Incidental Mutation 'IGL02719:Retsat'
ID 304914
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 # IGL02719
Quality Score
Status
Chromosome 6
Chromosomal Location 72575585-72584471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72580642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 207 (T207A)
Ref Sequence ENSEMBL: ENSMUSP00000134847 (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 probably benign
Transcript: ENSMUST00000070597
AA Change: T268A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: T268A

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 noncoding transcript
Transcript: ENSMUST00000175824
Predicted Effect probably benign
Transcript: ENSMUST00000176168
AA Change: T59A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666
AA Change: T59A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1gpea1 95 175 6e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176364
AA Change: T207A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: T207A

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,150 (GRCm39) D160G probably damaging Het
Aak1 A G 6: 86,936,152 (GRCm39) probably benign Het
Anp32e A G 3: 95,845,224 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,568,405 (GRCm39) L61Q probably damaging Het
Btrc A G 19: 45,491,589 (GRCm39) I89M probably damaging Het
Ccdc175 G A 12: 72,221,899 (GRCm39) T141M probably damaging Het
Cep70 G A 9: 99,157,775 (GRCm39) V225I probably damaging Het
Cilk1 A G 9: 78,047,301 (GRCm39) E67G probably damaging Het
Col4a1 T C 8: 11,281,950 (GRCm39) probably benign Het
Cpne1 T C 2: 155,920,137 (GRCm39) Y214C probably damaging Het
Crtc3 T C 7: 80,268,406 (GRCm39) probably null Het
Cul2 C T 18: 3,434,052 (GRCm39) A683V probably damaging Het
Ddx47 A G 6: 134,994,114 (GRCm39) N131D probably benign Het
Dnah7b T G 1: 46,138,768 (GRCm39) probably benign Het
Dnai2 T C 11: 114,642,737 (GRCm39) L446P probably damaging Het
Ergic2 T C 6: 148,106,317 (GRCm39) T58A possibly damaging Het
Erlin2 A G 8: 27,519,703 (GRCm39) probably benign Het
Fermt2 T C 14: 45,742,113 (GRCm39) T78A probably damaging Het
Flg2 G T 3: 93,127,438 (GRCm39) G97* probably null Het
Gm7356 A G 17: 14,221,537 (GRCm39) I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 (GRCm39) probably benign Het
Heatr5b C T 17: 79,122,969 (GRCm39) R670H probably damaging Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Itpkc A T 7: 26,927,475 (GRCm39) D146E possibly damaging Het
Kcnk3 T C 5: 30,779,324 (GRCm39) F125L probably damaging Het
Kif12 T A 4: 63,086,033 (GRCm39) M411L probably benign Het
Krtap24-1 T C 16: 88,409,094 (GRCm39) S11G probably benign Het
Lilra6 A T 7: 3,915,991 (GRCm39) H289Q possibly damaging Het
Musk A C 4: 58,356,496 (GRCm39) N469H probably benign Het
Myom1 A G 17: 71,413,349 (GRCm39) probably benign Het
Nagpa A G 16: 5,019,357 (GRCm39) V46A possibly damaging Het
Or4k37 T A 2: 111,159,590 (GRCm39) Y275* probably null Het
Or5h25 T A 16: 58,930,536 (GRCm39) T146S probably benign Het
Or8g17 T C 9: 38,930,312 (GRCm39) N175S probably benign Het
Parp6 T A 9: 59,538,021 (GRCm39) V222E probably benign Het
Pde3b T A 7: 114,105,483 (GRCm39) S472T probably damaging Het
Peak1 A G 9: 56,134,490 (GRCm39) S1314P probably damaging Het
Pgc A G 17: 48,039,792 (GRCm39) Y62C probably damaging Het
Pitpnm2 A G 5: 124,278,665 (GRCm39) C189R probably damaging Het
Pla2g15 G T 8: 106,886,828 (GRCm39) Q106H probably benign Het
Pla2g4c T A 7: 13,064,019 (GRCm39) S93T probably damaging Het
Rbks G T 5: 31,809,145 (GRCm39) probably benign Het
Slc25a32 A G 15: 38,963,300 (GRCm39) Y174H probably benign Het
Slc35f2 T A 9: 53,717,026 (GRCm39) probably benign Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sos2 A G 12: 69,663,958 (GRCm39) Y476H probably benign Het
Ssh2 A T 11: 77,316,413 (GRCm39) N296I probably damaging Het
Sspo G T 6: 48,459,601 (GRCm39) R3320L probably benign Het
Synj2 A G 17: 6,047,192 (GRCm39) I166V probably benign Het
Tpp2 T C 1: 43,979,391 (GRCm39) V96A probably benign Het
Vmn2r3 A T 3: 64,183,031 (GRCm39) W223R probably damaging Het
Wdr17 T C 8: 55,146,089 (GRCm39) probably null Het
Zfr2 T A 10: 81,080,546 (GRCm39) C407S 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
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
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 2015-04-16