Incidental Mutation 'IGL03211:Rdh7'
ID413296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh7
Ensembl Gene ENSMUSG00000040134
Gene Nameretinol dehydrogenase 7
SynonymsCRAD2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL03211
Quality Score
Status
Chromosome10
Chromosomal Location127884028-127888817 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127887623 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 121 (N121S)
Ref Sequence ENSEMBL: ENSMUSP00000039252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047199]
Predicted Effect probably benign
Transcript: ENSMUST00000047199
AA Change: N121S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000039252
Gene: ENSMUSG00000040134
AA Change: N121S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 220 1.2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130374
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp7 C T 2: 172,872,883 V378I possibly damaging Het
Cd209b G T 8: 3,918,830 probably benign Het
Cilp A T 9: 65,280,175 Q1184L probably benign Het
Cysltr2 A T 14: 73,029,715 M185K possibly damaging Het
Dcaf6 A G 1: 165,422,933 F121L possibly damaging Het
Dnajc8 T A 4: 132,544,737 Y95N possibly damaging Het
Ebf3 A G 7: 137,231,304 V214A probably benign Het
Elavl3 A G 9: 22,018,678 V310A probably damaging Het
Emc2 C T 15: 43,507,672 R131* probably null Het
Hcn4 G A 9: 58,858,151 V639M unknown Het
Kif21a T G 15: 90,997,963 D46A possibly damaging Het
Kitl T C 10: 100,080,859 S175P probably benign Het
Klhl32 C T 4: 24,792,616 probably null Het
Plcg1 C T 2: 160,759,691 T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 H666R probably damaging Het
Rap1gap G A 4: 137,715,846 probably null Het
Ric8b T A 10: 85,001,793 I488N probably damaging Het
Slc38a2 A T 15: 96,698,272 probably null Het
Slc9a9 G A 9: 95,137,990 probably benign Het
Tk2 T A 8: 104,243,441 I64F probably damaging Het
Virma G A 4: 11,548,770 W1776* probably null Het
Vrk1 C T 12: 106,036,588 A15V probably benign Het
Wdfy3 T C 5: 101,844,912 probably benign Het
Wfdc10 T C 2: 164,657,252 V94A probably benign Het
Zfp780b A T 7: 27,963,175 C652S possibly damaging Het
Other mutations in Rdh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02098:Rdh7 APN 10 127884738 missense probably benign
IGL02727:Rdh7 APN 10 127887618 missense probably damaging 1.00
R0315:Rdh7 UTSW 10 127888396 missense possibly damaging 0.67
R0394:Rdh7 UTSW 10 127884670 missense probably benign 0.03
R0669:Rdh7 UTSW 10 127884729 missense probably benign
R1662:Rdh7 UTSW 10 127888612 start codon destroyed probably null 1.00
R1735:Rdh7 UTSW 10 127884585 missense probably benign 0.00
R1778:Rdh7 UTSW 10 127884721 missense probably benign 0.03
R2191:Rdh7 UTSW 10 127888598 missense probably benign 0.04
R2268:Rdh7 UTSW 10 127884661 missense probably benign 0.01
R4240:Rdh7 UTSW 10 127885802 missense probably benign 0.00
R4817:Rdh7 UTSW 10 127885762 missense probably benign
R4887:Rdh7 UTSW 10 127885721 missense probably benign 0.00
R4970:Rdh7 UTSW 10 127885822 missense probably benign 0.00
R6463:Rdh7 UTSW 10 127885781 missense probably benign 0.33
R6615:Rdh7 UTSW 10 127884622 missense probably damaging 0.98
R6835:Rdh7 UTSW 10 127884739 missense probably benign
R6854:Rdh7 UTSW 10 127888381 missense probably benign 0.35
R7172:Rdh7 UTSW 10 127888349 missense possibly damaging 0.94
R8129:Rdh7 UTSW 10 127887501 missense probably benign 0.16
R8186:Rdh7 UTSW 10 127887415 critical splice donor site probably null
R8430:Rdh7 UTSW 10 127887626 missense probably benign 0.00
Posted On2016-08-02