Mutagenetix > Incidental Mutation

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 38

Synonyms

D630013G24Rik, 9130221D24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

132818039-132940710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132837812 bp (GRCm39)

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
A430033K04Rik	A	G	5: 138,645,366 (GRCm39)	Y417C	probably damaging	Het
Adam28	T	A	14: 68,859,569 (GRCm39)	H548L	possibly damaging	Het
Agbl3	A	T	6: 34,823,771 (GRCm39)	D812V	probably damaging	Het
Aopep	A	T	13: 63,163,237 (GRCm39)	D86V	possibly damaging	Het
Aox1	T	A	1: 58,098,203 (GRCm39)	L305Q	probably damaging	Het
Arl15	A	G	13: 114,291,288 (GRCm39)	I171V	probably benign	Het
Cacna1s	C	A	1: 136,012,011 (GRCm39)	Y237*	probably null	Het
Ccnt1	T	C	15: 98,462,990 (GRCm39)	T61A	possibly damaging	Het
Col25a1	T	A	3: 129,975,433 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,290,077 (GRCm39)		probably benign	Het
Dcun1d1	T	C	3: 35,970,455 (GRCm39)	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,181,309 (GRCm39)	M1065I	probably benign	Het
Ephb2	T	G	4: 136,384,795 (GRCm39)	K872T	probably damaging	Het
Fga	G	A	3: 82,938,981 (GRCm39)	G452D	probably damaging	Het
Flrt1	T	A	19: 7,074,277 (GRCm39)	N90I	probably damaging	Het
Fut10	T	A	8: 31,685,319 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr137b	T	C	13: 13,549,000 (GRCm39)		probably benign	Het
Gprc5d	G	A	6: 135,093,488 (GRCm39)	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,417,476 (GRCm39)	K237R	unknown	Het
Ipo8	A	T	6: 148,684,284 (GRCm39)	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Lama1	A	T	17: 68,120,943 (GRCm39)	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,755,889 (GRCm39)	W40R	probably damaging	Het
Minar1	T	C	9: 89,485,196 (GRCm39)	D67G	probably damaging	Het
Morn2	C	A	17: 80,602,933 (GRCm39)		probably benign	Het
Ms4a6b	T	A	19: 11,506,854 (GRCm39)	N214K	possibly damaging	Het
Nags	A	T	11: 102,039,892 (GRCm39)	S527C	probably damaging	Het
Ndst1	C	T	18: 60,841,028 (GRCm39)	G218D	probably damaging	Het
Or10j5	G	A	1: 172,785,045 (GRCm39)	V228M	probably benign	Het
Or5b94	T	A	19: 12,651,924 (GRCm39)	Y118*	probably null	Het
Or8h7	C	T	2: 86,720,589 (GRCm39)	C310Y	probably benign	Het
Oxa1l	G	T	14: 54,600,802 (GRCm39)	G92*	probably null	Het
Parp16	A	T	9: 65,137,245 (GRCm39)	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,684,984 (GRCm39)	I484F	probably damaging	Het
Pex16	A	G	2: 92,209,580 (GRCm39)	R263G	probably benign	Het
Pkd1l3	G	A	8: 110,356,869 (GRCm39)	E765K	possibly damaging	Het
Plce1	T	C	19: 38,640,350 (GRCm39)	V532A	probably damaging	Het
Polq	A	G	16: 36,885,609 (GRCm39)		probably benign	Het
Pramel5	T	C	4: 143,998,191 (GRCm39)	T351A	probably damaging	Het
Prokr1	A	T	6: 87,565,593 (GRCm39)	I84N	probably damaging	Het
Prss30	A	T	17: 24,192,695 (GRCm39)	S162T	probably benign	Het
Ranbp2	A	G	10: 58,287,806 (GRCm39)	K25E	probably damaging	Het
Rapsn	A	G	2: 90,866,205 (GRCm39)	T22A	probably damaging	Het
Rhoj	G	T	12: 75,355,680 (GRCm39)	G9V	probably damaging	Het
Rnf213	A	G	11: 119,340,169 (GRCm39)	R3467G	probably benign	Het
Rreb1	C	A	13: 38,113,622 (GRCm39)	S327*	probably null	Het
Scn5a	G	A	9: 119,315,290 (GRCm39)	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,423,042 (GRCm39)		probably null	Het
Stag3	G	A	5: 138,295,921 (GRCm39)	E416K	probably benign	Het
Stpg1	T	A	4: 135,256,856 (GRCm39)	S216T	possibly damaging	Het
Tfeb	C	A	17: 48,102,589 (GRCm39)	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,087,060 (GRCm39)	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,155,877 (GRCm39)	D2234G	probably damaging	Het
Ush1c	T	G	7: 45,846,194 (GRCm39)	Q866P	probably benign	Het
Vdr	T	A	15: 97,782,735 (GRCm39)	D29V	probably damaging	Het
Vps13c	T	C	9: 67,853,224 (GRCm39)	V2439A	probably benign	Het
Xirp2	T	C	2: 67,342,942 (GRCm39)	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,441,436 (GRCm39)	S409P	probably damaging	Het

