Incidental Mutation 'IGL01565:Rdh19'
ID90947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh19
Ensembl Gene ENSMUSG00000054052
Gene Nameretinol dehydrogenase 19
SynonymsRDH-S, Rdhs
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01565
Quality Score
Status
Chromosome10
Chromosomal Location127849928-127861176 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 127859595 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 226 (M226R)
Ref Sequence ENSEMBL: ENSMUSP00000076735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077530]
Predicted Effect probably benign
Transcript: ENSMUST00000077530
AA Change: M226R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076735
Gene: ENSMUSG00000054052
AA Change: M226R

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 223 1.8e-43 PFAM
Pfam:DUF1776 43 304 1.1e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,603,360 T36A probably damaging Het
Ankrd35 A G 3: 96,684,785 M796V probably damaging Het
Brpf1 A T 6: 113,316,650 Q560L probably damaging Het
Dbil5 T G 11: 76,218,265 probably benign Het
Dnah9 T C 11: 66,033,829 K2200E possibly damaging Het
Gtf2i T C 5: 134,255,913 I471V probably damaging Het
Has3 T A 8: 106,874,445 W180R probably benign Het
Lrfn1 T C 7: 28,458,769 C38R probably damaging Het
Lrsam1 C T 2: 32,936,495 A455T probably damaging Het
Mettl2 C A 11: 105,126,538 D14E probably benign Het
Mocs1 G A 17: 49,452,320 R364Q probably benign Het
Ndst2 A T 14: 20,728,206 V435E probably damaging Het
Pi4ka A T 16: 17,389,442 probably benign Het
Pigr A C 1: 130,844,474 D143A possibly damaging Het
Polq A C 16: 37,013,113 N56T probably benign Het
Prmt7 T G 8: 106,250,409 D584E probably damaging Het
R3hdm1 A T 1: 128,186,816 Q511H probably damaging Het
Rbm33 T C 5: 28,391,079 probably benign Het
Rock2 G A 12: 16,953,317 D386N possibly damaging Het
Slc7a2 A G 8: 40,899,238 T96A possibly damaging Het
Spata2 A G 2: 167,484,294 S202P probably damaging Het
Swsap1 T A 9: 21,957,228 D265E possibly damaging Het
Tdrd3 A T 14: 87,472,232 I117L probably benign Het
Ticrr A G 7: 79,694,548 D1387G probably benign Het
Tnfaip6 A G 2: 52,055,834 S231G probably damaging Het
Trim50 T A 5: 135,367,501 D434E probably benign Het
Tyw5 T C 1: 57,394,081 Y105C probably damaging Het
Usp50 G T 2: 126,777,968 C141* probably null Het
Zfp647 A T 15: 76,911,670 C263* probably null Het
Other mutations in Rdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0011:Rdh19 UTSW 10 127856911 missense probably damaging 1.00
R0011:Rdh19 UTSW 10 127856911 missense probably damaging 1.00
R3841:Rdh19 UTSW 10 127856886 missense probably benign
R3978:Rdh19 UTSW 10 127850075 missense possibly damaging 0.89
R3979:Rdh19 UTSW 10 127850075 missense possibly damaging 0.89
R3981:Rdh19 UTSW 10 127850148 missense probably benign 0.43
R3983:Rdh19 UTSW 10 127850148 missense probably benign 0.43
R4555:Rdh19 UTSW 10 127850151 missense probably benign 0.20
R4871:Rdh19 UTSW 10 127860144 missense probably benign
R4915:Rdh19 UTSW 10 127850244 missense probably benign 0.06
R5712:Rdh19 UTSW 10 127856887 missense probably benign 0.05
R5990:Rdh19 UTSW 10 127859594 missense probably benign
R7328:Rdh19 UTSW 10 127857027 missense probably damaging 1.00
Posted On2013-12-09