Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Arhgef10l'

500780

Institutional Source

Beutler Lab

Gene Symbol

Arhgef10l

Ensembl Gene

ENSMUSG00000040964

Gene Name

Rho guanine nucleotide exchange factor (GEF) 10-like

Synonyms

2810441C07Rik

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R3732 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

140514485-140666012 bp(-) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

AGAGGAGGAGGAGGAGGA to AGAGGAGGAGGAGGA at 140581619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799] [ENSMUST00000147426]

AlphaFold

A2AWP8

Predicted Effect

probably benign
Transcript: ENSMUST00000039204

SMART Domains

Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
low complexity region	28	49	N/A	INTRINSIC
low complexity region	78	89	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
low complexity region	170	184	N/A	INTRINSIC
RhoGEF	318	500	1.95e-52	SMART
Blast:PH	535	748	3e-82	BLAST
low complexity region	821	833	N/A	INTRINSIC
low complexity region	864	876	N/A	INTRINSIC
Blast:WD40	1217	1270	8e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000069623

SMART Domains

Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
low complexity region	28	49	N/A	INTRINSIC
low complexity region	78	89	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
low complexity region	170	184	N/A	INTRINSIC
RhoGEF	279	461	1.95e-52	SMART
Blast:PH	496	714	5e-80	BLAST
low complexity region	787	799	N/A	INTRINSIC
low complexity region	830	842	N/A	INTRINSIC
Blast:WD40	1183	1236	7e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000097820

SMART Domains

Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
low complexity region	28	49	N/A	INTRINSIC
low complexity region	78	89	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
low complexity region	170	184	N/A	INTRINSIC
RhoGEF	279	461	1.95e-52	SMART
Blast:PH	496	709	3e-82	BLAST
low complexity region	782	794	N/A	INTRINSIC
low complexity region	825	837	N/A	INTRINSIC
Blast:WD40	1178	1231	6e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105797

SMART Domains

Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
Pfam:RhoGEF	101	183	7.1e-15	PFAM
low complexity region	195	213	N/A	INTRINSIC
Blast:PH	248	461	7e-83	BLAST
low complexity region	534	546	N/A	INTRINSIC
low complexity region	577	589	N/A	INTRINSIC
Blast:WD40	618	656	6e-15	BLAST
Blast:WD40	930	983	1e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105798

SMART Domains

Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
RhoGEF	78	260	1.95e-52	SMART
Blast:PH	295	513	8e-81	BLAST
low complexity region	586	598	N/A	INTRINSIC
low complexity region	629	641	N/A	INTRINSIC
Blast:WD40	982	1035	6e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105799

SMART Domains

Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
low complexity region	28	49	N/A	INTRINSIC
low complexity region	78	89	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
low complexity region	170	184	N/A	INTRINSIC
RhoGEF	318	500	1.95e-52	SMART
Blast:PH	535	753	5e-80	BLAST
low complexity region	826	838	N/A	INTRINSIC
low complexity region	869	881	N/A	INTRINSIC
Blast:WD40	1222	1275	8e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125045

Predicted Effect

probably benign
Transcript: ENSMUST00000138493

SMART Domains

Protein: ENSMUSP00000119471
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	1	46	3.1e-11	PFAM
Blast:PH	81	294	3e-86	BLAST
low complexity region	367	379	N/A	INTRINSIC
Blast:WD40	387	446	8e-6	BLAST
Blast:WD40	451	489	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000147426

SMART Domains

Protein: ENSMUSP00000123642
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
RhoGEF	101	262	5.44e-33	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	Het

