Mutagenetix > Incidental Mutation

Incidental Mutation 'R7117:Arhgef10l'

551833

Institutional Source

Beutler Lab

Gene Symbol

Arhgef10l

Ensembl Gene

ENSMUSG00000040964

Gene Name

Rho guanine nucleotide exchange factor 10-like

Synonyms

2810441C07Rik

MMRRC Submission

045208-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140241796-140393318 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 140291497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799] [ENSMUST00000140403]

AlphaFold

A2AWP8

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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

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: ENSMUST00000140403

SMART Domains

Protein: ENSMUSP00000117038
Gene: ENSMUSG00000040964

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Blast:PH	16	127	3e-57	BLAST

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (95/98)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,339,250 (GRCm39)	Y254C	probably benign	Het
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adam12	T	C	7: 133,518,191 (GRCm39)	I650V	probably benign	Het
Adam39	G	T	8: 41,279,279 (GRCm39)	G557C	probably damaging	Het
Ak5	A	G	3: 152,321,493 (GRCm39)		probably null	Het
Arhgef37	C	T	18: 61,637,481 (GRCm39)	E394K	probably benign	Het
Baz2b	A	G	2: 59,742,841 (GRCm39)	V13A		Het
Bnc1	G	T	7: 81,623,109 (GRCm39)	A706E	possibly damaging	Het
Bscl2	G	A	19: 8,825,878 (GRCm39)	A421T	possibly damaging	Het
Btn1a1	A	C	13: 23,643,415 (GRCm39)	W345G	possibly damaging	Het
C3	A	T	17: 57,519,655 (GRCm39)	M1199K	probably benign	Het
Ccdc18	T	G	5: 108,296,835 (GRCm39)	L213V	possibly damaging	Het
Cers2	T	C	3: 95,228,072 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,316,711 (GRCm39)	H249L	probably damaging	Het
Cited2	A	G	10: 17,600,364 (GRCm39)	E224G	possibly damaging	Het
Cntn5	T	A	9: 10,904,704 (GRCm39)		probably benign	Het
Col28a1	A	G	6: 8,013,122 (GRCm39)	S977P	possibly damaging	Het
Col6a1	T	C	10: 76,560,843 (GRCm39)	K52E	probably damaging	Het
Cpne2	T	A	8: 95,282,172 (GRCm39)	H239Q	probably damaging	Het
Cr2	A	T	1: 194,842,909 (GRCm39)	N244K	possibly damaging	Het
Csf2rb2	T	C	15: 78,169,385 (GRCm39)	D590G	probably damaging	Het
Defb25	A	C	2: 152,464,380 (GRCm39)	C55G	probably damaging	Het
Dnah7b	A	T	1: 46,391,973 (GRCm39)		probably null	Het
Dvl3	T	A	16: 20,346,072 (GRCm39)	Y467*	probably null	Het
Elapor2	T	A	5: 9,495,384 (GRCm39)	C729*	probably null	Het
Extl2	T	C	3: 115,821,088 (GRCm39)	S312P	probably damaging	Het
Fam178b	T	C	1: 36,639,548 (GRCm39)	T313A	probably benign	Het
Fam186b	A	G	15: 99,183,471 (GRCm39)	Y58H	probably damaging	Het
Fat1	A	T	8: 45,484,505 (GRCm39)	I3248L	probably damaging	Het
Fat2	A	G	11: 55,172,088 (GRCm39)	F2875S	probably damaging	Het
Flnb	T	A	14: 7,894,214 (GRCm38)	N760K	probably benign	Het
Galnt14	T	C	17: 73,801,190 (GRCm39)	H544R	probably benign	Het
Gpr137c	A	C	14: 45,516,484 (GRCm39)	R357S	probably damaging	Het
Grk2	A	G	19: 4,340,630 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,577,055 (GRCm39)	T342S	probably benign	Het
Hjv	G	T	3: 96,435,542 (GRCm39)	V267L	possibly damaging	Het
Ildr2	G	T	1: 166,123,380 (GRCm39)	G270C	probably damaging	Het
Insm2	C	A	12: 55,647,357 (GRCm39)	A367D	probably damaging	Het
Kcnh5	T	A	12: 75,161,219 (GRCm39)	I230F	possibly damaging	Het
Keg1	T	A	19: 12,687,042 (GRCm39)	S24T	probably damaging	Het
