Mutagenetix > Incidental Mutation

Incidental Mutation 'R0510:Gmip'

47816

Institutional Source

Beutler Lab

Gene Symbol

Gmip

Ensembl Gene

ENSMUSG00000036246

Gene Name

Gem-interacting protein

Synonyms

5031419I10Rik

MMRRC Submission

038704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R0510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70261329-70274520 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 70268259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036074] [ENSMUST00000123453]

AlphaFold

Q6PGG2

Predicted Effect

probably benign
Transcript: ENSMUST00000036074

SMART Domains

Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246

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

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (102/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Brd8dc	A	T	18: 34,729,204 (GRCm39)	D42E	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,875,579 (GRCm39)		probably null	Het
Celsr3	G	A	9: 108,704,204 (GRCm39)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Col11a1	A	T	3: 113,899,105 (GRCm39)		probably benign	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Cpsf1	A	T	15: 76,487,857 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,955,045 (GRCm39)	V272A	probably damaging	Het
Creld2	A	T	15: 88,704,159 (GRCm39)	N50I	probably damaging	Het
Cyb5r1	T	C	1: 134,337,430 (GRCm39)		probably benign	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dgat1	T	C	15: 76,395,767 (GRCm39)	Y72C	possibly damaging	Het
Efr3b	G	T	12: 4,032,058 (GRCm39)	D183E	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Etfbkmt	C	T	6: 149,052,082 (GRCm39)	R96W	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Fat3	C	A	9: 15,910,981 (GRCm39)	E1674*	probably null	Het
Fbn1	A	G	2: 125,184,845 (GRCm39)		probably benign	Het
Gm5134	C	A	10: 75,810,079 (GRCm39)	T120N	probably benign	Het
Gpbp1	G	T	13: 111,577,279 (GRCm39)	Q204K	possibly damaging	Het
Gpr108	T	C	17: 57,542,358 (GRCm39)	D549G	possibly damaging	Het
Gsdme	C	A	6: 50,223,107 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,553,218 (GRCm39)	Q135*	probably null	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Hs3st2	T	C	7: 121,099,792 (GRCm39)	S213P	probably damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Itpr2	T	C	6: 146,319,477 (GRCm39)	T188A	possibly damaging	Het
Kcnh1	T	A	1: 192,101,249 (GRCm39)		probably benign	Het
Kctd21	T	C	7: 96,996,748 (GRCm39)	F74L	probably damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lmtk3	T	A	7: 45,443,536 (GRCm39)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Mtss1	A	T	15: 58,828,387 (GRCm39)	D175E	probably benign	Het
Myef2	A	T	2: 124,950,954 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,180,755 (GRCm39)		probably benign	Het
Or14a259	T	C	7: 86,013,035 (GRCm39)	N170S	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,348,995 (GRCm39)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,126,808 (GRCm39)	N296Y	probably damaging	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Pim1	T	C	17: 29,712,883 (GRCm39)		probably benign	Het
Pou6f2	A	G	13: 18,314,308 (GRCm39)		probably benign	Het
Prelid3b	A	G	2: 174,307,743 (GRCm39)		probably benign	Het
Proc	G	A	18: 32,258,171 (GRCm39)	T258I	probably benign	Het
Rab3gap2	T	C	1: 184,992,705 (GRCm39)		probably benign	Het
Rb1cc1	A	C	1: 6,319,395 (GRCm39)	K938T	probably benign	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,953 (GRCm39)	K550E	probably benign	Het
Rps6ka4	G	T	19: 6,817,866 (GRCm39)	T17N	probably benign	Het
Rtn4	T	A	11: 29,683,849 (GRCm39)		probably benign	Het
Ruvbl2	C	T	7: 45,080,730 (GRCm39)		probably benign	Het
Scaper	A	G	9: 55,665,346 (GRCm39)		probably benign	Het
Sdc2	T	C	15: 33,017,235 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,584,956 (GRCm39)	N318I	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slco2b1	T	A	7: 99,310,743 (GRCm39)	M603L	probably benign	Het
Smpdl3b	A	G	4: 132,472,449 (GRCm39)	V108A	probably damaging	Het
Sptbn4	C	T	7: 27,060,991 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,065,854 (GRCm39)		probably benign	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Sv2b	T	G	7: 74,786,140 (GRCm39)	M427L	probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	T	C	12: 75,900,923 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Trpm1	G	A	7: 63,873,506 (GRCm39)	G587D	probably damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,157,534 (GRCm39)	S2364A	probably benign	Het
Ush2a	T	A	1: 188,466,860 (GRCm39)		probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,077,216 (GRCm39)	S317T	possibly damaging	Het
Vwa2	A	G	19: 56,886,500 (GRCm39)		probably benign	Het
Wdr73	G	A	7: 80,547,698 (GRCm39)	Q107*	probably null	Het
Zbtb10	T	A	3: 9,329,728 (GRCm39)	V362E	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp296	A	T	7: 19,311,831 (GRCm39)	M113L	probably benign	Het
Zfp729b	A	T	13: 67,739,253 (GRCm39)	V1004E	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
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

PCR Primer
(F):5'- ATCCTTAGAGTCGGAACCCAGACG -3'
(R):5'- ACGAAGCCTTTACAAGTCGGCG -3'

Sequencing Primer
(F):5'- TGGGGATCAAGCCCTCAATC -3'
(R):5'- GTGGTTTAGAGGAAATTCCCACC -3'

Posted On

2013-06-12