Incidental Mutation 'R5434:Retsat'
ID 428204
Institutional Source Beutler Lab
Gene Symbol Retsat
Ensembl Gene ENSMUSG00000056666
Gene Name retinol saturase (all trans retinol 13,14 reductase)
Synonyms 0610039N19Rik
MMRRC Submission 042999-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R5434 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 72575585-72584471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72578518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 77 (I77V)
Ref Sequence ENSEMBL: ENSMUSP00000134847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070597] [ENSMUST00000070990] [ENSMUST00000114069] [ENSMUST00000141833] [ENSMUST00000148108] [ENSMUST00000152705] [ENSMUST00000176364] [ENSMUST00000176168]
AlphaFold Q64FW2
Predicted Effect probably benign
Transcript: ENSMUST00000070597
AA Change: I138V

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: I138V

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 probably benign
Transcript: ENSMUST00000141833
Predicted Effect probably benign
Transcript: ENSMUST00000148108
Predicted Effect probably benign
Transcript: ENSMUST00000152705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175824
Predicted Effect probably damaging
Transcript: ENSMUST00000176364
AA Change: I77V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: I77V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1d5ta1 91 290 7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206112
Predicted Effect probably benign
Transcript: ENSMUST00000205878
Predicted Effect probably benign
Transcript: ENSMUST00000176168
SMART Domains Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1gpea1 95 175 6e-3 SMART
Meta Mutation Damage Score 0.1113 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (57/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 G T 9: 20,786,821 (GRCm39) Q301K probably damaging Het
Ankfn1 T C 11: 89,344,013 (GRCm39) Y323C probably damaging Het
Arid5b T A 10: 67,932,719 (GRCm39) H818L possibly damaging Het
Atg13 G T 2: 91,515,110 (GRCm39) probably null Het
Bltp1 A C 3: 36,929,665 (GRCm39) D94A probably damaging Het
Bop1 T C 15: 76,339,611 (GRCm39) M245V probably benign Het
Ces2a T A 8: 105,464,041 (GRCm39) F224L probably damaging Het
Cntnap5b A G 1: 99,999,926 (GRCm39) H228R probably benign Het
Col9a2 A T 4: 120,898,162 (GRCm39) R25* probably null Het
Dcaf12 G T 4: 41,302,744 (GRCm39) T137N probably benign Het
Dennd4c A G 4: 86,729,693 (GRCm39) N765S probably benign Het
Dnah12 A G 14: 26,581,256 (GRCm39) Y3162C probably damaging Het
Dpf1 G T 7: 29,010,756 (GRCm39) C123F possibly damaging Het
Flvcr1 C A 1: 190,758,206 (GRCm39) A29S probably benign Het
Frmd3 A T 4: 74,106,033 (GRCm39) I560F probably damaging Het
Galnt15 G A 14: 31,771,800 (GRCm39) V282I possibly damaging Het
Gm14412 A T 2: 177,006,405 (GRCm39) C497S probably damaging Het
Gm20830 A T Y: 6,916,464 (GRCm39) Y218* probably null Het
Hmcn2 C A 2: 31,310,375 (GRCm39) T3323N probably damaging Het
Idh1 T A 1: 65,214,495 (GRCm39) Q6L probably benign Het
Kansl2-ps A G 7: 72,322,813 (GRCm39) noncoding transcript Het
Kcnj10 T A 1: 172,197,047 (GRCm39) V187E probably damaging Het
Khnyn A G 14: 56,124,957 (GRCm39) T404A probably damaging Het
Lrp1b T A 2: 41,660,880 (GRCm39) N76I probably damaging Het
Lrrc9 G A 12: 72,500,862 (GRCm39) C196Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mgp T A 6: 136,849,772 (GRCm39) N62I probably benign Het
Ms4a6c T A 19: 11,448,588 (GRCm39) H40Q probably benign Het
Necab3 A G 2: 154,389,379 (GRCm39) S121P probably damaging Het
Nfkb1 T A 3: 135,332,372 (GRCm39) K128* probably null Het
Nr4a3 A T 4: 48,067,861 (GRCm39) R486W probably damaging Het
Nwd2 A G 5: 63,964,991 (GRCm39) K1525R probably benign Het
Odad2 T C 18: 7,222,550 (GRCm39) K573R probably benign Het
Pbrm1 G T 14: 30,806,968 (GRCm39) D1085Y probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rbm15 A G 3: 107,237,783 (GRCm39) S872P possibly damaging Het
Rpl32 A G 6: 115,783,996 (GRCm39) F77L probably benign Het
Ryr3 A T 2: 112,624,814 (GRCm39) V2202D probably damaging Het
Sars2 G A 7: 28,449,716 (GRCm39) R387Q probably null Het
Serpinb3d G T 1: 107,006,263 (GRCm39) T275N probably benign Het
Sf3a1 C A 11: 4,124,041 (GRCm39) P296Q probably damaging Het
Sh3bgr A G 16: 96,025,744 (GRCm39) probably benign Het
St3gal3 A G 4: 117,797,247 (GRCm39) L332P probably damaging Het
Ston1 A G 17: 88,952,739 (GRCm39) probably benign Het
Syne2 T A 12: 76,018,649 (GRCm39) S3383T probably damaging Het
Tektl1 A T 10: 78,584,484 (GRCm39) L346* probably null Het
Tnfsf14 A G 17: 57,499,592 (GRCm39) S87P probably benign Het
Trap1 T C 16: 3,862,529 (GRCm39) D583G probably benign Het
Ube3d A T 9: 86,309,460 (GRCm39) I212N possibly damaging Het
Usp34 T A 11: 23,362,271 (GRCm39) D1572E probably damaging Het
Vmn1r179 A T 7: 23,628,387 (GRCm39) T193S probably benign Het
Vmn2r111 C A 17: 22,767,470 (GRCm39) V676L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wls C T 3: 159,639,976 (GRCm39) R536C probably damaging Het
Zfhx3 A G 8: 109,519,031 (GRCm39) D51G probably 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
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
Predicted Primers PCR Primer
(F):5'- TCTTATAGAAAGGGTGGGCAGC -3'
(R):5'- AGGGATGCTAATCATGGTGCATAC -3'

Sequencing Primer
(F):5'- GGGCCCAATCCCTTTTAT -3'
(R):5'- ATCATGGTGCATACTACCTTAACC -3'
Posted On 2016-09-01