Incidental Mutation 'R6037:Thrsp'
ID 501749
Institutional Source Beutler Lab
Gene Symbol Thrsp
Ensembl Gene ENSMUSG00000035686
Gene Name thyroid hormone responsive
Synonyms Spot 14, S14
MMRRC Submission 043258-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R6037 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 97062140-97066757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 97066499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 71 (D71A)
Ref Sequence ENSEMBL: ENSMUSP00000042988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043077]
AlphaFold Q62264
PDB Structure The Crystal Structure of Spot14, a modulator of lipogenesis [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043077
AA Change: D71A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042988
Gene: ENSMUSG00000035686
AA Change: D71A

DomainStartEndE-ValueType
Pfam:Spot_14 1 149 2.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206613
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.4%
  • 20x: 72.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased triglyceride during lactation and in milk produced as well as decreased de novo lipid biosynthesis in mammary tissue. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abi2 C A 1: 60,503,738 (GRCm39) P212T probably damaging Het
Ano4 A G 10: 89,153,108 (GRCm39) F68S possibly damaging Het
Art5 C A 7: 101,747,591 (GRCm39) A63S probably benign Het
Asgr1 T A 11: 69,947,247 (GRCm39) S96R probably benign Het
Bdp1 A T 13: 100,163,957 (GRCm39) V2248D possibly damaging Het
Cacna1s C T 1: 135,998,705 (GRCm39) A200V possibly damaging Het
Cacna2d2 A G 9: 107,390,738 (GRCm39) K357E probably damaging Het
Cdhr18 T C 14: 13,864,282 (GRCm38) N348S probably damaging Het
Cfap52 C T 11: 67,837,126 (GRCm39) G212R probably benign Het
Dcun1d3 A G 7: 119,456,965 (GRCm39) F249S probably damaging Het
Ece2 A G 16: 20,449,112 (GRCm39) Y17C probably damaging Het
Efemp1 C T 11: 28,871,760 (GRCm39) T425I probably damaging Het
Eprs1 A G 1: 185,128,306 (GRCm39) E562G probably damaging Het
Fbn2 T C 18: 58,177,295 (GRCm39) T2001A probably benign Het
Flt4 G A 11: 49,527,867 (GRCm39) R940H probably damaging Het
Fry T A 5: 150,351,644 (GRCm39) M1716K probably benign Het
Gm10684 T A 9: 45,019,039 (GRCm39) probably benign Het
Hivep1 G A 13: 42,311,416 (GRCm39) V1219I probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Il23r C T 6: 67,455,938 (GRCm39) V177M probably damaging Het
Klf12 T C 14: 100,137,650 (GRCm39) S299G probably benign Het
Lama5 G A 2: 179,848,806 (GRCm39) R265C probably damaging Het
Lifr A G 15: 7,216,424 (GRCm39) T800A probably damaging Het
Megf8 T C 7: 25,063,831 (GRCm39) L2729P probably damaging Het
Mki67 A C 7: 135,298,532 (GRCm39) S2167R possibly damaging Het
Mus81 T C 19: 5,534,032 (GRCm39) K400E probably damaging Het
Nomo1 T A 7: 45,712,423 (GRCm39) I656N possibly damaging Het
Oas3 T C 5: 120,907,384 (GRCm39) T418A probably benign Het
Olr1 A G 6: 129,470,504 (GRCm39) L221P probably damaging Het
Or14c44 C T 7: 86,062,478 (GRCm39) L303F probably benign Het
Or5m9 T C 2: 85,876,928 (GRCm39) M34T probably benign Het
Or8b3 T A 9: 38,314,601 (GRCm39) C144S probably benign Het
Or8g22 A G 9: 38,958,403 (GRCm39) V104A probably damaging Het
Or8k28 T A 2: 86,286,133 (GRCm39) I161L probably benign Het
Pih1d1 C T 7: 44,805,738 (GRCm39) A69V probably damaging Het
Pkdrej A C 15: 85,703,967 (GRCm39) S656R probably damaging Het
Polr3f A G 2: 144,377,943 (GRCm39) D171G probably damaging Het
Rasal1 T C 5: 120,787,566 (GRCm39) V11A possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sptbn4 T A 7: 27,063,595 (GRCm39) Y2277F probably damaging Het
St6galnac6 A G 2: 32,502,240 (GRCm39) Q7R probably damaging Het
Vmn2r1 C A 3: 63,989,150 (GRCm39) Q30K probably benign Het
Vmn2r125 C A 4: 156,703,396 (GRCm39) A258D probably benign Het
Wipf2 C T 11: 98,787,005 (GRCm39) P345S probably benign Het
Zeb2 G T 2: 44,878,652 (GRCm39) S1170* probably null Het
Zfp947 A G 17: 22,366,415 (GRCm39) Y38H probably damaging Het
Other mutations in Thrsp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0276:Thrsp UTSW 7 97,066,709 (GRCm39) start codon destroyed probably null 1.00
R0454:Thrsp UTSW 7 97,066,634 (GRCm39) missense probably damaging 1.00
R1809:Thrsp UTSW 7 97,066,332 (GRCm39) missense probably benign 0.15
R6037:Thrsp UTSW 7 97,066,499 (GRCm39) missense possibly damaging 0.86
R7241:Thrsp UTSW 7 97,066,295 (GRCm39) missense probably damaging 0.98
R7602:Thrsp UTSW 7 97,066,514 (GRCm39) missense probably damaging 1.00
R9294:Thrsp UTSW 7 97,066,281 (GRCm39) missense probably damaging 1.00
R9345:Thrsp UTSW 7 97,066,326 (GRCm39) missense possibly damaging 0.92
Predicted Primers
Posted On 2017-12-01