Incidental Mutation 'IGL00485:Arhgap23'
ID 332199
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 # IGL00485
Quality Score
Status
Chromosome 11
Chromosomal Location 97306359-97393228 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 97383497 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: T35M
SMART Domains Protein: ENSMUSP00000060323
Gene: ENSMUSG00000047988
AA Change: T35M

DomainStartEndE-ValueType
low complexity region 77 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093940
SMART Domains Protein: ENSMUSP00000091472
Gene: ENSMUSG00000049807

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Arhgap23
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-08-05