Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01802:Arhgap10'

155553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap10

Ensembl Gene

ENSMUSG00000037148

Gene Name

Rho GTPase activating protein 10

Synonyms

PSGAP-s, A930033B01Rik, PSGAP-m

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

IGL01802

Quality Score

Status

Chromosome

Chromosomal Location

77976995-78244582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78146714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 230 (I230T)

Ref Sequence

ENSEMBL: ENSMUSP00000147485 (fasta)

Gene Model

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

AlphaFold

Q6Y5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000076316
AA Change: I230T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: I230T

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 damaging
Transcript: ENSMUST00000210519
AA Change: I230T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210922
AA Change: I230T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,242,438 (GRCm39)	M1434L	probably benign	Het
Acta2	T	A	19: 34,220,836 (GRCm39)	I291F	possibly damaging	Het
Ark2c	A	T	18: 77,550,610 (GRCm39)	L106Q	probably damaging	Het
Copb1	A	C	7: 113,826,011 (GRCm39)	S658A	probably benign	Het
Crtc3	A	T	7: 80,254,116 (GRCm39)	C244*	probably null	Het
Cyp4a14	G	A	4: 115,352,134 (GRCm39)	R93*	probably null	Het
Dclk2	A	G	3: 86,706,334 (GRCm39)	F586L	probably damaging	Het
Dmtn	G	T	14: 70,842,259 (GRCm39)	F358L	probably damaging	Het
Enam	A	T	5: 88,651,533 (GRCm39)	H1014L	possibly damaging	Het
Ercc6	A	G	14: 32,284,531 (GRCm39)	T765A	probably damaging	Het
Gtf3c4	T	C	2: 28,724,092 (GRCm39)	K547E	probably damaging	Het
Hdc	G	T	2: 126,445,814 (GRCm39)	A230D	probably benign	Het
Hipk3	A	T	2: 104,302,198 (GRCm39)		probably benign	Het
Kidins220	A	G	12: 25,044,999 (GRCm39)	I264M	probably damaging	Het
Lrp1b	C	T	2: 41,401,494 (GRCm39)	V387I	probably benign	Het
Mmp8	T	G	9: 7,567,441 (GRCm39)	F434V	probably benign	Het
Nr3c2	C	A	8: 77,635,224 (GRCm39)	Y108*	probably null	Het
Or4k5	T	G	14: 50,386,173 (GRCm39)	S53R	probably benign	Het
Or5b119	T	C	19: 13,456,729 (GRCm39)	M278V	probably benign	Het
Pnpt1	A	T	11: 29,104,306 (GRCm39)	D560V	probably damaging	Het
Rbbp8nl	T	C	2: 179,921,488 (GRCm39)	S299G	probably benign	Het
Slc9a4	A	T	1: 40,646,958 (GRCm39)	N484I	probably damaging	Het
Sncaip	C	T	18: 53,002,109 (GRCm39)	S210F	probably damaging	Het
Tiam1	G	T	16: 89,695,260 (GRCm39)	Q66K	possibly damaging	Het
Ttc39a	C	A	4: 109,290,281 (GRCm39)	Y330*	probably null	Het
Ush2a	T	G	1: 188,169,154 (GRCm39)	D1098E	probably damaging	Het
Vmn2r103	A	G	17: 20,019,470 (GRCm39)	E518G	probably benign	Het

