Incidental Mutation 'R8917:Gmip'
| ID |
679002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmip
|
| Ensembl Gene |
ENSMUSG00000036246 |
| Gene Name |
Gem-interacting protein |
| Synonyms |
5031419I10Rik |
| MMRRC Submission |
068704-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R8917 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70270428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 713
(F713I)
|
| 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: F713I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: F713I
| 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: F713I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: F713I
| 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 |
|
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610528J11Rik |
A |
G |
4: 118,386,490 (GRCm39) |
M1V |
probably null |
Het |
| Acss3 |
T |
C |
10: 106,773,124 (GRCm39) |
S621G |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,145 (GRCm39) |
R716Q |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,535,902 (GRCm39) |
N177K |
probably damaging |
Het |
| Ankrd31 |
G |
A |
13: 96,969,212 (GRCm39) |
V950I |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,788,160 (GRCm39) |
Y922H |
probably damaging |
Het |
| Axin2 |
A |
T |
11: 108,822,341 (GRCm39) |
N298Y |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,303,882 (GRCm39) |
M2392K |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,974,202 (GRCm39) |
S123G |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,676,993 (GRCm39) |
V63A |
probably damaging |
Het |
| Ctla2a |
A |
T |
13: 61,083,854 (GRCm39) |
M26K |
probably benign |
Het |
| Cts8 |
A |
T |
13: 61,396,882 (GRCm39) |
|
probably benign |
Het |
| Cyp4a30b |
C |
A |
4: 115,311,662 (GRCm39) |
S110* |
probably null |
Het |
| Eif2ak4 |
A |
G |
2: 118,287,617 (GRCm39) |
Y1195C |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,578,360 (GRCm39) |
D401G |
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,663,773 (GRCm39) |
V252A |
probably benign |
Het |
| Furin |
T |
C |
7: 80,048,437 (GRCm39) |
K28E |
probably benign |
Het |
| Hyal6 |
T |
C |
6: 24,734,103 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ido1 |
T |
C |
8: 25,081,523 (GRCm39) |
N144D |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,226,888 (GRCm39) |
T2262S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,276 (GRCm39) |
F923S |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,386,928 (GRCm39) |
M200I |
probably damaging |
Het |
| Kctd15 |
A |
G |
7: 34,341,508 (GRCm39) |
Y140H |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,416,690 (GRCm39) |
I237N |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,455 (GRCm39) |
S152G |
possibly damaging |
Het |
| Lce1k |
C |
A |
3: 92,714,097 (GRCm39) |
C29F |
unknown |
Het |
| Map1a |
A |
G |
2: 121,131,791 (GRCm39) |
E869G |
possibly damaging |
Het |
| Mcmbp |
T |
C |
7: 128,300,281 (GRCm39) |
E576G |
probably benign |
Het |
| Mrps22 |
A |
G |
9: 98,476,163 (GRCm39) |
V231A |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,551,534 (GRCm39) |
L697F |
possibly damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,999,297 (GRCm39) |
V1291A |
probably benign |
Het |
| Nherf4 |
T |
A |
9: 44,160,141 (GRCm39) |
|
probably benign |
Het |
| Or9m1 |
A |
T |
2: 87,733,307 (GRCm39) |
S238T |
possibly damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,431 (GRCm39) |
T451A |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,130,310 (GRCm39) |
W1032L |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,396,403 (GRCm39) |
I1975N |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,567,637 (GRCm39) |
M115T |
possibly damaging |
Het |
| Poldip2 |
G |
A |
11: 78,412,667 (GRCm39) |
R347Q |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,768,935 (GRCm39) |
V429M |
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,582,392 (GRCm39) |
Q1440* |
probably null |
Het |
| Rtn3 |
A |
T |
19: 7,434,105 (GRCm39) |
I629K |
possibly damaging |
Het |
| Selenov |
A |
G |
7: 27,987,728 (GRCm39) |
F278L |
probably damaging |
Het |
| Skor2 |
G |
A |
18: 76,948,504 (GRCm39) |
G742D |
probably damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,429 (GRCm39) |
P324S |
probably benign |
Het |
| Tbc1d14 |
A |
T |
5: 36,676,682 (GRCm39) |
I403N |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,978,052 (GRCm39) |
Q374L |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,645,332 (GRCm39) |
|
probably null |
Het |
| Thnsl2 |
T |
C |
6: 71,116,927 (GRCm39) |
D75G |
probably benign |
Het |
| Tnr |
A |
T |
1: 159,701,692 (GRCm39) |
K598* |
probably null |
Het |
| Tshr |
T |
A |
12: 91,468,829 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,185,735 (GRCm39) |
S1483P |
|
Het |
| Usp42 |
T |
C |
5: 143,701,695 (GRCm39) |
E776G |
|
Het |
| Vmn2r118 |
T |
C |
17: 55,917,216 (GRCm39) |
E432G |
possibly damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,433 (GRCm39) |
I830T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,159 (GRCm39) |
E1464G |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,305 (GRCm39) |
T646A |
probably benign |
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 |
|
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'- TAACTAGCTGGTTTCAAGCCGTG -3'
(R):5'- ATTCAAGGCATGCAGGAGCC -3'
Sequencing Primer
(F):5'- TTTCAAGCCGTGACCAGAG -3'
(R):5'- AAGCCAGGGTCTTGGGTCAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation