Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00336:Arhgef38'

332311

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef38

Ensembl Gene

ENSMUSG00000040969

Gene Name

Rho guanine nucleotide exchange factor (GEF) 38

Synonyms

D630013G24Rik, 9130221D24Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

133112278-133234949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133132051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 706 (V706A)

Ref Sequence

ENSEMBL: ENSMUSP00000114238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054105] [ENSMUST00000147041]

AlphaFold

Q80VK6

Predicted Effect

probably benign
Transcript: ENSMUST00000054105
AA Change: V123A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969
AA Change: V123A

Domain	Start	End	E-Value	Type
SH3	1	60	5.56e-1	SMART
low complexity region	95	106	N/A	INTRINSIC
SH3	126	189	8.2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147041
AA Change: V706A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: V706A

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
RhoGEF	98	284	2.72e-33	SMART
low complexity region	296	312	N/A	INTRINSIC
BAR	315	514	4.8e-29	SMART
SH3	584	643	5.56e-1	SMART
low complexity region	678	689	N/A	INTRINSIC
SH3	709	768	1.95e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,423	D86V	possibly damaging	Het
A430033K04Rik	A	G	5: 138,647,104	Y417C	probably damaging	Het
Adam28	T	A	14: 68,622,120	H548L	possibly damaging	Het
AF529169	T	C	9: 89,603,143	D67G	probably damaging	Het
Agbl3	A	T	6: 34,846,836	D812V	probably damaging	Het
Aox1	T	A	1: 58,059,044	L305Q	probably damaging	Het
Arl15	A	G	13: 114,154,752	I171V	probably benign	Het
Cacna1s	C	A	1: 136,084,273	Y237*	probably null	Het
Ccnt1	T	C	15: 98,565,109	T61A	possibly damaging	Het
Col25a1	T	A	3: 130,181,784		probably benign	Het
Col4a1	T	A	8: 11,240,077		probably benign	Het
Dcun1d1	T	C	3: 35,916,306	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,142,149	M1065I	probably benign	Het
Ephb2	T	G	4: 136,657,484	K872T	probably damaging	Het
Fga	G	A	3: 83,031,674	G452D	probably damaging	Het
Flrt1	T	A	19: 7,096,912	N90I	probably damaging	Het
Fut10	T	A	8: 31,195,291		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr137b	T	C	13: 13,374,415		probably benign	Het
Gprc5d	G	A	6: 135,116,490	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,451,217	K237R	unknown	Het
Ipo8	A	T	6: 148,782,786	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Lama1	A	T	17: 67,813,948	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,778,926	W40R	probably damaging	Het
Morn2	C	A	17: 80,295,504		probably benign	Het
Ms4a6b	T	A	19: 11,529,490	N214K	possibly damaging	Het
Nags	A	T	11: 102,149,066	S527C	probably damaging	Het
Ndst1	C	T	18: 60,707,956	G218D	probably damaging	Het
Olfr1097	C	T	2: 86,890,245	C310Y	probably benign	Het
Olfr1442	T	A	19: 12,674,560	Y118*	probably null	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Oxa1l	G	T	14: 54,363,345	G92*	probably null	Het
Parp16	A	T	9: 65,229,963	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,447,544	I484F	probably damaging	Het
Pex16	A	G	2: 92,379,235	R263G	probably benign	Het
Pkd1l3	G	A	8: 109,630,237	E765K	possibly damaging	Het
Plce1	T	C	19: 38,651,906	V532A	probably damaging	Het
Polq	A	G	16: 37,065,247		probably benign	Het
Pramel5	T	C	4: 144,271,621	T351A	probably damaging	Het
Prokr1	A	T	6: 87,588,611	I84N	probably damaging	Het
Prss30	A	T	17: 23,973,721	S162T	probably benign	Het
Ranbp2	A	G	10: 58,451,984	K25E	probably damaging	Het
Rapsn	A	G	2: 91,035,860	T22A	probably damaging	Het
Rhoj	G	T	12: 75,308,906	G9V	probably damaging	Het
Rnf213	A	G	11: 119,449,343	R3467G	probably benign	Het
Rreb1	C	A	13: 37,929,646	S327*	probably null	Het
Scn5a	G	A	9: 119,486,224	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,289,975		probably null	Het
Stag3	G	A	5: 138,297,659	E416K	probably benign	Het
Stpg1	T	A	4: 135,529,545	S216T	possibly damaging	Het
Tfeb	C	A	17: 47,791,664	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,256,579	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,428,566	D2234G	probably damaging	Het
Ush1c	T	G	7: 46,196,770	Q866P	probably benign	Het
Vdr	T	A	15: 97,884,854	D29V	probably damaging	Het
Vps13c	T	C	9: 67,945,942	V2439A	probably benign	Het
Xirp2	T	C	2: 67,512,598	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,464,475	S409P	probably damaging	Het