Kera	A	T	10: 97,448,714 (GRCm39)	E311D	probably benign	Het
Kit	T	A	5: 75,767,758 (GRCm39)	I47K	probably benign	Het
Megf6	A	G	4: 154,343,379 (GRCm39)	T663A	possibly damaging	Het
Mettl21c	G	A	1: 44,049,808 (GRCm39)	A79V	probably damaging	Het
Mfsd1	T	A	3: 67,507,391 (GRCm39)		probably null	Het
Mob3b	A	G	4: 34,985,914 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,356,926 (GRCm39)	H282L	probably benign	Het
Mtpap	T	C	18: 4,380,889 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,536,621 (GRCm39)	V365A	possibly damaging	Het
Muc5ac	T	A	7: 141,367,559 (GRCm39)	Y2993*	probably null	Het
Mycbp2	A	C	14: 103,391,513 (GRCm39)	F3422V	probably benign	Het
Ndufb7	T	A	8: 84,297,490 (GRCm39)	D48E	probably benign	Het
Nxpe5	A	G	5: 138,237,704 (GRCm39)	Y88C	probably damaging	Het
Or51a6	T	A	7: 102,604,185 (GRCm39)	M208L	probably benign	Het
Or5d3	A	G	2: 88,174,905 (GRCm39)	L64P	probably damaging	Het
Osbpl5	T	A	7: 143,263,520 (GRCm39)	D121V	probably benign	Het
Oxnad1	A	T	14: 31,813,608 (GRCm39)	H3L	probably benign	Het
Pam	C	A	1: 97,904,841 (GRCm39)		probably benign	Het
Papolg	T	C	11: 23,845,207 (GRCm39)		probably benign	Het
Pax1	G	A	2: 147,208,190 (GRCm39)	G266D	probably damaging	Het
Pde11a	A	T	2: 75,906,348 (GRCm39)	M623K	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Phf21a	A	T	2: 92,189,502 (GRCm39)	Q587L	probably benign	Het
Plcb3	A	G	19: 6,941,746 (GRCm39)	L336P	probably damaging	Het
Pnp2	T	C	14: 51,201,931 (GRCm39)	*306Q	probably null	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pramel32	T	A	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Prmt3	G	T	7: 49,467,843 (GRCm39)	A350S	probably benign	Het
Rac3	A	T	11: 120,614,343 (GRCm39)	R163*	probably null	Het
Raly	G	T	2: 154,699,432 (GRCm39)	V79L	probably benign	Het
Rbm20	A	T	19: 53,839,989 (GRCm39)	T993S	possibly damaging	Het
Rwdd3	A	G	3: 120,964,987 (GRCm39)	L56P	probably benign	Het
Serpina3a	C	T	12: 104,082,436 (GRCm39)	H70Y	possibly damaging	Het
Sez6l2	A	C	7: 126,552,915 (GRCm39)	E227A	possibly damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Slc35f6	T	C	5: 30,815,051 (GRCm39)	L326P	probably damaging	Het
Sox2	G	A	3: 34,705,075 (GRCm39)	G171S	possibly damaging	Het
Spef2	G	A	15: 9,729,924 (GRCm39)	R65C	probably damaging	Het
Spmap2	A	T	10: 79,420,741 (GRCm39)		probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tada2a	T	A	11: 83,976,514 (GRCm39)	I327F	probably damaging	Het
Tex2	A	G	11: 106,435,071 (GRCm39)	V785A	unknown	Het
Thada	C	A	17: 84,538,214 (GRCm39)		probably null	Het
Tmed1	G	A	9: 21,420,550 (GRCm39)	T94M	possibly damaging	Het
Tsr1	G	T	11: 74,790,360 (GRCm39)	M149I	probably benign	Het
Ttc8	T	C	12: 98,942,761 (GRCm39)	Y434H	possibly damaging	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ttn	G	T	2: 76,552,253 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,773,235 (GRCm39)	I2435T	unknown	Het
Uggt2	T	C	14: 119,251,938 (GRCm39)	I1174M	probably benign	Het
Unc13b	T	C	4: 43,216,544 (GRCm39)	I281T	probably benign	Het
Usp1	G	T	4: 98,817,127 (GRCm39)	K106N	possibly damaging	Het
Vwa3b	A	G	1: 37,174,634 (GRCm39)	D15G		Het
Zfp28	G	A	7: 6,397,461 (GRCm39)	C632Y	probably damaging	Het
Zfp68	T	C	5: 138,604,580 (GRCm39)	D581G	probably benign	Het
Zmynd10	A	C	9: 107,424,716 (GRCm39)	S21R	probably benign	Het
Zswim4	C	T	8: 84,940,681 (GRCm39)	R806H	probably damaging	Het

