Incidental Mutation 'IGL00848:Rhbdd1'
ID13816
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: 0.200) question?
Stock #IGL00848
Quality Score
Status
Chromosome1
Chromosomal Location82316452-82445366 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82340444 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 16 (L16P)
Ref Sequence ENSEMBL: ENSMUSP00000137770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027322] [ENSMUST00000140020]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027322
AA Change: L16P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: L16P

DomainStartEndE-ValueType
Pfam:Rhomboid 60 213 6.1e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140020
AA Change: L16P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: L16P

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cep112 A G 11: 108,472,060 D202G probably damaging Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Copz1 T A 15: 103,298,749 probably benign Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Glt8d2 C T 10: 82,662,165 probably null Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Mtpap C T 18: 4,380,717 H132Y probably benign Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rps11 C T 7: 45,123,501 R22Q probably benign Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Vps45 G T 3: 96,056,973 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Zfp704 A T 3: 9,565,239 S21T possibly damaging Het
Other mutations in Rhbdd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-12-06