Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02411:Arhgef10'

292314

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef10

Ensembl Gene

ENSMUSG00000071176

Gene Name

Rho guanine nucleotide exchange factor 10

Synonyms

6430549H08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02411

Quality Score

Status

Chromosome

Chromosomal Location

14961663-15051085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15004819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 445 (Y445F)

Ref Sequence

ENSEMBL: ENSMUSP00000081225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084207] [ENSMUST00000110800] [ENSMUST00000161162] [ENSMUST00000163062]

AlphaFold

Q8C033

Predicted Effect

probably benign
Transcript: ENSMUST00000084207
AA Change: Y445F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: Y445F

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	236	245	N/A	INTRINSIC
low complexity region	247	265	N/A	INTRINSIC
coiled coil region	308	335	N/A	INTRINSIC
RhoGEF	401	583	9.79e-58	SMART
Blast:PH	617	829	6e-47	BLAST
low complexity region	1256	1272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110800
AA Change: Y406F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: Y406F

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	236	245	N/A	INTRINSIC
low complexity region	247	265	N/A	INTRINSIC
low complexity region	280	291	N/A	INTRINSIC
RhoGEF	362	544	9.79e-58	SMART
Blast:PH	578	790	8e-47	BLAST
low complexity region	1217	1233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161162
AA Change: Y444F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176
AA Change: Y444F

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	235	244	N/A	INTRINSIC
low complexity region	246	264	N/A	INTRINSIC
coiled coil region	307	334	N/A	INTRINSIC
RhoGEF	400	579	2.2e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163062
AA Change: Y117F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000125526
Gene: ENSMUSG00000071176
AA Change: Y117F

Domain	Start	End	E-Value	Type
RhoGEF	73	255	9.79e-58	SMART
Blast:PH	289	501	2e-47	BLAST
low complexity region	899	915	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,459 (GRCm39)	E65G	probably benign	Het
Abcc8	G	A	7: 45,756,431 (GRCm39)	R1425C	probably damaging	Het
Adcy3	A	T	12: 4,259,407 (GRCm39)		probably null	Het
AI661453	T	G	17: 47,778,263 (GRCm39)		probably benign	Het
Atrx	G	T	X: 104,874,587 (GRCm39)	S1924R	possibly damaging	Het
Clca3a1	T	C	3: 144,733,763 (GRCm39)	T58A	possibly damaging	Het
Clec1b	A	G	6: 129,378,804 (GRCm39)	Y97C	probably damaging	Het
Cobll1	A	G	2: 64,928,084 (GRCm39)	S1080P	probably damaging	Het
Crb1	C	A	1: 139,176,213 (GRCm39)	C529F	probably damaging	Het
Crim1	C	T	17: 78,642,763 (GRCm39)	R494*	probably null	Het
Cyp3a25	A	T	5: 145,938,257 (GRCm39)		probably benign	Het
Dntt	T	A	19: 41,041,424 (GRCm39)		probably null	Het
Gjb1	T	C	X: 100,428,611 (GRCm39)	C280R	probably damaging	Het
Glp1r	T	A	17: 31,143,485 (GRCm39)	C174S	probably damaging	Het
Gm5414	A	T	15: 101,536,269 (GRCm39)	Y119N	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Gm9796	G	T	11: 95,588,756 (GRCm39)		noncoding transcript	Het
Gm9956	T	C	10: 56,621,388 (GRCm39)	F17L	unknown	Het
Il1rap	A	T	16: 26,529,366 (GRCm39)	D396V	probably damaging	Het
Impa1	T	C	3: 10,388,018 (GRCm39)	K135E	possibly damaging	Het
Iqub	G	A	6: 24,449,810 (GRCm39)	A685V	probably damaging	Het
Jade3	T	C	X: 20,379,063 (GRCm39)	V512A	probably benign	Het
Kif3a	C	A	11: 53,461,525 (GRCm39)	P57T	probably damaging	Het
Kndc1	G	T	7: 139,501,829 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Maged2	G	T	X: 149,592,755 (GRCm39)	D343E	probably benign	Het
Magi2	T	C	5: 19,883,707 (GRCm39)	S120P	probably damaging	Het
Nxph3	A	T	11: 95,401,656 (GRCm39)	*253R	probably null	Het
Oog2	A	T	4: 143,921,618 (GRCm39)	H194L	probably damaging	Het
Pcbd2	T	G	13: 55,880,764 (GRCm39)	W7G	probably benign	Het
Pcdhb14	T	G	18: 37,582,823 (GRCm39)	L643R	possibly damaging	Het
Plch1	G	T	3: 63,605,177 (GRCm39)		probably null	Het
Poln	G	T	5: 34,270,666 (GRCm39)	S455*	probably null	Het
Ppp2r1a	T	C	17: 21,171,596 (GRCm39)		probably benign	Het
Rsu1	T	G	2: 13,082,308 (GRCm39)		probably benign	Het
Serpina10	A	T	12: 103,583,202 (GRCm39)	M360K	possibly damaging	Het
Sox30	A	T	11: 45,871,951 (GRCm39)	K269*	probably null	Het
Thbs1	T	C	2: 117,945,451 (GRCm39)	V310A	probably benign	Het
Tie1	C	A	4: 118,343,760 (GRCm39)	E61*	probably null	Het
Tm2d1	G	T	4: 98,268,911 (GRCm39)	P62Q	probably damaging	Het
Tpp1	G	T	7: 105,398,826 (GRCm39)	P201Q	probably damaging	Het
Trim13	A	G	14: 61,842,598 (GRCm39)	E205G	probably damaging	Het

