Incidental Mutation 'IGL03352:Retsat'
ID 419781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Retsat
Ensembl Gene ENSMUSG00000056666
Gene Name retinol saturase (all trans retinol 13,14 reductase)
Synonyms 0610039N19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL03352
Quality Score
Status
Chromosome 6
Chromosomal Location 72575585-72584471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72575666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 19 (V19A)
Ref Sequence ENSEMBL: ENSMUSP00000134847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070597] [ENSMUST00000070990] [ENSMUST00000114069] [ENSMUST00000141833] [ENSMUST00000148108] [ENSMUST00000152705] [ENSMUST00000176168] [ENSMUST00000176364]
AlphaFold Q64FW2
Predicted Effect probably benign
Transcript: ENSMUST00000070597
AA Change: V19A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: V19A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:FAD_binding_2 68 113 8.9e-9 PFAM
Pfam:NAD_binding_8 71 136 1.3e-15 PFAM
Pfam:Amino_oxidase 76 587 2.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070990
SMART Domains Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698

DomainStartEndE-ValueType
Pfam:ELMO_CED12 151 314 3.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114069
SMART Domains Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698

DomainStartEndE-ValueType
Pfam:ELMO_CED12 154 313 1.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140825
Predicted Effect probably benign
Transcript: ENSMUST00000141833
Predicted Effect probably benign
Transcript: ENSMUST00000148108
Predicted Effect probably benign
Transcript: ENSMUST00000152705
Predicted Effect possibly damaging
Transcript: ENSMUST00000176168
AA Change: V19A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666
AA Change: V19A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1gpea1 95 175 6e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176364
AA Change: V19A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: V19A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1d5ta1 91 290 7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206112
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are deficient in the production of all-trans-13,14-dihydroretinol from dietary vitamin A and exhibit increased adiposity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,184,213 (GRCm39) S426G probably benign Het
Arap3 T C 18: 38,114,355 (GRCm39) probably benign Het
Arhgap45 T A 10: 79,866,585 (GRCm39) N1029K probably damaging Het
Arhgef10l A T 4: 140,311,242 (GRCm39) M1K probably null Het
Bloc1s6 T C 2: 122,584,638 (GRCm39) L71P probably damaging Het
Ccer1 G T 10: 97,529,439 (GRCm39) R34M unknown Het
Cd44 T C 2: 102,675,759 (GRCm39) probably benign Het
Col17a1 T C 19: 47,669,814 (GRCm39) probably null Het
Cspp1 A G 1: 10,117,662 (GRCm39) E38G possibly damaging Het
Dock10 A T 1: 80,584,013 (GRCm39) probably benign Het
Dsg3 A T 18: 20,660,689 (GRCm39) M343L probably benign Het
Eif3l G A 15: 78,961,251 (GRCm39) probably benign Het
Fcrl1 T C 3: 87,292,398 (GRCm39) L150P probably benign Het
Flg2 T G 3: 93,109,801 (GRCm39) S610A unknown Het
Grin3b C T 10: 79,809,615 (GRCm39) R374C probably damaging Het
H2-Oa A T 17: 34,313,377 (GRCm39) I143F probably damaging Het
Itgae C T 11: 73,022,556 (GRCm39) P924S probably damaging Het
Itpr2 T A 6: 146,058,602 (GRCm39) D2521V probably damaging Het
Itprid2 T A 2: 79,475,445 (GRCm39) M468K probably damaging Het
Laptm4a G A 12: 8,981,719 (GRCm39) G143D probably benign Het
