Incidental Mutation 'R9350:Gmip'
| ID |
708020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmip
|
| Ensembl Gene |
ENSMUSG00000036246 |
| Gene Name |
Gem-interacting protein |
| Synonyms |
5031419I10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R9350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70263832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 92
(I92N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034326]
[ENSMUST00000036074]
[ENSMUST00000123453]
|
| AlphaFold |
Q6PGG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034326
|
| SMART Domains |
Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
62 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
264 |
515 |
3.2e-24 |
PFAM |
|
Pfam:Hydrolase
|
524 |
781 |
2.2e-11 |
PFAM |
|
Pfam:HAD
|
527 |
870 |
2.7e-27 |
PFAM |
|
low complexity region
|
883 |
894 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1045 |
1067 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1093 |
1115 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1130 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036074
AA Change: I92N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: I92N
| 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: I92N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: I92N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
A |
8: 44,022,669 (GRCm39) |
M274L |
probably benign |
Het |
| Adarb1 |
T |
A |
10: 77,158,267 (GRCm39) |
N60I |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,654,274 (GRCm39) |
N2919I |
probably damaging |
Het |
| Adora3 |
C |
T |
3: 105,814,613 (GRCm39) |
T121M |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,965,260 (GRCm39) |
N423Y |
probably damaging |
Het |
| Arhgap19 |
A |
T |
19: 41,761,566 (GRCm39) |
F466Y |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,417,315 (GRCm39) |
T492I |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,170,393 (GRCm39) |
S248P |
probably damaging |
Het |
| Casp2 |
T |
C |
6: 42,246,332 (GRCm39) |
V230A |
probably benign |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Ctnnbl1 |
G |
A |
2: 157,651,445 (GRCm39) |
G240E |
possibly damaging |
Het |
| Dennd2c |
T |
C |
3: 103,039,308 (GRCm39) |
L152P |
possibly damaging |
Het |
| Dhx16 |
T |
A |
17: 36,200,203 (GRCm39) |
F874Y |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,562,369 (GRCm39) |
Y2643F |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,384,073 (GRCm39) |
V1048L |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,436,307 (GRCm39) |
I4012V |
probably benign |
Het |
| Duox2 |
G |
A |
2: 122,115,729 (GRCm39) |
R1002* |
probably null |
Het |
| Ears2 |
T |
A |
7: 121,643,786 (GRCm39) |
K391* |
probably null |
Het |
| Eif4e |
T |
C |
3: 138,259,470 (GRCm39) |
V176A |
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,329,638 (GRCm39) |
I626L |
probably benign |
Het |
| Fam171a1 |
C |
T |
2: 3,226,037 (GRCm39) |
T390I |
probably benign |
Het |
| Fam187b |
A |
G |
7: 30,677,037 (GRCm39) |
E182G |
possibly damaging |
Het |
| Fam204a |
A |
G |
19: 60,209,685 (GRCm39) |
V15A |
probably benign |
Het |
| Fscn3 |
C |
T |
6: 28,430,432 (GRCm39) |
R201* |
probably null |
Het |
| Fzd6 |
A |
G |
15: 38,895,043 (GRCm39) |
D403G |
probably damaging |
Het |
| Gars1 |
G |
A |
6: 55,029,249 (GRCm39) |
A210T |
probably null |
Het |
| Gmcl1 |
A |
T |
6: 86,677,569 (GRCm39) |
I428N |
probably damaging |
Het |
| Il17rc |
G |
A |
6: 113,456,048 (GRCm39) |
V298I |
probably damaging |
Het |
| Kifap3 |
A |
G |
1: 163,610,630 (GRCm39) |
I37V |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,963,789 (GRCm39) |
K505E |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,692,396 (GRCm39) |
|
probably null |
Het |
| Mmp15 |
G |
A |
8: 96,093,002 (GRCm39) |
R127H |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,889,658 (GRCm39) |
T402A |
possibly damaging |
Het |
| Or10d1c |
A |
T |
9: 38,894,081 (GRCm39) |
N86K |
probably benign |
Het |
| Or4k6 |
T |
A |
14: 50,475,407 (GRCm39) |
I312L |
probably benign |
Het |
| Papln |
A |
T |
12: 83,833,638 (GRCm39) |
I1185F |
probably damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,705 (GRCm39) |
N399D |
probably benign |
Het |
| Pcdhgb6 |
T |
A |
18: 37,876,872 (GRCm39) |
S527T |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,743,493 (GRCm39) |
Y530* |
probably null |
Het |
| Pira2 |
A |
G |
7: 3,844,030 (GRCm39) |
S581P |
probably benign |
Het |
| Pou4f3 |
A |
T |
18: 42,528,329 (GRCm39) |
T91S |
probably benign |
Het |
| Prpf38a |
A |
G |
4: 108,424,112 (GRCm39) |
S296P |
unknown |
Het |
| Rnf213 |
T |
C |
11: 119,332,975 (GRCm39) |
V2729A |
|
Het |
| Rtl1 |
G |
A |
12: 109,557,226 (GRCm39) |
Q1538* |
probably null |
Het |
| Sars2 |
T |
C |
7: 28,447,273 (GRCm39) |
S224P |
probably damaging |
Het |
| Senp8 |
A |
G |
9: 59,645,105 (GRCm39) |
V17A |
probably benign |
Het |
| Serpinb13 |
T |
A |
1: 106,923,562 (GRCm39) |
L89* |
probably null |
Het |
| Sh3bp2 |
T |
A |
5: 34,718,453 (GRCm39) |
|
probably null |
Het |
| Shank2 |
A |
G |
7: 143,960,945 (GRCm39) |
T254A |
probably benign |
Het |
| Smdt1 |
A |
T |
15: 82,231,504 (GRCm39) |
E12D |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,817,345 (GRCm39) |
N295S |
probably damaging |
Het |
| Trim24 |
A |
G |
6: 37,892,208 (GRCm39) |
Q247R |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,209,610 (GRCm39) |
N658K |
probably damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,284,348 (GRCm38) |
D137G |
probably damaging |
Het |
| Ubn1 |
T |
A |
16: 4,899,422 (GRCm39) |
H1055Q |
probably benign |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,190 (GRCm39) |
T172A |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,333 (GRCm39) |
F1087L |
|
Het |
| Xirp2 |
T |
C |
2: 67,349,653 (GRCm39) |
S3283P |
probably damaging |
Het |
| Zeb2 |
C |
A |
2: 44,887,158 (GRCm39) |
S633I |
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 |
|
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 |
|
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'- AAGGATTCCCCAGTCTTAGTAGAG -3'
(R):5'- TCTTAGCAAACTCGAGCTCTAGG -3'
Sequencing Primer
(F):5'- TCCCCAGTCTTAGTAGAGAATTTG -3'
(R):5'- CTCGAGCTCTAGGAGGAGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation