Incidental Mutation 'IGL02489:Arhgef37'
ID295540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef37
Ensembl Gene ENSMUSG00000045094
Gene NameRho guanine nucleotide exchange factor (GEF) 37
Synonyms4933429F08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02489
Quality Score
Status
Chromosome18
Chromosomal Location61493794-61536536 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61506469 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 280 (S280P)
Ref Sequence ENSEMBL: ENSMUSP00000130560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171629]
Predicted Effect possibly damaging
Transcript: ENSMUST00000171629
AA Change: S280P

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130560
Gene: ENSMUSG00000045094
AA Change: S280P

DomainStartEndE-ValueType
RhoGEF 34 212 2.62e-35 SMART
Pfam:BAR 311 444 5.6e-10 PFAM
SH3 509 568 8.06e-1 SMART
SH3 606 665 2.56e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,054,215 probably benign Het
Aldh6a1 T C 12: 84,433,972 T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 D426G probably damaging Het
Bicd1 T C 6: 149,513,037 L416P probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpp T C 13: 49,650,118 probably null Het
Col5a2 T C 1: 45,392,811 probably null Het
Ctsa A G 2: 164,838,645 Y402C probably damaging Het
Dnah7a A G 1: 53,647,322 V223A possibly damaging Het
Dnajb3 G T 1: 88,205,310 N123K probably benign Het
Fhad1 G T 4: 141,957,620 N469K probably damaging Het
Fmo3 G T 1: 162,954,287 T499K possibly damaging Het
Gm10100 G A 10: 77,726,811 C109Y probably benign Het
Lrrc27 G T 7: 139,226,061 R214L probably benign Het
Mc5r T A 18: 68,339,526 C319S probably damaging Het
Nwd2 A C 5: 63,805,227 Y718S probably damaging Het
Olfr1097 T G 2: 86,890,995 Y60S probably damaging Het
Ppa1 T A 10: 61,665,444 D163E probably damaging Het
Ptprk G T 10: 28,383,472 G303W probably damaging Het
Rnf182 T C 13: 43,668,303 L110P probably damaging Het
Slc12a2 T C 18: 57,912,002 F659S probably damaging Het
Slc5a3 T A 16: 92,077,705 Y217N possibly damaging Het
Ttc41 G T 10: 86,760,914 E1008* probably null Het
Unc80 T C 1: 66,525,701 M849T probably benign Het
Vmn2r76 A T 7: 86,228,863 I442N probably benign Het
Other mutations in Arhgef37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Arhgef37 APN 18 61523871 missense probably damaging 1.00
IGL00801:Arhgef37 APN 18 61499834 missense probably damaging 1.00
IGL01146:Arhgef37 APN 18 61518010 missense possibly damaging 0.93
IGL02052:Arhgef37 APN 18 61499768 missense probably damaging 1.00
IGL03236:Arhgef37 APN 18 61523826 missense probably damaging 1.00
R0715:Arhgef37 UTSW 18 61508789 missense probably damaging 0.98
R0746:Arhgef37 UTSW 18 61517993 critical splice donor site probably null
R1843:Arhgef37 UTSW 18 61518050 missense probably damaging 0.99
R1934:Arhgef37 UTSW 18 61523943 missense probably benign 0.00
R1980:Arhgef37 UTSW 18 61508696 missense probably damaging 0.98
R2012:Arhgef37 UTSW 18 61504356 missense possibly damaging 0.56
R2237:Arhgef37 UTSW 18 61504406 missense probably damaging 1.00
R3024:Arhgef37 UTSW 18 61501888 missense probably damaging 0.96
R4864:Arhgef37 UTSW 18 61494925 missense probably benign
R4876:Arhgef37 UTSW 18 61498239 nonsense probably null
R5024:Arhgef37 UTSW 18 61506440 missense probably damaging 0.99
R5050:Arhgef37 UTSW 18 61504331 missense probably benign 0.43
R5512:Arhgef37 UTSW 18 61499774 nonsense probably null
R5611:Arhgef37 UTSW 18 61507263 missense probably benign 0.03
R6051:Arhgef37 UTSW 18 61507274 missense probably damaging 0.97
R6488:Arhgef37 UTSW 18 61518052 missense probably benign 0.43
R6612:Arhgef37 UTSW 18 61494881 missense probably benign
R7117:Arhgef37 UTSW 18 61504410 missense probably benign 0.00
R7351:Arhgef37 UTSW 18 61498215 missense possibly damaging 0.93
R7426:Arhgef37 UTSW 18 61504385 missense probably damaging 1.00
R7571:Arhgef37 UTSW 18 61504332 missense probably damaging 0.97
R7992:Arhgef37 UTSW 18 61505756 missense probably benign 0.03
Posted On2015-04-16