Incidental Mutation 'R7412:Gmip'
| ID |
575155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmip
|
| Ensembl Gene |
ENSMUSG00000036246 |
| Gene Name |
Gem-interacting protein |
| Synonyms |
5031419I10Rik |
| MMRRC Submission |
045493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R7412 (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 G
at 70273149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 845
(D845E)
|
| 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 benign
Transcript: ENSMUST00000036074
AA Change: D845E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: D845E
| 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 |
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (71/73) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,448,691 (GRCm39) |
Y335* |
probably null |
Het |
| Alpk1 |
A |
T |
3: 127,466,143 (GRCm39) |
L1121Q |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,489,382 (GRCm39) |
I99T |
probably damaging |
Het |
| Ap2a2 |
T |
A |
7: 141,206,049 (GRCm39) |
F717I |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,222,477 (GRCm39) |
D1152N |
probably benign |
Het |
| Arvcf |
A |
G |
16: 18,220,350 (GRCm39) |
D642G |
probably benign |
Het |
| Astn1 |
T |
G |
1: 158,329,919 (GRCm39) |
M258R |
probably damaging |
Het |
| Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
| Carmil1 |
T |
C |
13: 24,282,793 (GRCm39) |
D547G |
possibly damaging |
Het |
| Ccdc177 |
A |
G |
12: 80,805,792 (GRCm39) |
F161L |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cnot10 |
A |
G |
9: 114,454,971 (GRCm39) |
Y221H |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,855 (GRCm39) |
I145F |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,801,434 (GRCm39) |
T865A |
probably benign |
Het |
| Cyp4f37 |
A |
G |
17: 32,848,818 (GRCm39) |
S229G |
possibly damaging |
Het |
| Ddx56 |
G |
A |
11: 6,211,720 (GRCm39) |
T462I |
probably damaging |
Het |
| Dhx30 |
T |
C |
9: 109,921,966 (GRCm39) |
M239V |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,597,173 (GRCm39) |
K994E |
probably damaging |
Het |
| Fam83a |
A |
C |
15: 57,849,821 (GRCm39) |
T122P |
probably benign |
Het |
| Fbxo24 |
C |
A |
5: 137,617,885 (GRCm39) |
C293F |
possibly damaging |
Het |
| Fech |
A |
T |
18: 64,591,255 (GRCm39) |
S390T |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,762,748 (GRCm39) |
H750R |
probably benign |
Het |
| Frmpd2 |
A |
G |
14: 33,293,926 (GRCm39) |
D1364G |
probably benign |
Het |
| Ganab |
T |
C |
19: 8,889,892 (GRCm39) |
I652T |
probably benign |
Het |
| Gm21103 |
T |
A |
14: 17,482,943 (GRCm39) |
T153S |
probably benign |
Het |
| Gm21886 |
GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG |
GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG |
18: 80,132,967 (GRCm39) |
|
probably benign |
Het |
| Gm5799 |
A |
G |
14: 43,781,995 (GRCm39) |
I56V |
possibly damaging |
Het |
| Gm7276 |
T |
C |
18: 77,273,183 (GRCm39) |
R184G |
unknown |
Het |
| Hspa9 |
T |
C |
18: 35,082,082 (GRCm39) |
K175E |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,752,068 (GRCm39) |
F890L |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,522,963 (GRCm39) |
V160D |
probably benign |
Het |
| Klrb1f |
C |
T |
6: 129,033,308 (GRCm39) |
R179* |
probably null |
Het |
| Nasp |
A |
G |
4: 116,467,785 (GRCm39) |
V400A |
