Incidental Mutation 'IGL00911:Arhgap40'
ID26855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap40
Ensembl Gene ENSMUSG00000074625
Gene NameRho GTPase activating protein 40
SynonymsGm14203
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.445) question?
Stock #IGL00911
Quality Score
Status
Chromosome2
Chromosomal Location158512796-158550762 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 158534716 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099133] [ENSMUST00000165398]
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm T C 5: 90,525,591 V234A probably benign Het
Alas1 T A 9: 106,236,472 I525F probably benign Het
Ambra1 T A 2: 91,767,682 probably benign Het
Apbb2 G A 5: 66,451,512 T264M probably damaging Het
Chd9 C T 8: 91,051,692 P2793L probably damaging Het
Clstn1 T G 4: 149,643,191 probably benign Het
Cyp2f2 T C 7: 27,121,929 V13A probably damaging Het
Dnah1 C T 14: 31,304,434 probably null Het
Eogt A T 6: 97,120,000 V349E probably damaging Het
Epb41 T C 4: 131,989,784 D353G possibly damaging Het
Fam172a T A 13: 77,951,975 probably benign Het
Fbxo38 T A 18: 62,530,800 I207F possibly damaging Het
Frem2 T C 3: 53,572,462 S1937G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh3 G T 15: 99,233,001 G500* probably null Het
Khdc1b A T 1: 21,384,354 K94* probably null Het
Lpcat2 T C 8: 92,890,710 Y367H probably damaging Het
Lrrd1 A C 5: 3,865,689 N762T probably benign Het
Mbl2 T A 19: 30,238,394 D100E possibly damaging Het
Mthfr T G 4: 148,041,302 S31A probably benign Het
Nrp1 T A 8: 128,476,207 S558T probably benign Het
Nrxn3 T C 12: 90,204,592 L1254P probably damaging Het
Olfr693 A T 7: 106,677,833 Y218N probably damaging Het
Pabpc1l C A 2: 164,042,423 T360K probably damaging Het
Pcgf1 G A 6: 83,080,625 G92S probably damaging Het
Penk T C 4: 4,134,347 Y100C probably damaging Het
Pik3r1 T C 13: 101,757,661 probably benign Het
Pkhd1 T A 1: 20,117,747 T3446S probably benign Het
Plcg2 G A 8: 117,586,515 D473N probably benign Het
Poll G T 19: 45,553,601 T422K probably damaging Het
Skint3 T A 4: 112,255,909 probably benign Het
Stab2 C A 10: 86,969,753 C243F probably damaging Het
Supt6 T C 11: 78,231,181 E215G possibly damaging Het
Tas1r2 C A 4: 139,660,291 P354T probably benign Het
Tenm2 G A 11: 36,008,733 Q2533* probably null Het
Tmem121 C T 12: 113,188,231 A23V probably damaging Het
Other mutations in Arhgap40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Arhgap40 APN 2 158531158 missense probably benign 0.41
IGL00547:Arhgap40 APN 2 158538626 splice site probably benign
IGL01084:Arhgap40 APN 2 158543218 missense probably damaging 1.00
IGL02037:Arhgap40 APN 2 158534822 missense probably damaging 1.00
IGL02111:Arhgap40 APN 2 158539844 missense probably damaging 0.99
IGL02131:Arhgap40 APN 2 158531939 splice site probably null
IGL02552:Arhgap40 APN 2 158546801 missense probably benign
PIT4305001:Arhgap40 UTSW 2 158531905 missense probably benign 0.00
R0212:Arhgap40 UTSW 2 158550575 missense probably damaging 1.00
R0508:Arhgap40 UTSW 2 158546750 missense probably damaging 1.00
R0787:Arhgap40 UTSW 2 158547790 missense probably benign
R1075:Arhgap40 UTSW 2 158549647 missense possibly damaging 0.54
R1201:Arhgap40 UTSW 2 158534769 missense probably damaging 1.00
R1511:Arhgap40 UTSW 2 158527161 missense probably benign
R1519:Arhgap40 UTSW 2 158546801 missense probably benign
R1567:Arhgap40 UTSW 2 158546799 missense probably damaging 1.00
R1662:Arhgap40 UTSW 2 158539270 missense probably damaging 1.00
R4120:Arhgap40 UTSW 2 158532330 missense probably benign 0.02
R4592:Arhgap40 UTSW 2 158546709 missense possibly damaging 0.88
R4678:Arhgap40 UTSW 2 158532306 missense probably benign 0.01
R4818:Arhgap40 UTSW 2 158539719 missense probably damaging 1.00
R4953:Arhgap40 UTSW 2 158543406 missense possibly damaging 0.57
R5108:Arhgap40 UTSW 2 158547679 missense probably damaging 1.00
R5578:Arhgap40 UTSW 2 158531206 missense probably damaging 0.99
R6924:Arhgap40 UTSW 2 158527146 missense probably benign 0.00
R6931:Arhgap40 UTSW 2 158531218 missense probably benign 0.00
R7028:Arhgap40 UTSW 2 158531374 critical splice donor site probably null
R7253:Arhgap40 UTSW 2 158547656 missense probably benign
R7385:Arhgap40 UTSW 2 158543227 missense probably damaging 1.00
R7670:Arhgap40 UTSW 2 158531925 missense probably benign 0.03
R7813:Arhgap40 UTSW 2 158538700 missense probably benign 0.00
R7824:Arhgap40 UTSW 2 158534746 missense probably damaging 1.00
Z1176:Arhgap40 UTSW 2 158534885 missense not run
Posted On2013-04-17