Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01805:Arhgap23'

155657

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap23

Ensembl Gene

ENSMUSG00000049807

Gene Name

Rho GTPase activating protein 23

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01805

Quality Score

Status

Chromosome

Chromosomal Location

97306359-97393228 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 97383428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056955] [ENSMUST00000093940] [ENSMUST00000107601] [ENSMUST00000121799] [ENSMUST00000142465]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000056955
AA Change: Y58F

SMART Domains

Protein: ENSMUSP00000060323
Gene: ENSMUSG00000047988
AA Change: Y58F

Domain	Start	End	E-Value	Type
low complexity region	77	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093940

SMART Domains

Protein: ENSMUSP00000091472
Gene: ENSMUSG00000049807

Domain	Start	End	E-Value	Type
Blast:RhoGAP	72	123	3e-6	BLAST
low complexity region	149	162	N/A	INTRINSIC
low complexity region	173	194	N/A	INTRINSIC
low complexity region	224	242	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107601

SMART Domains

Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807

Domain	Start	End	E-Value	Type
low complexity region	246	258	N/A	INTRINSIC
low complexity region	354	369	N/A	INTRINSIC
low complexity region	426	443	N/A	INTRINSIC
PH	479	600	3.2e-12	SMART
low complexity region	679	687	N/A	INTRINSIC
RhoGAP	707	884	6.83e-65	SMART
low complexity region	1051	1066	N/A	INTRINSIC
low complexity region	1101	1114	N/A	INTRINSIC
low complexity region	1125	1146	N/A	INTRINSIC
low complexity region	1176	1194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121799

SMART Domains

Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
PDZ	52	160	4.2e-17	SMART
low complexity region	457	469	N/A	INTRINSIC
low complexity region	565	580	N/A	INTRINSIC
low complexity region	637	654	N/A	INTRINSIC
PH	690	811	3.2e-12	SMART
low complexity region	890	898	N/A	INTRINSIC
RhoGAP	918	1095	6.83e-65	SMART
low complexity region	1262	1277	N/A	INTRINSIC
low complexity region	1312	1325	N/A	INTRINSIC
low complexity region	1336	1357	N/A	INTRINSIC
low complexity region	1387	1405	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142465

SMART Domains

Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807

Domain	Start	End	E-Value	Type
low complexity region	54	69	N/A	INTRINSIC
low complexity region	126	143	N/A	INTRINSIC
PH	179	300	3.2e-12	SMART
low complexity region	379	387	N/A	INTRINSIC
RhoGAP	407	584	6.83e-65	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,677 (GRCm39)	D17G	possibly damaging	Het
Adam28	G	T	14: 68,879,540 (GRCm39)	S169R	probably benign	Het
Aox1	T	C	1: 58,120,672 (GRCm39)	M855T	possibly damaging	Het
Apc	C	A	18: 34,451,271 (GRCm39)	N2688K	probably benign	Het
Bpifa6	A	G	2: 153,826,832 (GRCm39)	T66A	probably benign	Het
C1qtnf1	T	A	11: 118,338,993 (GRCm39)	L221Q	probably damaging	Het
Ccdc175	T	A	12: 72,176,003 (GRCm39)		probably benign	Het
Ccl1	C	A	11: 82,068,958 (GRCm39)	M26I	possibly damaging	Het
Dnah10	T	A	5: 124,860,985 (GRCm39)	F2123I	probably damaging	Het
Fancm	T	C	12: 65,160,635 (GRCm39)		probably null	Het
Fstl4	C	A	11: 53,077,184 (GRCm39)	A647E	probably damaging	Het
Hmgb4	G	T	4: 128,154,015 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,802,737 (GRCm39)		probably benign	Het
Ilrun	C	T	17: 27,986,880 (GRCm39)		probably benign	Het
Kcna4	G	T	2: 107,126,843 (GRCm39)	V526L	probably damaging	Het
Mas1	T	C	17: 13,061,117 (GRCm39)	Y102C	probably damaging	Het
Mucl3	T	A	17: 35,948,535 (GRCm39)	T355S	possibly damaging	Het
Mul1	C	T	4: 138,166,974 (GRCm39)	P343S	possibly damaging	Het
Obscn	T	C	11: 59,023,422 (GRCm39)	S652G	probably damaging	Het
Or8g55	T	C	9: 39,785,075 (GRCm39)	F168S	probably damaging	Het
Pjvk	A	T	2: 76,487,858 (GRCm39)	N250I	probably benign	Het
Pkd2	T	C	5: 104,630,959 (GRCm39)	I461T	probably benign	Het
Psen2	T	C	1: 180,057,403 (GRCm39)		probably null	Het
Ralb	T	C	1: 119,403,725 (GRCm39)	E81G	probably benign	Het
Slc15a4	T	C	5: 127,685,900 (GRCm39)	T261A	possibly damaging	Het
Vmn2r77	G	A	7: 86,460,395 (GRCm39)	V574M	probably benign	Het
Xrn2	A	G	2: 146,870,063 (GRCm39)	I251V	probably damaging	Het
Zfp974	G	A	7: 27,611,689 (GRCm39)		probably benign	Het

Other mutations in Arhgap23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Arhgap23	APN	11	97,383,497 (GRCm39)	intron	probably benign
IGL00493:Arhgap23	APN	11	97,337,379 (GRCm39)	critical splice donor site	probably null
IGL01729:Arhgap23	APN	11	97,344,787 (GRCm39)	missense	probably damaging	1.00
IGL02005:Arhgap23	APN	11	97,382,045 (GRCm39)	missense	probably damaging	0.99
IGL02026:Arhgap23	APN	11	97,342,407 (GRCm39)	missense	probably damaging	0.99
IGL02135:Arhgap23	APN	11	97,342,528 (GRCm39)	missense	probably damaging	0.97
IGL02178:Arhgap23	APN	11	97,343,179 (GRCm39)	missense	probably benign	0.42
IGL02226:Arhgap23	APN	11	97,342,426 (GRCm39)	missense	probably benign	0.07
IGL02309:Arhgap23	APN	11	97,356,827 (GRCm39)	splice site	probably benign
IGL02399:Arhgap23	APN	11	97,381,831 (GRCm39)	intron	probably benign
IGL02630:Arhgap23	APN	11	97,345,123 (GRCm39)	missense	probably benign	0.24
IGL02724:Arhgap23	APN	11	97,382,005 (GRCm39)	missense	probably damaging	0.99
IGL02740:Arhgap23	APN	11	97,365,843 (GRCm39)	missense	probably damaging	1.00
IGL02746:Arhgap23	APN	11	97,345,030 (GRCm39)	splice site	probably benign
IGL02862:Arhgap23	APN	11	97,347,306 (GRCm39)	missense	probably damaging	1.00
IGL03380:Arhgap23	APN	11	97,343,344 (GRCm39)	missense	probably damaging	1.00
R0091:Arhgap23	UTSW	11	97,343,070 (GRCm39)	missense	probably benign	0.44
R0134:Arhgap23	UTSW	11	97,335,154 (GRCm39)	missense	probably benign	0.09
R0225:Arhgap23	UTSW	11	97,335,154 (GRCm39)	missense	probably benign	0.09
R0305:Arhgap23	UTSW	11	97,391,935 (GRCm39)	missense	probably damaging	0.99
R0358:Arhgap23	UTSW	11	97,354,414 (GRCm39)	missense	probably damaging	1.00
R0422:Arhgap23	UTSW	11	97,354,478 (GRCm39)	missense	probably damaging	1.00
R0497:Arhgap23	UTSW	11	97,342,989 (GRCm39)	missense	probably damaging	1.00
R0580:Arhgap23	UTSW	11	97,337,362 (GRCm39)	frame shift	probably null
R0782:Arhgap23	UTSW	11	97,391,380 (GRCm39)	missense	possibly damaging	0.73
R1216:Arhgap23	UTSW	11	97,383,498 (GRCm39)	intron	probably benign
R1488:Arhgap23	UTSW	11	97,391,685 (GRCm39)	missense	possibly damaging	0.53
R1785:Arhgap23	UTSW	11	97,342,387 (GRCm39)	missense	possibly damaging	0.77
R1844:Arhgap23	UTSW	11	97,354,234 (GRCm39)	missense	probably damaging	1.00
R1855:Arhgap23	UTSW	11	97,339,523 (GRCm39)	missense	probably damaging	0.99
R1977:Arhgap23	UTSW	11	97,342,273 (GRCm39)	missense	possibly damaging	0.95
R2064:Arhgap23	UTSW	11	97,383,888 (GRCm39)	missense	probably benign	0.02
R2130:Arhgap23	UTSW	11	97,342,387 (GRCm39)	missense	possibly damaging	0.77
R2431:Arhgap23	UTSW	11	97,343,230 (GRCm39)	missense	probably benign
R2853:Arhgap23	UTSW	11	97,383,420 (GRCm39)	splice site	probably null
R3767:Arhgap23	UTSW	11	97,366,932 (GRCm39)	missense	probably damaging	1.00
R3768:Arhgap23	UTSW	11	97,366,932 (GRCm39)	missense	probably damaging	1.00
R3769:Arhgap23	UTSW	11	97,366,932 (GRCm39)	missense	probably damaging	1.00
R3770:Arhgap23	UTSW	11	97,366,932 (GRCm39)	missense	probably damaging	1.00
R4209:Arhgap23	UTSW	11	97,345,322 (GRCm39)	missense	probably damaging	0.99
R4247:Arhgap23	UTSW	11	97,354,525 (GRCm39)	missense	probably damaging	1.00
R4997:Arhgap23	UTSW	11	97,342,846 (GRCm39)	missense	probably damaging	0.98
R5399:Arhgap23	UTSW	11	97,391,743 (GRCm39)	missense	probably damaging	0.97
R5549:Arhgap23	UTSW	11	97,357,394 (GRCm39)	missense	probably damaging	0.96
R5655:Arhgap23	UTSW	11	97,343,372 (GRCm39)	critical splice donor site	probably null
R5857:Arhgap23	UTSW	11	97,342,405 (GRCm39)	missense	possibly damaging	0.93
R6013:Arhgap23	UTSW	11	97,391,818 (GRCm39)	missense	probably damaging	0.99
R6031:Arhgap23	UTSW	11	97,366,965 (GRCm39)	missense	probably damaging	1.00
R6031:Arhgap23	UTSW	11	97,366,965 (GRCm39)	missense	probably damaging	1.00
R6077:Arhgap23	UTSW	11	97,382,058 (GRCm39)	critical splice donor site	probably null
R6151:Arhgap23	UTSW	11	97,391,238 (GRCm39)	missense	probably benign	0.01
R6393:Arhgap23	UTSW	11	97,354,498 (GRCm39)	missense	probably damaging	0.98
R6693:Arhgap23	UTSW	11	97,357,343 (GRCm39)	missense	probably damaging	1.00
R6752:Arhgap23	UTSW	11	97,343,074 (GRCm39)	missense	probably damaging	0.98
R7202:Arhgap23	UTSW	11	97,342,819 (GRCm39)	missense	possibly damaging	0.65
R7209:Arhgap23	UTSW	11	97,383,273 (GRCm39)	splice site	probably null
R7209:Arhgap23	UTSW	11	97,366,911 (GRCm39)	missense	probably damaging	1.00
R7320:Arhgap23	UTSW	11	97,342,371 (GRCm39)	missense	probably benign	0.10
R7345:Arhgap23	UTSW	11	97,357,304 (GRCm39)	missense	possibly damaging	0.91
R7599:Arhgap23	UTSW	11	97,391,169 (GRCm39)	missense	probably benign
R8229:Arhgap23	UTSW	11	97,344,732 (GRCm39)	missense	probably benign	0.36
R8332:Arhgap23	UTSW	11	97,381,960 (GRCm39)	missense	unknown
R8412:Arhgap23	UTSW	11	97,356,854 (GRCm39)	missense	probably benign	0.02
R8460:Arhgap23	UTSW	11	97,343,197 (GRCm39)	missense	probably damaging	1.00
R8492:Arhgap23	UTSW	11	97,365,847 (GRCm39)	missense	probably damaging	1.00
R8525:Arhgap23	UTSW	11	97,380,910 (GRCm39)	missense	probably damaging	1.00
R8692:Arhgap23	UTSW	11	97,345,322 (GRCm39)	missense	probably damaging	0.99
R8708:Arhgap23	UTSW	11	97,343,238 (GRCm39)	missense	probably benign	0.06
R8749:Arhgap23	UTSW	11	97,391,641 (GRCm39)	missense	probably damaging	0.99
R8882:Arhgap23	UTSW	11	97,355,949 (GRCm39)	missense	probably benign	0.00
R9188:Arhgap23	UTSW	11	97,390,983 (GRCm39)	missense	possibly damaging	0.72
RF020:Arhgap23	UTSW	11	97,354,387 (GRCm39)	missense	probably damaging	1.00
V8831:Arhgap23	UTSW	11	97,347,371 (GRCm39)	missense	probably benign	0.00

Posted On

2014-02-04