Incidental Mutation 'R9345:Thrsp'
ID 707743
Institutional Source Beutler Lab
Gene Symbol Thrsp
Ensembl Gene ENSMUSG00000035686
Gene Name thyroid hormone responsive
Synonyms Spot 14, S14
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R9345 (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 C at 97066326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 129 (T129A)
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: T129A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042988
Gene: ENSMUSG00000035686
AA Change: T129A

DomainStartEndE-ValueType
Pfam:Spot_14 1 149 2.7e-56 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,807,869 (GRCm39) I837F probably damaging Het
Acot3 A G 12: 84,103,866 (GRCm39) Y225C probably benign Het
Adam17 A G 12: 21,378,056 (GRCm39) V710A probably damaging Het
Ank3 A G 10: 69,761,899 (GRCm39) probably benign Het
Ankrd60 T A 2: 173,410,610 (GRCm39) K303N possibly damaging Het
Atp10b T A 11: 43,094,024 (GRCm39) S523T probably damaging Het
Bptf A G 11: 106,971,588 (GRCm39) V973A possibly damaging Het
Ccdc24 C T 4: 117,729,691 (GRCm39) W9* probably null Het
Ccdc82 A G 9: 13,281,891 (GRCm39) T439A probably benign Het
Ccne2 C A 4: 11,199,420 (GRCm39) Q274K probably benign Het
Clec11a T C 7: 43,956,189 (GRCm39) M1V probably null Het
Col12a1 T A 9: 79,541,017 (GRCm39) Y2370F probably benign Het
Cyp4a32 C T 4: 115,467,699 (GRCm39) H228Y probably benign Het
Dchs2 G A 3: 83,036,101 (GRCm39) G283S probably benign Het
Dis3 T C 14: 99,318,814 (GRCm39) T659A probably damaging Het
Dock5 T C 14: 68,060,071 (GRCm39) D456G possibly damaging Het
Efr3b T A 12: 4,033,409 (GRCm39) K249* probably null Het
Emilin2 C T 17: 71,581,539 (GRCm39) V396I probably benign Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fasn A T 11: 120,706,735 (GRCm39) S947T probably benign Het
Fryl C T 5: 73,207,754 (GRCm39) C2472Y probably benign Het
Gm3159 A T 14: 4,398,488 (GRCm38) I60L probably benign Het
Gm3402 A T 5: 146,451,330 (GRCm39) N63Y probably damaging Het
Gm49355 C T 14: 12,296,641 (GRCm38) probably benign Het
Grm2 A G 9: 106,528,287 (GRCm39) L199P probably damaging Het
Hck T A 2: 152,992,904 (GRCm39) H470Q probably benign Het
Hsd17b4 T C 18: 50,299,981 (GRCm39) Y413H probably benign Het
Ice1 A G 13: 70,740,758 (GRCm39) F80L Het
Ifrd1 G A 12: 40,267,458 (GRCm39) P38S possibly damaging Het
Itgad A G 7: 127,788,479 (GRCm39) T431A probably benign Het
Kcnd3 A T 3: 105,566,003 (GRCm39) I395F probably damaging Het
Kif20a A G 18: 34,759,779 (GRCm39) E58G probably benign Het
Kras A T 6: 145,192,442 (GRCm39) D30E probably benign Het
Lmbrd1 C T 1: 24,724,593 (GRCm39) A59V probably damaging Het
Lrrc20 T C 10: 61,383,890 (GRCm39) L99P probably damaging Het
Mfn2 T C 4: 147,966,649 (GRCm39) D514G probably benign Het
Myl2 A G 5: 122,242,902 (GRCm39) E96G probably damaging Het
Nppb T G 4: 148,070,518 (GRCm39) L29R probably damaging Het
Or51f1e C T 7: 102,747,713 (GRCm39) A255V possibly damaging Het
Or5ak22 A G 2: 85,230,097 (GRCm39) V260A probably benign Het
Pcdhb14 A G 18: 37,581,281 (GRCm39) H129R probably damaging Het
Pex11g T C 8: 3,509,363 (GRCm39) N188S possibly damaging Het
Pla2g3 A G 11: 3,442,170 (GRCm39) D410G probably benign Het
Pnma1 C A 12: 84,194,232 (GRCm39) W157L probably benign Het
Pofut2 A G 10: 77,103,090 (GRCm39) Y362C probably damaging Het
Ppp1r14c C A 10: 3,373,567 (GRCm39) S126* probably null Het
Psg27 T C 7: 18,299,081 (GRCm39) H80R probably benign Het
Rere T A 4: 150,554,770 (GRCm39) V156D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Samd8 G A 14: 21,830,227 (GRCm39) V281I probably benign Het
Scarf1 A G 11: 75,404,401 (GRCm39) probably benign Het
Scgb2b27 A G 7: 33,712,722 (GRCm39) L40P probably benign Het
Sdk1 A T 5: 142,147,708 (GRCm39) H1780L probably benign Het
Slc10a6 T C 5: 103,754,521 (GRCm39) T337A probably benign Het
Slc44a4 A T 17: 35,140,219 (GRCm39) D208V probably benign Het
Slco1c1 G T 6: 141,493,553 (GRCm39) C363F probably benign Het
Smg5 T A 3: 88,261,848 (GRCm39) L707Q probably damaging Het
Supt5 A T 7: 28,016,412 (GRCm39) D789E probably benign Het
Tbcd A G 11: 121,464,648 (GRCm39) Y561C probably damaging Het
Tectb T C 19: 55,183,097 (GRCm39) L316P probably benign Het
Tnpo3 T C 6: 29,558,851 (GRCm39) H693R probably benign Het
Trim54 T G 5: 31,294,478 (GRCm39) D335E probably benign Het
Tsr1 A G 11: 74,790,126 (GRCm39) D107G probably benign Het
Ttc41 A T 10: 86,595,089 (GRCm39) E954D probably damaging Het
Ttn A G 2: 76,538,595 (GRCm39) L34701P possibly damaging Het
Vmn1r119 A C 7: 20,746,034 (GRCm39) V116G probably damaging Het
Vmn1r219 G A 13: 23,346,769 (GRCm39) probably benign Het
Zc3h12c T A 9: 52,028,010 (GRCm39) M470L probably benign Het
Zmynd8 T C 2: 165,654,668 (GRCm39) K615E possibly 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
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
Predicted Primers PCR Primer
(F):5'- GATAGTCCCAATACCCTGATGTG -3'
(R):5'- ATCTGTGTAGAAGTGGACCACG -3'

Sequencing Primer
(F):5'- GCTCACTTGGCCTCCTTCTACTAAG -3'
(R):5'- AAGTGGACCACGGGCTG -3'
Posted On 2022-04-18