Incidental Mutation 'IGL00547:Arhgap40'
ID 6981
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap40
Ensembl Gene ENSMUSG00000074625
Gene Name Rho GTPase activating protein 40
Synonyms Gm14203
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.442) question?
Stock # IGL00547
Quality Score
Status
Chromosome 2
Chromosomal Location 158354716-158392682 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 158380546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099133] [ENSMUST00000165398]
AlphaFold E9Q6X9
Predicted Effect probably benign
Transcript: ENSMUST00000099133
SMART Domains Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625

DomainStartEndE-ValueType
low complexity region 123 143 N/A INTRINSIC
RhoGAP 340 519 1.84e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135838
Predicted Effect probably benign
Transcript: ENSMUST00000165398
SMART Domains Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625

DomainStartEndE-ValueType
low complexity region 120 140 N/A INTRINSIC
RhoGAP 337 516 1.84e-47 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,076,302 (GRCm39) Q1345K possibly damaging Het
Atp8b4 A G 2: 126,200,817 (GRCm39) C784R probably damaging Het
Bicral T C 17: 47,136,278 (GRCm39) I311V probably benign Het
Cep290 G A 10: 100,346,570 (GRCm39) R551H probably damaging Het
Chd9 A T 8: 91,732,426 (GRCm39) M842L probably damaging Het
Cntn6 A G 6: 104,627,361 (GRCm39) N65D probably damaging Het
Dnah8 C T 17: 31,034,677 (GRCm39) Q4199* probably null Het
Ercc3 T C 18: 32,397,598 (GRCm39) probably benign Het
Gm454 T C 5: 138,205,389 (GRCm39) noncoding transcript Het
Gm7073 A T X: 59,481,748 (GRCm39) D204E probably benign Het
Myo5a A G 9: 75,048,735 (GRCm39) H286R probably benign Het
Nelfb C A 2: 25,094,300 (GRCm39) M354I possibly damaging Het
Oas3 C T 5: 120,915,507 (GRCm39) probably benign Het
Phldb2 A G 16: 45,645,898 (GRCm39) S228P probably benign Het
Pls3 A T X: 74,837,874 (GRCm39) I429N probably damaging Het
Ptprq C T 10: 107,554,402 (GRCm39) V108M probably damaging Het
Rlf A G 4: 121,027,883 (GRCm39) S138P possibly damaging Het
Rpn2 T C 2: 157,156,833 (GRCm39) Y479H probably damaging Het
Sdr16c5 A T 4: 4,012,320 (GRCm39) probably benign Het
Slco6c1 A T 1: 97,015,674 (GRCm39) N372K probably benign Het
Stag2 T C X: 41,335,892 (GRCm39) I563T probably benign Het
Vrk1 T C 12: 106,024,840 (GRCm39) S239P probably damaging Het
Other mutations in Arhgap40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Arhgap40 APN 2 158,373,078 (GRCm39) missense probably benign 0.41
IGL00911:Arhgap40 APN 2 158,376,636 (GRCm39) splice site probably benign
IGL01084:Arhgap40 APN 2 158,385,138 (GRCm39) missense probably damaging 1.00
IGL02037:Arhgap40 APN 2 158,376,742 (GRCm39) missense probably damaging 1.00
IGL02111:Arhgap40 APN 2 158,381,764 (GRCm39) missense probably damaging 0.99
IGL02131:Arhgap40 APN 2 158,373,859 (GRCm39) splice site probably null
IGL02552:Arhgap40 APN 2 158,388,721 (GRCm39) missense probably benign
PIT4305001:Arhgap40 UTSW 2 158,373,825 (GRCm39) missense probably benign 0.00
R0212:Arhgap40 UTSW 2 158,392,495 (GRCm39) missense probably damaging 1.00
R0508:Arhgap40 UTSW 2 158,388,670 (GRCm39) missense probably damaging 1.00
R0787:Arhgap40 UTSW 2 158,389,710 (GRCm39) missense probably benign
R1075:Arhgap40 UTSW 2 158,391,567 (GRCm39) missense possibly damaging 0.54
R1201:Arhgap40 UTSW 2 158,376,689 (GRCm39) missense probably damaging 1.00
R1511:Arhgap40 UTSW 2 158,369,081 (GRCm39) missense probably benign
R1519:Arhgap40 UTSW 2 158,388,721 (GRCm39) missense probably benign
R1567:Arhgap40 UTSW 2 158,388,719 (GRCm39) missense probably damaging 1.00
R1662:Arhgap40 UTSW 2 158,381,190 (GRCm39) missense probably damaging 1.00
R4120:Arhgap40 UTSW 2 158,374,250 (GRCm39) missense probably benign 0.02
R4592:Arhgap40 UTSW 2 158,388,629 (GRCm39) missense possibly damaging 0.88
R4678:Arhgap40 UTSW 2 158,374,226 (GRCm39) missense probably benign 0.01
R4818:Arhgap40 UTSW 2 158,381,639 (GRCm39) missense probably damaging 1.00
R4953:Arhgap40 UTSW 2 158,385,326 (GRCm39) missense possibly damaging 0.57
R5108:Arhgap40 UTSW 2 158,389,599 (GRCm39) missense probably damaging 1.00
R5578:Arhgap40 UTSW 2 158,373,126 (GRCm39) missense probably damaging 0.99
R6924:Arhgap40 UTSW 2 158,369,066 (GRCm39) missense probably benign 0.00
R6931:Arhgap40 UTSW 2 158,373,138 (GRCm39) missense probably benign 0.00
R7028:Arhgap40 UTSW 2 158,373,294 (GRCm39) critical splice donor site probably null
R7253:Arhgap40 UTSW 2 158,389,576 (GRCm39) missense probably benign
R7385:Arhgap40 UTSW 2 158,385,147 (GRCm39) missense probably damaging 1.00
R7670:Arhgap40 UTSW 2 158,373,845 (GRCm39) missense probably benign 0.03
R7813:Arhgap40 UTSW 2 158,380,620 (GRCm39) missense probably benign 0.00
R7824:Arhgap40 UTSW 2 158,376,666 (GRCm39) missense probably damaging 1.00
R8179:Arhgap40 UTSW 2 158,381,776 (GRCm39) missense probably damaging 1.00
R8559:Arhgap40 UTSW 2 158,383,721 (GRCm39) missense probably damaging 1.00
R8799:Arhgap40 UTSW 2 158,354,758 (GRCm39) missense probably benign 0.33
R8804:Arhgap40 UTSW 2 158,389,626 (GRCm39) missense probably benign 0.00
R9096:Arhgap40 UTSW 2 158,389,584 (GRCm39) missense probably benign 0.01
R9097:Arhgap40 UTSW 2 158,389,584 (GRCm39) missense probably benign 0.01
R9222:Arhgap40 UTSW 2 158,388,692 (GRCm39) missense probably damaging 1.00
R9488:Arhgap40 UTSW 2 158,391,571 (GRCm39) missense possibly damaging 0.78
Z1176:Arhgap40 UTSW 2 158,376,805 (GRCm39) missense probably benign
Posted On 2012-04-20