Mutagenetix > Incidental Mutation

Incidental Mutation 'R7577:Gmip'

586509

Institutional Source

Beutler Lab

Gene Symbol

Gmip

Ensembl Gene

ENSMUSG00000036246

Gene Name

Gem-interacting protein

Synonyms

5031419I10Rik

MMRRC Submission

045662-MU

Accession Numbers

Essential gene?

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

Stock #

R7577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70261329-70274520 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70267085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 327 (E327G)

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: E327G

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: E327G

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: E327G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: E327G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	T	10: 78,902,325 (GRCm39)	V664M	possibly damaging	Het
Abca4	A	G	3: 121,967,663 (GRCm39)	T2238A	probably damaging	Het
Adss2	G	A	1: 177,595,263 (GRCm39)	Q426*	probably null	Het
Afap1l2	T	C	19: 56,933,199 (GRCm39)	E71G	probably damaging	Het
Afg1l	T	C	10: 42,194,607 (GRCm39)	D395G	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Alms1	A	G	6: 85,592,302 (GRCm39)	T385A	probably benign	Het
Ank3	C	T	10: 69,828,402 (GRCm39)	T2357I		Het
Ankfn1	T	A	11: 89,394,797 (GRCm39)	S263C	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
Azin1	C	T	15: 38,501,665 (GRCm39)	V29I	probably benign	Het
B3galt2	T	C	1: 143,523,042 (GRCm39)	Y393H	probably damaging	Het
Cnbd2	G	T	2: 156,170,296 (GRCm39)	R127L	possibly damaging	Het
Col6a5	A	T	9: 105,741,887 (GRCm39)	L2344*	probably null	Het
Csn3	T	C	5: 88,077,821 (GRCm39)	V109A	not run	Het
Cxcr2	C	G	1: 74,198,074 (GRCm39)	N189K	probably benign	Het
Dclre1a	A	G	19: 56,517,965 (GRCm39)	F1038S	probably damaging	Het
Ddx21	T	C	10: 62,426,449 (GRCm39)	Q468R	probably benign	Het
Dlx6	A	G	6: 6,863,423 (GRCm39)	D15G	probably damaging	Het
Dnajb14	T	C	3: 137,610,558 (GRCm39)	V262A	possibly damaging	Het
Dpp7	A	G	2: 25,245,603 (GRCm39)	V161A	probably benign	Het
Enkur	C	T	2: 21,209,913 (GRCm39)	S16N	probably benign	Het
Ensa	C	A	3: 95,535,956 (GRCm39)	H96Q	probably damaging	Het
Ero1b	T	G	13: 12,617,254 (GRCm39)	C393G	probably damaging	Het
Fbxo3	T	C	2: 103,881,543 (GRCm39)	F292L	possibly damaging	Het
Fcgbpl1	A	G	7: 27,853,848 (GRCm39)	D1604G	possibly damaging	Het
Fos	T	C	12: 85,521,871 (GRCm39)	S102P	probably benign	Het
Foxs1	C	T	2: 152,774,361 (GRCm39)	G231S	probably benign	Het
Furin	T	C	7: 80,046,734 (GRCm39)	D174G	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Gm32687	T	A	10: 81,716,023 (GRCm39)	C472S	probably damaging	Het
Gpld1	A	G	13: 25,146,388 (GRCm39)	T211A	probably benign	Het
Grin2d	T	C	7: 45,511,803 (GRCm39)	H214R	probably benign	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hnrnpd	A	T	5: 100,115,113 (GRCm39)	F142I	probably damaging	Het
Krt32	T	A	11: 99,972,047 (GRCm39)	T434S	probably benign	Het
