Incidental Mutation 'R7351:Gmip'
| ID |
570577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmip
|
| Ensembl Gene |
ENSMUSG00000036246 |
| Gene Name |
Gem-interacting protein |
| Synonyms |
5031419I10Rik |
| MMRRC Submission |
045437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R7351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70270034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 679
(D679G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036074]
[ENSMUST00000123453]
|
| AlphaFold |
Q6PGG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036074
AA Change: D679G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: D679G
| 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 benign
Transcript: ENSMUST00000123453
AA Change: D679G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: D679G
| 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 |
|
| Meta Mutation Damage Score |
0.0926 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| 1700006A11Rik |
C |
A |
3: 124,206,159 (GRCm39) |
G343V |
probably damaging |
Het |
| Adamts6 |
G |
A |
13: 104,526,620 (GRCm39) |
S516N |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,631,286 (GRCm39) |
L566F |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,710,237 (GRCm39) |
N328D |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Brk1 |
T |
C |
6: 113,592,742 (GRCm39) |
S42P |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
| Cenpo |
A |
T |
12: 4,266,581 (GRCm39) |
F176I |
probably damaging |
Het |
| Cfap97d1 |
A |
G |
11: 101,882,331 (GRCm39) |
E163G |
probably benign |
Het |
| Clec12b |
A |
G |
6: 129,356,874 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
A |
G |
11: 106,138,508 (GRCm39) |
N769S |
probably benign |
Het |
| Drc7 |
A |
G |
8: 95,785,135 (GRCm39) |
D165G |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,167,145 (GRCm39) |
I486N |
probably damaging |
Het |
| Gml2 |
T |
C |
15: 74,693,225 (GRCm39) |
V76A |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,576,094 (GRCm39) |
C253R |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,601,854 (GRCm39) |
T239A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,543,640 (GRCm39) |
Y2845F |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Irgm2 |
G |
A |
11: 58,110,431 (GRCm39) |
V41M |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,278,486 (GRCm39) |
G3956R |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,345,482 (GRCm39) |
R163H |
probably damaging |
Het |
| Mxd1 |
A |
G |
6: 86,628,448 (GRCm39) |
S151P |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,751,033 (GRCm39) |
V251A |
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,420,857 (GRCm39) |
G201S |
probably benign |
Het |
| Or5m10b |
G |
T |
2: 85,694,415 (GRCm39) |
|
probably benign |
Het |
| Or8b3 |
C |
T |
9: 38,314,739 (GRCm39) |
L190F |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,317,049 (GRCm39) |
E642G |
possibly damaging |
Het |
| Pramel6 |
T |
A |
2: 87,340,672 (GRCm39) |
F335I |
probably benign |
Het |
| Psd |
G |
T |
19: 46,310,869 (GRCm39) |
S393R |
probably benign |
Het |
| Pwwp2a |
A |
G |
11: 43,573,107 (GRCm39) |
D63G |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,158,879 (GRCm39) |
T139A |
probably benign |
Het |
| Ripk2 |
T |
G |
4: 16,155,048 (GRCm39) |
E157A |
probably damaging |
Het |
| Rnf145 |
G |
A |
11: 44,439,623 (GRCm39) |
V140I |
possibly damaging |
Het |
| Rnf38 |
T |
C |
4: 44,149,102 (GRCm39) |
N114D |
probably benign |
Het |
| Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,024,785 (GRCm39) |
T245A |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,194 (GRCm39) |
F8L |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,137,841 (GRCm39) |
D56V |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,983,802 (GRCm39) |
E726D |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,900,412 (GRCm39) |
F1547L |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,441,855 (GRCm39) |
I1955T |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,196,755 (GRCm39) |
V27E |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,739 (GRCm39) |
S708P |
probably damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,412,240 (GRCm39) |
F258L |
probably benign |
Het |
| Tdpoz2 |
C |
T |
3: 93,559,900 (GRCm39) |
W24* |
probably null |
Het |
| Tmc8 |
T |
C |
11: 117,674,654 (GRCm39) |
L123P |
probably damaging |
Het |
| Trmo |
A |
T |
4: 46,387,716 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,598,030 (GRCm39) |
V19628I |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,770,274 (GRCm39) |
A2685V |
unknown |
Het |
| Usp15 |
A |
T |
10: 122,968,904 (GRCm39) |
M349K |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,739 (GRCm39) |
N363S |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,375,559 (GRCm39) |
I423N |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,691,439 (GRCm39) |
V1206A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,547 (GRCm39) |
Y358N |
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 |
|
|
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 |
|
R9463:Gmip
|
UTSW |
8 |
70,269,693 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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'- CAAGCGATTTCTTCAGGAGGTAGG -3'
(R):5'- TGGGCATCCACAGTTCAGAG -3'
Sequencing Primer
(F):5'- TAGGTGGTTCCAGGCCAGAG -3'
(R):5'- GGCATCCACAGTTCAGAGTTCAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation