Incidental Mutation 'IGL02745:Rdh1'
ID 306097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh1
Ensembl Gene ENSMUSG00000089789
Gene Name retinol dehydrogenase 1 (all trans)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02745
Quality Score
Status
Chromosome 10
Chromosomal Location 127759721-127768297 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127765419 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 279 (T279S)
Ref Sequence ENSEMBL: ENSMUSP00000073322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073639] [ENSMUST00000128247]
AlphaFold Q8CGV4
Predicted Effect probably benign
Transcript: ENSMUST00000073639
AA Change: T279S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000073322
Gene: ENSMUSG00000089789
AA Change: T279S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 222 5.7e-43 PFAM
Pfam:DUF1776 43 303 3.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128247
SMART Domains Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 195 1.7e-23 PFAM
Pfam:DUF1776 43 303 3.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, adipose tissue, and retinol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,228,081 E167G probably benign Het
Aldh1a1 A G 19: 20,636,664 probably benign Het
Ankrd44 T C 1: 54,766,791 H152R probably damaging Het
Bpifb4 T A 2: 153,947,221 L316Q probably damaging Het
C2cd5 A T 6: 143,041,530 L155I probably benign Het
Chrdl2 T A 7: 100,020,963 C98S probably damaging Het
Clnk A G 5: 38,736,319 S232P probably benign Het
Csf3 A G 11: 98,702,477 D140G probably damaging Het
Dnah7b T A 1: 46,195,029 probably benign Het
Fam129c G T 8: 71,605,038 probably null Het
Fam208b A T 13: 3,585,140 S556T probably benign Het
Fetub T C 16: 22,937,926 V259A probably damaging Het
Gga2 G T 7: 122,008,369 R108S probably damaging Het
Hip1r C A 5: 123,990,939 probably null Het
Hsd17b3 A G 13: 64,087,176 F62L probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Man1a C T 10: 53,977,110 R304Q probably damaging Het
Med17 A G 9: 15,265,346 probably benign Het
Mrgprb4 T C 7: 48,198,358 Y274C probably damaging Het
Myh8 C T 11: 67,297,501 T996I possibly damaging Het
Nlrp4e T A 7: 23,321,291 L401Q probably damaging Het
Oas1h G A 5: 120,861,479 R9Q probably benign Het
Olfr1216 A G 2: 89,013,888 Y59H probably damaging Het
Olfr1424 C T 19: 12,059,201 V184I probably benign Het
Olfr919 T C 9: 38,698,198 H56R probably damaging Het
Otor A G 2: 143,081,156 D122G possibly damaging Het
Pcdh18 T A 3: 49,755,891 Q325L probably damaging Het
Ppfibp1 T C 6: 147,022,354 probably benign Het
Pramef25 A T 4: 143,950,724 L95Q probably damaging Het
Prlr T A 15: 10,328,594 I385N possibly damaging Het
Rap1gds1 A G 3: 138,956,241 V418A probably damaging Het
Slc17a3 C A 13: 23,842,486 Q13K probably benign Het
Slc22a20 T C 19: 5,972,873 N414S probably damaging Het
Slc4a1 C A 11: 102,356,267 C498F probably damaging Het
Sp8 G A 12: 118,849,591 G394S probably damaging Het
Ssh2 C T 11: 77,455,407 T1406I probably damaging Het
Stra6 T A 9: 58,152,038 D561E probably damaging Het
Stxbp5l G A 16: 37,186,654 Q726* probably null Het
Synpo2 G A 3: 123,113,612 T685I probably damaging Het
Ttc27 A G 17: 74,739,733 D263G probably benign Het
Ttn G A 2: 76,763,988 P18793S possibly damaging Het
Vmn2r109 A G 17: 20,541,250 V615A probably damaging Het
Vmn2r76 T G 7: 86,230,287 K268N probably benign Het
Zeb2 A G 2: 44,994,475 probably benign Het
Zfp286 C A 11: 62,780,874 K124N probably damaging Het
Other mutations in Rdh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0077:Rdh1 UTSW 10 127760037 missense probably damaging 1.00
R0481:Rdh1 UTSW 10 127763124 missense probably damaging 1.00
R0511:Rdh1 UTSW 10 127764783 missense probably benign
R0558:Rdh1 UTSW 10 127759941 missense possibly damaging 0.88
R1569:Rdh1 UTSW 10 127763072 missense probably benign
R1993:Rdh1 UTSW 10 127765345 missense probably benign
R2164:Rdh1 UTSW 10 127760172 missense possibly damaging 0.89
R3021:Rdh1 UTSW 10 127760208 missense possibly damaging 0.91
R5268:Rdh1 UTSW 10 127759963 missense possibly damaging 0.67
R6126:Rdh1 UTSW 10 127763214 missense probably damaging 1.00
R6216:Rdh1 UTSW 10 127764753 missense probably benign 0.00
R7017:Rdh1 UTSW 10 127763037 missense probably benign 0.02
R7332:Rdh1 UTSW 10 127759885 start gained probably benign
R7397:Rdh1 UTSW 10 127760178 missense probably benign 0.24
R7721:Rdh1 UTSW 10 127760252 critical splice donor site probably null
R7724:Rdh1 UTSW 10 127764707 missense possibly damaging 0.46
R7873:Rdh1 UTSW 10 127760023 missense probably benign 0.03
Posted On 2015-04-16