Other mutations in Arhgap10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Arhgap10	APN	8	78,072,920 (GRCm39)	missense	possibly damaging	0.80
IGL01689:Arhgap10	APN	8	78,137,763 (GRCm39)	splice site	probably benign
IGL01832:Arhgap10	APN	8	77,985,758 (GRCm39)	missense	probably benign	0.00
IGL02291:Arhgap10	APN	8	78,109,344 (GRCm39)	splice site	probably benign
IGL02834:Arhgap10	APN	8	78,091,729 (GRCm39)	missense	probably damaging	1.00
IGL02928:Arhgap10	APN	8	77,977,539 (GRCm39)	unclassified	probably benign
IGL03149:Arhgap10	APN	8	78,136,167 (GRCm39)	splice site	probably benign
IGL03215:Arhgap10	APN	8	78,003,781 (GRCm39)	missense	probably benign
IGL03331:Arhgap10	APN	8	78,146,711 (GRCm39)	missense	probably damaging	0.99
R0276:Arhgap10	UTSW	8	78,140,210 (GRCm39)	missense	probably benign	0.11
R0376:Arhgap10	UTSW	8	78,177,453 (GRCm39)	splice site	probably benign
R0454:Arhgap10	UTSW	8	77,977,594 (GRCm39)	missense	probably damaging	0.97
R0714:Arhgap10	UTSW	8	78,078,316 (GRCm39)	splice site	probably benign
R1033:Arhgap10	UTSW	8	77,983,976 (GRCm39)	missense	possibly damaging	0.80
R1036:Arhgap10	UTSW	8	78,037,398 (GRCm39)	missense	probably damaging	0.98
R1083:Arhgap10	UTSW	8	78,244,378 (GRCm39)	missense	probably damaging	1.00
R1596:Arhgap10	UTSW	8	78,177,326 (GRCm39)	missense	possibly damaging	0.93
R1710:Arhgap10	UTSW	8	78,085,216 (GRCm39)	nonsense	probably null
R1918:Arhgap10	UTSW	8	77,985,708 (GRCm39)	missense	probably benign
R1937:Arhgap10	UTSW	8	78,071,282 (GRCm39)	missense	probably damaging	1.00
R1959:Arhgap10	UTSW	8	78,136,255 (GRCm39)	missense	possibly damaging	0.78
R2348:Arhgap10	UTSW	8	78,177,555 (GRCm39)	splice site	probably benign
R3703:Arhgap10	UTSW	8	77,985,685 (GRCm39)	critical splice donor site	probably null
R3979:Arhgap10	UTSW	8	78,147,354 (GRCm39)	missense	probably benign	0.01
R4854:Arhgap10	UTSW	8	78,146,718 (GRCm39)	nonsense	probably null
R4855:Arhgap10	UTSW	8	78,159,367 (GRCm39)	critical splice donor site	probably null
R4928:Arhgap10	UTSW	8	78,152,957 (GRCm39)	critical splice donor site	probably null
R5033:Arhgap10	UTSW	8	78,109,386 (GRCm39)	missense	probably damaging	0.99
R5532:Arhgap10	UTSW	8	78,146,701 (GRCm39)	missense	probably benign	0.19
R5644:Arhgap10	UTSW	8	78,137,684 (GRCm39)	missense	probably benign	0.00
R5781:Arhgap10	UTSW	8	78,177,336 (GRCm39)	missense	possibly damaging	0.56
R5824:Arhgap10	UTSW	8	78,085,181 (GRCm39)	nonsense	probably null
R5861:Arhgap10	UTSW	8	78,037,393 (GRCm39)	missense	probably damaging	1.00
R5872:Arhgap10	UTSW	8	78,071,267 (GRCm39)	critical splice donor site	probably null
R6360:Arhgap10	UTSW	8	77,985,831 (GRCm39)	nonsense	probably null
R6423:Arhgap10	UTSW	8	78,244,386 (GRCm39)	missense	probably damaging	1.00
R6694:Arhgap10	UTSW	8	78,137,692 (GRCm39)	missense	probably benign	0.00
R6900:Arhgap10	UTSW	8	78,037,491 (GRCm39)	missense	probably damaging	1.00
R6936:Arhgap10	UTSW	8	78,037,376 (GRCm39)	nonsense	probably null
R7001:Arhgap10	UTSW	8	78,091,717 (GRCm39)	missense	possibly damaging	0.51
R7150:Arhgap10	UTSW	8	77,977,583 (GRCm39)	missense	probably damaging	1.00
R7461:Arhgap10	UTSW	8	78,115,326 (GRCm39)	missense	probably damaging	0.99
R7525:Arhgap10	UTSW	8	78,146,699 (GRCm39)	critical splice donor site	probably null
R8051:Arhgap10	UTSW	8	78,244,309 (GRCm39)	missense	probably damaging	0.97
R8081:Arhgap10	UTSW	8	78,109,375 (GRCm39)	missense	possibly damaging	0.68
R8175:Arhgap10	UTSW	8	78,037,471 (GRCm39)	missense	probably benign	0.03
R8262:Arhgap10	UTSW	8	78,037,468 (GRCm39)	missense	probably benign
R8702:Arhgap10	UTSW	8	77,985,732 (GRCm39)	missense	probably benign
R8778:Arhgap10	UTSW	8	78,140,240 (GRCm39)	missense	probably damaging	1.00
R9015:Arhgap10	UTSW	8	77,985,687 (GRCm39)	missense	probably benign
R9113:Arhgap10	UTSW	8	77,985,701 (GRCm39)	missense	probably damaging	1.00
R9275:Arhgap10	UTSW	8	78,137,665 (GRCm39)	missense	probably damaging	1.00
R9457:Arhgap10	UTSW	8	78,111,415 (GRCm39)	missense	probably benign	0.43
R9623:Arhgap10	UTSW	8	77,985,786 (GRCm39)	missense	probably benign
Z1176:Arhgap10	UTSW	8	78,159,434 (GRCm39)	missense	probably damaging	0.97
Z1176:Arhgap10	UTSW	8	78,003,804 (GRCm39)	missense	probably benign	0.01

Posted On

2014-02-04