Incidental Mutation 'IGL02654:Rhbdd1'
ID302264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhbdd1
Ensembl Gene ENSMUSG00000026142
Gene Namerhomboid domain containing 1
Synonyms4930418P06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL02654
Quality Score
Status
Chromosome1
Chromosomal Location82316452-82445366 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 82342783 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 163 (V163F)
Ref Sequence ENSEMBL: ENSMUSP00000137770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027322] [ENSMUST00000140020]
Predicted Effect probably benign
Transcript: ENSMUST00000027322
AA Change: V163F

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: V163F

DomainStartEndE-ValueType
Pfam:Rhomboid 60 213 6.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140020
AA Change: V163F

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: V163F

DomainStartEndE-ValueType
Pfam:Rhomboid 59 213 2.7e-20 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,927,826 I468T possibly damaging Het
Anxa13 A G 15: 58,342,001 noncoding transcript Het
Arhgef33 A G 17: 80,370,311 Y429C probably damaging Het
BC024978 A G 7: 27,203,873 E289G probably damaging Het
Bdh1 T C 16: 31,456,615 probably benign Het
C77080 C T 4: 129,222,319 G851R probably damaging Het
Dennd4a A G 9: 64,910,191 probably benign Het
Dld G T 12: 31,333,917 H396N probably benign Het
Dsg1b T C 18: 20,409,262 V942A probably damaging Het
Eln A T 5: 134,717,054 probably benign Het
Fat3 G A 9: 15,996,975 T2577M possibly damaging Het
Gad1 A T 2: 70,572,781 K73M possibly damaging Het
Gipc1 T C 8: 83,663,151 V253A probably damaging Het
Gm21671 T A 5: 25,953,207 H49L probably benign Het
Gtpbp10 A C 5: 5,543,372 probably benign Het
Hgf A T 5: 16,561,051 T62S probably benign Het
Hivep1 T C 13: 42,157,685 S1134P probably damaging Het
Hnrnpc A G 14: 52,084,117 L80S probably damaging Het
Kif20a G A 18: 34,632,023 R770H probably damaging Het
Lcat T C 8: 105,939,769 T374A possibly damaging Het
Mlana A G 19: 29,704,618 probably null Het
Nynrin A G 14: 55,863,259 I169V possibly damaging Het
Olfr697 A T 7: 106,741,348 Y195* probably null Het
P3h3 A G 6: 124,845,265 V585A possibly damaging Het
Pcdhb17 T A 18: 37,486,561 M468K probably benign Het
Prl8a2 T G 13: 27,352,797 I134S possibly damaging Het
Rev3l T C 10: 39,862,734 V2828A probably damaging Het
Rrp1 A G 10: 78,412,939 V5A probably benign Het
Sephs1 A T 2: 4,884,555 N48I probably benign Het
Vmn1r71 A G 7: 10,748,315 Y149H probably benign Het
Wiz T C 17: 32,359,350 D396G probably damaging Het
Xirp2 A G 2: 67,514,671 S2419G possibly damaging Het
Zfp128 A G 7: 12,884,679 T35A possibly damaging Het
Zmym2 T A 14: 56,911,315 F362Y probably damaging Het
Other mutations in Rhbdd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Rhbdd1 APN 1 82340444 missense possibly damaging 0.94
IGL00957:Rhbdd1 APN 1 82340641 missense probably damaging 1.00
IGL01771:Rhbdd1 APN 1 82377592 missense probably benign 0.41
IGL01980:Rhbdd1 APN 1 82340834 splice site probably benign
R0167:Rhbdd1 UTSW 1 82342784 missense probably benign 0.00
R2005:Rhbdd1 UTSW 1 82340810 missense probably benign 0.00
R2875:Rhbdd1 UTSW 1 82368369 missense probably benign 0.02
R2876:Rhbdd1 UTSW 1 82368369 missense probably benign 0.02
R4058:Rhbdd1 UTSW 1 82370381 missense possibly damaging 0.80
R5572:Rhbdd1 UTSW 1 82340810 missense possibly damaging 0.52
R6526:Rhbdd1 UTSW 1 82340659 missense probably benign
Posted On2015-04-16