Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01729:Arhgap23'

105389

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 #

IGL01729

Quality Score

Status

Chromosome

Chromosomal Location

97306359-97393228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97344787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 583 (T583I)

Ref Sequence

ENSEMBL: ENSMUSP00000112999 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107601
AA Change: T372I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: T372I

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 damaging
Transcript: ENSMUST00000121799
AA Change: T583I

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

SMART Domains

Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: T583I

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

possibly damaging
Transcript: ENSMUST00000142465
AA Change: T72I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: T72I

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,112,526 (GRCm39)	F86L	probably damaging	Het
Acer3	A	G	7: 97,866,072 (GRCm39)	V217A	probably benign	Het
Adcy10	T	C	1: 165,340,737 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,678,511 (GRCm39)	V481I	probably damaging	Het
Ano3	C	T	2: 110,611,739 (GRCm39)		probably null	Het
Atp2a1	A	G	7: 126,057,106 (GRCm39)	L173P	probably damaging	Het
Clgn	T	C	8: 84,124,279 (GRCm39)	W74R	probably damaging	Het
Clstn3	T	C	6: 124,426,753 (GRCm39)	S523G	probably benign	Het
Dnah10	A	C	5: 124,864,529 (GRCm39)	K2245Q	probably benign	Het
Dsg1b	G	T	18: 20,538,295 (GRCm39)	V634L	possibly damaging	Het
Dzip3	A	T	16: 48,748,726 (GRCm39)	V864E	possibly damaging	Het
Ear2	A	T	14: 44,340,701 (GRCm39)	R120*	probably null	Het
Fam171b	T	C	2: 83,685,881 (GRCm39)		probably benign	Het
Fam186b	G	A	15: 99,178,132 (GRCm39)	S398L	probably benign	Het
Gabrp	T	C	11: 33,502,689 (GRCm39)	K392E	probably damaging	Het
Gm10355	G	A	3: 101,213,999 (GRCm39)		noncoding transcript	Het
Gm3424	T	C	14: 17,337,188 (GRCm39)	Y90C	probably damaging	Het
Gm8165	A	G	14: 43,910,186 (GRCm39)	V212A	unknown	Het
Grm7	G	A	6: 111,223,145 (GRCm39)	R395Q	probably benign	Het
Il1r1	T	A	1: 40,333,986 (GRCm39)	N185K	probably damaging	Het
Jam3	A	G	9: 27,016,821 (GRCm39)	F80L	probably damaging	Het
Map1s	T	C	8: 71,365,712 (GRCm39)	Y206H	probably damaging	Het
Mroh7	A	G	4: 106,561,402 (GRCm39)	Y614H	possibly damaging	Het
Ntmt2	T	A	1: 163,552,572 (GRCm39)	D18V	probably damaging	Het
Pate2	T	C	9: 35,581,888 (GRCm39)	Y61H	probably damaging	Het
Prox1	T	A	1: 189,893,372 (GRCm39)	T358S	probably benign	Het
Prpf6	T	A	2: 181,296,710 (GRCm39)	D876E	probably damaging	Het
Rpf1	G	A	3: 146,212,904 (GRCm39)	R311C	probably damaging	Het
Rpusd2	T	A	2: 118,865,837 (GRCm39)	V178D	probably damaging	Het
Stx2	A	G	5: 129,068,042 (GRCm39)	F222L	probably benign	Het
Themis	T	A	10: 28,637,587 (GRCm39)	Y230*	probably null	Het
Tmem132e	T	C	11: 82,325,942 (GRCm39)	L314P	possibly damaging	Het
Tmtc3	T	C	10: 100,283,017 (GRCm39)	E846G	probably benign	Het
Trem1	T	C	17: 48,551,603 (GRCm39)	V88A	possibly damaging	Het
Trim21	G	A	7: 102,213,100 (GRCm39)	A66V	probably damaging	Het
Trip4	A	C	9: 65,782,174 (GRCm39)	V186G	probably benign	Het
Vps9d1	T	C	8: 123,973,739 (GRCm39)	E348G	probably damaging	Het
Xrn2	T	C	2: 146,878,717 (GRCm39)		probably null	Het
Zfp36	A	G	7: 28,077,888 (GRCm39)	S7P	probably damaging	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
IGL01805:Arhgap23	APN	11	97,383,428 (GRCm39)	intron	probably benign
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

2014-01-21