Incidental Mutation 'IGL02630:Arhgap23'
ID 301254
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 # IGL02630
Quality Score
Status
Chromosome 11
Chromosomal Location 97306359-97393228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97345123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 631 (T631A)
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 benign
Transcript: ENSMUST00000107601
AA Change: T420A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: T420A

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
AA Change: T631A

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: T631A

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
AA Change: T120A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: T120A

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Arhgap23
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16