Incidental Mutation 'R0011:Rdh19'
ID8047
Institutional Source Beutler Lab
Gene Symbol Rdh19
Ensembl Gene ENSMUSG00000054052
Gene Nameretinol dehydrogenase 19
SynonymsRDH-S, Rdhs
MMRRC Submission 038306-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R0011 (G1)
Quality Score
Status Validated
Chromosome10
Chromosomal Location127849928-127861176 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 127856911 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 149 (L149Q)
Ref Sequence ENSEMBL: ENSMUSP00000076735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077530]
Predicted Effect probably damaging
Transcript: ENSMUST00000077530
AA Change: L149Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076735
Gene: ENSMUSG00000054052
AA Change: L149Q

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
Meta Mutation Damage Score 0.8844 question?
Coding Region Coverage
  • 1x: 78.3%
  • 3x: 67.8%
  • 10x: 41.6%
  • 20x: 22.3%
Validation Efficiency 92% (85/92)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,229,993 L389Q probably damaging Het
Ank3 A G 10: 69,979,451 probably benign Het
Art3 T A 5: 92,403,612 Y17N probably damaging Het
Asic3 C T 5: 24,417,492 probably benign Het
Brip1 C A 11: 86,186,998 K201N possibly damaging Het
Casc1 T A 6: 145,179,055 M515L probably damaging Het
Ccdc88a T C 11: 29,374,364 F6S probably damaging Het
Cfap54 A T 10: 93,065,225 C156S probably damaging Het
Chia1 A G 3: 106,130,974 probably benign Het
Cops4 C A 5: 100,527,981 Q28K probably benign Het
Epha7 G A 4: 28,962,564 D961N probably benign Het
Grin2c T C 11: 115,255,750 Y476C probably damaging Het
Igf2bp1 T C 11: 96,005,584 D17G probably damaging Het
Kidins220 T A 12: 24,999,352 V322E probably damaging Het
Krt35 T A 11: 100,093,676 Q331L probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mrc1 T C 2: 14,261,337 probably null Het
Msh2 T C 17: 87,680,093 probably benign Het
Ncoa1 A C 12: 4,322,896 F57L possibly damaging Het
Npy4r C T 14: 34,146,723 V203M probably damaging Het
Pcdhgb8 T C 18: 37,764,282 S802P probably benign Het
Ralgapa1 A G 12: 55,786,263 S152P probably damaging Het
Rasgef1b T C 5: 99,232,354 Y344C probably damaging Het
Shtn1 A G 19: 59,032,218 S191P possibly damaging Het
Tmem202 T A 9: 59,524,801 N81I probably benign Het
Trim58 A T 11: 58,643,120 T167S probably benign Het
Trp53i11 A T 2: 93,199,353 probably benign Het
Ttc30a2 T A 2: 75,976,217 R650S probably damaging Het
Ttn T C 2: 76,810,355 H5356R probably damaging Het
Tyrp1 C T 4: 80,840,793 T301I probably damaging Het
Wdr17 A T 8: 54,672,501 I448K possibly damaging Het
Wscd1 T C 11: 71,788,828 V509A probably damaging Het
Zfp251 A G 15: 76,854,554 V108A probably benign Het
Other mutations in Rdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:Rdh19 APN 10 127859595 missense probably benign
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
R7806:Rdh19 UTSW 10 127856871 missense probably damaging 0.98
Posted On2012-11-20