Incidental Mutation 'R6788:Gmip'
ID |
532498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmip
|
Ensembl Gene |
ENSMUSG00000036246 |
Gene Name |
Gem-interacting protein |
Synonyms |
5031419I10Rik |
MMRRC Submission |
044902-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R6788 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 70263824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 89
(L89F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034326]
[ENSMUST00000036074]
[ENSMUST00000123453]
|
AlphaFold |
Q6PGG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034326
|
SMART Domains |
Protein: ENSMUSP00000034326 Gene: ENSMUSG00000031862
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
62 |
N/A |
INTRINSIC |
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
Pfam:E1-E2_ATPase
|
264 |
515 |
3.2e-24 |
PFAM |
Pfam:Hydrolase
|
524 |
781 |
2.2e-11 |
PFAM |
Pfam:HAD
|
527 |
870 |
2.7e-27 |
PFAM |
low complexity region
|
883 |
894 |
N/A |
INTRINSIC |
transmembrane domain
|
1045 |
1067 |
N/A |
INTRINSIC |
transmembrane domain
|
1093 |
1115 |
N/A |
INTRINSIC |
transmembrane domain
|
1130 |
1147 |
N/A |
INTRINSIC |
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036074
AA Change: L89F
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045676 Gene: ENSMUSG00000036246 AA Change: L89F
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 |
possibly damaging
Transcript: ENSMUST00000123453
AA Change: L89F
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116542 Gene: ENSMUSG00000036246 AA Change: L89F
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.4%
|
Validation Efficiency |
97% (68/70) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,580,199 (GRCm39) |
V2001E |
probably benign |
Het |
Ahsg |
A |
G |
16: 22,713,585 (GRCm39) |
D122G |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,840,553 (GRCm39) |
Y1616C |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,619,205 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
C |
8: 22,494,391 (GRCm39) |
I1023V |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,979,216 (GRCm39) |
Y699* |
probably null |
Het |
Car12 |
C |
T |
9: 66,659,244 (GRCm39) |
S183L |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,324,490 (GRCm39) |
S57P |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,145 (GRCm39) |
D74G |
probably damaging |
Het |
Cers6 |
T |
C |
2: 68,938,903 (GRCm39) |
Y374H |
possibly damaging |
Het |
Chmp4c |
T |
A |
3: 10,432,195 (GRCm39) |
M35K |
possibly damaging |
Het |
Crkl |
G |
A |
16: 17,301,645 (GRCm39) |
D300N |
probably damaging |
Het |
Cyp3a41a |
A |
G |
5: 145,642,639 (GRCm39) |
M240T |
probably benign |
Het |
Dipk2a |
C |
T |
9: 94,406,502 (GRCm39) |
V302I |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,523,470 (GRCm39) |
L1986F |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,867,439 (GRCm39) |
I297T |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
Dpys |
T |
A |
15: 39,720,559 (GRCm39) |
H67L |
probably damaging |
Het |
Epc2 |
T |
G |
2: 49,422,099 (GRCm39) |
V331G |
probably benign |
Het |
Fnbp1l |
G |
A |
3: 122,339,956 (GRCm39) |
R344* |
probably null |
Het |
Gpi1 |
A |
G |
7: 33,928,415 (GRCm39) |
S74P |
probably damaging |
Het |
Gys1 |
G |
A |
7: 45,094,102 (GRCm39) |
E406K |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Klhl29 |
C |
T |
12: 5,134,393 (GRCm39) |
V673M |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,360,020 (GRCm39) |
T332A |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,596,792 (GRCm39) |
