Incidental Mutation 'IGL02134:Arhgef39'
ID281252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef39
Ensembl Gene ENSMUSG00000051517
Gene NameRho guanine nucleotide exchange factor (GEF) 39
SynonymsE130306D19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL02134
Quality Score
Status
Chromosome4
Chromosomal Location43496142-43499695 bp(-) (GRCm38)
Type of Mutationsplice site (1657 bp from exon)
DNA Base Change (assembly) C to A at 43497578 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030181] [ENSMUST00000054538] [ENSMUST00000107922]
Predicted Effect probably null
Transcript: ENSMUST00000030181
SMART Domains Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
coiled coil region 97 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054538
SMART Domains Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517

DomainStartEndE-ValueType
RhoGEF 26 196 4.92e-31 SMART
PH 228 333 5.71e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107922
SMART Domains Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
coiled coil region 97 132 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129378
Predicted Effect probably benign
Transcript: ENSMUST00000136005
SMART Domains Protein: ENSMUSP00000118144
Gene: ENSMUSG00000051517

DomainStartEndE-ValueType
Pfam:RhoGEF 53 153 2.5e-18 PFAM
PH 154 256 1.97e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226420
Predicted Effect probably benign
Transcript: ENSMUST00000152134
SMART Domains Protein: ENSMUSP00000119911
Gene: ENSMUSG00000051517

DomainStartEndE-ValueType
Blast:PH 2 82 7e-38 BLAST
SCOP:d1kz7a2 2 88 4e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,669,690 N168S probably damaging Het
Angptl3 A T 4: 99,031,112 R36S probably damaging Het
Ap5z1 T C 5: 142,474,459 F514L probably benign Het
Aste1 A G 9: 105,397,844 S11G probably damaging Het
Cadm4 T C 7: 24,499,561 V87A probably benign Het
Cd177 A G 7: 24,752,352 I413T probably benign Het
Col5a2 A G 1: 45,391,070 probably null Het
Dera C T 6: 137,830,271 A239V probably damaging Het
Ecm1 T C 3: 95,736,187 E283G probably damaging Het
Eml6 G T 11: 29,759,066 H24N probably benign Het
Etl4 A G 2: 20,806,429 K1425E possibly damaging Het
Fgd3 G A 13: 49,296,749 S8L possibly damaging Het
Gli1 T C 10: 127,336,500 E228G probably benign Het
Hivep3 A G 4: 120,133,574 probably benign Het
Iqcc A G 4: 129,619,025 S11P probably damaging Het
Itpkc G A 7: 27,227,875 Q205* probably null Het
Jmjd1c T A 10: 67,220,392 S530R possibly damaging Het
Kcnq1 A G 7: 143,183,716 H257R possibly damaging Het
Kcnt2 G A 1: 140,376,383 V164I probably benign Het
Lgr5 T C 10: 115,452,858 H603R possibly damaging Het
Lrp2 T C 2: 69,513,379 probably null Het
Lrrn2 A G 1: 132,937,817 M207V possibly damaging Het
Miip A G 4: 147,865,278 probably benign Het
Mrps35 T C 6: 147,048,310 probably benign Het
Nuf2 A T 1: 169,513,500 M184K probably benign Het
Olfr113 C T 17: 37,575,358 E22K probably benign Het
Olfr1234 A T 2: 89,362,828 N200K probably damaging Het
Olfr1494 C A 19: 13,749,801 R232S probably benign Het
Olfr452 A G 6: 42,790,464 T142A probably benign Het
Olfr951 A T 9: 39,394,534 I248F probably damaging Het
Os9 T C 10: 127,120,992 I42V possibly damaging Het
Rapgef4 A C 2: 72,180,061 Q177P probably damaging Het
Rhpn2 T C 7: 35,371,111 probably benign Het
Scn5a T C 9: 119,485,892 R1916G probably damaging Het
Serpine1 T A 5: 137,067,035 probably benign Het
Snd1 C T 6: 28,880,279 P684L possibly damaging Het
Tgds T C 14: 118,113,122 N340D probably benign Het
Trpc4 A T 3: 54,315,654 Y706F possibly damaging Het
Ttn T A 2: 76,753,822 D22314V probably damaging Het
Utrn G A 10: 12,643,419 T2263I probably damaging Het
Vmn1r11 A T 6: 57,138,037 T229S possibly damaging Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Zfp219 A G 14: 52,009,301 L78P probably damaging Het
Zfp629 T A 7: 127,611,870 T256S probably benign Het
Other mutations in Arhgef39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Arhgef39 APN 4 43499502 missense probably damaging 1.00
IGL01674:Arhgef39 APN 4 43497590 missense probably damaging 0.98
R0384:Arhgef39 UTSW 4 43498613 missense probably damaging 1.00
R0781:Arhgef39 UTSW 4 43496834 missense probably benign 0.00
R1110:Arhgef39 UTSW 4 43496834 missense probably benign 0.00
R1957:Arhgef39 UTSW 4 43499309 missense probably damaging 1.00
R1966:Arhgef39 UTSW 4 43496710 missense probably benign 0.00
R3087:Arhgef39 UTSW 4 43497581 critical splice donor site probably null
R4289:Arhgef39 UTSW 4 43497353 unclassified probably benign
R4426:Arhgef39 UTSW 4 43497112 missense possibly damaging 0.53
R6481:Arhgef39 UTSW 4 43498580 splice site probably null
R7105:Arhgef39 UTSW 4 43498913 missense possibly damaging 0.55
R7394:Arhgef39 UTSW 4 43499532 missense possibly damaging 0.90
R8187:Arhgef39 UTSW 4 43498999 missense probably damaging 1.00
Posted On2015-04-16