Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03380:Arhgap23'

420663

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 #

IGL03380

Quality Score

Status

Chromosome

Chromosomal Location

97306359-97393228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97343344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 542 (D542G)

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: D331G

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

SMART Domains

Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: D331G

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: D542G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: D542G

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: D31G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: D31G

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,574 (GRCm39)	N2774D	probably benign	Het
Aldh1a2	T	G	9: 71,162,399 (GRCm39)	Y149*	probably null	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Atp8a1	T	C	5: 67,889,529 (GRCm39)	E582G	probably benign	Het
C4b	A	T	17: 34,959,260 (GRCm39)	V438D	probably benign	Het
Caps2	A	G	10: 112,036,601 (GRCm39)	E345G	probably benign	Het
Cdk19	C	T	10: 40,352,908 (GRCm39)	P308L	probably benign	Het
Drc3	A	G	11: 60,268,731 (GRCm39)	E307G	probably benign	Het
Dst	G	A	1: 34,296,881 (GRCm39)	A1041T	probably damaging	Het
Elp2	T	C	18: 24,755,537 (GRCm39)	V428A	probably benign	Het
Eml5	G	T	12: 98,840,906 (GRCm39)		probably benign	Het
Fam120b	G	A	17: 15,623,396 (GRCm39)		probably benign	Het
Fpr-rs6	G	A	17: 20,403,245 (GRCm39)	L39F	possibly damaging	Het
Fsd1	T	C	17: 56,302,456 (GRCm39)	I300T	probably benign	Het
Hsd17b6	T	C	10: 127,830,207 (GRCm39)		probably null	Het
Hspa1a	T	C	17: 35,189,253 (GRCm39)	K550R	probably benign	Het
Krba1	A	G	6: 48,380,387 (GRCm39)	H37R	possibly damaging	Het
Lama2	T	C	10: 26,926,261 (GRCm39)	D2117G	probably damaging	Het
Map4k2	T	C	19: 6,394,620 (GRCm39)	F332S	possibly damaging	Het
Mindy1	T	C	3: 95,198,329 (GRCm39)		probably benign	Het
Nhsl1	T	G	10: 18,399,627 (GRCm39)	Y284*	probably null	Het
Or5b109	T	A	19: 13,212,365 (GRCm39)	F250L	probably benign	Het
Pkhd1	T	A	1: 20,270,894 (GRCm39)	T3220S	probably damaging	Het
Pramel7	A	T	2: 87,321,716 (GRCm39)	D106E	probably benign	Het
Psme3	T	C	11: 101,210,852 (GRCm39)		probably null	Het
Rsph1	T	C	17: 31,496,210 (GRCm39)	E7G	unknown	Het
Slc13a2	T	C	11: 78,289,908 (GRCm39)	T469A	probably benign	Het
Slc30a9	C	T	5: 67,473,054 (GRCm39)	T46I	probably benign	Het
Slc37a4	T	G	9: 44,311,320 (GRCm39)	S204A	probably benign	Het
Slc8b1	T	C	5: 120,657,800 (GRCm39)	F88L	probably damaging	Het
Smpd3	C	T	8: 106,986,291 (GRCm39)	V504I	probably benign	Het
Tbx4	A	G	11: 85,805,465 (GRCm39)	N418S	probably benign	Het
Tmem132c	A	G	5: 127,613,506 (GRCm39)	T470A	probably benign	Het
Tmem207	A	T	16: 26,345,407 (GRCm39)	C20S	probably damaging	Het
Usp43	G	A	11: 67,766,142 (GRCm39)	A761V	possibly damaging	Het
Vmn1r191	C	T	13: 22,363,055 (GRCm39)	S233N	probably damaging	Het
Vmn2r58	T	A	7: 41,513,874 (GRCm39)	E256D	probably benign	Het
Zc3hav1	T	C	6: 38,313,493 (GRCm39)	Y184C	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
IGL01729:Arhgap23	APN	11	97,344,787 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02