Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02868:Arhgap4'

362397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap4

Ensembl Gene

ENSMUSG00000031389

Gene Name

Rho GTPase activating protein 4

Synonyms

c1, Rgc1, A530015A20Rik, A130009C12Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02868

Quality Score

Status

Chromosome

Chromosomal Location

72937958-72954945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72944008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 224 (I224T)

Ref Sequence

ENSEMBL: ENSMUSP00000110048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064376] [ENSMUST00000101470] [ENSMUST00000114404] [ENSMUST00000114405] [ENSMUST00000114406] [ENSMUST00000114407] [ENSMUST00000124798] [ENSMUST00000130976] [ENSMUST00000140393]

AlphaFold

B1AUY3

Predicted Effect

probably benign
Transcript: ENSMUST00000064376
AA Change: I412T

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

SMART Domains

Protein: ENSMUSP00000067477
Gene: ENSMUSG00000031389
AA Change: I412T

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	144	172	N/A	INTRINSIC
low complexity region	203	218	N/A	INTRINSIC
low complexity region	316	323	N/A	INTRINSIC
low complexity region	392	402	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
RhoGAP	529	703	4.11e-59	SMART
SH3	760	815	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101470

SMART Domains

Protein: ENSMUSP00000099011
Gene: ENSMUSG00000031390

Domain	Start	End	E-Value	Type
low complexity region	14	23	N/A	INTRINSIC
Pfam:7tm_1	53	311	4.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114404
AA Change: I412T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110046
Gene: ENSMUSG00000031389
AA Change: I412T

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	144	172	N/A	INTRINSIC
low complexity region	203	218	N/A	INTRINSIC
low complexity region	316	323	N/A	INTRINSIC
low complexity region	392	402	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
RhoGAP	529	692	7.02e-44	SMART
SH3	749	804	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114405
AA Change: I422T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110047
Gene: ENSMUSG00000031389
AA Change: I422T

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
low complexity region	150	166	N/A	INTRINSIC
low complexity region	213	228	N/A	INTRINSIC
low complexity region	326	333	N/A	INTRINSIC
low complexity region	402	412	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	443	459	N/A	INTRINSIC
RhoGAP	539	713	4.11e-59	SMART
SH3	770	825	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114406
AA Change: I224T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110048
Gene: ENSMUSG00000031389
AA Change: I224T

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	149	172	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC
low complexity region	245	261	N/A	INTRINSIC
RhoGAP	341	515	4.11e-59	SMART
SH3	572	627	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114407
AA Change: I391T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110049
Gene: ENSMUSG00000031389
AA Change: I391T

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
low complexity region	182	197	N/A	INTRINSIC
low complexity region	295	302	N/A	INTRINSIC
low complexity region	371	381	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	412	428	N/A	INTRINSIC
RhoGAP	508	682	4.11e-59	SMART
SH3	739	794	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124798

SMART Domains

Protein: ENSMUSP00000121215
Gene: ENSMUSG00000031389

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	155	166	N/A	INTRINSIC
low complexity region	169	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130976
AA Change: I412T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120650
Gene: ENSMUSG00000031389
AA Change: I412T

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	144	172	N/A	INTRINSIC
low complexity region	203	218	N/A	INTRINSIC
low complexity region	316	323	N/A	INTRINSIC
low complexity region	392	402	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
RhoGAP	529	703	4.11e-59	SMART
SH3	760	815	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140393
AA Change: I412T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117602
Gene: ENSMUSG00000031389
AA Change: I412T

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	144	172	N/A	INTRINSIC
low complexity region	203	218	N/A	INTRINSIC
low complexity region	316	323	N/A	INTRINSIC
low complexity region	392	402	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
coiled coil region	461	493	N/A	INTRINSIC
SCOP:d1tx4a_	513	590	3e-10	SMART
Blast:RhoGAP	529	590	3e-35	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145159