Lct	T	G	1: 128,228,469 (GRCm39)	D1008A	probably damaging	Het
Man1c1	A	G	4: 134,291,814 (GRCm39)		probably null	Het
Marchf7	T	A	2: 60,060,048 (GRCm39)	C58*	probably null	Het
Mccc1	C	T	3: 36,029,943 (GRCm39)		probably null	Het
Mybpc1	T	A	10: 88,385,187 (GRCm39)	D484V	probably damaging	Het
Myh10	T	A	11: 68,636,806 (GRCm39)	C227S	unknown	Het
Niban1	T	A	1: 151,594,063 (GRCm39)	V916E	probably benign	Het
Nin	T	C	12: 70,109,480 (GRCm39)	E153G		Het
Nr1h2	G	A	7: 44,200,216 (GRCm39)	T313M	probably damaging	Het
Or4g7	T	A	2: 111,309,477 (GRCm39)	I116K	probably damaging	Het
Or5k15	G	T	16: 58,709,629 (GRCm39)	A318D	probably benign	Het
Otog	C	A	7: 45,937,279 (GRCm39)	H1663N	possibly damaging	Het
Piezo2	G	T	18: 63,186,081 (GRCm39)	T1696K	probably benign	Het
Plcd1	A	T	9: 118,901,322 (GRCm39)	N703K	possibly damaging	Het
Plekhg4	T	A	8: 106,102,031 (GRCm39)	C7S	probably benign	Het
Pnma2	A	G	14: 67,153,428 (GRCm39)		probably benign	Het
Potegl	A	G	2: 23,097,837 (GRCm39)	Y5C	probably benign	Het
Prag1	A	G	8: 36,614,096 (GRCm39)	Y1216C	probably damaging	Het
Prima1	T	C	12: 103,163,566 (GRCm39)	Y135C	probably damaging	Het
Prkce	C	A	17: 86,800,721 (GRCm39)	S379*	probably null	Het
Prmt7	A	G	8: 106,968,835 (GRCm39)	N383S	probably damaging	Het
Ptafr	A	G	4: 132,307,063 (GRCm39)	Y151C	probably damaging	Het
Ptprn2	T	C	12: 116,449,486 (GRCm39)	M1T	probably null	Het
Rad23a	A	T	8: 85,565,108 (GRCm39)	S136T	probably benign	Het
Rnf123	A	T	9: 107,947,818 (GRCm39)	Y137N	probably damaging	Het
Sfxn4	A	C	19: 60,842,324 (GRCm39)	I126S	probably benign	Het
Slc4a4	A	G	5: 89,373,726 (GRCm39)	H935R	probably damaging	Het
Slitrk3	T	G	3: 72,958,448 (GRCm39)	N108T	probably damaging	Het
Spred1	T	A	2: 117,007,806 (GRCm39)	H237Q	probably benign	Het
Syne1	T	A	10: 5,074,820 (GRCm39)	K1168N	probably damaging	Het
Syt14	T	C	1: 192,665,885 (GRCm39)	K340E	unknown	Het
Tespa1	T	C	10: 130,190,624 (GRCm39)	S84P	probably damaging	Het
Tmem268	G	T	4: 63,480,681 (GRCm39)		probably benign	Het
Tmem52b	T	A	6: 129,493,040 (GRCm39)	Y48*	probably null	Het
Tox2	C	A	2: 163,157,822 (GRCm39)	Y295*	probably null	Het
Trp53bp1	T	G	2: 121,067,119 (GRCm39)	T536P	possibly damaging	Het
Tysnd1	T	C	10: 61,531,665 (GRCm39)	C106R	probably benign	Het
Unc5d	T	C	8: 29,381,449 (GRCm39)	I63V	probably damaging	Het
Vmn1r235	A	G	17: 21,481,881 (GRCm39)	N69D	possibly damaging	Het
Vps11	A	T	9: 44,260,258 (GRCm39)	M868K	probably benign	Het
Wipf3	A	G	6: 54,462,509 (GRCm39)	T240A	possibly damaging	Het
Xirp2	G	A	2: 67,345,309 (GRCm39)	E2517K	possibly damaging	Het
Ylpm1	T	A	12: 85,043,994 (GRCm39)	L244Q	unknown	Het
Zdhhc18	G	T	4: 133,342,520 (GRCm39)	S198*	probably null	Het
Zfp760	T	A	17: 21,941,242 (GRCm39)	L139*	probably null	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
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'- TTACTGTAGGCCCCATACCCTG -3'
(R):5'- AAGTAAGGGGCTCATCTGGG -3'

Sequencing Primer
(F):5'- GTAGGCCCCATACCCTGATGAC -3'
(R):5'- GTATGTACTAAAACTCCAAGCCCAG -3'

Posted On

2019-10-24