Incidental Mutation 'IGL02508:Arhgap39'
ID296467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap39
Ensembl Gene ENSMUSG00000033697
Gene NameRho GTPase activating protein 39
SynonymsD15Wsu169e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL02508
Quality Score
Status
Chromosome15
Chromosomal Location76723985-76818170 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 76724984 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glutamine at position 1079 (*1079Q)
Ref Sequence ENSEMBL: ENSMUSP00000076993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036176] [ENSMUST00000036247] [ENSMUST00000049956] [ENSMUST00000077821] [ENSMUST00000228990]
Predicted Effect probably null
Transcript: ENSMUST00000036176
AA Change: *1110Q
SMART Domains Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: *1110Q

DomainStartEndE-ValueType
WW 27 60 1.64e0 SMART
WW 66 99 5.41e-1 SMART
low complexity region 125 138 N/A INTRINSIC
low complexity region 304 318 N/A INTRINSIC
Pfam:MyTH4 759 904 2.3e-32 PFAM
RhoGAP 932 1105 5.9e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036247
SMART Domains Protein: ENSMUSP00000039910
Gene: ENSMUSG00000116138

DomainStartEndE-ValueType
Pfam:DUF4505 31 209 5.4e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049956
SMART Domains Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LRRNT 30 62 1.04e-2 SMART
LRR 61 80 3.18e2 SMART
LRR_TYP 81 104 2.99e-4 SMART
LRR 106 128 3.87e1 SMART
LRR_TYP 129 152 8.22e-2 SMART
LRR_TYP 153 176 5.06e-2 SMART
LRR 177 200 2.02e-1 SMART
LRRCT 212 266 2e-10 SMART
IGc2 280 360 1.02e-9 SMART
transmembrane domain 409 431 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000077821
AA Change: *1079Q
SMART Domains Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: *1079Q

