Incidental Mutation 'R1894:Gmip'
ID |
211806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmip
|
Ensembl Gene |
ENSMUSG00000036246 |
Gene Name |
Gem-interacting protein |
Synonyms |
5031419I10Rik |
MMRRC Submission |
039914-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R1894 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 70273622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 971
(L971H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034325]
[ENSMUST00000036074]
[ENSMUST00000123453]
[ENSMUST00000164890]
|
AlphaFold |
Q6PGG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034325
|
SMART Domains |
Protein: ENSMUSP00000034325 Gene: ENSMUSG00000031861
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
40 |
307 |
8.1e-10 |
PFAM |
Pfam:7tm_1
|
46 |
292 |
5.1e-36 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036074
AA Change: L971H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045676 Gene: ENSMUSG00000036246 AA Change: L971H
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
|
SMART Domains |
Protein: ENSMUSP00000116542 Gene: ENSMUSG00000036246
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 |
noncoding transcript
Transcript: ENSMUST00000127114
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138269
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164890
|
SMART Domains |
Protein: ENSMUSP00000128261 Gene: ENSMUSG00000031861
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
40 |
307 |
8.1e-10 |
PFAM |
Pfam:7tm_1
|
46 |
292 |
1.1e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
T |
C |
4: 129,907,419 (GRCm39) |
F977S |
probably damaging |
Het |
Ago4 |
A |
G |
4: 126,406,393 (GRCm39) |
Y306H |
probably benign |
Het |
Cblc |
T |
C |
7: 19,526,502 (GRCm39) |
T196A |
probably damaging |
Het |
Cfap52 |
T |
A |
11: 67,844,445 (GRCm39) |
|
probably null |
Het |
Cops3 |
T |
C |
11: 59,710,844 (GRCm39) |
N375S |
probably benign |
Het |
Crb1 |
T |
C |
1: 139,170,931 (GRCm39) |
T759A |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,685,557 (GRCm39) |
K153E |
probably benign |
Het |
Elovl1 |
C |
T |
4: 118,287,945 (GRCm39) |
S27F |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,863,185 (GRCm39) |
E804G |
probably damaging |
Het |
Fam110b |
G |
T |
4: 5,798,840 (GRCm39) |
C86F |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,236,541 (GRCm39) |
R380W |
probably damaging |
Het |
Gatad2a |
C |
T |
8: 70,369,301 (GRCm39) |
R221Q |
probably damaging |
Het |
Gcn1 |
C |
T |
5: 115,727,174 (GRCm39) |
P677L |
probably damaging |
Het |
Gm6020 |
C |
T |
19: 61,172,391 (GRCm39) |
H22Y |
possibly damaging |
Het |
Gm9817 |
T |
C |
13: 45,232,605 (GRCm39) |
V136A |
unknown |
Het |
Gnptab |
G |
A |
10: 88,254,989 (GRCm39) |
E192K |
possibly damaging |
Het |
Grm7 |
G |
A |
6: 111,335,568 (GRCm39) |
V660I |
probably benign |
Het |
Helz2 |
G |
A |
2: 180,876,082 (GRCm39) |
P1471S |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,386,743 (GRCm39) |
G3786S |
probably damaging |
Het |
Isg20 |
T |
C |
7: 78,569,647 (GRCm39) |
V206A |
probably benign |
Het |
Jund |
T |
A |
8: 71,152,470 (GRCm39) |
I255N |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,353,079 (GRCm39) |
I263F |
probably damaging |
Het |
Kif2c |
A |
T |
4: 117,019,420 (GRCm39) |
L561Q |
probably benign |
Het |
Klhl3 |
T |
C |
13: 58,157,189 (GRCm39) |
D546G |
probably damaging |
Het |
Klk1b4 |
A |
T |
7: 43,859,054 (GRCm39) |
Q24L |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,834,735 (GRCm39) |
C225S |
probably damaging |
Het |
Mcub |
T |
C |
3: 129,728,312 (GRCm39) |
H55R |
probably benign |
Het |
Mecp2 |
C |
T |
X: 73,080,781 (GRCm39) |
A79T |
probably damaging |
Het |
Med18 |
G |
A |
4: 132,187,242 (GRCm39) |
R86* |
probably null |
Het |
Mfsd2b |
T |
C |
12: 4,919,155 (GRCm39) |
E63G |
probably damaging |
Het |
Mtus1 |
C |
T |
8: 41,537,362 (GRCm39) |
S118N |
probably damaging |
Het |
Mybbp1a |
C |
T |
11: 72,336,863 (GRCm39) |
T565I |
probably benign |
Het |
Myo15b |
G |
A |
11: 115,777,899 (GRCm39) |
G1049S |
probably damaging |
Het |
Nfrkb |
T |
A |
9: 31,326,064 (GRCm39) |
V1169E |
probably benign |
Het |
Nr2f2 |
T |
A |
7: 70,004,419 (GRCm39) |
M411L |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Nup214 |
A |
T |
2: 31,886,392 (GRCm39) |
T585S |
possibly damaging |
Het |
Or5m13 |
C |
T |
2: 85,748,599 (GRCm39) |
T110I |
probably benign |
Het |
Or6c214 |
A |
T |
10: 129,590,943 (GRCm39) |
C125* |
probably null |
Het |
Or7e177 |
T |
C |
9: 20,211,633 (GRCm39) |
S47P |
probably benign |
Het |
Or8b12b |
T |
A |
9: 37,684,163 (GRCm39) |
D69E |
possibly damaging |
Het |
Pih1d1 |
T |
A |
7: 44,807,165 (GRCm39) |
I166N |
probably damaging |
Het |
Prl2c5 |
T |
C |
13: 13,366,263 (GRCm39) |
F181L |
probably benign |
Het |
Prx |
C |
T |
7: 27,218,535 (GRCm39) |
T1012I |
possibly damaging |
Het |
Rassf8 |
T |
A |
6: 145,754,199 (GRCm39) |
V5E |
probably damaging |
Het |
Rassf9 |
C |
A |
10: 102,380,755 (GRCm39) |
R44S |
possibly damaging |
Het |
Relch |
A |
T |
1: 105,592,301 (GRCm39) |
I157F |
probably benign |
Het |
Sde2 |
G |
A |
1: 180,687,573 (GRCm39) |
S153N |
probably benign |
Het |
Sec16b |
T |
A |
1: 157,380,545 (GRCm39) |
M372K |
possibly damaging |
Het |
Sgcd |
A |
T |
11: 47,085,937 (GRCm39) |
I71N |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,942,483 (GRCm39) |
C721Y |
probably damaging |
Het |
Slx4ip |
A |
T |
2: 136,910,038 (GRCm39) |
K344N |
probably benign |
Het |
Sorcs3 |
A |
T |
19: 48,782,713 (GRCm39) |
Q1076L |
probably benign |
Het |
Spata21 |
A |
T |
4: 140,838,692 (GRCm39) |
N581I |
possibly damaging |
Het |
Spata31d1d |
G |
T |
13: 59,875,936 (GRCm39) |
P533H |
probably benign |
Het |
Spice1 |
T |
G |
16: 44,185,989 (GRCm39) |
S111A |
probably damaging |
Het |
Tex14 |
T |
G |
11: 87,365,274 (GRCm39) |
F61V |
probably damaging |
Het |
Timp3 |
C |
T |
10: 86,181,716 (GRCm39) |
R196* |
probably null |
Het |
Tll2 |
A |
G |
19: 41,077,110 (GRCm39) |
|
probably null |
Het |
Tppp |
A |
G |
13: 74,169,326 (GRCm39) |
D22G |
possibly damaging |
Het |
Trim24 |
G |
T |
6: 37,934,013 (GRCm39) |
R652L |
probably damaging |
Het |
Uaca |
T |
C |
9: 60,777,718 (GRCm39) |
S702P |
possibly damaging |
Het |
Uggt2 |
T |
C |
14: 119,287,130 (GRCm39) |
E146G |
probably damaging |
Het |
Vmn1r233 |
T |
C |
17: 21,213,994 (GRCm39) |
S319G |
probably benign |
Het |
Wdr47 |
A |
T |
3: 108,530,692 (GRCm39) |
Q395L |
possibly damaging |
Het |
Wrnip1 |
A |
G |
13: 32,989,319 (GRCm39) |
|
probably null |
Het |
Zfp420 |
A |
T |
7: 29,573,933 (GRCm39) |
H51L |
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 |
|
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 |
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'- CAGTGCACCGAGGTAGTTTGAG -3'
(R):5'- TTAAATCTCCTCTGGCAGGGAG -3'
Sequencing Primer
(F):5'- CACCGAGGTAGTTTGAGGGTAC -3'
(R):5'- CTCCTCTGGCAGGGAGATGATG -3'
|
Posted On |
2014-06-30 |