Other mutations in Arhgef10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Arhgef10	APN	8	15,025,006 (GRCm39)	missense	probably damaging	1.00
IGL00823:Arhgef10	APN	8	14,990,378 (GRCm39)	unclassified	probably benign
IGL01012:Arhgef10	APN	8	15,029,977 (GRCm39)	missense	probably damaging	0.99
IGL01311:Arhgef10	APN	8	15,041,054 (GRCm39)	splice site	probably null
IGL01596:Arhgef10	APN	8	15,049,468 (GRCm39)	nonsense	probably null
IGL01888:Arhgef10	APN	8	15,012,577 (GRCm39)	nonsense	probably null
IGL01938:Arhgef10	APN	8	15,041,062 (GRCm39)	missense	probably benign	0.09
IGL02151:Arhgef10	APN	8	14,978,889 (GRCm39)	missense	possibly damaging	0.77
IGL02274:Arhgef10	APN	8	14,997,205 (GRCm39)	missense	probably damaging	0.99
IGL02369:Arhgef10	APN	8	15,047,551 (GRCm39)	missense	probably damaging	1.00
IGL02500:Arhgef10	APN	8	15,011,238 (GRCm39)	missense	probably damaging	1.00
IGL02597:Arhgef10	APN	8	14,980,198 (GRCm39)	missense	probably benign	0.27
IGL02602:Arhgef10	APN	8	14,980,198 (GRCm39)	missense	probably benign	0.27
IGL02743:Arhgef10	APN	8	14,980,198 (GRCm39)	missense	probably benign	0.27
IGL02744:Arhgef10	APN	8	14,980,198 (GRCm39)	missense	probably benign	0.27
IGL03113:Arhgef10	APN	8	15,004,505 (GRCm39)	missense	probably damaging	1.00
IGL03248:Arhgef10	APN	8	14,978,847 (GRCm39)	missense	probably benign	0.00
P0028:Arhgef10	UTSW	8	14,978,925 (GRCm39)	missense	possibly damaging	0.79
P4748:Arhgef10	UTSW	8	14,978,925 (GRCm39)	missense	possibly damaging	0.79
R0049:Arhgef10	UTSW	8	15,004,446 (GRCm39)	missense	probably damaging	1.00
R0197:Arhgef10	UTSW	8	15,012,636 (GRCm39)	missense	probably damaging	1.00
R0479:Arhgef10	UTSW	8	15,041,070 (GRCm39)	missense	probably damaging	0.98
R0701:Arhgef10	UTSW	8	15,012,636 (GRCm39)	missense	probably damaging	1.00
R0966:Arhgef10	UTSW	8	14,990,343 (GRCm39)	missense	probably benign	0.01
R1367:Arhgef10	UTSW	8	14,990,225 (GRCm39)	missense	probably damaging	1.00
R1572:Arhgef10	UTSW	8	15,041,211 (GRCm39)	missense	possibly damaging	0.53
R1631:Arhgef10	UTSW	8	14,997,157 (GRCm39)	missense	probably damaging	0.98
R1766:Arhgef10	UTSW	8	15,029,836 (GRCm39)	missense	probably damaging	1.00
R1920:Arhgef10	UTSW	8	15,006,987 (GRCm39)	splice site	probably benign
R2051:Arhgef10	UTSW	8	14,995,320 (GRCm39)	missense	probably null	1.00
R2088:Arhgef10	UTSW	8	15,033,898 (GRCm39)	missense	possibly damaging	0.46
R2118:Arhgef10	UTSW	8	14,984,820 (GRCm39)	missense	probably damaging	0.99
R2120:Arhgef10	UTSW	8	14,984,820 (GRCm39)	missense	probably damaging	0.99
R2121:Arhgef10	UTSW	8	14,984,820 (GRCm39)	missense	probably damaging	0.99
R2122:Arhgef10	UTSW	8	14,984,820 (GRCm39)	missense	probably damaging	0.99
R2124:Arhgef10	UTSW	8	14,984,820 (GRCm39)	missense	probably damaging	0.99
R2318:Arhgef10	UTSW	8	14,978,855 (GRCm39)	missense	probably damaging	1.00
R2870:Arhgef10	UTSW	8	15,025,666 (GRCm39)	missense	probably benign	0.01
R2870:Arhgef10	UTSW	8	15,025,666 (GRCm39)	missense	probably benign	0.01
R2870:Arhgef10	UTSW	8	15,025,093 (GRCm39)	critical splice donor site	probably null
R2870:Arhgef10	UTSW	8	15,025,093 (GRCm39)	critical splice donor site	probably null
R2872:Arhgef10	UTSW	8	15,025,666 (GRCm39)	missense	probably benign	0.01
R2872:Arhgef10	UTSW	8	15,025,666 (GRCm39)	missense	probably benign	0.01
