Mutagenetix > Incidental Mutation

Incidental Mutation 'R6859:Arhgef10'

537810

Institutional Source

Beutler Lab

Gene Symbol

Arhgef10

Ensembl Gene

ENSMUSG00000071176

Gene Name

Rho guanine nucleotide exchange factor 10

Synonyms

6430549H08Rik

MMRRC Submission

044961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14961663-15051085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15025005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 398 (Y398N)

Ref Sequence

ENSEMBL: ENSMUSP00000125526 (fasta)

Gene Model

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

AlphaFold

Q8C033

Predicted Effect

probably damaging
Transcript: ENSMUST00000084207
AA Change: Y726N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: Y726N

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 damaging
Transcript: ENSMUST00000110800
AA Change: Y687N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: Y687N

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 damaging
Transcript: ENSMUST00000163062
AA Change: Y398N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125526
Gene: ENSMUSG00000071176
AA Change: Y398N

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

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
4930562C15Rik	T	C	16: 4,669,799 (GRCm39)	V788A	possibly damaging	Het
Abca15	A	T	7: 120,002,217 (GRCm39)	K1577*	probably null	Het
Arhgap12	T	C	18: 6,111,803 (GRCm39)	E187G	probably damaging	Het
Baz2b	C	T	2: 59,731,874 (GRCm39)	V2055I	probably benign	Het
Btnl4	T	C	17: 34,688,353 (GRCm39)	D475G	probably damaging	Het
C1qtnf12	T	A	4: 156,050,070 (GRCm39)	F190Y	probably damaging	Het
Cacul1	A	G	19: 60,522,683 (GRCm39)	S284P	probably damaging	Het
Ccdc166	C	A	15: 75,853,820 (GRCm39)	V87L	possibly damaging	Het
Ceacam13	C	T	7: 17,747,032 (GRCm39)	P162S	probably damaging	Het
Cep250	T	A	2: 155,834,446 (GRCm39)	S2124T	probably benign	Het
Chd5	T	C	4: 152,462,664 (GRCm39)	S1372P	probably damaging	Het
Chil3	C	A	3: 106,067,730 (GRCm39)	R145L	probably benign	Het
Cyp4f40	T	C	17: 32,894,923 (GRCm39)	S454P	probably benign	Het
Defa3	T	A	8: 21,778,213 (GRCm39)	C66S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Glmp	C	A	3: 88,235,349 (GRCm39)	N260K	probably benign	Het
Gsap	T	A	5: 21,486,016 (GRCm39)	L653Q	probably damaging	Het
Il18rap	T	A	1: 40,564,255 (GRCm39)	Y124*	probably null	Het
Lao1	A	C	4: 118,820,948 (GRCm39)	K58T	probably damaging	Het
Lepr	T	A	4: 101,622,487 (GRCm39)		probably null	Het
Mrgpra3	G	C	7: 47,239,781 (GRCm39)	I48M	probably benign	Het
Nck2	T	G	1: 43,593,511 (GRCm39)	N239K	probably benign	Het
Optc	A	T	1: 133,825,554 (GRCm39)	V324E	possibly damaging	Het
Or12k7	A	T	2: 36,958,794 (GRCm39)	Y159F	probably damaging	Het
Or4p8	A	G	2: 88,727,278 (GRCm39)	I221T	probably benign	Het
Or51b6	G	A	7: 103,555,908 (GRCm39)	W84*	probably null	Het
Otog	T	C	7: 45,923,205 (GRCm39)	S1027P	probably damaging	Het
Plbd2	A	G	5: 120,641,407 (GRCm39)	F84L	probably benign	Het
Plxnb1	T	C	9: 108,935,838 (GRCm39)	L110P	probably damaging	Het
Prnp	T	C	2: 131,778,708 (GRCm39)	V120A	possibly damaging	Het
Ptprh	C	A	7: 4,552,370 (GRCm39)	E965*	probably null	Het
Reln	T	C	5: 22,239,568 (GRCm39)	T900A	probably damaging	Het
Stt3a	A	G	9: 36,646,682 (GRCm39)	Y644H	probably damaging	Het
Sulf2	A	G	2: 165,929,039 (GRCm39)	Y311H	probably damaging	Het
Tbc1d32	A	T	10: 56,056,626 (GRCm39)	I438N	probably damaging	Het
Tbcd	T	C	11: 121,387,937 (GRCm39)	V356A	possibly damaging	Het
Tecta	T	C	9: 42,303,425 (GRCm39)	N69S	probably damaging	Het
Topaz1	T	C	9: 122,631,023 (GRCm39)	V1618A	probably benign	Het
Usp48	C	T	4: 137,352,587 (GRCm39)	T627I	possibly damaging	Het
Vcl	T	C	14: 21,037,143 (GRCm39)	V247A	probably damaging	Het
Vmn2r59	A	G	7: 41,693,277 (GRCm39)	L441P	probably damaging	Het
Zfp869	C	T	8: 70,159,175 (GRCm39)	G466D	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
IGL02411:Arhgef10	APN	8	15,004,819 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGGAGGGCATCATTCTATAC -3'
(R):5'- AACTCGGAGACAAAGCCATG -3'

Sequencing Primer
(F):5'- GGAACAACTCCCAAATGTCTG -3'
(R):5'- ATGCTCACAGGTCTGGAAGC -3'

Posted On

2018-10-18