Predicted Effect

probably benign
Transcript: ENSMUST00000143696

SMART Domains

Protein: ENSMUSP00000114877
Gene: ENSMUSG00000031389

Domain	Start	End	E-Value	Type
RhoGAP	2	152	1.01e-12	SMART
SH3	144	199	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149774

SMART Domains

Protein: ENSMUSP00000115193
Gene: ENSMUSG00000031389

Domain	Start	End	E-Value	Type
RhoGAP	33	181	1.54e-31	SMART
Pfam:SH3_1	241	274	1.6e-6	PFAM

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 encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp12a	A	G	14: 56,621,639 (GRCm39)	D758G	probably damaging	Het
Clca3b	C	A	3: 144,533,325 (GRCm39)	G569V	probably damaging	Het
Dlgap4	G	A	2: 156,542,816 (GRCm39)	R73Q	probably damaging	Het
Efcc1	C	T	6: 87,728,743 (GRCm39)		probably benign	Het
Eno3	T	A	11: 70,552,826 (GRCm39)	V369E	probably damaging	Het
Espl1	T	A	15: 102,222,425 (GRCm39)	C1022*	probably null	Het
Grhl3	T	C	4: 135,281,915 (GRCm39)	D319G	probably damaging	Het
Huwe1	G	A	X: 150,691,829 (GRCm39)	R2538H	possibly damaging	Het
Lrrc37	A	T	11: 103,505,965 (GRCm39)	L2001H	probably benign	Het
Ms4a4d	T	A	19: 11,527,646 (GRCm39)	I51N	probably damaging	Het
Mtmr9	T	C	14: 63,761,588 (GRCm39)	N522S	probably benign	Het
Nfe2l1	A	G	11: 96,710,966 (GRCm39)	I133T	probably damaging	Het
Ninl	A	G	2: 150,778,974 (GRCm39)	Y1296H	probably benign	Het
Nipal3	A	G	4: 135,194,182 (GRCm39)	S284P	probably damaging	Het
Or4k40	A	T	2: 111,250,838 (GRCm39)	F153I	possibly damaging	Het
Or5g9	A	T	2: 85,551,919 (GRCm39)	T57S	probably benign	Het
Pramel5	G	T	4: 143,997,922 (GRCm39)	N440K	probably benign	Het
Rabep1	T	C	11: 70,765,572 (GRCm39)	V12A	probably benign	Het
Rbm5	G	T	9: 107,626,899 (GRCm39)		probably benign	Het
Ric3	T	C	7: 108,653,626 (GRCm39)	E155G	probably damaging	Het
Slc12a7	T	A	13: 73,954,507 (GRCm39)	M897K	probably benign	Het
Slc39a8	G	T	3: 135,561,787 (GRCm39)	A169S	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Synrg	G	A	11: 83,877,876 (GRCm39)		probably benign	Het
Tas2r107	T	C	6: 131,636,249 (GRCm39)	T267A	probably benign	Het
Tead3	G	T	17: 28,552,069 (GRCm39)	Y354*	probably null	Het
Trim3	T	C	7: 105,262,239 (GRCm39)	K579R	possibly damaging	Het
Uaca	A	T	9: 60,770,919 (GRCm39)	K362M	probably damaging	Het
Vmn2r94	A	G	17: 18,464,316 (GRCm39)	I658T	possibly damaging	Het
Vps13b	C	T	15: 35,884,665 (GRCm39)	P3113S	probably benign	Het
Zfp251	A	G	15: 76,738,734 (GRCm39)	S115P	probably damaging	Het
Zfp683	G	A	4: 133,783,177 (GRCm39)	V214M	probably benign	Het

Other mutations in Arhgap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Arhgap4	APN	X	72,943,699 (GRCm39)	unclassified	probably benign
R0603:Arhgap4	UTSW	X	72,950,389 (GRCm39)	missense	probably damaging	1.00
R5705:Arhgap4	UTSW	X	72,950,423 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18