Incidental Mutation 'R4555:Rdh19'
ID 341842
Institutional Source Beutler Lab
Gene Symbol Rdh19
Ensembl Gene ENSMUSG00000054052
Gene Name retinol dehydrogenase 19
Synonyms RDH-S, Rdhs
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R4555 (G1)
Quality Score 216
Status Not validated
Chromosome 10
Chromosomal Location 127685797-127697045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127686020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 44 (L44Q)
Ref Sequence ENSEMBL: ENSMUSP00000076735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077530] [ENSMUST00000125163]
AlphaFold G5E8H9
Predicted Effect probably benign
Transcript: ENSMUST00000077530
AA Change: L44Q

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000076735
Gene: ENSMUSG00000054052
AA Change: L44Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000125163
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,667,937 (GRCm39) probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamts17 A T 7: 66,677,641 (GRCm39) E518D probably damaging Het
Afp T G 5: 90,654,546 (GRCm39) I528S possibly damaging Het
Cul9 T C 17: 46,812,755 (GRCm39) D2407G possibly damaging Het
Cyp19a1 T C 9: 54,074,105 (GRCm39) E483G probably damaging Het
Dennd2c G A 3: 103,039,202 (GRCm39) V117I probably benign Het
Inha C T 1: 75,486,227 (GRCm39) P174L possibly damaging Het
Myo15a A G 11: 60,387,763 (GRCm39) R746G probably damaging Het
Ndufaf7 T C 17: 79,249,516 (GRCm39) S138P probably benign Het
Osmr T C 15: 6,845,201 (GRCm39) Q855R possibly damaging Het
Pip4k2a C T 2: 18,877,103 (GRCm39) D211N probably damaging Het
Pitpnm1 A G 19: 4,153,085 (GRCm39) Q135R probably benign Het
Plxna1 G T 6: 89,300,310 (GRCm39) T1591K probably damaging Het
Rom1 T C 19: 8,905,380 (GRCm39) T267A possibly damaging Het
Smad3 C T 9: 63,562,070 (GRCm39) V108I possibly damaging Het
Sptb A C 12: 76,659,625 (GRCm39) S1092A probably benign Het
Thap12 A G 7: 98,365,052 (GRCm39) N407D probably benign Het
Tmc5 T C 7: 118,269,956 (GRCm39) I902T probably benign Het
Ugt1a6a C T 1: 88,066,349 (GRCm39) R52* probably null Het
Usp54 C T 14: 20,611,090 (GRCm39) R1242H probably benign Het
Vps16 T C 2: 130,285,496 (GRCm39) V813A probably damaging Het
Other mutations in Rdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:Rdh19 APN 10 127,695,464 (GRCm39) missense probably benign
R0011:Rdh19 UTSW 10 127,692,780 (GRCm39) missense probably damaging 1.00
R0011:Rdh19 UTSW 10 127,692,780 (GRCm39) missense probably damaging 1.00
R3841:Rdh19 UTSW 10 127,692,755 (GRCm39) missense probably benign
R3978:Rdh19 UTSW 10 127,685,944 (GRCm39) missense possibly damaging 0.89
R3979:Rdh19 UTSW 10 127,685,944 (GRCm39) missense possibly damaging 0.89
R3981:Rdh19 UTSW 10 127,686,017 (GRCm39) missense probably benign 0.43
R3983:Rdh19 UTSW 10 127,686,017 (GRCm39) missense probably benign 0.43
R4871:Rdh19 UTSW 10 127,696,013 (GRCm39) missense probably benign
R4915:Rdh19 UTSW 10 127,686,113 (GRCm39) missense probably benign 0.06
R5712:Rdh19 UTSW 10 127,692,756 (GRCm39) missense probably benign 0.05
R5990:Rdh19 UTSW 10 127,695,463 (GRCm39) missense probably benign
R7328:Rdh19 UTSW 10 127,692,896 (GRCm39) missense probably damaging 1.00
R7806:Rdh19 UTSW 10 127,692,740 (GRCm39) missense probably damaging 0.98
R7886:Rdh19 UTSW 10 127,686,169 (GRCm39) missense probably benign 0.05
R8496:Rdh19 UTSW 10 127,695,469 (GRCm39) missense probably damaging 1.00
R8935:Rdh19 UTSW 10 127,685,929 (GRCm39) missense possibly damaging 0.77
R9090:Rdh19 UTSW 10 127,696,142 (GRCm39) missense probably damaging 0.99
R9140:Rdh19 UTSW 10 127,692,830 (GRCm39) missense
R9271:Rdh19 UTSW 10 127,696,142 (GRCm39) missense probably damaging 0.99
R9344:Rdh19 UTSW 10 127,692,740 (GRCm39) missense probably damaging 0.98
R9473:Rdh19 UTSW 10 127,696,177 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGCCGCATTTTGACACAGAG -3'
(R):5'- GTACCTCTGTTCCCAACACG -3'

Sequencing Primer
(F):5'- GAGTCTCTCTCTCTCTCTCTCTC -3'
(R):5'- GCTCCTTCACCCACTGAGTG -3'
Posted On 2015-09-24