Incidental Mutation 'IGL00780:Rdh16f2'
ID9244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh16f2
Ensembl Gene ENSMUSG00000074639
Gene NameRDH16 family member 2
SynonymsBC089597
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL00780
Quality Score
Status
Chromosome10
Chromosomal Location127866474-127877317 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 127875092 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000089691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092058]
Predicted Effect probably null
Transcript: ENSMUST00000092058
SMART Domains Protein: ENSMUSP00000089691
Gene: ENSMUSG00000074639

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 221 4.8e-44 PFAM
Pfam:KR 31 206 4e-7 PFAM
Pfam:DUF1776 43 304 6.8e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,422,367 T355A probably damaging Het
Abi3bp A G 16: 56,602,805 D440G probably null Het
Acvrl1 T A 15: 101,137,367 F258Y probably damaging Het
Ano1 A G 7: 144,655,630 S278P probably damaging Het
AW146154 T C 7: 41,480,459 Y411C probably damaging Het
Blnk T A 19: 40,934,446 K412M probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Dach1 A T 14: 97,901,422 N528K possibly damaging Het
Dag1 A T 9: 108,209,619 W108R probably damaging Het
Fbn2 T C 18: 58,095,988 T717A probably damaging Het
Fnbp1l T C 3: 122,549,249 D394G possibly damaging Het
Gaa T A 11: 119,274,291 probably null Het
Gpr158 A T 2: 21,826,818 K910* probably null Het
Grb14 G A 2: 64,914,718 P99S probably damaging Het
Gtf2h2 T C 13: 100,479,221 D264G probably benign Het
Heatr3 A G 8: 88,170,940 I667V probably benign Het
Hsp90ab1 T C 17: 45,569,564 N407S probably damaging Het
Htr2a A T 14: 74,706,205 L408F possibly damaging Het
Itgb5 G A 16: 33,884,975 V212I probably damaging Het
Kmt2c G A 5: 25,311,051 T2598I probably benign Het
Lcorl T C 5: 45,747,295 N137S probably damaging Het
Lef1 T C 3: 131,193,130 F212L possibly damaging Het
Map2k5 T C 9: 63,281,077 probably benign Het
Med15 G A 16: 17,653,487 T642I probably damaging Het
Nasp C A 4: 116,603,999 E274* probably null Het
Nup210l A T 3: 90,190,849 probably benign Het
Pgghg T C 7: 140,945,351 probably null Het
Plpp1 A G 13: 112,851,506 I54M probably damaging Het
Poldip3 C T 15: 83,138,479 G35R probably damaging Het
Ppig A T 2: 69,732,924 E81D possibly damaging Het
Ptpn21 G T 12: 98,680,371 T999K probably damaging Het
Rad9b T C 5: 122,344,247 I142V probably benign Het
Ralgps1 A T 2: 33,273,627 H139Q probably damaging Het
Sema3d G A 5: 12,524,326 R265Q probably damaging Het
Svs1 A G 6: 48,987,739 D227G probably damaging Het
Tdp1 T C 12: 99,893,648 V198A possibly damaging Het
Trim43c A T 9: 88,841,856 D145V probably benign Het
Trpc4 C T 3: 54,302,175 P654S probably damaging Het
Yy1 T G 12: 108,815,537 I376S probably damaging Het
Zfp773 T A 7: 7,133,114 Q161L probably benign Het
Other mutations in Rdh16f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Rdh16f2 APN 10 127866664 missense probably damaging 1.00
R1448:Rdh16f2 UTSW 10 127876925 missense probably benign
R1757:Rdh16f2 UTSW 10 127876896 missense probably benign 0.01
R2245:Rdh16f2 UTSW 10 127876276 missense probably damaging 1.00
R2484:Rdh16f2 UTSW 10 127875077 missense probably damaging 1.00
R3613:Rdh16f2 UTSW 10 127874939 missense probably benign 0.38
R4828:Rdh16f2 UTSW 10 127874954 missense probably benign 0.09
R5109:Rdh16f2 UTSW 10 127866803 missense probably damaging 1.00
R5153:Rdh16f2 UTSW 10 127876255 missense possibly damaging 0.96
R5420:Rdh16f2 UTSW 10 127877074 missense possibly damaging 0.94
R5448:Rdh16f2 UTSW 10 127877063 missense probably benign 0.03
R5492:Rdh16f2 UTSW 10 127866754 nonsense probably null
R5769:Rdh16f2 UTSW 10 127876889 missense probably benign 0.01
R5863:Rdh16f2 UTSW 10 127876387 missense probably benign
R6003:Rdh16f2 UTSW 10 127876332 missense probably benign 0.02
R6063:Rdh16f2 UTSW 10 127876874 missense probably benign 0.01
X0023:Rdh16f2 UTSW 10 127866806 missense probably damaging 1.00
Posted On2012-12-06