Other mutations in Arhgef10l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Arhgef10l	APN	4	140,297,649 (GRCm39)	missense	probably damaging	0.98
IGL01732:Arhgef10l	APN	4	140,307,726 (GRCm39)	missense	probably damaging	0.99
IGL01988:Arhgef10l	APN	4	140,305,672 (GRCm39)	splice site	probably benign
IGL02031:Arhgef10l	APN	4	140,302,656 (GRCm39)	missense	probably damaging	1.00
IGL02253:Arhgef10l	APN	4	140,271,595 (GRCm39)	nonsense	probably null
IGL02445:Arhgef10l	APN	4	140,274,318 (GRCm39)	missense	probably benign	0.19
IGL02619:Arhgef10l	APN	4	140,321,504 (GRCm39)	missense	probably benign	0.07
IGL02798:Arhgef10l	APN	4	140,292,441 (GRCm39)	critical splice donor site	probably null
IGL03064:Arhgef10l	APN	4	140,306,590 (GRCm39)	missense	probably damaging	1.00
IGL03178:Arhgef10l	APN	4	140,271,739 (GRCm39)	missense	possibly damaging	0.92
IGL03236:Arhgef10l	APN	4	140,338,671 (GRCm39)	missense	probably damaging	1.00
IGL03352:Arhgef10l	APN	4	140,311,242 (GRCm39)	start codon destroyed	probably null	0.99
PIT4494001:Arhgef10l	UTSW	4	140,292,522 (GRCm39)	missense	probably damaging	0.98
R0057:Arhgef10l	UTSW	4	140,338,529 (GRCm39)	splice site	probably benign
R0062:Arhgef10l	UTSW	4	140,279,843 (GRCm39)	missense	probably damaging	1.00
R0109:Arhgef10l	UTSW	4	140,305,605 (GRCm39)	missense	probably benign	0.02
R0109:Arhgef10l	UTSW	4	140,305,605 (GRCm39)	missense	probably benign	0.02
R0114:Arhgef10l	UTSW	4	140,311,194 (GRCm39)	missense	probably benign	0.17
R0334:Arhgef10l	UTSW	4	140,311,237 (GRCm39)	nonsense	probably null
R0742:Arhgef10l	UTSW	4	140,264,156 (GRCm39)	missense	probably damaging	1.00
R1017:Arhgef10l	UTSW	4	140,242,617 (GRCm39)	missense	probably damaging	0.99
R1166:Arhgef10l	UTSW	4	140,302,581 (GRCm39)	unclassified	probably benign
R1397:Arhgef10l	UTSW	4	140,271,754 (GRCm39)	missense	probably damaging	0.98
R1521:Arhgef10l	UTSW	4	140,242,749 (GRCm39)	missense	possibly damaging	0.95
R1707:Arhgef10l	UTSW	4	140,291,600 (GRCm39)	missense	probably damaging	1.00
R1793:Arhgef10l	UTSW	4	140,242,684 (GRCm39)	missense	probably damaging	0.97
R2018:Arhgef10l	UTSW	4	140,271,695 (GRCm39)	missense	probably damaging	1.00
R2093:Arhgef10l	UTSW	4	140,297,601 (GRCm39)	missense	possibly damaging	0.57
R2098:Arhgef10l	UTSW	4	140,306,743 (GRCm39)	missense	probably damaging	1.00
R2310:Arhgef10l	UTSW	4	140,320,429 (GRCm39)	missense	probably damaging	1.00
R2879:Arhgef10l	UTSW	4	140,242,598 (GRCm39)	missense	probably benign	0.09
R2883:Arhgef10l	UTSW	4	140,244,113 (GRCm39)	missense	probably benign	0.02
R3732:Arhgef10l	UTSW	4	140,308,930 (GRCm39)	small deletion	probably benign
R3732:Arhgef10l	UTSW	4	140,308,930 (GRCm39)	small deletion	probably benign
R3861:Arhgef10l	UTSW	4	140,242,798 (GRCm39)	missense	possibly damaging	0.94
R4049:Arhgef10l	UTSW	4	140,242,762 (GRCm39)	missense	probably benign	0.05