DomainStartEndE-ValueType
WW 27 60 1.64e0 SMART
WW 66 99 5.41e-1 SMART
low complexity region 125 138 N/A INTRINSIC
low complexity region 304 318 N/A INTRINSIC
Pfam:MyTH4 756 874 3.3e-25 PFAM
RhoGAP 901 1074 5.9e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176724
Predicted Effect probably benign
Transcript: ENSMUST00000228990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231059
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 117,077,115 noncoding transcript Het
5430419D17Rik A G 7: 131,222,830 E91G probably damaging Het
Adgrv1 A T 13: 81,435,556 probably benign Het
AI429214 T G 8: 36,994,086 D129E probably benign Het
Alx1 G A 10: 103,022,193 T215M probably damaging Het
Brca2 T C 5: 150,543,308 V2179A possibly damaging Het
Celsr1 G A 15: 86,030,617 Q1052* probably null Het
Chd5 A G 4: 152,363,024 E510G probably damaging Het
Cntnap2 A G 6: 46,234,320 D556G probably damaging Het
Cux2 G A 5: 121,860,822 P1352S possibly damaging Het
Cyp4a31 A T 4: 115,571,064 Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 probably null Het
Dcc C A 18: 71,370,702 A942S probably benign Het
Dyrk1a A T 16: 94,685,183 D463V probably damaging Het
Eln T A 5: 134,704,568 probably benign Het
Fbxl13 A G 5: 21,556,805 probably null Het
Fndc3b T C 3: 27,458,751 Y742C probably damaging Het
Furin G A 7: 80,392,521 T442I probably benign Het
Gli1 T C 10: 127,337,092 Q155R probably benign Het
Glra3 A G 8: 56,085,144 E218G probably benign Het
Gm13101 T C 4: 143,965,020 N378D probably benign Het
Grb10 C T 11: 11,946,767 V236M probably damaging Het
Grhl2 T C 15: 37,309,765 probably benign Het
Hgfac A T 5: 35,047,220 M579L probably damaging Het
Ifi202b A T 1: 173,974,772 D165E probably benign Het
Klhl26 A T 8: 70,452,731 D95E probably damaging Het
Klk12 T C 7: 43,769,689 V26A probably benign Het
Lrp2 C T 2: 69,503,430 G1489D probably benign Het
Lrrtm1 A T 6: 77,244,591 S344C probably damaging Het
Lzts1 G A 8: 69,140,848 R36* probably null Het
Mapkap1 T C 2: 34,518,669 probably benign Het
Meis3 T A 7: 16,178,797 probably null Het
Mtmr14 T A 6: 113,240,306 C60S probably damaging Het
Nfkb1 T A 3: 135,590,818 Y789F probably damaging Het
Nup54 G A 5: 92,417,539 Q440* probably null Het
Ogdhl T G 14: 32,345,174 M861R probably damaging Het
Olfr1290 C T 2: 111,489,835 A108T probably damaging Het
Olfr1425 G T 19: 12,073,887 H248Q possibly damaging Het
Olfr156 T C 4: 43,821,289 E24G possibly damaging Het
Olfr692 A T 7: 105,368,536 H61L possibly damaging Het
Olfr810 A G 10: 129,790,791 V266A probably benign Het
Pde6c A G 19: 38,157,500 K412R probably benign Het
Pex5l T C 3: 32,992,902 probably benign Het
Pigr A T 1: 130,850,858 I760L probably benign Het
Prr14l G A 5: 32,830,942 A403V probably benign Het
Prrt3 T C 6: 113,494,307 D968G probably damaging Het
Psmc5 T C 11: 106,263,043 I401T possibly damaging Het
Ralyl T A 3: 14,107,272 probably benign Het
Samd9l T C 6: 3,374,798 E821G probably damaging Het
Serpinb3a T A 1: 107,046,072 I370F probably damaging Het
Setd1a A G 7: 127,797,698 probably benign Het
Slco2a1 T A 9: 103,074,416 F381L probably benign Het
Strada A G 11: 106,168,356 Y199H probably benign Het
Stxbp2 T C 8: 3,632,531 I40T probably damaging Het
Tbx3 T C 5: 119,678,812 V358A possibly damaging Het
Tenm3 A G 8: 48,299,639 L896S probably benign Het
Tmem132a A G 19: 10,858,518 S883P probably damaging Het
Trio A G 15: 27,818,104 I496T possibly damaging Het
Unc79 C T 12: 103,112,276 R1548W probably damaging Het
Unc79 T C 12: 103,112,018 probably benign Het
Vmn2r9 T C 5: 108,848,201 M194V possibly damaging Het
Other mutations in Arhgap39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Arhgap39 APN 15 76737815 splice site probably benign
IGL01586:Arhgap39 APN 15 76730438 missense probably benign 0.16
IGL01693:Arhgap39 APN 15 76725967 missense probably null 1.00
IGL02017:Arhgap39 APN 15 76737037 missense probably damaging 0.98
IGL03333:Arhgap39 APN 15 76726732 missense probably benign 0.05
R0328:Arhgap39 UTSW 15 76751952 splice site probably benign
R0432:Arhgap39 UTSW 15 76734886 missense probably damaging 0.99
R0479:Arhgap39 UTSW 15 76734886 missense probably damaging 0.99
R0549:Arhgap39 UTSW 15 76734886 missense probably damaging 0.99
R0551:Arhgap39 UTSW 15 76734886 missense probably damaging 0.99
R1054:Arhgap39 UTSW 15 76751559 missense probably benign
R1830:Arhgap39 UTSW 15 76735183 missense probably damaging 1.00
R2421:Arhgap39 UTSW 15 76725146 missense probably damaging 1.00
R2497:Arhgap39 UTSW 15 76725385 missense probably damaging 1.00
R3909:Arhgap39 UTSW 15 76751888 missense probably benign 0.03
R4410:Arhgap39 UTSW 15 76725512 unclassified probably benign
R4626:Arhgap39 UTSW 15 76737637 missense possibly damaging 0.92
R4790:Arhgap39 UTSW 15 76726731 missense possibly damaging 0.51
R4792:Arhgap39 UTSW 15 76741517 missense possibly damaging 0.92
R4911:Arhgap39 UTSW 15 76737805 missense probably damaging 1.00
R5225:Arhgap39 UTSW 15 76725515 unclassified probably benign
R5417:Arhgap39 UTSW 15 76735101 missense possibly damaging 0.80
R5443:Arhgap39 UTSW 15 76797925 intron probably benign
R5521:Arhgap39 UTSW 15 76765494 missense possibly damaging 0.66
R5686:Arhgap39 UTSW 15 76726633 missense probably damaging 1.00
R5747:Arhgap39 UTSW 15 76741535 missense possibly damaging 0.68
R5785:Arhgap39 UTSW 15 76737418 missense probably benign
R5879:Arhgap39 UTSW 15 76751807 missense probably damaging 1.00
R6035:Arhgap39 UTSW 15 76737224 nonsense probably null
R6035:Arhgap39 UTSW 15 76737224 nonsense probably null
R6049:Arhgap39 UTSW 15 76727401 critical splice donor site probably null
R6143:Arhgap39 UTSW 15 76730406 nonsense probably null
R6232:Arhgap39 UTSW 15 76736512 missense probably damaging 1.00
R6276:Arhgap39 UTSW 15 76737536 missense probably benign 0.06
R6277:Arhgap39 UTSW 15 76735137 missense probably damaging 1.00
R6305:Arhgap39 UTSW 15 76737702 missense probably benign 0.31
R6587:Arhgap39 UTSW 15 76737499 missense probably damaging 1.00
R7153:Arhgap39 UTSW 15 76765491 missense probably benign 0.09
Posted On2015-04-16