Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02862:Arhgap23'

362198

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 #

IGL02862

Quality Score

Status

Chromosome

Chromosomal Location

97306359-97393228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97347306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 668 (E668G)

Ref Sequence

ENSEMBL: ENSMUSP00000112999 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107601
AA Change: E457G

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: E457G

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: E668G

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

SMART Domains

Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: E668G

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
AA Change: E157G

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: E157G

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,611,659 (GRCm39)		probably benign	Het
Adhfe1	T	C	1: 9,624,036 (GRCm39)	L170P	probably damaging	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Akr1e1	T	C	13: 4,659,092 (GRCm39)	T11A	possibly damaging	Het
Ccdc163	G	A	4: 116,569,910 (GRCm39)		probably null	Het
Egfr	A	T	11: 16,833,562 (GRCm39)	Y610F	probably benign	Het
Ercc3	T	C	18: 32,376,255 (GRCm39)		probably null	Het
Fasn	G	T	11: 120,709,805 (GRCm39)	H417Q	possibly damaging	Het
Gjd2	A	G	2: 113,843,624 (GRCm39)		probably benign	Het
Grip2	C	T	6: 91,765,085 (GRCm39)	R59H	probably damaging	Het
H2bc11	C	T	13: 22,227,515 (GRCm39)	S39L	possibly damaging	Het
Ighv1-43	A	G	12: 114,909,859 (GRCm39)	V21A	probably damaging	Het
Ltbp1	G	A	17: 75,697,466 (GRCm39)	G1368D	probably damaging	Het
Mogs	G	T	6: 83,092,871 (GRCm39)	G104C	probably damaging	Het
Nfix	T	A	8: 85,440,475 (GRCm39)	T472S	probably benign	Het
Or5m9	T	C	2: 85,877,648 (GRCm39)	V274A	probably benign	Het
Ovch2	A	T	7: 107,394,138 (GRCm39)	V105E	probably damaging	Het
Pex1	G	T	5: 3,655,424 (GRCm39)		probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Prl7a1	T	C	13: 27,823,872 (GRCm39)	T70A	probably benign	Het
Shmt2	C	T	10: 127,354,743 (GRCm39)	R311Q	probably benign	Het
St3gal4	A	G	9: 34,963,543 (GRCm39)	I255T	probably benign	Het
Taf8	C	T	17: 47,805,339 (GRCm39)	A187T	probably damaging	Het
Tm6sf1	T	A	7: 81,520,504 (GRCm39)	V62D	probably damaging	Het
Trpm5	A	T	7: 142,636,262 (GRCm39)	W537R	probably damaging	Het
Vmn2r101	T	A	17: 19,831,867 (GRCm39)	L621H	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
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

2015-12-18