Incidental Mutation 'R6852:Gmip'
ID |
535032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmip
|
Ensembl Gene |
ENSMUSG00000036246 |
Gene Name |
Gem-interacting protein |
Synonyms |
5031419I10Rik |
MMRRC Submission |
045023-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R6852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 70270641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 55
(Q55*)
|
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 null
Transcript: ENSMUST00000036074
AA Change: Q784*
|
SMART Domains |
Protein: ENSMUSP00000045676 Gene: ENSMUSG00000036246 AA Change: Q784*
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 null
Transcript: ENSMUST00000123453
AA Change: Q784*
|
SMART Domains |
Protein: ENSMUSP00000116542 Gene: ENSMUSG00000036246 AA Change: Q784*
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 null
Transcript: ENSMUST00000142659
AA Change: Q55*
|
SMART Domains |
Protein: ENSMUSP00000114525 Gene: ENSMUSG00000036246 AA Change: Q55*
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
2 |
25 |
1e-7 |
BLAST |
SCOP:d1f7ca_
|
3 |
32 |
7e-4 |
SMART |
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,770,930 (GRCm39) |
Q40* |
probably null |
Het |
1700034E13Rik |
T |
C |
18: 52,796,705 (GRCm39) |
V81A |
probably damaging |
Het |
A630089N07Rik |
A |
G |
16: 97,866,855 (GRCm39) |
I369T |
probably benign |
Het |
Aatk |
T |
A |
11: 119,901,294 (GRCm39) |
Q977L |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,928,844 (GRCm39) |
Q144H |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,401,753 (GRCm39) |
F416L |
probably benign |
Het |
Anks1b |
A |
G |
10: 90,096,516 (GRCm39) |
E425G |
probably damaging |
Het |
Atm |
A |
G |
9: 53,393,730 (GRCm39) |
S1737P |
possibly damaging |
Het |
Bsph1 |
T |
A |
7: 13,204,255 (GRCm39) |
|
probably null |
Het |
Cabyr |
C |
T |
18: 12,887,154 (GRCm39) |
P262S |
probably benign |
Het |
Cdc14a |
G |
A |
3: 116,122,325 (GRCm39) |
P214L |
possibly damaging |
Het |
Cep128 |
C |
A |
12: 91,333,116 (GRCm39) |
|
probably null |
Het |
Cfh |
T |
A |
1: 140,075,487 (GRCm39) |
R250S |
probably damaging |
Het |
Ddx39a |
T |
C |
8: 84,449,646 (GRCm39) |
I417T |
probably benign |
Het |
Dgka |
T |
A |
10: 128,558,408 (GRCm39) |
K548M |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Elapor1 |
T |
C |
3: 108,389,654 (GRCm39) |
E203G |
probably damaging |
Het |
Epg5 |
C |
T |
18: 78,056,106 (GRCm39) |
T1760I |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,488,635 (GRCm39) |
V3472A |
possibly damaging |
Het |
Fbxo48 |
T |
A |
11: 16,903,402 (GRCm39) |
N9K |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,846,560 (GRCm39) |
I1084N |
probably damaging |
Het |
Fer1l6 |
A |
T |
15: 58,466,727 (GRCm39) |
H833L |
probably damaging |
Het |
Foxn1 |
G |
T |
11: 78,251,786 (GRCm39) |
Q482K |
probably benign |
Het |
Fstl5 |
A |
G |
3: 76,615,162 (GRCm39) |
D741G |
probably damaging |
Het |
H2-T5 |
T |
C |
17: 36,478,965 (GRCm39) |
N95D |
possibly damaging |
Het |
Hapln2 |
G |
A |
3: 87,929,958 (GRCm39) |
T306M |
possibly damaging |
Het |
Kat6a |
T |
A |
8: 23,428,676 (GRCm39) |
S1344T |
probably benign |
Het |
Kctd1 |
C |
T |
18: 15,119,401 (GRCm39) |
D705N |
possibly damaging |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Micall2 |
G |
T |
5: 139,701,548 (GRCm39) |
A482D |
possibly damaging |
Het |
Mindy3 |
T |
A |
2: 12,424,063 (GRCm39) |