R2872:Arhgef10	UTSW	8	15,025,093 (GRCm39)	critical splice donor site	probably null
R2872:Arhgef10	UTSW	8	15,025,093 (GRCm39)	critical splice donor site	probably null
R2874:Arhgef10	UTSW	8	15,025,666 (GRCm39)	missense	probably benign	0.01
R2874:Arhgef10	UTSW	8	15,025,093 (GRCm39)	critical splice donor site	probably null
R3522:Arhgef10	UTSW	8	15,004,918 (GRCm39)	missense	probably damaging	1.00
R4049:Arhgef10	UTSW	8	15,029,998 (GRCm39)	missense	probably benign	0.05
R4324:Arhgef10	UTSW	8	14,990,335 (GRCm39)	missense	possibly damaging	0.77
R4351:Arhgef10	UTSW	8	15,041,145 (GRCm39)	nonsense	probably null
R4384:Arhgef10	UTSW	8	14,980,157 (GRCm39)	nonsense	probably null
R4385:Arhgef10	UTSW	8	14,980,157 (GRCm39)	nonsense	probably null
R4685:Arhgef10	UTSW	8	15,006,963 (GRCm39)	missense	probably damaging	1.00
R5111:Arhgef10	UTSW	8	14,982,408 (GRCm39)	missense	probably benign	0.00
R5169:Arhgef10	UTSW	8	14,980,051 (GRCm39)	missense	possibly damaging	0.80
R5670:Arhgef10	UTSW	8	15,004,774 (GRCm39)	missense	probably benign	0.01
R5945:Arhgef10	UTSW	8	15,030,028 (GRCm39)	critical splice donor site	probably null
R6593:Arhgef10	UTSW	8	15,012,564 (GRCm39)	missense	possibly damaging	0.82
R6593:Arhgef10	UTSW	8	15,012,522 (GRCm39)	missense	probably damaging	1.00
R6734:Arhgef10	UTSW	8	15,025,053 (GRCm39)	missense	probably damaging	1.00
R6859:Arhgef10	UTSW	8	15,025,005 (GRCm39)	missense	probably damaging	1.00
R6890:Arhgef10	UTSW	8	14,978,786 (GRCm39)	missense	probably benign	0.27
R7068:Arhgef10	UTSW	8	15,008,639 (GRCm39)	missense	probably damaging	1.00
R7081:Arhgef10	UTSW	8	15,047,547 (GRCm39)	nonsense	probably null
R7157:Arhgef10	UTSW	8	14,980,030 (GRCm39)	missense	probably damaging	1.00
R7232:Arhgef10	UTSW	8	14,990,323 (GRCm39)	missense	probably benign	0.10
R7514:Arhgef10	UTSW	8	15,025,956 (GRCm39)	missense	probably benign	0.16
R7544:Arhgef10	UTSW	8	15,029,854 (GRCm39)	missense	probably benign	0.34
R7657:Arhgef10	UTSW	8	15,029,893 (GRCm39)	missense	probably damaging	1.00
R7736:Arhgef10	UTSW	8	15,030,583 (GRCm39)	nonsense	probably null
R7777:Arhgef10	UTSW	8	14,995,373 (GRCm39)	missense	probably damaging	1.00
R8000:Arhgef10	UTSW	8	14,980,054 (GRCm39)	missense	probably damaging	1.00
R8060:Arhgef10	UTSW	8	15,004,446 (GRCm39)	missense	probably damaging	1.00
R8441:Arhgef10	UTSW	8	15,041,237 (GRCm39)	splice site	probably benign
R8545:Arhgef10	UTSW	8	15,025,931 (GRCm39)	missense	possibly damaging	0.83
R8545:Arhgef10	UTSW	8	14,978,868 (GRCm39)	missense	probably benign	0.00
R8702:Arhgef10	UTSW	8	14,992,638 (GRCm39)	missense	probably benign
R8846:Arhgef10	UTSW	8	15,025,956 (GRCm39)	missense	probably benign	0.16
R8854:Arhgef10	UTSW	8	15,029,798 (GRCm39)	critical splice acceptor site	probably null
R9076:Arhgef10	UTSW	8	15,024,993 (GRCm39)	missense	probably damaging	1.00
R9384:Arhgef10	UTSW	8	15,041,067 (GRCm39)	missense	probably damaging	0.99
R9479:Arhgef10	UTSW	8	15,047,632 (GRCm39)	missense	probably damaging	1.00
R9799:Arhgef10	UTSW	8	14,990,268 (GRCm39)	missense	probably damaging	0.99
X0024:Arhgef10	UTSW	8	15,028,486 (GRCm39)	missense	probably benign	0.01
X0027:Arhgef10	UTSW	8	15,047,631 (GRCm39)	missense	possibly damaging	0.92
Z1088:Arhgef10	UTSW	8	15,014,191 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16