D60G |
probably damaging |
Het |
Lrr1 |
T |
C |
12: 69,221,449 (GRCm39) |
I197T |
probably damaging |
Het |
Map1lc3b |
A |
G |
8: 122,320,316 (GRCm39) |
N43S |
probably benign |
Het |
Map3k21 |
A |
T |
8: 126,666,605 (GRCm39) |
D599V |
probably benign |
Het |
Mastl |
T |
C |
2: 23,023,710 (GRCm39) |
N338D |
probably benign |
Het |
Mepe |
A |
T |
5: 104,486,074 (GRCm39) |
R405* |
probably null |
Het |
Mrps30 |
T |
C |
13: 118,516,908 (GRCm39) |
E437G |
probably benign |
Het |
Mup15 |
A |
G |
4: 61,356,465 (GRCm39) |
V100A |
possibly damaging |
Het |
Olfml1 |
A |
T |
7: 107,167,075 (GRCm39) |
I35F |
probably damaging |
Het |
Olfml2a |
T |
A |
2: 38,850,238 (GRCm39) |
Y651* |
probably null |
Het |
Or2h1b |
T |
A |
17: 37,462,713 (GRCm39) |
D50V |
probably damaging |
Het |
Otog |
T |
C |
7: 45,947,741 (GRCm39) |
V113A |
probably damaging |
Het |
Parvg |
C |
T |
15: 84,210,464 (GRCm39) |
L44F |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,498,839 (GRCm39) |
D1553E |
probably damaging |
Het |
Pcyt2 |
C |
T |
11: 120,505,200 (GRCm39) |
G122S |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Polq |
C |
T |
16: 36,897,510 (GRCm39) |
T2134I |
probably damaging |
Het |
Prkce |
T |
G |
17: 86,937,489 (GRCm39) |
F641V |
probably damaging |
Het |
Prss1 |
T |
C |
6: 41,440,654 (GRCm39) |
I243T |
possibly damaging |
Het |
Pxmp2 |
A |
G |
5: 110,429,185 (GRCm39) |
F91L |
probably benign |
Het |
Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
Rasgef1a |
T |
G |
6: 118,064,174 (GRCm39) |
M337R |
possibly damaging |
Het |
Rassf2 |
A |
G |
2: 131,844,845 (GRCm39) |
M199T |
probably damaging |
Het |
Rtbdn |
A |
T |
8: 85,679,303 (GRCm39) |
Y67F |
probably null |
Het |
Scamp3 |
T |
C |
3: 89,089,256 (GRCm39) |
V271A |
probably benign |
Het |
Sema3a |
A |
T |
5: 13,647,584 (GRCm39) |
R613W |
possibly damaging |
Het |
Slc4a3 |
A |
T |
1: 75,527,959 (GRCm39) |
I206F |
probably damaging |
Het |
Slc9b1 |
A |
G |
3: 135,063,518 (GRCm39) |
|
probably null |
Het |
Smchd1 |
C |
A |
17: 71,782,096 (GRCm39) |
V22F |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,783,794 (GRCm39) |
|
probably benign |
Het |
Spaca7b |
T |
C |
8: 11,728,584 (GRCm39) |
E29G |
possibly damaging |
Het |
Spata31e4 |
A |
C |
13: 50,857,131 (GRCm39) |
H923P |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,861,117 (GRCm39) |
L89P |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,076,498 (GRCm39) |
E152G |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 49,127,528 (GRCm39) |
F50S |
probably damaging |
Het |
Tpgs2 |
T |
G |
18: 25,262,927 (GRCm39) |
N231H |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,219,747 (GRCm39) |
N2161K |
probably damaging |
Het |
Trim28 |
A |
G |
7: 12,759,273 (GRCm39) |
D129G |
probably benign |
Het |
Trim66 |
A |
T |
7: 109,076,961 (GRCm39) |
I326N |
probably damaging |
Het |
Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
Uggt1 |
T |
A |
1: 36,269,769 (GRCm39) |
T83S |
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,863,754 (GRCm39) |
I587T |
probably damaging |
Het |
Zpld1 |
A |
T |
16: 55,052,603 (GRCm39) |
V337D |
possibly 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 |
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 |
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'- GGATCCACGCCCTATCCTAAAG -3'
(R):5'- AGCAAACTCGAGCTCTAGGAGG -3'
Sequencing Primer
(F):5'- AGGATTCCCCAGTCTTAGTAGAG -3'
(R):5'- CTCGAGCTCTAGGAGGAGGAG -3'
|
Posted On |
2018-08-29 |