Incidental Mutation 'R1926:Gmip'
ID |
213442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmip
|
Ensembl Gene |
ENSMUSG00000036246 |
Gene Name |
Gem-interacting protein |
Synonyms |
5031419I10Rik |
MMRRC Submission |
039944-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R1926 (G1)
|
Quality Score |
196 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70268170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 408
(E408G)
|
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: E408G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045676 Gene: ENSMUSG00000036246 AA Change: E408G
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: E408G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000116542 Gene: ENSMUSG00000036246 AA Change: E408G
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: ENSMUST00000143744
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156620
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.0%
- 20x: 91.6%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
C |
T |
7: 119,376,359 (GRCm39) |
T362M |
probably damaging |
Het |
Ang6 |
A |
G |
14: 44,239,695 (GRCm39) |
V11A |
possibly damaging |
Het |
Ankrd17 |
A |
G |
5: 90,392,028 (GRCm39) |
Y1880H |
probably damaging |
Het |
Bmi1 |
A |
G |
2: 18,687,084 (GRCm39) |
I55V |
probably benign |
Het |
Bnipl |
G |
A |
3: 95,150,354 (GRCm39) |
T297M |
probably damaging |
Het |
Bpifa2 |
T |
C |
2: 153,855,669 (GRCm39) |
V198A |
probably benign |
Het |
Brms1l |
G |
T |
12: 55,909,946 (GRCm39) |
V239F |
possibly damaging |
Het |
Ccdc158 |
A |
G |
5: 92,798,647 (GRCm39) |
V351A |
probably benign |
Het |
Ces1c |
A |
G |
8: 93,854,232 (GRCm39) |
F101S |
possibly damaging |
Het |
Cpb2 |
T |
C |
14: 75,479,837 (GRCm39) |
Y15H |
probably benign |
Het |
Dglucy |
A |
T |
12: 100,833,414 (GRCm39) |
N535I |
possibly damaging |
Het |
Dop1a |
C |
A |
9: 86,405,072 (GRCm39) |
H1763Q |
probably damaging |
Het |
Dpy19l1 |
C |
T |
9: 24,385,120 (GRCm39) |
M236I |
probably benign |
Het |
Efna2 |
T |
C |
10: 80,022,710 (GRCm39) |
Y85H |
probably damaging |
Het |
Eipr1 |
A |
T |
12: 28,914,836 (GRCm39) |
|
probably null |
Het |
Eln |
A |
T |
5: 134,735,421 (GRCm39) |
Y787* |
probably null |
Het |
Erbb2 |
G |
C |
11: 98,315,990 (GRCm39) |
E364D |
probably benign |
Het |
F5 |
A |
G |
1: 164,007,077 (GRCm39) |
T294A |
probably damaging |
Het |
Fam47e |
A |
G |
5: 92,733,244 (GRCm39) |
T194A |
possibly damaging |
Het |
Galk1 |
T |
C |
11: 115,901,073 (GRCm39) |
D202G |
probably damaging |
Het |
Glb1l2 |
T |
C |
9: 26,682,362 (GRCm39) |
D163G |
probably damaging |
Het |
Gp1ba |
A |
T |
11: 70,531,715 (GRCm39) |
|
probably benign |
Het |
Grm3 |
A |
T |
5: 9,554,881 (GRCm39) |
C804S |
probably damaging |
Het |
Gzmd |
A |
G |
14: 56,367,737 (GRCm39) |
C179R |
probably damaging |
Het |
Hadhb |
T |
A |
5: 30,385,935 (GRCm39) |
L415Q |
possibly damaging |
Het |
Ift80 |
T |
C |
3: 68,823,498 (GRCm39) |
Y588C |
probably damaging |
Het |
Jazf1 |
T |
C |
6: 53,045,516 (GRCm39) |
T13A |
probably benign |
Het |
Kat8 |
T |
A |
7: 127,514,467 (GRCm39) |
Y67* |
probably null |
Het |
Kcnab1 |
G |
A |
3: 65,283,933 (GRCm39) |
E384K |
possibly damaging |
Het |
Lhx3 |
A |
T |
2: 26,092,200 (GRCm39) |
Y230* |
probably null |
Het |
Lmx1b |
T |
A |
2: 33,454,674 (GRCm39) |
M365L |
probably damaging |
Het |
Ly6k |
G |
T |
15: 74,669,051 (GRCm39) |
P76Q |
probably benign |
Het |
Lypd10 |
G |
A |
7: 24,413,541 (GRCm39) |
G186R |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,567,200 (GRCm39) |
H1840Q |
unknown |
Het |
Map3k2 |
A |
G |
18: 32,336,163 (GRCm39) |
I117V |
probably damaging |
Het |
Med13 |
C |
A |
