Incidental Mutation 'IGL01771:Rhbdd1'
ID153850
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: 0.095) question?
Stock #IGL01771
Quality Score
Status
Chromosome1
Chromosomal Location82316452-82445366 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 82377592 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 248 (D248E)
Ref Sequence ENSEMBL: ENSMUSP00000137770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027322] [ENSMUST00000140020]
Predicted Effect probably benign
Transcript: ENSMUST00000027322
AA Change: D248E

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: D248E

DomainStartEndE-ValueType
Pfam:Rhomboid 60 213 6.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140020
AA Change: D248E

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: D248E

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,940,365 W185R probably damaging Het
Frmd8 A G 19: 5,869,575 L148P probably damaging Het
Gk5 T C 9: 96,177,435 C447R probably damaging Het
Hip1r T A 5: 123,999,543 V704D possibly damaging Het
Kcnj10 C A 1: 172,369,583 H221Q probably benign Het
Klk1b8 A T 7: 43,954,866 I253L probably damaging Het
Olfr1090 C T 2: 86,754,282 C152Y probably benign Het
Olfr204 T C 16: 59,314,528 N293S probably damaging Het
Olfr389 A T 11: 73,776,664 I221N probably damaging Het
Olfr431-ps1 T C 1: 174,051,321 probably benign Het
Olfr51 A G 11: 51,007,766 T265A probably benign Het
Pdp2 A T 8: 104,594,122 Y201F probably benign Het
Ppfia1 A T 7: 144,482,357 I1112K probably benign Het
Ppwd1 A G 13: 104,217,116 I378T probably damaging Het
Sec14l5 T C 16: 5,178,630 probably null Het
Sel1l3 T G 5: 53,121,841 D960A probably damaging Het
Slc35f3 T C 8: 126,389,212 Y293H probably benign Het
Wwc1 A G 11: 35,853,358 probably null Het
Zan T C 5: 137,393,068 N4718S unknown Het
Zfyve16 T C 13: 92,522,172 I410M probably benign 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
IGL01980:Rhbdd1 APN 1 82340834 splice site probably benign
IGL02654:Rhbdd1 APN 1 82342783 missense probably benign 0.16
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 On2014-02-04