Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Arhgap10'

513073

Institutional Source

Beutler Lab

Gene Symbol

Arhgap10

Ensembl Gene

ENSMUSG00000037148

Gene Name

Rho GTPase activating protein 10

Synonyms

PSGAP-m, A930033B01Rik, PSGAP-s

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77250366-77517953 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 77259202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 657 (Q657*)

Ref Sequence

ENSEMBL: ENSMUSP00000147493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076316] [ENSMUST00000210519] [ENSMUST00000210922]

AlphaFold

Q6Y5D8

Predicted Effect

probably null
Transcript: ENSMUST00000076316
AA Change: Q679*

SMART Domains

Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: Q679*

Domain	Start	End	E-Value	Type
Pfam:BAR_3	6	249	3.3e-91	PFAM
PH	266	374	1.93e-6	SMART
RhoGAP	393	571	1.66e-63	SMART
low complexity region	633	649	N/A	INTRINSIC
SH3	731	786	1.91e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000210519
AA Change: Q657*

Predicted Effect

probably benign
Transcript: ENSMUST00000210922

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit paraparesis, ataxic hindlimbs and splaying of hindlimbs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Car15	T	C	16: 17,838,066	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Dab2ip	A	G	2: 35,710,266	H355R	probably benign	Het
Dennd2a	C	T	6: 39,493,142	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709	E173G	probably damaging	Het
Dock7	T	C	4: 98,969,662	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619	H73P	probably damaging	Het
Fam46b	T	C	4: 133,486,756	F313L	probably damaging	Het
Flg	A	G	3: 93,290,601		probably benign	Het
Fyn	C	A	10: 39,526,883	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,083,730	D330G	probably benign	Het
Gin1	T	C	1: 97,792,539	S509P	possibly damaging	Het
Gm15922	A	T	7: 3,736,504	L455Q	probably damaging	Het
Gm17067	A	C	7: 42,708,482	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109	T21S	probably benign	Het
Numb	C	A	12: 83,797,262	R383L	probably damaging	Het
Olfr1370	A	T	13: 21,072,583	N239K	probably damaging	Het
Olfr461	G	T	6: 40,544,713	Q89K	possibly damaging	Het
Park2	T	C	17: 12,004,052	F363S	probably damaging	Het
Pcdhb11	A	T	18: 37,422,159	I181F	probably benign	Het
Pcgf2	T	A	11: 97,692,409		probably null	Het
Pdzd8	T	C	19: 59,300,983	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690	V180G	probably benign	Het
Pkp4	T	A	2: 59,214,747	V22D	probably benign	Het
Ppp1r32	T	C	19: 10,479,481	N167D	probably damaging	Het
Prpf4b	A	C	13: 34,901,433	D954A	probably damaging	Het
Rfx8	T	C	1: 39,680,965	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,361,419	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778	C453S	possibly damaging	Het
Scarf1	G	T	11: 75,515,669	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728		probably benign	Het
Ssh1	T	C	5: 113,961,347		probably null	Het
Tas2r143	A	C	6: 42,400,835	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629	P19S	probably damaging	Het
Tmc5	T	A	7: 118,633,966	M1K	probably null	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,769,441	E285G	probably damaging	Het
Txndc11	C	T	16: 11,084,792	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341	M259V	probably benign	Het
Zbtb46	T	C	2: 181,391,455	D471G	probably damaging	Het

Other mutations in Arhgap10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Arhgap10	APN	8	77346291	missense	possibly damaging	0.80
IGL01689:Arhgap10	APN	8	77411134	splice site	probably benign
IGL01802:Arhgap10	APN	8	77420085	missense	probably damaging	0.99
IGL01832:Arhgap10	APN	8	77259129	missense	probably benign	0.00
IGL02291:Arhgap10	APN	8	77382715	splice site	probably benign
IGL02834:Arhgap10	APN	8	77365100	missense	probably damaging	1.00
IGL02928:Arhgap10	APN	8	77250910	unclassified	probably benign
IGL03149:Arhgap10	APN	8	77409538	splice site	probably benign
IGL03215:Arhgap10	APN	8	77277152	missense	probably benign
IGL03331:Arhgap10	APN	8	77420082	missense	probably damaging	0.99
R0276:Arhgap10	UTSW	8	77413581	missense	probably benign	0.11
R0376:Arhgap10	UTSW	8	77450824	splice site	probably benign
R0454:Arhgap10	UTSW	8	77250965	missense	probably damaging	0.97
R0714:Arhgap10	UTSW	8	77351687	splice site	probably benign
R1033:Arhgap10	UTSW	8	77257347	missense	possibly damaging	0.80
R1036:Arhgap10	UTSW	8	77310769	missense	probably damaging	0.98
R1083:Arhgap10	UTSW	8	77517749	missense	probably damaging	1.00
R1596:Arhgap10	UTSW	8	77450697	missense	possibly damaging	0.93
R1710:Arhgap10	UTSW	8	77358587	nonsense	probably null
R1918:Arhgap10	UTSW	8	77259079	missense	probably benign
R1937:Arhgap10	UTSW	8	77344653	missense	probably damaging	1.00
R1959:Arhgap10	UTSW	8	77409626	missense	possibly damaging	0.78
R2348:Arhgap10	UTSW	8	77450926	splice site	probably benign
R3703:Arhgap10	UTSW	8	77259056	critical splice donor site	probably null
R3979:Arhgap10	UTSW	8	77420725	missense	probably benign	0.01
R4854:Arhgap10	UTSW	8	77420089	nonsense	probably null
R4855:Arhgap10	UTSW	8	77432738	critical splice donor site	probably null
R4928:Arhgap10	UTSW	8	77426328	critical splice donor site	probably null
R5033:Arhgap10	UTSW	8	77382757	missense	probably damaging	0.99
R5532:Arhgap10	UTSW	8	77420072	missense	probably benign	0.19
R5644:Arhgap10	UTSW	8	77411055	missense	probably benign	0.00
R5781:Arhgap10	UTSW	8	77450707	missense	possibly damaging	0.56
R5824:Arhgap10	UTSW	8	77358552	nonsense	probably null
R5861:Arhgap10	UTSW	8	77310764	missense	probably damaging	1.00
R5872:Arhgap10	UTSW	8	77344638	critical splice donor site	probably null
R6423:Arhgap10	UTSW	8	77517757	missense	probably damaging	1.00
R6694:Arhgap10	UTSW	8	77411063	missense	probably benign	0.00
R6900:Arhgap10	UTSW	8	77310862	missense	probably damaging	1.00
R6936:Arhgap10	UTSW	8	77310747	nonsense	probably null
R7001:Arhgap10	UTSW	8	77365088	missense	possibly damaging	0.51
R7150:Arhgap10	UTSW	8	77250954	missense	probably damaging	1.00
R7461:Arhgap10	UTSW	8	77388697	missense	probably damaging	0.99
R7525:Arhgap10	UTSW	8	77420070	critical splice donor site	probably null
R8051:Arhgap10	UTSW	8	77517680	missense	probably damaging	0.97
R8081:Arhgap10	UTSW	8	77382746	missense	possibly damaging	0.68
R8175:Arhgap10	UTSW	8	77310842	missense	probably benign	0.03
R8262:Arhgap10	UTSW	8	77310839	missense	probably benign
R8702:Arhgap10	UTSW	8	77259103	missense	probably benign
R8778:Arhgap10	UTSW	8	77413611	missense	probably damaging	1.00
R9015:Arhgap10	UTSW	8	77259058	missense	probably benign
R9113:Arhgap10	UTSW	8	77259072	missense	probably damaging	1.00
R9275:Arhgap10	UTSW	8	77411036	missense	probably damaging	1.00
R9457:Arhgap10	UTSW	8	77384786	missense	probably benign	0.43
R9623:Arhgap10	UTSW	8	77259157	missense	probably benign
Z1176:Arhgap10	UTSW	8	77277175	missense	probably benign	0.01
Z1176:Arhgap10	UTSW	8	77432805	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATCCAGGGCAAGCATTTCCTAAG -3'
(R):5'- AAGTGGCTCAGGGTGTAGTC -3'

Sequencing Primer
(F):5'- TTTCCTAAGAGGGATGTCACAGCC -3'
(R):5'- CCTGGGAAGGTACAGAGAACTCTAC -3'

Posted On

2018-04-27