Incidental Mutation 'IGL02508:Arhgap39'
ID 296467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap39
Ensembl Gene ENSMUSG00000033697
Gene Name Rho GTPase activating protein 39
Synonyms D15Wsu169e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # IGL02508
Quality Score
Status
Chromosome 15
Chromosomal Location 76608183-76702366 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 76609184 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P59281
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: ENSMUST00000231059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230559
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 116,870,764 (GRCm39) noncoding transcript Het
Adgrv1 A T 13: 81,583,675 (GRCm39) probably benign Het
AI429214 T G 8: 37,461,240 (GRCm39) D129E probably benign Het
Alx1 G A 10: 102,858,054 (GRCm39) T215M probably damaging Het
Brca2 T C 5: 150,466,773 (GRCm39) V2179A possibly damaging Het
Cdcp3 A G 7: 130,824,559 (GRCm39) E91G probably damaging Het
Celsr1 G A 15: 85,914,818 (GRCm39) Q1052* probably null Het
Chd5 A G 4: 152,447,481 (GRCm39) E510G probably damaging Het
Cntnap2 A G 6: 46,211,254 (GRCm39) D556G probably damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Cyp4a31 A T 4: 115,428,261 (GRCm39) Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 (GRCm39) probably null Het
Dcc C A 18: 71,503,773 (GRCm39) A942S probably benign Het
Dyrk1a A T 16: 94,486,042 (GRCm39) D463V probably damaging Het
Eln T A 5: 134,733,422 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,761,803 (GRCm39) probably null Het
Fndc3b T C 3: 27,512,900 (GRCm39) Y742C probably damaging Het
Furin G A 7: 80,042,269 (GRCm39) T442I probably benign Het
Gli1 T C 10: 127,172,961 (GRCm39) Q155R probably benign Het
Glra3 A G 8: 56,538,179 (GRCm39) E218G probably benign Het
Grb10 C T 11: 11,896,767 (GRCm39) V236M probably damaging Het
Grhl2 T C 15: 37,310,009 (GRCm39) probably benign Het
Hgfac A T 5: 35,204,564 (GRCm39) M579L probably damaging Het
Ifi202b A T 1: 173,802,338 (GRCm39) D165E probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 C T 2: 69,333,774 (GRCm39) G1489D probably benign Het
Lrrtm1 A T 6: 77,221,574 (GRCm39) S344C probably damaging Het
Lzts1 G A 8: 69,593,500 (GRCm39) R36* probably null Het
Mapkap1 T C 2: 34,408,681 (GRCm39) probably benign Het
Meis3 T A 7: 15,912,722 (GRCm39) probably null Het
Mtmr14 T A 6: 113,217,267 (GRCm39) C60S probably damaging Het
Nfkb1 T A 3: 135,296,579 (GRCm39) Y789F probably damaging Het
Nup54 G A 5: 92,565,398 (GRCm39) Q440* probably null Het
Ogdhl T G 14: 32,067,131 (GRCm39) M861R probably damaging Het
Or13c7b T C 4: 43,821,289 (GRCm39) E24G possibly damaging Het
Or4d10 G T 19: 12,051,251 (GRCm39) H248Q possibly damaging Het
Or4k42 C T 2: 111,320,180 (GRCm39) A108T probably damaging Het
Or52w1 A T 7: 105,017,743 (GRCm39) H61L possibly damaging Het
Or6c69b A G 10: 129,626,660 (GRCm39) V266A probably benign Het
Pde6c A G 19: 38,145,948 (GRCm39) K412R probably benign Het
Pex5l T C 3: 33,047,051 (GRCm39) probably benign Het
Pigr A T 1: 130,778,595 (GRCm39) I760L probably benign Het
Pramel28 T C 4: 143,691,590 (GRCm39) N378D probably benign Het
Prr14l G A 5: 32,988,286 (GRCm39) A403V probably benign Het
Prrt3 T C 6: 113,471,268 (GRCm39) D968G probably damaging Het
Psmc5 T C 11: 106,153,869 (GRCm39) I401T possibly damaging Het
Ralyl T A 3: 14,172,332 (GRCm39) probably benign Het
Samd9l T C 6: 3,374,798 (GRCm39) E821G probably damaging Het
Serpinb3a T A 1: 106,973,802 (GRCm39) I370F probably damaging Het
Setd1a A G 7: 127,396,870 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,951,615 (GRCm39) F381L probably benign Het
Strada A G 11: 106,059,182 (GRCm39) Y199H probably benign Het
Stxbp2 T C 8: 3,682,531 (GRCm39) I40T probably damaging Het
Tbx3 T C 5: 119,816,877 (GRCm39) V358A possibly damaging Het
Tenm3 A G 8: 48,752,674 (GRCm39) L896S probably benign Het
Tmem132a A G 19: 10,835,882 (GRCm39) S883P probably damaging Het
