Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03236:Arhgef10l'

414062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef10l

Ensembl Gene

ENSMUSG00000040964

Gene Name

Rho guanine nucleotide exchange factor 10-like

Synonyms

2810441C07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL03236

Quality Score

Status

Chromosome

Chromosomal Location

140241796-140393318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140338671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 30 (D30E)

Ref Sequence

ENSEMBL: ENSMUSP00000101425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105799] [ENSMUST00000143614] [ENSMUST00000154979]

AlphaFold

A2AWP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039204
AA Change: D30E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: D30E

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 damaging
Transcript: ENSMUST00000069623
AA Change: D30E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: D30E

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 damaging
Transcript: ENSMUST00000097820
AA Change: D30E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: D30E

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 damaging
Transcript: ENSMUST00000105799
AA Change: D30E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: D30E

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

possibly damaging
Transcript: ENSMUST00000143614
AA Change: D30E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120437
Gene: ENSMUSG00000040964
AA Change: D30E

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

Predicted Effect

unknown
Transcript: ENSMUST00000154979
AA Change: D30E

SMART Domains

Protein: ENSMUSP00000122667
Gene: ENSMUSG00000040964
AA Change: D30E

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

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 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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	G	4: 144,246,486 (GRCm39)	T11A	probably benign	Het
Abca17	A	G	17: 24,545,450 (GRCm39)		probably benign	Het
Aox1	G	T	1: 58,349,156 (GRCm39)	E641*	probably null	Het
Arhgef37	A	T	18: 61,656,897 (GRCm39)	I56N	probably damaging	Het
Cwf19l1	T	C	19: 44,115,887 (GRCm39)	I181V	probably benign	Het
Dnai2	A	G	11: 114,648,075 (GRCm39)		probably benign	Het
Elp2	A	G	18: 24,755,300 (GRCm39)		probably benign	Het
Epb41l4a	G	A	18: 33,943,272 (GRCm39)	S541L	probably damaging	Het
Ibsp	A	C	5: 104,453,871 (GRCm39)	N70H	probably benign	Het
Ikzf1	A	G	11: 11,657,848 (GRCm39)	E35G	probably damaging	Het
Kdm5a	T	C	6: 120,415,949 (GRCm39)	V1623A	probably damaging	Het
Kpna7	A	T	5: 144,922,504 (GRCm39)	V499E	unknown	Het
Krtap4-16	C	A	11: 99,741,962 (GRCm39)	R146L	unknown	Het
Map2k5	T	A	9: 63,193,674 (GRCm39)		probably benign	Het
Mfn2	A	G	4: 147,966,562 (GRCm39)	F543S	probably damaging	Het
Mical3	A	G	6: 120,946,345 (GRCm39)	L1052P	probably benign	Het
Mycbp2	T	C	14: 103,536,134 (GRCm39)	N272S	probably damaging	Het
Ndel1	A	G	11: 68,732,976 (GRCm39)	Y87H	probably benign	Het
Ndnf	G	A	6: 65,673,156 (GRCm39)	V45M	possibly damaging	Het
Nr3c1	A	G	18: 39,619,444 (GRCm39)	I281T	probably benign	Het
Ntm	A	G	9: 29,020,802 (GRCm39)	V139A	probably benign	Het
Or5ac23	A	C	16: 59,149,200 (GRCm39)	V224G	probably damaging	Het
Pkhd1l1	T	G	15: 44,445,222 (GRCm39)	V3698G	probably damaging	Het
Plcb1	A	G	2: 135,188,226 (GRCm39)	Y773C	probably damaging	Het
Prkaca	T	A	8: 84,717,074 (GRCm39)	F138Y	probably damaging	Het
Qser1	T	C	2: 104,616,877 (GRCm39)	T1312A	probably benign	Het
Slc47a2	T	C	11: 61,204,505 (GRCm39)	E282G	probably damaging	Het
Smchd1	G	A	17: 71,698,425 (GRCm39)	T1117I	possibly damaging	Het
Utp6	A	G	11: 79,851,567 (GRCm39)		probably benign	Het
Vmn1r66	T	A	7: 10,008,990 (GRCm39)	K14N	probably damaging	Het
Vmn1r71	A	T	7: 10,482,211 (GRCm39)	V93E	probably benign	Het
Zfp768	G	A	7: 126,943,142 (GRCm39)	L329F	possibly 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
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
R7117:Arhgef10l	UTSW	4	140,291,497 (GRCm39)	critical splice donor site	probably null
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

Posted On

2016-08-02