Other mutations in Arhgef10l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Arhgef10l	APN	4	140570338	missense	probably damaging	0.98
IGL01732:Arhgef10l	APN	4	140580415	missense	probably damaging	0.99
IGL01988:Arhgef10l	APN	4	140578361	splice site	probably benign
IGL02031:Arhgef10l	APN	4	140575345	missense	probably damaging	1.00
IGL02253:Arhgef10l	APN	4	140544284	nonsense	probably null
IGL02445:Arhgef10l	APN	4	140547007	missense	probably benign	0.19
IGL02619:Arhgef10l	APN	4	140594193	missense	probably benign	0.07
IGL02798:Arhgef10l	APN	4	140565130	critical splice donor site	probably null
IGL03064:Arhgef10l	APN	4	140579279	missense	probably damaging	1.00
IGL03178:Arhgef10l	APN	4	140544428	missense	possibly damaging	0.92
IGL03236:Arhgef10l	APN	4	140611360	missense	probably damaging	1.00
IGL03352:Arhgef10l	APN	4	140583931	start codon destroyed	probably null	0.99
PIT4494001:Arhgef10l	UTSW	4	140565211	missense	probably damaging	0.98
R0057:Arhgef10l	UTSW	4	140611218	splice site	probably benign
R0062:Arhgef10l	UTSW	4	140552532	missense	probably damaging	1.00
R0109:Arhgef10l	UTSW	4	140578294	missense	probably benign	0.02
R0109:Arhgef10l	UTSW	4	140578294	missense	probably benign	0.02
R0114:Arhgef10l	UTSW	4	140583883	missense	probably benign	0.17
R0334:Arhgef10l	UTSW	4	140583926	nonsense	probably null
R0742:Arhgef10l	UTSW	4	140536845	missense	probably damaging	1.00
R1017:Arhgef10l	UTSW	4	140515306	missense	probably damaging	0.99
R1166:Arhgef10l	UTSW	4	140575270	unclassified	probably benign
R1397:Arhgef10l	UTSW	4	140544443	missense	probably damaging	0.98
R1521:Arhgef10l	UTSW	4	140515438	missense	possibly damaging	0.95
R1707:Arhgef10l	UTSW	4	140564289	missense	probably damaging	1.00
R1793:Arhgef10l	UTSW	4	140515373	missense	probably damaging	0.97
R2018:Arhgef10l	UTSW	4	140544384	missense	probably damaging	1.00
R2093:Arhgef10l	UTSW	4	140570290	missense	possibly damaging	0.57
R2098:Arhgef10l	UTSW	4	140579432	missense	probably damaging	1.00
R2310:Arhgef10l	UTSW	4	140593118	missense	probably damaging	1.00
R2879:Arhgef10l	UTSW	4	140515287	missense	probably benign	0.09
R2883:Arhgef10l	UTSW	4	140516802	missense	probably benign	0.02
R3732:Arhgef10l	UTSW	4	140581619	small deletion	probably benign
R3861:Arhgef10l	UTSW	4	140515487	missense	possibly damaging	0.94
R4049:Arhgef10l	UTSW	4	140515451	missense	probably benign	0.05
R4322:Arhgef10l	UTSW	4	140542726	missense	probably benign	0.07
R4707:Arhgef10l	UTSW	4	140536883	missense	possibly damaging	0.63
R5395:Arhgef10l	UTSW	4	140570290	missense	probably benign	0.16
R5720:Arhgef10l	UTSW	4	140581619	small deletion	probably benign
R6066:Arhgef10l	UTSW	4	140577080	missense	probably damaging	1.00
R6190:Arhgef10l	UTSW	4	140542762	missense	possibly damaging	0.90
R6464:Arhgef10l	UTSW	4	140586815	missense	probably benign	0.05
R6476:Arhgef10l	UTSW	4	140611382	missense	probably damaging	1.00
R6478:Arhgef10l	UTSW	4	140542757	missense	possibly damaging	0.91
R6483:Arhgef10l	UTSW	4	140616915	missense	probably damaging	0.99
R6631:Arhgef10l	UTSW	4	140517747	intron	probably benign
R6721:Arhgef10l	UTSW	4	140570344	missense	probably damaging	1.00
R6890:Arhgef10l	UTSW	4	140544419	missense	probably damaging	1.00
R7098:Arhgef10l	UTSW	4	140580911	missense	probably benign	0.01
R7100:Arhgef10l	UTSW	4	140516815	missense	possibly damaging	0.60
R7117:Arhgef10l	UTSW	4	140564186	critical splice donor site	probably null
R7195:Arhgef10l	UTSW	4	140611410	missense	probably benign
R7222:Arhgef10l	UTSW	4	140521269	missense	probably damaging	1.00
R7397:Arhgef10l	UTSW	4	140562804	missense	probably damaging	1.00
R7776:Arhgef10l	UTSW	4	140575331	missense	probably damaging	1.00
R7801:Arhgef10l	UTSW	4	140544267	missense	probably benign	0.00
R7811:Arhgef10l	UTSW	4	140515024	missense	possibly damaging	0.63
R7832:Arhgef10l	UTSW	4	140578305	missense	possibly damaging	0.90
R7849:Arhgef10l	UTSW	4	140583934	critical splice acceptor site	probably null
R7963:Arhgef10l	UTSW	4	140579425	missense	probably damaging	1.00
R8434:Arhgef10l	UTSW	4	140564271	missense	possibly damaging	0.89
R8943:Arhgef10l	UTSW	4	140565239	missense	probably damaging	0.99
R9004:Arhgef10l	UTSW	4	140552610	missense	probably damaging	0.98
R9006:Arhgef10l	UTSW	4	140544348	missense	probably benign	0.04
R9033:Arhgef10l	UTSW	4	140594152	missense	probably damaging	0.99
R9302:Arhgef10l	UTSW	4	140515237	missense	probably benign	0.04
R9337:Arhgef10l	UTSW	4	140611313	missense	probably damaging	1.00
R9375:Arhgef10l	UTSW	4	140591954	missense	probably benign
R9454:Arhgef10l	UTSW	4	140580925	nonsense	probably null
Z1088:Arhgef10l	UTSW	4	140581735	missense	possibly damaging	0.53
Z1177:Arhgef10l	UTSW	4	140516772	missense	probably benign	0.28

Predicted Primers

Posted On

2017-12-01