Other mutations in Arhgef38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Arhgef38	APN	3	132,822,220 (GRCm39)	nonsense	probably null
IGL03031:Arhgef38	APN	3	132,837,828 (GRCm39)	missense	possibly damaging	0.90
F5770:Arhgef38	UTSW	3	132,855,301 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Arhgef38	UTSW	3	132,866,591 (GRCm39)	missense
R0050:Arhgef38	UTSW	3	132,837,957 (GRCm39)	missense	probably damaging	0.99
R0050:Arhgef38	UTSW	3	132,837,957 (GRCm39)	missense	probably damaging	0.99
R0076:Arhgef38	UTSW	3	132,866,507 (GRCm39)	missense	possibly damaging	0.52
R0515:Arhgef38	UTSW	3	132,855,301 (GRCm39)	missense	probably damaging	1.00
R0730:Arhgef38	UTSW	3	132,843,232 (GRCm39)	missense	probably benign	0.25
R0765:Arhgef38	UTSW	3	132,822,344 (GRCm39)	missense	probably damaging	1.00
R1054:Arhgef38	UTSW	3	132,822,226 (GRCm39)	missense	probably damaging	1.00
R1261:Arhgef38	UTSW	3	132,866,624 (GRCm39)	missense	possibly damaging	0.52
R1568:Arhgef38	UTSW	3	132,838,225 (GRCm39)	missense	probably damaging	0.98
R1580:Arhgef38	UTSW	3	132,839,465 (GRCm39)	missense	probably benign	0.24
R1716:Arhgef38	UTSW	3	132,846,598 (GRCm39)	missense	probably benign	0.35
R1875:Arhgef38	UTSW	3	132,839,501 (GRCm39)	critical splice acceptor site	probably null
R2118:Arhgef38	UTSW	3	132,866,514 (GRCm39)	missense	probably benign	0.31
R2119:Arhgef38	UTSW	3	132,866,514 (GRCm39)	missense	probably benign	0.31
R2122:Arhgef38	UTSW	3	132,866,514 (GRCm39)	missense	probably benign	0.31
R2417:Arhgef38	UTSW	3	132,852,234 (GRCm39)	missense	probably damaging	1.00
R3832:Arhgef38	UTSW	3	132,912,686 (GRCm39)	missense	possibly damaging	0.89
R4657:Arhgef38	UTSW	3	132,940,442 (GRCm39)	missense	probably damaging	1.00
R4666:Arhgef38	UTSW	3	132,846,533 (GRCm39)	critical splice donor site	probably null
R4732:Arhgef38	UTSW	3	132,838,030 (GRCm39)	nonsense	probably null
R4733:Arhgef38	UTSW	3	132,838,030 (GRCm39)	nonsense	probably null
R5059:Arhgef38	UTSW	3	132,843,175 (GRCm39)	missense	probably damaging	1.00
R5108:Arhgef38	UTSW	3	132,843,029 (GRCm39)	missense	probably benign	0.14
R5310:Arhgef38	UTSW	3	132,822,227 (GRCm39)	missense	probably damaging	0.98
R5820:Arhgef38	UTSW	3	132,866,560 (GRCm39)	missense	probably benign	0.44
R5987:Arhgef38	UTSW	3	132,912,719 (GRCm39)	missense	possibly damaging	0.67
R6115:Arhgef38	UTSW	3	132,838,374 (GRCm39)	splice site	probably null
R6313:Arhgef38	UTSW	3	132,940,469 (GRCm39)	missense	possibly damaging	0.80
R6339:Arhgef38	UTSW	3	132,839,423 (GRCm39)	missense	probably benign	0.35
R6356:Arhgef38	UTSW	3	132,846,638 (GRCm39)	missense	probably benign	0.01
R6648:Arhgef38	UTSW	3	132,838,236 (GRCm39)	missense	probably damaging	1.00
R7050:Arhgef38	UTSW	3	132,839,388 (GRCm39)	start gained	probably benign
R7083:Arhgef38	UTSW	3	132,838,197 (GRCm39)	missense	unknown
R7561:Arhgef38	UTSW	3	132,866,489 (GRCm39)	missense
R7769:Arhgef38	UTSW	3	132,855,383 (GRCm39)	missense	unknown
R8050:Arhgef38	UTSW	3	132,843,323 (GRCm39)	nonsense	probably null
R8471:Arhgef38	UTSW	3	132,940,472 (GRCm39)	missense	probably damaging	1.00
R8835:Arhgef38	UTSW	3	132,837,832 (GRCm39)	missense	unknown
R9151:Arhgef38	UTSW	3	132,912,706 (GRCm39)	missense
R9154:Arhgef38	UTSW	3	132,837,924 (GRCm39)	missense	unknown
R9263:Arhgef38	UTSW	3	132,866,529 (GRCm39)	missense
R9367:Arhgef38	UTSW	3	132,847,998 (GRCm39)	missense	unknown
R9628:Arhgef38	UTSW	3	132,838,025 (GRCm39)	missense	unknown
R9799:Arhgef38	UTSW	3	132,855,391 (GRCm39)	missense	unknown
Z1177:Arhgef38	UTSW	3	132,912,722 (GRCm39)	nonsense	probably null

Posted On

2015-08-05