Mutagenetix > Incidental Mutation

Incidental Mutation 'R0330:Gmip'

65169

Institutional Source

Beutler Lab

Gene Symbol

Gmip

Ensembl Gene

ENSMUSG00000036246

Gene Name

Gem-interacting protein

Synonyms

5031419I10Rik

MMRRC Submission

038539-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R0330 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70261329-70274520 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70263468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 70 (S70I)

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 benign
Transcript: ENSMUST00000036074
AA Change: S70I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: S70I

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: S70I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: S70I

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: ENSMUST00000138269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156620

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.0%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,038 (GRCm39)	N120S	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
AI661453	G	A	17: 47,757,571 (GRCm39)	R76Q	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arhgap12	T	A	18: 6,039,382 (GRCm39)	D455V	probably damaging	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Arhgef12	A	C	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Arhgef2	A	G	3: 88,549,808 (GRCm39)	H592R	probably damaging	Het
BC049715	A	G	6: 136,817,035 (GRCm39)	T92A	possibly damaging	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Capn8	T	A	1: 182,457,703 (GRCm39)	I689N	probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cep57	G	A	9: 13,728,281 (GRCm39)	R148W	probably damaging	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Chd3	T	G	11: 69,247,159 (GRCm39)	D1003A	probably damaging	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cldn13	A	G	5: 134,944,176 (GRCm39)	V3A	probably benign	Het
Col17a1	T	C	19: 47,658,871 (GRCm39)	T413A	probably benign	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fanca	A	T	8: 124,000,911 (GRCm39)	C1156*	probably null	Het
Flot2	T	A	11: 77,949,784 (GRCm39)	I322N	possibly damaging	Het
Fstl5	T	C	3: 76,615,060 (GRCm39)	V707A	possibly damaging	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Gtf2i	T	C	5: 134,280,740 (GRCm39)	E518G	probably damaging	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Impg2	A	G	16: 56,072,627 (GRCm39)	Y353C	probably damaging	Het
Kank1	A	G	19: 25,401,677 (GRCm39)	K1095E	probably benign	Het
Kcnh4	C	T	11: 100,648,569 (GRCm39)	C45Y	probably damaging	Het
Kif13b	A	G	14: 65,040,669 (GRCm39)	T1590A	probably benign	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrp1b	A	T	2: 40,591,773 (GRCm39)	C73*	probably null	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Med12l	A	G	3: 59,135,123 (GRCm39)	E757G	probably damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myof	A	C	19: 37,924,326 (GRCm39)	I1297S	probably damaging	Het
Nacad	A	G	11: 6,550,903 (GRCm39)	S763P	probably benign	Het
Nbea	A	G	3: 55,550,238 (GRCm39)	V2730A	probably benign	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Optn	A	T	2: 5,039,066 (GRCm39)	N352K	possibly damaging	Het
Or10k2	A	G	8: 84,268,142 (GRCm39)	Y123C	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7g16	A	G	9: 18,726,937 (GRCm39)	Y218H	probably damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Plaat5	T	A	19: 7,614,663 (GRCm39)		probably null	Het
Plb1	T	A	5: 32,512,701 (GRCm39)	F1353Y	probably damaging	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pygo2	T	A	3: 89,340,461 (GRCm39)	N286K	possibly damaging	Het
Rttn	G	A	18: 89,004,204 (GRCm39)		probably null	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Sidt2	A	G	9: 45,866,200 (GRCm39)	I2T	probably benign	Het
Slc12a3	A	T	8: 95,072,974 (GRCm39)	N699I	possibly damaging	Het
Slc25a30	G	A	14: 76,000,112 (GRCm39)	Q285*	probably null	Het
Slc4a9	A	T	18: 36,668,592 (GRCm39)	H724L	probably damaging	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stac3	C	A	10: 127,343,616 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,446,566 (GRCm39)	K339E	probably benign	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tbc1d16	A	G	11: 119,049,555 (GRCm39)		probably null	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Trappc12	A	G	12: 28,797,259 (GRCm39)	V91A	probably benign	Het
Trim46	G	T	3: 89,143,820 (GRCm39)	P536Q	probably damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Vps4a	A	C	8: 107,769,698 (GRCm39)	I336L	probably benign	Het
Xylb	T	C	9: 119,210,653 (GRCm39)	S379P	probably damaging	Het
Zbtb37	T	C	1: 160,860,066 (GRCm39)	T80A	probably benign	Het
Zfhx3	A	G	8: 109,675,589 (GRCm39)	D2213G	probably damaging	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably damaging	Het
Zfp804b	A	T	5: 6,821,029 (GRCm39)	I642N	possibly damaging	Het
Zfp804b	A	T	5: 6,821,994 (GRCm39)	N356K	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
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
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

Posted On

2013-08-08