11: 86,179,899 (GRCm39) |
A1350S |
possibly damaging |
Het |
Midn |
T |
C |
10: 79,987,495 (GRCm39) |
S109P |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,293,653 (GRCm39) |
T803A |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,337,182 (GRCm39) |
Y1018C |
probably damaging |
Het |
Ndufc1 |
A |
T |
3: 51,314,816 (GRCm39) |
N63K |
probably benign |
Het |
Neb |
A |
T |
2: 52,169,647 (GRCm39) |
S1811R |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,371,669 (GRCm39) |
D260G |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Oas1g |
T |
C |
5: 121,017,205 (GRCm39) |
K283R |
probably benign |
Het |
Obscn |
T |
C |
11: 58,954,300 (GRCm39) |
T4037A |
|
Het |
Or6b1 |
T |
G |
6: 42,815,247 (GRCm39) |
L144R |
probably damaging |
Het |
Or6b3 |
A |
G |
1: 92,439,330 (GRCm39) |
L140P |
probably damaging |
Het |
Otop2 |
A |
T |
11: 115,217,781 (GRCm39) |
T206S |
probably benign |
Het |
Pamr1 |
A |
G |
2: 102,471,342 (GRCm39) |
|
probably null |
Het |
Pkp1 |
G |
A |
1: 135,805,411 (GRCm39) |
T675I |
probably benign |
Het |
Plxna2 |
G |
A |
1: 194,444,758 (GRCm39) |
V717I |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,975,979 (GRCm39) |
L2P |
possibly damaging |
Het |
Rarg |
A |
G |
15: 102,147,980 (GRCm39) |
F277S |
probably damaging |
Het |
Rassf5 |
A |
T |
1: 131,140,076 (GRCm39) |
I161N |
probably damaging |
Het |
Resf1 |
C |
T |
6: 149,230,902 (GRCm39) |
T1316I |
probably benign |
Het |
Rxfp4 |
A |
G |
3: 88,559,659 (GRCm39) |
V264A |
probably benign |
Het |
Secisbp2l |
T |
A |
2: 125,582,597 (GRCm39) |
Q953L |
probably damaging |
Het |
Serpinb9c |
T |
C |
13: 33,334,218 (GRCm39) |
I275V |
probably benign |
Het |
Slc2a12 |
T |
C |
10: 22,541,141 (GRCm39) |
V332A |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,285,113 (GRCm39) |
S127G |
probably damaging |
Het |
Slc7a4 |
A |
T |
16: 17,393,568 (GRCm39) |
V77E |
probably damaging |
Het |
Sp8 |
G |
A |
12: 118,812,964 (GRCm39) |
S273N |
possibly damaging |
Het |
Spag6l |
G |
T |
16: 16,580,921 (GRCm39) |
N475K |
probably benign |
Het |
St18 |
A |
G |
1: 6,872,913 (GRCm39) |
H216R |
probably benign |
Het |
Tcirg1 |
C |
T |
19: 3,952,843 (GRCm39) |
|
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,658,788 (GRCm39) |
Y87C |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,683,726 (GRCm39) |
V713A |
possibly damaging |
Het |
Tnrc6b |
G |
T |
15: 80,765,363 (GRCm39) |
R955L |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,727,012 (GRCm39) |
V1153A |
probably damaging |
Het |
Tshz3 |
T |
C |
7: 36,468,800 (GRCm39) |
L263S |
probably damaging |
Het |
Tubb6 |
G |
A |
18: 67,534,391 (GRCm39) |
|
probably null |
Het |
Ube3a |
T |
C |
7: 58,926,127 (GRCm39) |
W302R |
probably damaging |
Het |
Vcpkmt |
A |
T |
12: 69,629,519 (GRCm39) |
V81E |
probably damaging |
Het |
Vmn1r175 |
T |
A |
7: 23,508,466 (GRCm39) |
I54F |
possibly damaging |
Het |
Vwa8 |
T |
A |
14: 79,258,075 (GRCm39) |
N741K |
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,033,176 (GRCm39) |
T1034A |
probably benign |
Het |
Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
Zfp207 |
T |
A |
11: 80,286,253 (GRCm39) |
Y424* |
probably null |
Het |
Zfp729a |
A |
G |
13: 67,767,676 (GRCm39) |
V851A |
probably benign |
Het |
Zkscan1 |
G |
T |
5: 138,099,625 (GRCm39) |
A450S |
probably benign |
Het |
Zkscan3 |
A |
G |
13: 21,580,616 (GRCm39) |
V24A |
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 |
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'- TTAGAGTCGGAACCCAGACG -3'
(R):5'- GATTAAAGGTCAGTGCTTGGCTAC -3'
Sequencing Primer
(F):5'- AGACGCCATGCACACTTG -3'
(R):5'- CTTGGCTACAAGCAGGAGGAC -3'
|
Posted On |
2014-07-14 |