possibly damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,598,847 (GRCm39) |
K25N |
possibly damaging |
Het |
| Ndrg1 |
A |
C |
15: 66,832,382 (GRCm39) |
M1R |
probably null |
Het |
| Nf1 |
G |
A |
11: 79,364,240 (GRCm39) |
A1557T |
probably damaging |
Het |
| Nrde2 |
G |
A |
12: 100,108,509 (GRCm39) |
Q361* |
probably null |
Het |
| Opn1sw |
A |
T |
6: 29,379,856 (GRCm39) |
L126Q |
probably damaging |
Het |
| Or10ak16 |
A |
T |
4: 118,750,327 (GRCm39) |
I16F |
possibly damaging |
Het |
| Or1af1 |
C |
T |
2: 37,109,774 (GRCm39) |
T91I |
possibly damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,478 (GRCm39) |
L140P |
probably benign |
Het |
| Or5au1 |
A |
T |
14: 52,273,310 (GRCm39) |
L86* |
probably null |
Het |
| Or7g17 |
A |
T |
9: 18,768,085 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,422 (GRCm39) |
F104L |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,853,048 (GRCm39) |
Y616H |
probably damaging |
Het |
| Pagr1a |
T |
C |
7: 126,615,736 (GRCm39) |
T120A |
probably benign |
Het |
| Patj |
A |
G |
4: 98,299,376 (GRCm39) |
E166G |
probably damaging |
Het |
| Plk4 |
G |
A |
3: 40,766,613 (GRCm39) |
V764I |
probably benign |
Het |
| Polr3h |
G |
A |
15: 81,800,602 (GRCm39) |
|
probably null |
Het |
| Ptprb |
T |
A |
10: 116,177,043 (GRCm39) |
D989E |
probably benign |
Het |
| Sdk2 |
A |
T |
11: 113,758,909 (GRCm39) |
|
probably null |
Het |
| Setd1b |
C |
A |
5: 123,290,639 (GRCm39) |
R869S |
unknown |
Het |
| Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
| Skint8 |
G |
A |
4: 111,785,758 (GRCm39) |
G68D |
probably benign |
Het |
| Slc22a7 |
A |
T |
17: 46,745,553 (GRCm39) |
V326E |
probably benign |
Het |
| Slc39a1 |
T |
G |
3: 90,156,396 (GRCm39) |
L38R |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,362,506 (GRCm39) |
|
probably null |
Het |
| Sptlc3 |
A |
G |
2: 139,431,537 (GRCm39) |
E353G |
possibly damaging |
Het |
| Ssh2 |
G |
T |
11: 77,340,934 (GRCm39) |
L695F |
probably damaging |
Het |
| Tacr2 |
C |
A |
10: 62,097,427 (GRCm39) |
Y302* |
probably null |
Het |
| Tas2r117 |
T |
C |
6: 132,780,192 (GRCm39) |
L110P |
probably damaging |
Het |
| Tex9 |
A |
T |
9: 72,394,060 (GRCm39) |
|
probably null |
Het |
| Tmem17 |
A |
T |
11: 22,468,645 (GRCm39) |
T195S |
probably benign |
Het |
| Trcg1 |
T |
A |
9: 57,148,766 (GRCm39) |
S113T |
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,954,422 (GRCm39) |
F826I |
probably benign |
Het |
| Usp17lc |
A |
G |
7: 103,067,575 (GRCm39) |
Y290C |
probably damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,477,212 (GRCm39) |
D393V |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,871,541 (GRCm39) |
L290P |
|
Het |
| Xpnpep1 |
G |
C |
19: 52,994,722 (GRCm39) |
A302G |
probably benign |
Het |
| Xrn2 |
T |
C |
2: 146,891,266 (GRCm39) |
L692P |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,356,720 (GRCm39) |
S649G |
probably benign |
Het |
| Zscan4b |
C |
T |
7: 10,634,791 (GRCm39) |
C484Y |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,635,820 (GRCm39) |
D169G |
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 |
|
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'- TGCTTCCACAGTGAATCCTC -3'
(R):5'- AGACAGTGACAGGAGTCTCC -3'
Sequencing Primer
(F):5'- CACAGTGAATCCTCTTAATTTACCG -3'
(R):5'- GTTGATGAGTAACTGGCCTCACAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation