Incidental Mutation 'R5434:Retsat'
ID428204
Institutional Source Beutler Lab
Gene Symbol Retsat
Ensembl Gene ENSMUSG00000056666
Gene Nameretinol saturase (all trans retinol 13,14 reductase)
Synonyms
MMRRC Submission 042999-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #R5434 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location72598475-72608425 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 72601535 bp
ZygosityHeterozygous
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] [ENSMUST00000176168] [ENSMUST00000176364]
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 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
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 probably benign
Transcript: ENSMUST00000205878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206112
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
4932438A13Rik A C 3: 36,875,516 D94A probably damaging Het
Angptl6 G T 9: 20,875,525 Q301K probably damaging Het
Ankfn1 T C 11: 89,453,187 Y323C probably damaging Het
Arid5b T A 10: 68,096,889 H818L possibly damaging Het
Armc4 T C 18: 7,222,550 K573R probably benign Het
Atg13 G T 2: 91,684,765 probably null Het
Bop1 T C 15: 76,455,411 M245V probably benign Het
Ccdc105 A T 10: 78,748,650 L346* probably null Het
Ces2a T A 8: 104,737,409 F224L probably damaging Het
Cntnap5b A G 1: 100,072,201 H228R probably benign Het
Col9a2 A T 4: 121,040,965 R25* probably null Het
Dcaf12 G T 4: 41,302,744 T137N probably benign Het
Dennd4c A G 4: 86,811,456 N765S probably benign Het
Dnah12 A G 14: 26,859,299 Y3162C probably damaging Het
Dpf1 G T 7: 29,311,331 C123F possibly damaging Het
Flvcr1 C A 1: 191,026,009 A29S probably benign Het
Frmd3 A T 4: 74,187,796 I560F probably damaging Het
Galnt15 G A 14: 32,049,843 V282I possibly damaging Het
Gm14412 A T 2: 177,314,612 C497S probably damaging Het
Gm20830 A T Y: 6,916,464 Y218* probably null Het
Hmcn2 C A 2: 31,420,363 T3323N probably damaging Het
Idh1 T A 1: 65,175,336 Q6L probably benign Het
Kansl2-ps A G 7: 72,673,065 noncoding transcript Het
Kcnj10 T A 1: 172,369,480 V187E probably damaging Het
Khnyn A G 14: 55,887,500 T404A probably damaging Het
Lrp1b T A 2: 41,770,868 N76I probably damaging Het
Lrrc9 G A 12: 72,454,088 C196Y probably damaging Het
Ltbr G A 6: 125,312,794 R146W probably damaging Het
Mgp T A 6: 136,872,774 N62I probably benign Het
Ms4a6c T A 19: 11,471,224 H40Q probably benign Het
Necab3 A G 2: 154,547,459 S121P probably damaging Het
Nfkb1 T A 3: 135,626,611 K128* probably null Het
Nr4a3 A T 4: 48,067,861 R486W probably damaging Het
Nwd2 A G 5: 63,807,648 K1525R probably benign Het
Pbrm1 G T 14: 31,085,011 D1085Y probably damaging Het
R3hdm4 C T 10: 79,912,458 E162K possibly damaging Het
Rbm15 A G 3: 107,330,467 S872P possibly damaging Het
Rpl32 A G 6: 115,807,035 F77L probably benign Het
Ryr3 A T 2: 112,794,469 V2202D probably damaging Het
Sars2 G A 7: 28,750,291 R387Q probably null Het
Serpinb3d G T 1: 107,078,533 T275N probably benign Het
Sf3a1 C A 11: 4,174,041 P296Q probably damaging Het
Sh3bgr A G 16: 96,224,544 probably benign Het
St3gal3 A G 4: 117,940,050 L332P probably damaging Het
Ston1 A G 17: 88,645,311 probably benign Het
Syne2 T A 12: 75,971,875 S3383T probably damaging Het
Tnfsf14 A G 17: 57,192,592 S87P probably benign Het
Trap1 T C 16: 4,044,665 D583G probably benign Het
Ube2cbp A T 9: 86,427,407 I212N possibly damaging Het
Usp34 T A 11: 23,412,271 D1572E probably damaging Het
Vmn1r179 A T 7: 23,928,962 T193S probably benign Het
Vmn2r111 C A 17: 22,548,489 V676L probably damaging Het
Wee1 TCCCC TCCC 7: 110,124,569 probably null Het
Wls C T 3: 159,934,340 R536C probably damaging Het
Zfhx3 A G 8: 108,792,399 D51G probably damaging Het
Other mutations in Retsat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Retsat APN 6 72607317 missense probably damaging 1.00
IGL01816:Retsat APN 6 72601605 missense probably benign 0.02
IGL01993:Retsat APN 6 72604995 unclassified probably benign
IGL02212:Retsat APN 6 72601710 nonsense probably null
IGL02719:Retsat APN 6 72603659 missense possibly damaging 0.94
IGL02870:Retsat APN 6 72607024 missense probably damaging 1.00
IGL03352:Retsat APN 6 72598683 missense probably damaging 0.96
R0135:Retsat UTSW 6 72602772 missense probably damaging 0.99
R0487:Retsat UTSW 6 72606431 missense probably damaging 0.96
R1173:Retsat UTSW 6 72603651 unclassified probably benign
R1716:Retsat UTSW 6 72606080 missense probably damaging 0.99
R1718:Retsat UTSW 6 72602671 missense probably benign 0.00
R1744:Retsat UTSW 6 72606575 nonsense probably null
R4976:Retsat UTSW 6 72601626 missense probably damaging 1.00
R5669:Retsat UTSW 6 72606010 missense probably benign 0.02
R6247:Retsat UTSW 6 72604935 missense probably benign 0.06
R6675:Retsat UTSW 6 72601689 missense probably benign 0.00
R7200:Retsat UTSW 6 72606019 missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TCTTATAGAAAGGGTGGGCAGC -3'
(R):5'- AGGGATGCTAATCATGGTGCATAC -3'

Sequencing Primer
(F):5'- GGGCCCAATCCCTTTTAT -3'
(R):5'- ATCATGGTGCATACTACCTTAACC -3'
Posted On2016-09-01