M1L |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,136,867 (GRCm39) |
E352G |
probably damaging |
Het |
Muc5ac |
G |
A |
7: 141,370,644 (GRCm39) |
V3219I |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,143,794 (GRCm39) |
|
probably null |
Het |
Ncor1 |
A |
G |
11: 62,234,071 (GRCm39) |
I377T |
probably damaging |
Het |
Oog4 |
C |
A |
4: 143,165,679 (GRCm39) |
C156F |
possibly damaging |
Het |
Or5m9 |
A |
T |
2: 85,876,948 (GRCm39) |
I41F |
probably benign |
Het |
Pcyt1a |
T |
C |
16: 32,288,938 (GRCm39) |
S260P |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,843,711 (GRCm39) |
F1749L |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,353,525 (GRCm39) |
D647G |
probably benign |
Het |
Raver2 |
T |
C |
4: 100,990,787 (GRCm39) |
S387P |
probably benign |
Het |
Relch |
T |
C |
1: 105,681,320 (GRCm39) |
L1184P |
probably damaging |
Het |
Rgs19 |
A |
G |
2: 181,330,941 (GRCm39) |
S231P |
possibly damaging |
Het |
Rpl8 |
G |
T |
15: 76,790,149 (GRCm39) |
R198L |
probably benign |
Het |
Sacs |
T |
A |
14: 61,416,737 (GRCm39) |
S77T |
possibly damaging |
Het |
Samd14 |
G |
A |
11: 94,912,280 (GRCm39) |
G219D |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,331,431 (GRCm39) |
V195M |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,221,113 (GRCm39) |
V453I |
possibly damaging |
Het |
Slc46a3 |
A |
T |
5: 147,822,970 (GRCm39) |
C291S |
probably damaging |
Het |
Smarcal1 |
A |
G |
1: 72,630,332 (GRCm39) |
T129A |
possibly damaging |
Het |
Sorl1 |
T |
A |
9: 41,935,694 (GRCm39) |
R1041W |
possibly damaging |
Het |
Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
Srgap3 |
T |
C |
6: 112,793,622 (GRCm39) |
D118G |
probably damaging |
Het |
Tas2r117 |
T |
A |
6: 132,779,892 (GRCm39) |
V10D |
probably benign |
Het |
Tbcd |
A |
G |
11: 121,500,206 (GRCm39) |
K1111E |
probably benign |
Het |
Tor1aip1 |
A |
T |
1: 155,911,566 (GRCm39) |
L139Q |
probably damaging |
Het |
Trbv23 |
T |
C |
6: 41,193,181 (GRCm39) |
V23A |
probably damaging |
Het |
Ttll3 |
AAGTA |
AAGTATAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
Ttll3 |
GGCAAAG |
GGCAAAGCAAAG |
6: 113,376,116 (GRCm39) |
|
probably null |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Vmn1r42 |
T |
G |
6: 89,821,769 (GRCm39) |
T267P |
possibly damaging |
Het |
Vmn2r53 |
C |
A |
7: 12,340,441 (GRCm39) |
V11F |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,361 (GRCm39) |
M192V |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,603,811 (GRCm39) |
V663A |
probably damaging |
Het |
Zdhhc1 |
C |
T |
8: 106,203,704 (GRCm39) |
G156S |
possibly damaging |
Het |
Zfp318 |
AGAAG |
AGAAGAGGAAG |
17: 46,723,464 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
GAAGAA |
GAAGAAAAAGAA |
17: 46,723,459 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
AAGAAG |
AAGAAGTAGAAG |
17: 46,723,460 (GRCm39) |
|
probably benign |
Het |
Zfp560 |
A |
G |
9: 20,259,339 (GRCm39) |
C508R |
probably damaging |
Het |
Zfp654 |
G |
A |
16: 64,606,961 (GRCm39) |
L414F |
probably damaging |
Het |
Zfp872 |
A |
T |
9: 22,111,355 (GRCm39) |
Y278F |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,483,515 (GRCm39) |
S385G |
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 |
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'- ATTTGGGCCTACACTGCTGC -3'
(R):5'- ATGCGTGTGCCTGCATACTC -3'
Sequencing Primer
(F):5'- TACACTGCTGCGGCCAC -3'
(R):5'- AGCCCTGGAGTCAATATCCAGTTG -3'
|
Posted On |
2018-09-12 |