Incidental Mutation 'R7200:Retsat'
ID 560233
Institutional Source Beutler Lab
Gene Symbol Retsat
Ensembl Gene ENSMUSG00000056666
Gene Name retinol saturase (all trans retinol 13,14 reductase)
Synonyms 0610039N19Rik
MMRRC Submission 045278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7200 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 72575585-72584471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72583002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 388 (S388P)
Ref Sequence ENSEMBL: ENSMUSP00000068568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070524] [ENSMUST00000070597] [ENSMUST00000176168] [ENSMUST00000176364]
AlphaFold Q64FW2
Predicted Effect probably benign
Transcript: ENSMUST00000070524
SMART Domains Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 58 74 N/A INTRINSIC
low complexity region 238 260 N/A INTRINSIC
transmembrane domain 300 319 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000070597
AA Change: S388P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: S388P

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: ENSMUST00000129071
Predicted Effect probably damaging
Transcript: ENSMUST00000176168
AA Change: S179P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666
AA Change: S179P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1gpea1 95 175 6e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176364
AA Change: S327P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: S327P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1d5ta1 91 290 7e-3 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,836 (GRCm39) M75T unknown Het
2700049A03Rik T G 12: 71,187,680 (GRCm39) N105K probably damaging Het
Acvr1c A T 2: 58,205,867 (GRCm39) V31E probably damaging Het
Adra1d T A 2: 131,403,170 (GRCm39) T307S probably benign Het
Akr1c14 T C 13: 4,131,051 (GRCm39) Y248H probably benign Het
Ankub1 T C 3: 57,580,406 (GRCm39) T84A probably benign Het
Asb3 C A 11: 30,948,348 (GRCm39) S8* probably null Het
AU041133 G A 10: 81,986,935 (GRCm39) G196D possibly damaging Het
B4galt7 T C 13: 55,756,155 (GRCm39) C214R probably damaging Het
Chd3 A G 11: 69,254,921 (GRCm39) S140P possibly damaging Het
Ciz1 T C 2: 32,254,299 (GRCm39) L80P probably damaging Het
Col6a4 G A 9: 105,949,448 (GRCm39) P729L possibly damaging Het
Cr2 A G 1: 194,845,557 (GRCm39) C133R probably damaging Het
Dmgdh T C 13: 93,828,393 (GRCm39) L178P probably damaging Het
Dock5 C A 14: 68,009,151 (GRCm39) E1448* probably null Het
Elavl1 A G 8: 4,361,767 (GRCm39) S2P probably benign Het
Flywch1 T C 17: 23,980,033 (GRCm39) H247R possibly damaging Het
Gabpb1 A T 2: 126,481,222 (GRCm39) I309N possibly damaging Het
Glrx3 T C 7: 137,066,165 (GRCm39) F298L possibly damaging Het
Gpc6 G A 14: 118,202,268 (GRCm39) V493I probably benign Het
H2-T13 A T 17: 36,391,938 (GRCm39) I45N possibly damaging Het
Hadha C T 5: 30,350,315 (GRCm39) E78K probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,903 (GRCm39) F56L probably damaging Het
Ldlrad3 A G 2: 101,943,905 (GRCm39) F56L probably damaging Het
Mapk4 A T 18: 74,063,990 (GRCm39) S411T possibly damaging Het
Mcm9 A G 10: 53,492,019 (GRCm39) M382T Het
Muc21 TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT TCCTGAGGCAGTGCTGGAT 17: 35,933,525 (GRCm39) probably benign Het
Or2t6 A T 14: 14,175,477 (GRCm38) C202S probably damaging Het
Or5b104 T C 19: 13,072,596 (GRCm39) T139A probably benign Het
Pacs1 A C 19: 5,206,441 (GRCm39) I248S possibly damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Plekhg1 T C 10: 3,906,810 (GRCm39) S631P Het
Rars2 A T 4: 34,645,747 (GRCm39) K221N probably benign Het
Rft1 G A 14: 30,404,814 (GRCm39) probably null Het
Rgsl1 A G 1: 153,660,945 (GRCm39) V345A probably benign Het
Rnf38 A T 4: 44,137,620 (GRCm39) S320R probably benign Het
Sel1l3 T A 5: 53,301,451 (GRCm39) Y722F probably benign Het
Slc13a4 T C 6: 35,264,285 (GRCm39) E194G possibly damaging Het
Spata17 G A 1: 186,844,700 (GRCm39) R300C probably benign Het
Tacc1 G A 8: 25,731,656 (GRCm39) probably benign Het
Tc2n T G 12: 101,655,314 (GRCm39) I214L probably damaging Het
Tet2 T C 3: 133,192,953 (GRCm39) S494G probably benign Het
Tmco5b A T 2: 113,121,722 (GRCm39) I179L probably damaging Het
Triobp AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA AGGGACAA 15: 78,851,042 (GRCm39) probably benign Het
Trpv1 A G 11: 73,130,412 (GRCm39) T173A probably damaging Het
Vmn2r56 C T 7: 12,444,259 (GRCm39) G458R probably damaging Het
Vmn2r81 T G 10: 79,106,570 (GRCm39) probably null Het
Wfdc15b T A 2: 164,057,037 (GRCm39) E80D probably benign Het
Wrn A T 8: 33,812,376 (GRCm39) D423E probably benign Het
Zfp775 T A 6: 48,597,415 (GRCm39) C430S possibly damaging 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
IGL03352:Retsat APN 6 72,575,666 (GRCm39) missense probably damaging 0.96
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
R7939:Retsat UTSW 6 72,581,919 (GRCm39) missense probably benign
R9055:Retsat UTSW 6 72,583,936 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGGTCTCTGCCAGGATCCTATAG -3'
(R):5'- TCATTCCTAGAACCGTGTGGAG -3'

Sequencing Primer
(F):5'- CTCTGCCAGGATCCTATAGAAATAG -3'
(R):5'- CTAGAACCGTGTGGAGGGTGG -3'
Posted On 2019-06-26