Mutagenetix > Incidental Mutation

Incidental Mutation 'R7777:Arhgef10'

598958

Institutional Source

Beutler Lab

Gene Symbol

Arhgef10

Ensembl Gene

ENSMUSG00000071176

Gene Name

Rho guanine nucleotide exchange factor 10

Synonyms

6430549H08Rik

MMRRC Submission

045833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7777 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14961663-15051085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14995373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 353 (T353A)

Ref Sequence

ENSEMBL: ENSMUSP00000081225 (fasta)

Gene Model

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

AlphaFold

Q8C033

Predicted Effect

probably damaging
Transcript: ENSMUST00000084207
AA Change: T353A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: T353A

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

possibly damaging
Transcript: ENSMUST00000110800
AA Change: T314A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: T314A

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

possibly damaging
Transcript: ENSMUST00000161162
AA Change: T352A

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176
AA Change: T352A

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 damaging
Transcript: ENSMUST00000163062
AA Change: T25A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125526
Gene: ENSMUSG00000071176
AA Change: T25A

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,758 (GRCm39)	P192S	possibly damaging	Het
Cabyr	A	G	18: 12,877,828 (GRCm39)	D55G	probably damaging	Het
Dcaf4	T	C	12: 83,584,733 (GRCm39)	V322A	probably damaging	Het
Ephb2	T	A	4: 136,498,947 (GRCm39)	E44V	possibly damaging	Het
Fam3c	T	C	6: 22,328,573 (GRCm39)	I105V	probably benign	Het
Fras1	A	G	5: 96,900,763 (GRCm39)	D2994G	probably damaging	Het
Fryl	C	T	5: 73,228,641 (GRCm39)	D1697N	probably damaging	Het
Gapdh	A	T	6: 125,139,911 (GRCm39)	Y164*	probably null	Het
Gm4353	T	G	7: 115,682,998 (GRCm39)	Q194H	possibly damaging	Het
Ilvbl	T	A	10: 78,413,085 (GRCm39)		probably null	Het
Ism2	T	A	12: 87,333,658 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,254,268 (GRCm39)	T196I	probably benign	Het
Lcor	T	G	19: 41,547,234 (GRCm39)	Y273D	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lysmd4	T	A	7: 66,873,446 (GRCm39)	M27K	possibly damaging	Het
Muc17	G	A	5: 137,175,564 (GRCm39)		silent	Het
Or11h4b	A	T	14: 50,918,261 (GRCm39)	Y277N	probably damaging	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or5m10	A	G	2: 85,717,951 (GRCm39)	E269G	possibly damaging	Het
Oscp1	T	C	4: 125,958,774 (GRCm39)		probably null	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd2l2	C	A	18: 34,549,913 (GRCm39)	P186Q	probably damaging	Het
Plcb1	G	A	2: 135,062,677 (GRCm39)	G96R	possibly damaging	Het
Plcd3	G	C	11: 102,965,481 (GRCm39)	R535G	probably benign	Het
Plcg1	A	G	2: 160,596,523 (GRCm39)	M681V	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Polrmt	A	T	10: 79,575,022 (GRCm39)	D836E	probably benign	Het
Pramel12	T	C	4: 143,144,331 (GRCm39)	Y226H	possibly damaging	Het
Prkag1	A	T	15: 98,712,478 (GRCm39)	I149N	probably damaging	Het
Prkci	A	T	3: 31,104,362 (GRCm39)	Q575L	possibly damaging	Het
Prss40	C	T	1: 34,591,846 (GRCm39)	W276*	probably null	Het
Ptprn	T	C	1: 75,228,946 (GRCm39)	D823G	possibly damaging	Het
Radil	A	C	5: 142,529,303 (GRCm39)	F131C	probably damaging	Het
Rif1	A	G	2: 52,006,368 (GRCm39)	I550V	probably benign	Het
Rmnd1	T	C	10: 4,361,713 (GRCm39)	E320G	probably damaging	Het
Sec31b	T	A	19: 44,512,212 (GRCm39)	K561*	probably null	Het
Spata31g1	C	T	4: 42,970,171 (GRCm39)	Q53*	probably null	Het
Spata31g1	T	C	4: 42,971,095 (GRCm39)	S143P	probably benign	Het
Tbx5	A	C	5: 120,021,232 (GRCm39)	T413P	probably benign	Het
Tmprss7	A	G	16: 45,480,963 (GRCm39)		probably null	Het
Tnfaip8l2	T	C	3: 95,047,307 (GRCm39)	*185W	probably null	Het
Tpst2	A	G	5: 112,457,560 (GRCm39)	E296G	possibly damaging	Het
Ubn2	T	A	6: 38,467,688 (GRCm39)	S801T	probably damaging	Het
Usp34	A	G	11: 23,332,638 (GRCm39)	S1141G		Het
Uts2r	A	G	11: 121,052,279 (GRCm39)	N381S	probably benign	Het
Vmn2r44	G	T	7: 8,381,314 (GRCm39)	T193K	possibly damaging	Het
Wdr18	T	A	10: 79,801,884 (GRCm39)	M223K	probably benign	Het
Wdr64	T	C	1: 175,617,564 (GRCm39)	C715R	possibly damaging	Het
Zfp672	A	G	11: 58,208,081 (GRCm39)	F80S	possibly 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
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
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'- GCAAAGCTCATTCCAGGTAATG -3'
(R):5'- ATCCTTCATTATGGAGGGGCG -3'

Sequencing Primer
(F):5'- TTCCAGGTAATGTCTAGACCCAG -3'
(R):5'- GGGCCCAGGTCAGCTGAG -3'

Posted On

2019-11-26