Mutagenetix > Incidental Mutation

Incidental Mutation 'R0603:Arhgap4'

55574

Institutional Source

Beutler Lab

Gene Symbol

Arhgap4

Ensembl Gene

ENSMUSG00000031389

Gene Name

Rho GTPase activating protein 4

Synonyms

c1, Rgc1, A530015A20Rik, A130009C12Rik

MMRRC Submission

038792-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R0603 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

72937958-72954945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72950389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 54 (R54Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064376] [ENSMUST00000114404] [ENSMUST00000114405] [ENSMUST00000114406] [ENSMUST00000114407] [ENSMUST00000123283] [ENSMUST00000124798] [ENSMUST00000140393] [ENSMUST00000130976]

AlphaFold

B1AUY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000064376
AA Change: R54Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067477
Gene: ENSMUSG00000031389
AA Change: R54Q

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 damaging
Transcript: ENSMUST00000114404
AA Change: R54Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110046
Gene: ENSMUSG00000031389
AA Change: R54Q

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 damaging
Transcript: ENSMUST00000114405
AA Change: R54Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110047
Gene: ENSMUSG00000031389
AA Change: R54Q

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: R54Q

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

SMART Domains

Protein: ENSMUSP00000110048
Gene: ENSMUSG00000031389
AA Change: R54Q

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 damaging
Transcript: ENSMUST00000114407
AA Change: R54Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110049
Gene: ENSMUSG00000031389
AA Change: R54Q

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: ENSMUST00000123283

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 damaging
Transcript: ENSMUST00000140393
AA Change: R54Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117602
Gene: ENSMUSG00000031389
AA Change: R54Q

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

probably damaging
Transcript: ENSMUST00000130976
AA Change: R54Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120650
Gene: ENSMUSG00000031389
AA Change: R54Q

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

noncoding transcript
Transcript: ENSMUST00000149135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145159

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc7	A	G	5: 122,578,233 (GRCm39)	N406S	probably benign	Het
Asb15	T	A	6: 24,556,556 (GRCm39)	I17N	probably damaging	Het
Atp8a1	T	C	5: 67,914,039 (GRCm39)		probably null	Het
Caprin1	A	G	2: 103,627,146 (GRCm39)	V47A	probably benign	Het
Col4a2	T	C	8: 11,464,779 (GRCm39)	V348A	probably benign	Het
Disp2	A	G	2: 118,622,487 (GRCm39)	K1073R	probably damaging	Het
Dmxl2	G	A	9: 54,313,190 (GRCm39)	H1686Y	possibly damaging	Het
Dzank1	C	T	2: 144,353,432 (GRCm39)	V152I	probably benign	Het
Elp1	A	T	4: 56,792,105 (GRCm39)	I221N	possibly damaging	Het
Evl	T	A	12: 108,614,681 (GRCm39)	I25N	probably damaging	Het
Fam117a	A	G	11: 95,271,699 (GRCm39)	K424E	probably damaging	Het
Gm17732	C	T	18: 62,795,823 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,820,480 (GRCm39)	I659T	possibly damaging	Het
Hectd4	T	A	5: 121,442,400 (GRCm39)	V1280E	possibly damaging	Het
Irs4	T	C	X: 140,508,071 (GRCm39)	T42A	probably damaging	Het
Kdm4a	C	T	4: 117,999,708 (GRCm39)	V905I	probably damaging	Het
Lmtk3	T	A	7: 45,444,980 (GRCm39)		probably benign	Het
Lsp1	G	A	7: 142,043,115 (GRCm39)	R221H	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mmut	A	T	17: 41,258,057 (GRCm39)	I408F	probably damaging	Het
Nckap1	A	T	2: 80,343,073 (GRCm39)	V942E	probably benign	Het
Neto1	T	A	18: 86,491,785 (GRCm39)	C229S	possibly damaging	Het
Nipal2	A	G	15: 34,650,544 (GRCm39)	I63T	probably damaging	Het
Or11g2	T	C	14: 50,855,967 (GRCm39)	I96T	probably damaging	Het
Or1af1	G	A	2: 37,110,118 (GRCm39)	V206I	probably damaging	Het
Or4k49	A	T	2: 111,495,225 (GRCm39)	Y218F	probably damaging	Het
Or7e165	A	T	9: 19,695,235 (GRCm39)	R269W	probably damaging	Het
Or8g36	C	A	9: 39,422,810 (GRCm39)	V69F	possibly damaging	Het
Pgpep1	T	C	8: 71,103,283 (GRCm39)	E120G	probably benign	Het
Pkhd1	A	T	1: 20,187,397 (GRCm39)	M3637K	probably benign	Het
Pkm	T	C	9: 59,573,164 (GRCm39)	V58A	probably damaging	Het
Ppp2r1b	C	A	9: 50,772,985 (GRCm39)	T154K	probably damaging	Het
Rgs18	T	A	1: 144,631,818 (GRCm39)	D98V	possibly damaging	Het
Rsph6a	G	T	7: 18,799,886 (GRCm39)	A506S	possibly damaging	Het
Selenop	T	A	15: 3,305,183 (GRCm39)	V113E	probably damaging	Het
Slc6a11	G	A	6: 114,221,851 (GRCm39)	V514M	probably benign	Het
Srsf9	C	T	5: 115,470,696 (GRCm39)	S132L	probably damaging	Het
Tchh	G	A	3: 93,351,088 (GRCm39)	R176H	possibly damaging	Het
Tcp11	T	C	17: 28,286,784 (GRCm39)	N405S	probably damaging	Het
Tle1	A	C	4: 72,036,584 (GRCm39)	D760E	probably damaging	Het
Tmem178	A	G	17: 81,252,488 (GRCm39)	D124G	possibly damaging	Het
Trabd	G	A	15: 88,966,929 (GRCm39)	E118K	probably damaging	Het
Ttc39a	A	G	4: 109,283,499 (GRCm39)	D115G	probably damaging	Het
Uaca	T	A	9: 60,778,379 (GRCm39)	M920K	possibly damaging	Het
Uba2	A	T	7: 33,861,038 (GRCm39)	M5K	probably damaging	Het
Unc5c	C	T	3: 141,476,863 (GRCm39)	P343L	probably damaging	Het
Wdhd1	T	C	14: 47,501,043 (GRCm39)	D453G	probably damaging	Het
Wfdc8	A	G	2: 164,445,145 (GRCm39)	Y157H	probably damaging	Het
Zbbx	T	G	3: 74,985,757 (GRCm39)	K432Q	probably benign	Het
Zeb2	G	A	2: 44,907,438 (GRCm39)	T169M	probably benign	Het
Zfp956	A	G	6: 47,932,962 (GRCm39)	E79G	probably damaging	Het
Zzef1	G	A	11: 72,708,895 (GRCm39)	V165I	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
IGL02868:Arhgap4	APN	X	72,944,008 (GRCm39)	missense	probably benign	0.01
R5705:Arhgap4	UTSW	X	72,950,423 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAATACGTCCCACATCTTCGC -3'
(R):5'- GCTTTTAGCTCAGTCAGGTGCCAG -3'

Sequencing Primer
(F):5'- CTTCCTGTAGCAGAGGAGAACTC -3'
(R):5'- CAGGGAGCCTTTGGTGTAGAC -3'

Posted On

2013-07-11