Incidental Mutation 'IGL00957:Rhbdd1'
ID26707
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: 0.100) question?
Stock #IGL00957
Quality Score
Status
Chromosome1
Chromosomal Location82316452-82445366 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82340641 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 82 (Y82H)
Ref Sequence ENSEMBL: ENSMUSP00000137770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027322] [ENSMUST00000140020]
Predicted Effect probably damaging
Transcript: ENSMUST00000027322
AA Change: Y82H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: Y82H

DomainStartEndE-ValueType
Pfam:Rhomboid 60 213 6.1e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140020
AA Change: Y82H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: Y82H

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T A 1: 63,534,311 I246N probably benign Het
Adora1 A G 1: 134,203,213 L240P probably damaging Het
Ago4 C T 4: 126,517,133 V188I probably benign Het
Ccdc138 T A 10: 58,529,016 probably benign Het
Cpeb4 A G 11: 31,873,204 Y306C probably damaging Het
Ctsz T C 2: 174,427,978 E272G probably damaging Het
Dst G A 1: 34,228,407 V5155I probably benign Het
Fabp12 C T 3: 10,250,213 probably null Het
Fam208b T A 13: 3,577,101 I950F possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hpcal1 G A 12: 17,787,590 E142K probably benign Het
Hspa4 G A 11: 53,280,687 T230I probably benign Het
Htt T C 5: 34,806,724 V387A probably benign Het
Loxl3 A G 6: 83,048,766 probably benign Het
Lrrc30 G A 17: 67,632,504 S27L probably benign Het
Mtpn A G 6: 35,539,612 probably benign Het
Mug2 A G 6: 122,040,654 Y450C probably damaging Het
Ncl A G 1: 86,356,369 probably null Het
Olfr1056 A T 2: 86,356,133 V83E possibly damaging Het
Psmd3 T A 11: 98,685,568 S99T probably benign Het
Rb1cc1 G A 1: 6,249,539 A1061T probably damaging Het
Slc5a6 T C 5: 31,038,935 probably benign Het
Sox6 T C 7: 115,777,092 K135R probably damaging Het
Tbx21 A G 11: 97,099,094 V424A probably benign Het
Trpa1 A T 1: 14,881,668 Y936N probably damaging Het
Ttn G T 2: 76,738,936 D25458E probably damaging Het
Zfp629 C T 7: 127,612,724 V6M probably damaging Het
Other mutations in Rhbdd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Rhbdd1 APN 1 82340444 missense possibly damaging 0.94
IGL01771:Rhbdd1 APN 1 82377592 missense probably benign 0.41
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 On2013-04-17