Trio A G 15: 27,818,190 (GRCm39) I496T possibly damaging Het
Unc79 C T 12: 103,078,535 (GRCm39) R1548W probably damaging Het
Unc79 T C 12: 103,078,277 (GRCm39) probably benign Het
Vmn2r9 T C 5: 108,996,067 (GRCm39) M194V possibly damaging Het
Other mutations in Arhgap39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Arhgap39 APN 15 76,622,015 (GRCm39) splice site probably benign
IGL01586:Arhgap39 APN 15 76,614,638 (GRCm39) missense probably benign 0.16
IGL01693:Arhgap39 APN 15 76,610,167 (GRCm39) missense probably null 1.00
IGL02017:Arhgap39 APN 15 76,621,237 (GRCm39) missense probably damaging 0.98
IGL03333:Arhgap39 APN 15 76,610,932 (GRCm39) missense probably benign 0.05
R0328:Arhgap39 UTSW 15 76,636,152 (GRCm39) splice site probably benign
R0432:Arhgap39 UTSW 15 76,619,086 (GRCm39) missense probably damaging 0.99
R0479:Arhgap39 UTSW 15 76,619,086 (GRCm39) missense probably damaging 0.99
R0549:Arhgap39 UTSW 15 76,619,086 (GRCm39) missense probably damaging 0.99
R0551:Arhgap39 UTSW 15 76,619,086 (GRCm39) missense probably damaging 0.99
R1054:Arhgap39 UTSW 15 76,635,759 (GRCm39) missense probably benign
R1830:Arhgap39 UTSW 15 76,619,383 (GRCm39) missense probably damaging 1.00
R2421:Arhgap39 UTSW 15 76,609,346 (GRCm39) missense probably damaging 1.00
R2497:Arhgap39 UTSW 15 76,609,585 (GRCm39) missense probably damaging 1.00
R3909:Arhgap39 UTSW 15 76,636,088 (GRCm39) missense probably benign 0.03
R4410:Arhgap39 UTSW 15 76,609,712 (GRCm39) unclassified probably benign
R4626:Arhgap39 UTSW 15 76,621,837 (GRCm39) missense possibly damaging 0.92
R4790:Arhgap39 UTSW 15 76,610,931 (GRCm39) missense possibly damaging 0.51
R4792:Arhgap39 UTSW 15 76,625,717 (GRCm39) missense possibly damaging 0.92
R4911:Arhgap39 UTSW 15 76,622,005 (GRCm39) missense probably damaging 1.00
R5225:Arhgap39 UTSW 15 76,609,715 (GRCm39) unclassified probably benign
R5417:Arhgap39 UTSW 15 76,619,301 (GRCm39) missense possibly damaging 0.80
R5443:Arhgap39 UTSW 15 76,682,125 (GRCm39) intron probably benign
R5521:Arhgap39 UTSW 15 76,649,694 (GRCm39) missense possibly damaging 0.66
R5686:Arhgap39 UTSW 15 76,610,833 (GRCm39) missense probably damaging 1.00
R5747:Arhgap39 UTSW 15 76,625,735 (GRCm39) missense possibly damaging 0.68
R5785:Arhgap39 UTSW 15 76,621,618 (GRCm39) missense probably benign
R5879:Arhgap39 UTSW 15 76,636,007 (GRCm39) missense probably damaging 1.00
R6035:Arhgap39 UTSW 15 76,621,424 (GRCm39) nonsense probably null
R6035:Arhgap39 UTSW 15 76,621,424 (GRCm39) nonsense probably null
R6049:Arhgap39 UTSW 15 76,611,601 (GRCm39) critical splice donor site probably null
R6143:Arhgap39 UTSW 15 76,614,606 (GRCm39) nonsense probably null
R6232:Arhgap39 UTSW 15 76,620,712 (GRCm39) missense probably damaging 1.00
R6276:Arhgap39 UTSW 15 76,621,736 (GRCm39) missense probably benign 0.06
R6277:Arhgap39 UTSW 15 76,619,337 (GRCm39) missense probably damaging 1.00
R6305:Arhgap39 UTSW 15 76,621,902 (GRCm39) missense probably benign 0.31
R6587:Arhgap39 UTSW 15 76,621,699 (GRCm39) missense probably damaging 1.00
R7153:Arhgap39 UTSW 15 76,649,691 (GRCm39) missense probably benign 0.09
R7447:Arhgap39 UTSW 15 76,649,797 (GRCm39) start gained probably benign
R7658:Arhgap39 UTSW 15 76,621,617 (GRCm39) missense probably benign 0.03
R8071:Arhgap39 UTSW 15 76,621,702 (GRCm39) missense probably benign
R8269:Arhgap39 UTSW 15 76,635,942 (GRCm39) missense probably benign 0.35
R8368:Arhgap39 UTSW 15 76,619,455 (GRCm39) missense probably damaging 1.00
R9124:Arhgap39 UTSW 15 76,619,467 (GRCm39) missense probably damaging 1.00
R9333:Arhgap39 UTSW 15 76,619,325 (GRCm39) missense probably damaging 1.00
R9438:Arhgap39 UTSW 15 76,636,118 (GRCm39) missense probably damaging 0.96
R9602:Arhgap39 UTSW 15 76,610,954 (GRCm39) missense probably damaging 0.98
R9615:Arhgap39 UTSW 15 76,621,438 (GRCm39) missense probably benign 0.02
R9700:Arhgap39 UTSW 15 76,611,617 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16