142659
|
| SMART Domains |
Protein: ENSMUSP00000114525
Gene: ENSMUSG00000036246
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
2 |
25 |
1e-7 |
BLAST |
|
SCOP:d1f7ca_
|
3 |
32 |
7e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
C |
T |
14: 8,256,789 (GRCm38) |
E25K |
probably damaging |
Het |
| Acss2 |
A |
G |
2: 155,392,032 (GRCm39) |
Y218C |
probably benign |
Het |
| Armc8 |
C |
T |
9: 99,378,203 (GRCm39) |
|
probably null |
Het |
| Aspg |
G |
A |
12: 112,089,824 (GRCm39) |
G454D |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,809,051 (GRCm39) |
T623A |
|
Het |
| Cacna1e |
A |
G |
1: 154,357,411 (GRCm39) |
L655P |
probably damaging |
Het |
| Cant1 |
T |
A |
11: 118,302,281 (GRCm39) |
N12I |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,475,382 (GRCm39) |
T445A |
probably benign |
Het |
| Clstn1 |
A |
T |
4: 149,698,564 (GRCm39) |
D50V |
possibly damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,076 (GRCm39) |
M1609V |
unknown |
Het |
| Dand5 |
A |
T |
8: 85,542,938 (GRCm39) |
C179* |
probably null |
Het |
| Dbndd1 |
A |
G |
8: 124,233,547 (GRCm39) |
L153P |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,306,454 (GRCm39) |
I437V |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,344,223 (GRCm39) |
S1856T |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,973,700 (GRCm39) |
Y641* |
probably null |
Het |
| Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
| Efl1 |
C |
T |
7: 82,426,733 (GRCm39) |
T1077M |
probably damaging |
Het |
| Eif3e |
G |
T |
15: 43,138,709 (GRCm39) |
Q83K |
probably benign |
Het |
| Firrm |
A |
T |
1: 163,795,907 (GRCm39) |
M428K |
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,286,910 (GRCm39) |
A170T |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Hook1 |
A |
T |
4: 95,910,510 (GRCm39) |
Q708L |
probably damaging |
Het |
| Krtap9-3 |
G |
A |
11: 99,488,526 (GRCm39) |
R119C |
unknown |
Het |
| Lnpk |
A |
C |
2: 74,381,403 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
G |
T |
10: 127,429,334 (GRCm39) |
Y484* |
probably null |
Het |
| Lrrc8e |
C |
T |
8: 4,285,185 (GRCm39) |
P470L |
probably damaging |
Het |
| Mapre1 |
A |
G |
2: 153,606,960 (GRCm39) |
N231D |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,405,503 (GRCm39) |
N937K |
unknown |
Het |
| Ndufaf7 |
T |
C |
17: 79,253,900 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,118,225 (GRCm39) |
I650F |
probably benign |
Het |
| Notch1 |
T |
C |
2: 26,359,845 (GRCm39) |
D1290G |
probably benign |
Het |
| Or7g27 |
C |
T |
9: 19,250,320 (GRCm39) |
A188V |
possibly damaging |
Het |
| Or8b46 |
T |
C |
9: 38,450,665 (GRCm39) |
I158T |
probably damaging |
Het |
| Orc4 |
C |
T |
2: 48,826,783 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
A |
G |
4: 141,357,949 (GRCm39) |
V664A |
probably benign |
Het |
| Pom121l2 |
T |
G |
13: 22,168,402 (GRCm39) |
I891S |
probably benign |
Het |
| Prkcsh |
T |
C |
9: 21,923,982 (GRCm39) |
Y425H |
probably damaging |
Het |
| Prps1l1 |
A |
C |
12: 35,035,559 (GRCm39) |
T225P |
probably damaging |
Het |
| Prr18 |
T |
G |
17: 8,560,324 (GRCm39) |
V160G |
probably damaging |
Het |
| Psd2 |
T |
A |
18: 36,143,798 (GRCm39) |
F701L |
probably damaging |
Het |
| Sclt1 |
T |
C |
3: 41,601,931 (GRCm39) |
E593G |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,948,548 (GRCm39) |
I631T |
probably benign |
Het |
| Sirt1 |
A |
T |
10: 63,171,487 (GRCm39) |
D231E |
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,624,974 (GRCm39) |
N274I |
probably damaging |
Het |
| Spocd1 |
A |
G |
4: 129,847,398 (GRCm39) |
Q529R |
|
Het |
| Trarg1 |
T |
A |
11: 76,571,098 (GRCm39) |
L38Q |
probably damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,530 (GRCm39) |
L40H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,761,264 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,578,519 (GRCm39) |
Y24125H |
probably damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,056 (GRCm39) |
L379F |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
| Wee1 |
T |
C |
7: 109,721,917 (GRCm39) |
S121P |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,274 (GRCm39) |
K1222R |
probably damaging |
Het |
|
| Other mutations in Gmip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Gmip
|
APN |
8 |
70,269,661 (GRCm39) |
nonsense |
probably null |
|
|
IGL02529:Gmip
|
APN |
8 |
70,269,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03185:Gmip
|
APN |
8 |
70,262,433 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03328:Gmip
|
APN |
8 |
70,264,261 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
