Incidental Mutation 'IGL03031:Arhgef38'
ID 408426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef38
Ensembl Gene ENSMUSG00000040969
Gene Name Rho guanine nucleotide exchange factor (GEF) 38
Synonyms D630013G24Rik, 9130221D24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03031
Quality Score
Status
Chromosome 3
Chromosomal Location 133112278-133234949 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133132067 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 118 (D118N)
Ref Sequence ENSEMBL: ENSMUSP00000054558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054105] [ENSMUST00000147041]
AlphaFold Q80VK6
Predicted Effect possibly damaging
Transcript: ENSMUST00000054105
AA Change: D118N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969
AA Change: D118N

DomainStartEndE-ValueType
SH3 1 60 5.56e-1 SMART
low complexity region 95 106 N/A INTRINSIC
SH3 126 189 8.2e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000147041
AA Change: D701N

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: D701N

DomainStartEndE-ValueType
low complexity region 34 49 N/A INTRINSIC
RhoGEF 98 284 2.72e-33 SMART
low complexity region 296 312 N/A INTRINSIC
BAR 315 514 4.8e-29 SMART
SH3 584 643 5.56e-1 SMART
low complexity region 678 689 N/A INTRINSIC
SH3 709 768 1.95e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,314,024 D753G probably benign Het
Adat2 T C 10: 13,556,846 probably benign Het
Ahsa2 A G 11: 23,490,426 L275S probably benign Het
Bicra A T 7: 15,975,801 H1097Q probably benign Het
C4b T C 17: 34,731,130 T1389A possibly damaging Het
Cd180 A G 13: 102,705,027 S194G probably benign Het
Chgb C A 2: 132,793,514 Q459K probably benign Het
Clvs1 G T 4: 9,449,385 probably benign Het
Cpox G A 16: 58,672,560 G186R probably damaging Het
Cul5 A G 9: 53,642,675 probably benign Het
Epsti1 G A 14: 77,974,581 R249K probably benign Het
Gabrg1 A T 5: 70,794,682 Y90* probably null Het
Gabrp T C 11: 33,554,980 R274G probably damaging Het
Gm597 A G 1: 28,778,583 F123L probably benign Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Gm9825 T C 6: 7,982,857 noncoding transcript Het
Hectd4 C T 5: 121,348,794 T3284M possibly damaging Het
Hoxc9 T C 15: 102,984,090 M245T probably damaging Het
Lpar6 T C 14: 73,239,442 V281A possibly damaging Het
Med18 G T 4: 132,459,613 Q192K possibly damaging Het
Mis18bp1 A G 12: 65,161,930 V3A probably benign Het
Mpped2 G T 2: 106,783,623 probably benign Het
Ms4a10 A G 19: 10,968,671 V32A probably benign Het
Mthfd1l T A 10: 4,018,601 probably null Het
Myh1 A T 11: 67,206,387 Q422L possibly damaging Het
Myo3b A T 2: 70,255,377 Q819L possibly damaging Het
Ncoa1 G A 12: 4,274,818 T921I possibly damaging Het
Olfr807 A G 10: 129,755,369 L27P possibly damaging Het
Olfr894 A C 9: 38,219,065 T81P probably damaging Het
Olfr960 A G 9: 39,623,398 I92V probably damaging Het
Phf3 A G 1: 30,804,653 S1742P probably benign Het
Plxdc2 G A 2: 16,650,232 probably null Het
Poc5 A G 13: 96,401,615 T263A probably benign Het
Prss41 T A 17: 23,842,422 I132F probably damaging Het
Pxylp1 A G 9: 96,825,142 I329T probably benign Het
Rbm27 T C 18: 42,333,399 probably null Het
Rpgrip1l A T 8: 91,260,783 V882E probably damaging Het
Sec16b T C 1: 157,560,799 S579P probably benign Het
Senp7 A G 16: 56,175,886 E776G probably damaging Het
Smc2 A G 4: 52,449,638 I207V probably benign Het