Other mutations in Arhgef38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Arhgef38	APN	3	133116459	nonsense	probably null
IGL03031:Arhgef38	APN	3	133132067	missense	possibly damaging	0.90
F5770:Arhgef38	UTSW	3	133149540	missense	probably damaging	1.00
PIT4362001:Arhgef38	UTSW	3	133160830	missense
R0050:Arhgef38	UTSW	3	133132196	missense	probably damaging	0.99
R0050:Arhgef38	UTSW	3	133132196	missense	probably damaging	0.99
R0076:Arhgef38	UTSW	3	133160746	missense	possibly damaging	0.52
R0515:Arhgef38	UTSW	3	133149540	missense	probably damaging	1.00
R0730:Arhgef38	UTSW	3	133137471	missense	probably benign	0.25
R0765:Arhgef38	UTSW	3	133116583	missense	probably damaging	1.00
R1054:Arhgef38	UTSW	3	133116465	missense	probably damaging	1.00
R1261:Arhgef38	UTSW	3	133160863	missense	possibly damaging	0.52
R1568:Arhgef38	UTSW	3	133132464	missense	probably damaging	0.98
R1580:Arhgef38	UTSW	3	133133704	missense	probably benign	0.24
R1716:Arhgef38	UTSW	3	133140837	missense	probably benign	0.35
R1875:Arhgef38	UTSW	3	133133740	critical splice acceptor site	probably null
R2118:Arhgef38	UTSW	3	133160753	missense	probably benign	0.31
R2119:Arhgef38	UTSW	3	133160753	missense	probably benign	0.31
R2122:Arhgef38	UTSW	3	133160753	missense	probably benign	0.31
R2417:Arhgef38	UTSW	3	133146473	missense	probably damaging	1.00
R3832:Arhgef38	UTSW	3	133206925	missense	possibly damaging	0.89
R4657:Arhgef38	UTSW	3	133234681	missense	probably damaging	1.00
R4666:Arhgef38	UTSW	3	133140772	critical splice donor site	probably null
R4732:Arhgef38	UTSW	3	133132269	nonsense	probably null
R4733:Arhgef38	UTSW	3	133132269	nonsense	probably null
R5059:Arhgef38	UTSW	3	133137414	missense	probably damaging	1.00
R5108:Arhgef38	UTSW	3	133137268	missense	probably benign	0.14
R5310:Arhgef38	UTSW	3	133116466	missense	probably damaging	0.98
R5820:Arhgef38	UTSW	3	133160799	missense	probably benign	0.44
R5987:Arhgef38	UTSW	3	133206958	missense	possibly damaging	0.67
R6115:Arhgef38	UTSW	3	133132613	splice site	probably null
R6313:Arhgef38	UTSW	3	133234708	missense	possibly damaging	0.80
R6339:Arhgef38	UTSW	3	133133662	missense	probably benign	0.35
R6356:Arhgef38	UTSW	3	133140877	missense	probably benign	0.01
R6648:Arhgef38	UTSW	3	133132475	missense	probably damaging	1.00
R7050:Arhgef38	UTSW	3	133133627	start gained	probably benign
R7083:Arhgef38	UTSW	3	133132436	missense	unknown
R7561:Arhgef38	UTSW	3	133160728	missense
R7769:Arhgef38	UTSW	3	133149622	missense	unknown
R8050:Arhgef38	UTSW	3	133137562	nonsense	probably null
R8471:Arhgef38	UTSW	3	133234711	missense	probably damaging	1.00
R8835:Arhgef38	UTSW	3	133132071	missense	unknown
R9151:Arhgef38	UTSW	3	133206945	missense
R9154:Arhgef38	UTSW	3	133132163	missense	unknown
R9263:Arhgef38	UTSW	3	133160768	missense
R9367:Arhgef38	UTSW	3	133142237	missense	unknown
Z1177:Arhgef38	UTSW	3	133206961	nonsense	probably null

Posted On

2015-08-05