Incidental Mutation 'R3087:Arhgef39'
ID 262858
Institutional Source Beutler Lab
Gene Symbol Arhgef39
Ensembl Gene ENSMUSG00000051517
Gene Name Rho guanine nucleotide exchange factor 39
Synonyms E130306D19Rik
MMRRC Submission 040576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R3087 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43496142-43499695 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 43497581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000055293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030181] [ENSMUST00000054538] [ENSMUST00000054538] [ENSMUST00000107922]
AlphaFold Q66JY6
Predicted Effect probably benign
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 null
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: 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 benign
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: ENSMUST00000154905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140005
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
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: ENSMUST00000226420
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 97% (29/30)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 C T 3: 108,664,179 (GRCm39) Q381* probably null Het
Cblif A T 19: 11,737,737 (GRCm39) K383* probably null Het
Ccdc85a G T 11: 28,342,857 (GRCm39) C113* probably null Het
Cdc16 T C 8: 13,809,004 (GRCm39) Y19H probably damaging Het
Ces2e T A 8: 105,657,347 (GRCm39) M289K probably benign Het
Cyp2u1 G A 3: 131,096,676 (GRCm39) A34V probably benign Het
Dkk2 A C 3: 131,791,900 (GRCm39) N36T probably damaging Het
Fam222a A G 5: 114,750,015 (GRCm39) S404G probably damaging Het
Fbll1 A T 11: 35,689,017 (GRCm39) V82E probably damaging Het
Flt3 A G 5: 147,284,856 (GRCm39) S754P probably benign Het
Fmo5 T C 3: 97,549,011 (GRCm39) W220R probably damaging Het
Gm7275 A G 16: 47,894,098 (GRCm39) noncoding transcript Het
Gmeb2 G T 2: 180,897,433 (GRCm39) probably benign Het
Ifi44l T C 3: 151,468,494 (GRCm39) H12R unknown Het
Itsn2 T C 12: 4,716,303 (GRCm39) Y1021H probably damaging Het
Map4 T C 9: 109,882,257 (GRCm39) S374P possibly damaging Het
Map4k4 A T 1: 40,060,242 (GRCm39) probably null Het
Mast4 G T 13: 102,990,434 (GRCm39) probably benign Het
Mdfic T A 6: 15,799,668 (GRCm39) L265H probably damaging Het
Pabpc2 A G 18: 39,907,319 (GRCm39) I195V probably benign Het
Pramel25 A G 4: 143,520,416 (GRCm39) D56G probably benign Het
Prdm1 T C 10: 44,322,823 (GRCm39) Y224C probably damaging Het
Spidr T C 16: 15,786,483 (GRCm39) Y420C probably damaging Het
Tlr6 A T 5: 65,111,668 (GRCm39) M413K probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r11 A C 6: 57,114,691 (GRCm39) K81N possibly damaging Het
Vmn2r107 G A 17: 20,580,607 (GRCm39) E515K probably benign Het
Vstm4 T C 14: 32,614,592 (GRCm39) V178A possibly damaging Het
Other mutations in Arhgef39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Arhgef39 APN 4 43,499,502 (GRCm39) missense probably damaging 1.00
IGL01674:Arhgef39 APN 4 43,497,590 (GRCm39) missense probably damaging 0.98
IGL02134:Arhgef39 APN 4 43,497,578 (GRCm39) splice site probably null
kidd UTSW 4 43,498,913 (GRCm39) missense possibly damaging 0.55
teach UTSW 4 43,498,999 (GRCm39) missense probably damaging 1.00
R0384:Arhgef39 UTSW 4 43,498,613 (GRCm39) missense probably damaging 1.00
R0781:Arhgef39 UTSW 4 43,496,834 (GRCm39) missense probably benign 0.00
R1110:Arhgef39 UTSW 4 43,496,834 (GRCm39) missense probably benign 0.00
R1957:Arhgef39 UTSW 4 43,499,309 (GRCm39) missense probably damaging 1.00
R1966:Arhgef39 UTSW 4 43,496,710 (GRCm39) missense probably benign 0.00
R4289:Arhgef39 UTSW 4 43,497,353 (GRCm39) unclassified probably benign
R4426:Arhgef39 UTSW 4 43,497,112 (GRCm39) missense possibly damaging 0.53
R6481:Arhgef39 UTSW 4 43,498,580 (GRCm39) splice site probably null
R7105:Arhgef39 UTSW 4 43,498,913 (GRCm39) missense possibly damaging 0.55
R7394:Arhgef39 UTSW 4 43,499,532 (GRCm39) missense possibly damaging 0.90
R8187:Arhgef39 UTSW 4 43,498,999 (GRCm39) missense probably damaging 1.00
R8474:Arhgef39 UTSW 4 43,498,015 (GRCm39) missense probably benign 0.00
R8700:Arhgef39 UTSW 4 43,496,715 (GRCm39) missense probably benign
R8972:Arhgef39 UTSW 4 43,497,185 (GRCm39) missense probably benign
R9623:Arhgef39 UTSW 4 43,496,819 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCGGCCTTGAAAATGAGAGC -3'
(R):5'- CCATGTTCTGTTGGAAGTAAGGC -3'

Sequencing Primer
(F):5'- TGTACAGCTCAAGAATCCGTAG -3'
(R):5'- CTGTTGGAAGTAAGGCACTGG -3'
Posted On 2015-02-05