Spats2 A G 15: 99,180,688 T211A probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Syt11 A T 3: 88,748,841 M1K probably null Het
Tacc2 A G 7: 130,623,855 T757A possibly damaging Het
Tecta A C 9: 42,345,493 M1629R probably benign Het
Ufsp2 T A 8: 45,984,100 I101N probably damaging Het
Unc13b T A 4: 43,235,368 C892S probably damaging Het
Ush1c A G 7: 46,224,937 probably benign Het
Vwde A T 6: 13,208,382 V167E probably benign Het
Wdfy4 A G 14: 33,140,651 L588P probably damaging Het
Zfyve1 T C 12: 83,574,821 T267A probably damaging Het
Other mutations in Arhgef38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Arhgef38 APN 3 133132051 missense probably benign 0.05
IGL00533:Arhgef38 APN 3 133116459 nonsense probably null
F5770:Arhgef38 UTSW 3 133149540 missense probably damaging 1.00
PIT4362001:Arhgef38 UTSW 3 133160830 missense
R0050:Arhgef38 UTSW 3 133132196 missense probably damaging 0.99
R0050:Arhgef38 UTSW 3 133132196 missense probably damaging 0.99
R0076:Arhgef38 UTSW 3 133160746 missense possibly damaging 0.52
R0515:Arhgef38 UTSW 3 133149540 missense probably damaging 1.00
R0730:Arhgef38 UTSW 3 133137471 missense probably benign 0.25
R0765:Arhgef38 UTSW 3 133116583 missense probably damaging 1.00
R1054:Arhgef38 UTSW 3 133116465 missense probably damaging 1.00
R1261:Arhgef38 UTSW 3 133160863 missense possibly damaging 0.52
R1568:Arhgef38 UTSW 3 133132464 missense probably damaging 0.98
R1580:Arhgef38 UTSW 3 133133704 missense probably benign 0.24
R1716:Arhgef38 UTSW 3 133140837 missense probably benign 0.35
R1875:Arhgef38 UTSW 3 133133740 critical splice acceptor site probably null
R2118:Arhgef38 UTSW 3 133160753 missense probably benign 0.31
R2119:Arhgef38 UTSW 3 133160753 missense probably benign 0.31
R2122:Arhgef38 UTSW 3 133160753 missense probably benign 0.31
R2417:Arhgef38 UTSW 3 133146473 missense probably damaging 1.00
R3832:Arhgef38 UTSW 3 133206925 missense possibly damaging 0.89
R4657:Arhgef38 UTSW 3 133234681 missense probably damaging 1.00
R4666:Arhgef38 UTSW 3 133140772 critical splice donor site probably null
R4732:Arhgef38 UTSW 3 133132269 nonsense probably null
R4733:Arhgef38 UTSW 3 133132269 nonsense probably null
R5059:Arhgef38 UTSW 3 133137414 missense probably damaging 1.00
R5108:Arhgef38 UTSW 3 133137268 missense probably benign 0.14
R5310:Arhgef38 UTSW 3 133116466 missense probably damaging 0.98
R5820:Arhgef38 UTSW 3 133160799 missense probably benign 0.44
R5987:Arhgef38 UTSW 3 133206958 missense possibly damaging 0.67
R6115:Arhgef38 UTSW 3 133132613 splice site probably null
R6313:Arhgef38 UTSW 3 133234708 missense possibly damaging 0.80
R6339:Arhgef38 UTSW 3 133133662 missense probably benign 0.35
R6356:Arhgef38 UTSW 3 133140877 missense probably benign 0.01
R6648:Arhgef38 UTSW 3 133132475 missense probably damaging 1.00
R7050:Arhgef38 UTSW 3 133133627 start gained probably benign
R7083:Arhgef38 UTSW 3 133132436 missense unknown
R7561:Arhgef38 UTSW 3 133160728 missense
R7769:Arhgef38 UTSW 3 133149622 missense unknown
R8050:Arhgef38 UTSW 3 133137562 nonsense probably null
R8471:Arhgef38 UTSW 3 133234711 missense probably damaging 1.00
R8835:Arhgef38 UTSW 3 133132071 missense unknown
R9151:Arhgef38 UTSW 3 133206945 missense
R9154:Arhgef38 UTSW 3 133132163 missense unknown
R9263:Arhgef38 UTSW 3 133160768 missense
R9367:Arhgef38 UTSW 3 133142237 missense unknown
Z1177:Arhgef38 UTSW 3 133206961 nonsense probably null
Posted On 2016-08-02