Incidental Mutation 'R0787:Arhgap40'
ID 76889
Institutional Source Beutler Lab
Gene Symbol Arhgap40
Ensembl Gene ENSMUSG00000074625
Gene Name Rho GTPase activating protein 40
Synonyms Gm14203
MMRRC Submission 038967-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.493) question?
Stock # R0787 (G1)
Quality Score 193
Status Validated
Chromosome 2
Chromosomal Location 158512796-158550762 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158547790 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 625 (S625P)
Ref Sequence ENSEMBL: ENSMUSP00000130349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099133] [ENSMUST00000165398]
AlphaFold E9Q6X9
Predicted Effect probably benign
Transcript: ENSMUST00000099133
AA Change: S628P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: S628P

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
AA Change: S625P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: S625P

DomainStartEndE-ValueType
low complexity region 120 140 N/A INTRINSIC
RhoGAP 337 516 1.84e-47 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik T A 4: 107,890,129 (GRCm38) L6Q probably damaging Het
1700001F09Rik A T 14: 43,345,493 (GRCm38) probably null Het
Abca8a T A 11: 110,042,988 (GRCm38) Y1197F possibly damaging Het
Abcc2 T C 19: 43,798,516 (GRCm38) probably null Het
Adamts16 A T 13: 70,738,829 (GRCm38) C979S probably damaging Het
Agap2 T A 10: 127,085,150 (GRCm38) D523E unknown Het
Ankfy1 T A 11: 72,760,296 (GRCm38) I1024N probably damaging Het
Ankrd13c A G 3: 157,994,678 (GRCm38) S379G probably null Het
Armc12 G C 17: 28,538,766 (GRCm38) A291P probably damaging Het
Armc9 A G 1: 86,202,505 (GRCm38) N524D probably damaging Het
Col12a1 G T 9: 79,638,485 (GRCm38) T2305K probably damaging Het
Cyp2c54 T C 19: 40,047,635 (GRCm38) N277S probably benign Het
E130311K13Rik A T 3: 63,920,298 (GRCm38) V129E probably benign Het
Ehbp1l1 T C 19: 5,722,668 (GRCm38) D79G possibly damaging Het
Epb41l1 A G 2: 156,494,090 (GRCm38) E58G probably damaging Het
Fam217b T A 2: 178,420,909 (GRCm38) V222E probably benign Het
Fat1 T A 8: 45,040,555 (GRCm38) Y3913N probably damaging Het
Fgd4 A G 16: 16,423,901 (GRCm38) probably benign Het
Hltf A T 3: 20,106,446 (GRCm38) D759V probably damaging Het
Hsp90ab1 ACTTCTT ACTT 17: 45,569,499 (GRCm38) probably benign Het
Isg15 C T 4: 156,199,939 (GRCm38) R44H probably benign Het
Itga4 C T 2: 79,279,153 (GRCm38) T232I probably benign Het
Kntc1 C A 5: 123,796,104 (GRCm38) H1399Q probably benign Het
Lig1 A C 7: 13,299,069 (GRCm38) K499Q probably benign Het
Lrrn3 C A 12: 41,454,231 (GRCm38) C29F probably damaging Het
Mtmr10 T C 7: 64,300,615 (GRCm38) I136T possibly damaging Het
Naip1 A G 13: 100,426,096 (GRCm38) Y854H probably benign Het
Olfr770 T C 10: 129,133,526 (GRCm38) N81D possibly damaging Het
Pcdh9 G A 14: 93,886,757 (GRCm38) A659V possibly damaging Het
Phf20l1 T A 15: 66,615,630 (GRCm38) probably benign Het
Phgdh A G 3: 98,334,549 (GRCm38) V83A probably damaging Het
Pik3r1 A T 13: 101,690,523 (GRCm38) M326K probably benign Het
Pirb A T 7: 3,717,638 (GRCm38) L287Q probably benign Het
Pkd1l2 T C 8: 117,076,177 (GRCm38) D235G possibly damaging Het
Pkhd1l1 C A 15: 44,529,264 (GRCm38) P1665Q probably damaging Het
Ppp1r7 A G 1: 93,364,956 (GRCm38) T326A probably damaging Het
Prr22 A T 17: 56,771,072 (GRCm38) Y75F possibly damaging Het
Ptov1 A C 7: 44,865,470 (GRCm38) probably null Het
Rasal2 A G 1: 157,158,696 (GRCm38) S766P probably damaging Het
Shmt1 T C 11: 60,792,976 (GRCm38) T337A probably benign Het
St5 G T 7: 109,525,620 (GRCm38) R1068S possibly damaging Het
Tbc1d4 A T 14: 101,449,209 (GRCm38) I1168N probably damaging Het
Tecpr2 T C 12: 110,946,343 (GRCm38) V1126A probably benign Het
Tep1 A T 14: 50,829,230 (GRCm38) S2304T possibly damaging Het
Tiam1 C A 16: 89,789,561 (GRCm38) R1446M probably damaging Het
