Incidental Mutation 'R1662:Arhgap40'
ID186818
Institutional Source Beutler Lab
Gene Symbol Arhgap40
Ensembl Gene ENSMUSG00000074625
Gene NameRho GTPase activating protein 40
SynonymsGm14203
MMRRC Submission 039698-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.581) question?
Stock #R1662 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location158512796-158550762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 158539270 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tryptophan at position 349 (C349W)
Ref Sequence ENSEMBL: ENSMUSP00000130349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099133] [ENSMUST00000165398]
Predicted Effect probably damaging
Transcript: ENSMUST00000099133
AA Change: C352W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: C352W

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 damaging
Transcript: ENSMUST00000165398
AA Change: C349W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: C349W

DomainStartEndE-ValueType
low complexity region 120 140 N/A INTRINSIC
RhoGAP 337 516 1.84e-47 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik T A 4: 126,611,682 M1K probably null Het
5730507C01Rik A C 12: 18,531,966 R119S possibly damaging Het
Abca1 T A 4: 53,090,251 probably null Het
Aff1 G A 5: 103,841,057 G830D probably damaging Het
AI987944 T C 7: 41,374,449 T369A possibly damaging Het
Aoah A G 13: 21,000,113 probably null Het
Atic T A 1: 71,576,127 D438E probably benign Het
Barhl2 A T 5: 106,453,499 M338K probably benign Het
Btd T C 14: 31,666,790 V156A probably damaging Het
Ccdc82 T C 9: 13,262,772 V319A probably damaging Het
Celsr1 G T 15: 86,031,062 N903K probably damaging Het
Cenpf T A 1: 189,657,771 N1288I probably damaging Het
Ciao1 G A 2: 127,244,937 T252I probably benign Het
Cma2 T C 14: 55,973,116 C87R probably damaging Het
Cops7a T A 6: 124,962,438 R83W probably damaging Het
Cxcr6 A T 9: 123,810,548 M205L possibly damaging Het
Dcc A G 18: 71,420,338 L749P probably benign Het
Dync1i2 C T 2: 71,250,979 T484I possibly damaging Het
Epas1 A T 17: 86,829,027 K742N probably damaging Het
Evc2 A G 5: 37,348,750 T138A probably benign Het
F5 T C 1: 164,207,888 I1877T probably damaging Het
Fat1 T G 8: 44,953,164 V984G probably benign Het
Fat4 T A 3: 38,980,779 V2860D probably damaging Het
Foxn4 C T 5: 114,256,894 R324Q probably benign Het
Gapdhs C T 7: 30,737,002 R120H probably damaging Het
Gcnt3 T C 9: 70,034,377 D303G probably benign Het
Gm16432 A G 1: 178,046,986 K140E unknown Het
Gng11 A T 6: 4,008,066 Y43F probably benign Het
Hectd4 A C 5: 121,317,245 M651L probably benign Het
Ifngr2 T A 16: 91,560,596 Y200N probably benign Het
Iqgap3 T C 3: 88,098,401 V512A probably benign Het
Kdm2a A C 19: 4,328,212 D187E probably damaging Het
Klhl8 A G 5: 103,872,045 V370A probably damaging Het
Kmt2a G A 9: 44,836,670 probably benign Het
Krt12 C A 11: 99,420,824 V184F probably benign Het
Lrrc8c A T 5: 105,606,757 I133F probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 probably null Het
Map1a C G 2: 121,306,408 S2568R possibly damaging Het
Mbnl1 C A 3: 60,625,172 Q301K probably damaging Het
Med12l A T 3: 59,093,617 K724N probably damaging Het
Mroh2a A C 1: 88,241,618 I672L probably benign Het
Mybph C T 1: 134,193,636 P45S probably benign Het
Myo15 T A 11: 60,501,701 S2157T probably damaging Het
Olfr113 G T 17: 37,575,273 T50K probably damaging Het
Olfr193 T C 16: 59,110,604 E2G probably benign Het
Olfr374 T C 8: 72,109,779 V71A probably benign Het
Olfr721-ps1 T A 14: 14,407,880 Y217* probably null Het
Otogl A G 10: 107,798,357 I1419T possibly damaging Het
Ovol1 A T 19: 5,551,639 F118L probably damaging Het
Pak7 T C 2: 136,116,760 D136G probably damaging Het
Pik3r2 T C 8: 70,770,606 Y417C probably damaging Het
Ppp2r2a T C 14: 67,016,603 N372S probably benign Het
Prss30 G T 17: 23,972,832 N238K possibly damaging Het
Prss33 C A 17: 23,834,811 probably null Het
Ptpn4 T C 1: 119,765,058 E187G probably damaging Het
Ptprg A T 14: 12,207,357 N100I probably damaging Het
Rbpms2 T C 9: 65,651,042 V130A probably benign Het
Rdh7 A T 10: 127,888,612 M1K probably null Het
Rtp3 A C 9: 110,986,683 S205A probably benign Het
Ryr3 G T 2: 112,709,273 D3207E probably damaging Het
Scn9a T A 2: 66,483,459 T1972S probably benign Het
Scnn1b T C 7: 121,902,328 V122A probably benign Het
Slc15a4 A G 5: 127,608,979 L213S probably damaging Het
Slc27a5 T A 7: 12,991,246 I425F probably damaging Het
Spata31d1b A G 13: 59,716,628 D530G probably benign Het
Tcf25 T A 8: 123,381,550 S115T probably benign Het
Tet2 A G 3: 133,466,852 L1883P possibly damaging Het
Trim21 T A 7: 102,561,898 R205* probably null Het
Ttc23 G T 7: 67,725,321 probably null Het
Unc13d T C 11: 116,068,673 K658R probably null Het
Vmn1r43 A G 6: 89,869,590 F305L possibly damaging Het
Vmn2r2 A T 3: 64,117,130 C677S probably benign Het
Wnt5a T C 14: 28,518,343 M150T probably benign Het
Ythdc1 G A 5: 86,828,122 probably null Het
Zcchc6 T C 13: 59,799,903 E466G possibly damaging Het
Zdbf2 A T 1: 63,304,249 R596* probably null 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
IGL00911:Arhgap40 APN 2 158534716 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
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
Predicted Primers PCR Primer
(F):5'- TCCTGCAAGCTGTAAGTTGTCCCC -3'
(R):5'- ACAGACTAGCCAGGACCCTGATTC -3'

Sequencing Primer
(F):5'- agctgagagagctgggtg -3'
(R):5'- AGGACCCTGATTCTCTCCCAG -3'
Posted On2014-05-09