R4322:Arhgef10l	UTSW	4	140,270,037 (GRCm39)	missense	probably benign	0.07
R4707:Arhgef10l	UTSW	4	140,264,194 (GRCm39)	missense	possibly damaging	0.63
R5395:Arhgef10l	UTSW	4	140,297,601 (GRCm39)	missense	probably benign	0.16
R5720:Arhgef10l	UTSW	4	140,308,930 (GRCm39)	small deletion	probably benign
R6066:Arhgef10l	UTSW	4	140,304,391 (GRCm39)	missense	probably damaging	1.00
R6190:Arhgef10l	UTSW	4	140,270,073 (GRCm39)	missense	possibly damaging	0.90
R6464:Arhgef10l	UTSW	4	140,314,126 (GRCm39)	missense	probably benign	0.05
R6476:Arhgef10l	UTSW	4	140,338,693 (GRCm39)	missense	probably damaging	1.00
R6478:Arhgef10l	UTSW	4	140,270,068 (GRCm39)	missense	possibly damaging	0.91
R6483:Arhgef10l	UTSW	4	140,344,226 (GRCm39)	missense	probably damaging	0.99
R6631:Arhgef10l	UTSW	4	140,245,058 (GRCm39)	intron	probably benign
R6721:Arhgef10l	UTSW	4	140,297,655 (GRCm39)	missense	probably damaging	1.00
R6890:Arhgef10l	UTSW	4	140,271,730 (GRCm39)	missense	probably damaging	1.00
R7098:Arhgef10l	UTSW	4	140,308,222 (GRCm39)	missense	probably benign	0.01
R7100:Arhgef10l	UTSW	4	140,244,126 (GRCm39)	missense	possibly damaging	0.60
R7195:Arhgef10l	UTSW	4	140,338,721 (GRCm39)	missense	probably benign
R7222:Arhgef10l	UTSW	4	140,248,580 (GRCm39)	missense	probably damaging	1.00
R7397:Arhgef10l	UTSW	4	140,290,115 (GRCm39)	missense	probably damaging	1.00
R7776:Arhgef10l	UTSW	4	140,302,642 (GRCm39)	missense	probably damaging	1.00
R7801:Arhgef10l	UTSW	4	140,271,578 (GRCm39)	missense	probably benign	0.00
R7811:Arhgef10l	UTSW	4	140,242,335 (GRCm39)	missense	possibly damaging	0.63
R7832:Arhgef10l	UTSW	4	140,305,616 (GRCm39)	missense	possibly damaging	0.90
R7849:Arhgef10l	UTSW	4	140,311,245 (GRCm39)	critical splice acceptor site	probably null
R7963:Arhgef10l	UTSW	4	140,306,736 (GRCm39)	missense	probably damaging	1.00
R8434:Arhgef10l	UTSW	4	140,291,582 (GRCm39)	missense	possibly damaging	0.89
R8943:Arhgef10l	UTSW	4	140,292,550 (GRCm39)	missense	probably damaging	0.99
R9004:Arhgef10l	UTSW	4	140,279,921 (GRCm39)	missense	probably damaging	0.98
R9006:Arhgef10l	UTSW	4	140,271,659 (GRCm39)	missense	probably benign	0.04
R9033:Arhgef10l	UTSW	4	140,321,463 (GRCm39)	missense	probably damaging	0.99
R9302:Arhgef10l	UTSW	4	140,242,548 (GRCm39)	missense	probably benign	0.04
R9337:Arhgef10l	UTSW	4	140,338,624 (GRCm39)	missense	probably damaging	1.00
R9375:Arhgef10l	UTSW	4	140,319,265 (GRCm39)	missense	probably benign
R9454:Arhgef10l	UTSW	4	140,308,236 (GRCm39)	nonsense	probably null
Z1088:Arhgef10l	UTSW	4	140,309,046 (GRCm39)	missense	possibly damaging	0.53
Z1177:Arhgef10l	UTSW	4	140,244,083 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GATGACCCTTCAATCCCAGCTC -3'
(R):5'- AAGGCTTTATCCCATGTGCCC -3'

Sequencing Primer
(F):5'- TCAATCCCAGCTCATTCCTAAG -3'
(R):5'- GGTTTTTCTCGGGAGCCAG -3'

Posted On

2019-05-15