Tmem87a T C 2: 120,370,484 (GRCm38) I425V probably benign Het
Ubr3 T C 2: 69,951,421 (GRCm38) probably benign Het
Ubxn7 T A 16: 32,381,763 (GRCm38) probably benign Het
Vmn2r13 A G 5: 109,156,847 (GRCm38) S573P probably damaging Het
Wdfy3 A T 5: 101,957,388 (GRCm38) V191E probably damaging Het
Zdhhc3 A T 9: 123,083,623 (GRCm38) C153* probably null Het
Zfp407 A T 18: 84,209,022 (GRCm38) V2154D probably damaging Het
Zfp407 A G 18: 84,209,346 (GRCm38) V2046A probably benign Het
Zfr T A 15: 12,140,548 (GRCm38) I227N unknown Het
Other mutations in Arhgap40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Arhgap40 APN 2 158,531,158 (GRCm38) missense probably benign 0.41
IGL00547:Arhgap40 APN 2 158,538,626 (GRCm38) splice site probably benign
IGL00911:Arhgap40 APN 2 158,534,716 (GRCm38) splice site probably benign
IGL01084:Arhgap40 APN 2 158,543,218 (GRCm38) missense probably damaging 1.00
IGL02037:Arhgap40 APN 2 158,534,822 (GRCm38) missense probably damaging 1.00
IGL02111:Arhgap40 APN 2 158,539,844 (GRCm38) missense probably damaging 0.99
IGL02131:Arhgap40 APN 2 158,531,939 (GRCm38) splice site probably null
IGL02552:Arhgap40 APN 2 158,546,801 (GRCm38) missense probably benign
PIT4305001:Arhgap40 UTSW 2 158,531,905 (GRCm38) missense probably benign 0.00
R0212:Arhgap40 UTSW 2 158,550,575 (GRCm38) missense probably damaging 1.00
R0508:Arhgap40 UTSW 2 158,546,750 (GRCm38) missense probably damaging 1.00
R1075:Arhgap40 UTSW 2 158,549,647 (GRCm38) missense possibly damaging 0.54
R1201:Arhgap40 UTSW 2 158,534,769 (GRCm38) missense probably damaging 1.00
R1511:Arhgap40 UTSW 2 158,527,161 (GRCm38) missense probably benign
R1519:Arhgap40 UTSW 2 158,546,801 (GRCm38) missense probably benign
R1567:Arhgap40 UTSW 2 158,546,799 (GRCm38) missense probably damaging 1.00
R1662:Arhgap40 UTSW 2 158,539,270 (GRCm38) missense probably damaging 1.00
R4120:Arhgap40 UTSW 2 158,532,330 (GRCm38) missense probably benign 0.02
R4592:Arhgap40 UTSW 2 158,546,709 (GRCm38) missense possibly damaging 0.88
R4678:Arhgap40 UTSW 2 158,532,306 (GRCm38) missense probably benign 0.01
R4818:Arhgap40 UTSW 2 158,539,719 (GRCm38) missense probably damaging 1.00
R4953:Arhgap40 UTSW 2 158,543,406 (GRCm38) missense possibly damaging 0.57
R5108:Arhgap40 UTSW 2 158,547,679 (GRCm38) missense probably damaging 1.00
R5578:Arhgap40 UTSW 2 158,531,206 (GRCm38) missense probably damaging 0.99
R6924:Arhgap40 UTSW 2 158,527,146 (GRCm38) missense probably benign 0.00
R6931:Arhgap40 UTSW 2 158,531,218 (GRCm38) missense probably benign 0.00
R7028:Arhgap40 UTSW 2 158,531,374 (GRCm38) critical splice donor site probably null
R7253:Arhgap40 UTSW 2 158,547,656 (GRCm38) missense probably benign
R7385:Arhgap40 UTSW 2 158,543,227 (GRCm38) missense probably damaging 1.00
R7670:Arhgap40 UTSW 2 158,531,925 (GRCm38) missense probably benign 0.03
R7813:Arhgap40 UTSW 2 158,538,700 (GRCm38) missense probably benign 0.00
R7824:Arhgap40 UTSW 2 158,534,746 (GRCm38) missense probably damaging 1.00
R8179:Arhgap40 UTSW 2 158,539,856 (GRCm38) missense probably damaging 1.00
R8559:Arhgap40 UTSW 2 158,541,801 (GRCm38) missense probably damaging 1.00
R8799:Arhgap40 UTSW 2 158,512,838 (GRCm38) missense probably benign 0.33
R8804:Arhgap40 UTSW 2 158,547,706 (GRCm38) missense probably benign 0.00
R9096:Arhgap40 UTSW 2 158,547,664 (GRCm38) missense probably benign 0.01
R9097:Arhgap40 UTSW 2 158,547,664 (GRCm38) missense probably benign 0.01
R9222:Arhgap40 UTSW 2 158,546,772 (GRCm38) missense probably damaging 1.00
R9488:Arhgap40 UTSW 2 158,549,651 (GRCm38) missense possibly damaging 0.78
Z1176:Arhgap40 UTSW 2 158,534,885 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCAAAGTGGCAAAGATCCAGGTCC -3'
(R):5'- CATGCACCGTCTGATCTACAGTAGC -3'

Sequencing Primer
(F):5'- CAAAGATCCAGGTCCAGGCG -3'
(R):5'- ttaaaatCAGTAATGAATGGTGGCCC -3'
Posted On 2013-10-16