Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00533:Arhgef38'

332455

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 #

IGL00533

Quality Score

Status

Chromosome

Chromosomal Location

133112278-133234949 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 133116459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 181 (W181*)

Ref Sequence

ENSEMBL: ENSMUSP00000054558 (fasta)

Gene Model

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

AlphaFold

Q80VK6

Predicted Effect

probably null
Transcript: ENSMUST00000054105
AA Change: W181*

SMART Domains

Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969
AA Change: W181*

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

unknown
Transcript: ENSMUST00000147041
AA Change: G765E

SMART Domains

Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: G765E

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 31,139,475	L175Q	probably damaging	Het
Akna	A	T	4: 63,397,873		probably null	Het
Gm5581	A	T	6: 131,167,641		noncoding transcript	Het
Hyls1	G	T	9: 35,561,924	Y65*	probably null	Het
Map1b	A	G	13: 99,432,604	I1203T	unknown	Het
Met	C	T	6: 17,534,937		probably benign	Het
Pcdh15	A	G	10: 74,502,720	T1065A	probably damaging	Het
Proser3	A	G	7: 30,540,671	V336A	possibly damaging	Het
Prpf40a	G	A	2: 53,145,343	R729C	probably damaging	Het
Ptprk	A	G	10: 28,585,975	E1152G	probably damaging	Het
Scn11a	A	C	9: 119,774,381	D1073E	probably damaging	Het
Spsb3	C	T	17: 24,890,565		probably benign	Het

Other mutations in Arhgef38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Arhgef38	APN	3	133132051	missense	probably benign	0.05
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