Lrp6 T C 6: 134,456,726 (GRCm39) Y846C probably damaging Het
Mcm10 A T 2: 4,999,407 (GRCm39) S749T probably damaging Het
Nemf T C 12: 69,378,679 (GRCm39) N548D probably damaging Het
Nlrp4e T A 7: 23,020,251 (GRCm39) L246Q probably damaging Het
Nsun6 A T 2: 15,001,157 (GRCm39) C466* probably null Het
Olfm2 T C 9: 20,580,019 (GRCm39) D252G probably damaging Het
Or10j5 A C 1: 172,784,850 (GRCm39) M163L probably benign Het
Or14j9 T A 17: 37,874,681 (GRCm39) I174F probably damaging Het
Or2h1 G A 17: 37,404,311 (GRCm39) L152F probably benign Het
Or9i14 T C 19: 13,792,292 (GRCm39) I221V probably damaging Het
Pcdhb14 C T 18: 37,582,057 (GRCm39) R388C possibly damaging Het
Piwil1 C T 5: 128,828,136 (GRCm39) T712I probably benign Het
Piwil4 G T 9: 14,637,183 (GRCm39) T377K probably damaging Het
Prg3 T C 2: 84,823,370 (GRCm39) F182L probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rpl21-ps4 A T 14: 11,227,760 (GRCm38) noncoding transcript Het
Sh3glb2 A G 2: 30,235,363 (GRCm39) V370A probably damaging Het
Skint4 G T 4: 112,022,883 (GRCm39) W459C possibly damaging Het
Slco1a1 T A 6: 141,857,611 (GRCm39) R573S probably benign Het
Smgc T C 15: 91,744,876 (GRCm39) S694P probably damaging Het
Spaca6 A G 17: 18,058,401 (GRCm39) Y7C probably damaging Het
Spn T C 7: 126,736,178 (GRCm39) T110A probably benign Het
Tepsin C T 11: 119,982,703 (GRCm39) V456I probably benign Het
Tex261 C T 6: 83,748,249 (GRCm39) R171Q possibly damaging Het
Tmem184a A T 5: 139,798,755 (GRCm39) F65I probably damaging Het
Tpm3 G A 3: 89,995,052 (GRCm39) probably null Het
Tubgcp2 T A 7: 139,580,940 (GRCm39) H671L probably benign Het
Unc13b T G 4: 43,237,110 (GRCm39) D3393E possibly damaging Het
Vcan T A 13: 89,853,125 (GRCm39) M612L probably benign Het
Vmn1r180 C A 7: 23,652,077 (GRCm39) S80* probably null Het
Vmn1r64 C T 7: 5,887,070 (GRCm39) V158I probably benign Het
Vps13d C T 4: 144,894,072 (GRCm39) V496I possibly damaging Het
Wee2 T G 6: 40,429,589 (GRCm39) probably null Het
Zfp804b T C 5: 6,820,039 (GRCm39) N972S probably benign Het
Other mutations in Retsat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Retsat APN 6 72,584,300 (GRCm39) missense probably damaging 1.00
IGL01816:Retsat APN 6 72,578,588 (GRCm39) missense probably benign 0.02
IGL01993:Retsat APN 6 72,581,978 (GRCm39) unclassified probably benign
IGL02212:Retsat APN 6 72,578,693 (GRCm39) nonsense probably null
IGL02719:Retsat APN 6 72,580,642 (GRCm39) missense possibly damaging 0.94
IGL02870:Retsat APN 6 72,584,007 (GRCm39) missense probably damaging 1.00
R0135:Retsat UTSW 6 72,579,755 (GRCm39) missense probably damaging 0.99
R0487:Retsat UTSW 6 72,583,414 (GRCm39) missense probably damaging 0.96
R1173:Retsat UTSW 6 72,580,634 (GRCm39) unclassified probably benign
R1716:Retsat UTSW 6 72,583,063 (GRCm39) missense probably damaging 0.99
R1718:Retsat UTSW 6 72,579,654 (GRCm39) missense probably benign 0.00
R1744:Retsat UTSW 6 72,583,558 (GRCm39) nonsense probably null
R4976:Retsat UTSW 6 72,578,609 (GRCm39) missense probably damaging 1.00
R5434:Retsat UTSW 6 72,578,518 (GRCm39) missense probably damaging 0.96
R5669:Retsat UTSW 6 72,582,993 (GRCm39) missense probably benign 0.02
R6247:Retsat UTSW 6 72,581,918 (GRCm39) missense probably benign 0.06
R6675:Retsat UTSW 6 72,578,672 (GRCm39) missense probably benign 0.00
R7200:Retsat UTSW 6 72,583,002 (GRCm39) missense possibly damaging 0.86
R7939:Retsat UTSW 6 72,581,919 (GRCm39) missense probably benign
R9055:Retsat UTSW 6 72,583,936 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02