microdot
|
UTSW |
8 |
70,266,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
minnox
|
UTSW |
8 |
70,270,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
puncta
|
UTSW |
8 |
70,268,736 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0110:Gmip
|
UTSW |
8 |
70,268,259 (GRCm39) |
unclassified |
probably benign |
|
|
R0329:Gmip
|
UTSW |
8 |
70,263,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0330:Gmip
|
UTSW |
8 |
70,263,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0510:Gmip
|
UTSW |
8 |
70,268,259 (GRCm39) |
unclassified |
probably benign |
|
|
R0638:Gmip
|
UTSW |
8 |
70,264,095 (GRCm39) |
splice site |
probably benign |
|
|
R1692:Gmip
|
UTSW |
8 |
70,266,553 (GRCm39) |
missense |
probably benign |
|
|
R1721:Gmip
|
UTSW |
8 |
70,263,882 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1755:Gmip
|
UTSW |
8 |
70,266,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Gmip
|
UTSW |
8 |
70,267,127 (GRCm39) |
missense |
probably benign |
|
|
R1894:Gmip
|
UTSW |
8 |
70,273,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Gmip
|
UTSW |
8 |
70,268,170 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2005:Gmip
|
UTSW |
8 |
70,266,693 (GRCm39) |
missense |
probably benign |
|
|
R4280:Gmip
|
UTSW |
8 |
70,266,251 (GRCm39) |
unclassified |
probably benign |
|
|
R4281:Gmip
|
UTSW |
8 |
70,266,251 (GRCm39) |
unclassified |
probably benign |
|
|
R4282:Gmip
|
UTSW |
8 |
70,266,251 (GRCm39) |
unclassified |
probably benign |
|
|
R4283:Gmip
|
UTSW |
8 |
70,266,251 (GRCm39) |
unclassified |
probably benign |
|
|
R5221:Gmip
|
UTSW |
8 |
70,266,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Gmip
|
UTSW |
8 |
70,270,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5521:Gmip
|
UTSW |
8 |
70,270,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Gmip
|
UTSW |
8 |
70,270,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Gmip
|
UTSW |
8 |
70,269,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Gmip
|
UTSW |
8 |
70,270,022 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6228:Gmip
|
UTSW |
8 |
70,268,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Gmip
|
UTSW |
8 |
70,268,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6787:Gmip
|
UTSW |
8 |
70,266,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Gmip
|
UTSW |
8 |
70,263,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Gmip
|
UTSW |
8 |
70,263,824 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6852:Gmip
|
UTSW |
8 |
70,270,641 (GRCm39) |
nonsense |
probably null |
|
|
R6934:Gmip
|
UTSW |
8 |
70,273,576 (GRCm39) |
missense |
probably benign |
|
|
R7010:Gmip
|
UTSW |
8 |
70,264,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Gmip
|
UTSW |
8 |
70,270,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7254:Gmip
|
UTSW |
8 |
70,269,118 (GRCm39) |
splice site |
probably null |
|
|
R7351:Gmip
|
UTSW |
8 |
70,270,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7360:Gmip
|
UTSW |
8 |
70,263,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Gmip
|
UTSW |
8 |
70,273,149 (GRCm39) |
missense |
probably benign |
|
|
R7577:Gmip
|
UTSW |
8 |
70,267,085 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7718:Gmip
|
UTSW |
8 |
70,270,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8018:Gmip
|
UTSW |
8 |
70,268,143 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8080:Gmip
|
UTSW |
8 |
70,268,736 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8694:Gmip
|
UTSW |
8 |
70,270,485 (GRCm39) |
missense |
probably benign |
|
|
R8750:Gmip
|
UTSW |
8 |
70,273,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8826:Gmip
|
UTSW |
8 |
70,268,748 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8917:Gmip
|
UTSW |
8 |
70,270,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8953:Gmip
|
UTSW |
8 |
70,269,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Gmip
|
UTSW |
8 |
70,273,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9350:Gmip
|
UTSW |
8 |
70,263,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9547:Gmip
|
UTSW |
8 |
70,273,381 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9771:Gmip
|
UTSW |
8 |
70,266,718 (GRCm39) |
missense |
probably benign |
0.44 |
|
X0063:Gmip
|
UTSW |
8 |
70,262,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gmip
|
UTSW |
8 |
70,268,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTACCAGATGCACAGCTG -3'
(R):5'- TGAAGGCGTCGTACAAGTGG -3'
Sequencing Primer
(F):5'- TGAGATAGAGCACCGTGCC -3'
(R):5'- ACCACGGGATCAGTGAGCTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation