Incidental Mutation 'R0276:Thrsp'
ID 35370
Institutional Source Beutler Lab
Gene Symbol Thrsp
Ensembl Gene ENSMUSG00000035686
Gene Name thyroid hormone responsive
Synonyms Spot 14, S14
MMRRC Submission 038498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R0276 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 97412938-97417730 bp(-) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 97417502 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
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 probably null
Transcript: ENSMUST00000043077
AA Change: M1T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042988
Gene: ENSMUSG00000035686
AA Change: M1T

Pfam:Spot_14 1 149 2.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206613
Meta Mutation Damage Score 0.9444 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.2%
  • 20x: 93.8%
Validation Efficiency 98% (101/103)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,975,760 (GRCm38) N109S possibly damaging Het
Adcy10 T A 1: 165,572,591 (GRCm38) M1523K possibly damaging Het
Agtpbp1 C T 13: 59,462,031 (GRCm38) S1095N possibly damaging Het
Ang2 C T 14: 51,195,518 (GRCm38) V136I probably damaging Het
Arhgap10 A T 8: 77,413,581 (GRCm38) M250K probably benign Het
Arhgap33 A T 7: 30,523,244 (GRCm38) W1088R probably benign Het
Arhgef15 T C 11: 68,953,472 (GRCm38) probably benign Het
Aspm T C 1: 139,478,471 (GRCm38) S1699P possibly damaging Het
Atp12a C A 14: 56,387,694 (GRCm38) D1014E probably damaging Het
Atp1a4 T A 1: 172,257,901 (GRCm38) K45M probably damaging Het
Atp8a1 A T 5: 67,786,673 (GRCm38) probably benign Het
Baiap3 A C 17: 25,243,687 (GRCm38) F1099C probably damaging Het
Bcas3 T A 11: 85,470,837 (GRCm38) probably null Het
Bms1 G A 6: 118,408,134 (GRCm38) T371M possibly damaging Het
Camta1 C A 4: 151,075,140 (GRCm38) R1614L probably damaging Het
Capn3 T C 2: 120,488,065 (GRCm38) probably benign Het
Ccdc180 A G 4: 45,923,534 (GRCm38) D1105G probably damaging Het
Ccdc33 G T 9: 58,058,392 (GRCm38) P364Q probably damaging Het
Clstn3 A G 6: 124,431,740 (GRCm38) probably benign Het
Cntrl A T 2: 35,151,732 (GRCm38) Y619F possibly damaging Het
Col12a1 A T 9: 79,630,741 (GRCm38) Y2514* probably null Het
Cpt1b T C 15: 89,419,959 (GRCm38) H503R probably benign Het
Crb1 T A 1: 139,323,335 (GRCm38) T293S possibly damaging Het
D130043K22Rik C T 13: 24,858,045 (GRCm38) T319I possibly damaging Het
Dnaaf10 T C 11: 17,229,821 (GRCm38) I274T probably benign Het
Dzip1l G A 9: 99,660,998 (GRCm38) R502Q probably benign Het
Efcab5 G A 11: 77,140,923 (GRCm38) R42W probably damaging Het
Efcab5 A G 11: 77,129,876 (GRCm38) M673T probably damaging Het
F2rl3 A G 8: 72,762,798 (GRCm38) T218A probably benign Het
Fam135a C T 1: 24,067,964 (GRCm38) R31H probably damaging Het
Fcer2a A T 8: 3,689,811 (GRCm38) N53K possibly damaging Het
Golgb1 A C 16: 36,913,876 (GRCm38) K1162Q probably damaging Het
Gpr137b A T 13: 13,367,575 (GRCm38) probably benign Het
Haspin A T 11: 73,136,487 (GRCm38) L592Q probably damaging Het
Helq A G 5: 100,790,147 (GRCm38) F478L probably damaging Het
Iho1 A T 9: 108,428,440 (GRCm38) M11K possibly damaging Het
Il17rb T A 14: 30,004,380 (GRCm38) T84S probably damaging Het
Itga4 T C 2: 79,321,493 (GRCm38) L880P probably damaging Het
Itih5 A G 2: 10,185,564 (GRCm38) I61V possibly damaging Het
Ivl G A 3: 92,571,514 (GRCm38) L415F unknown Het
Kif2a A G 13: 106,976,650 (GRCm38) probably benign Het
Kmt2d T C 15: 98,850,311 (GRCm38) probably benign Het
Lars2 A G 9: 123,438,121 (GRCm38) probably benign Het
Lilrb4a T C 10: 51,491,581 (GRCm38) V73A probably benign Het
Lratd2 G T 15: 60,823,674 (GRCm38) Y74* probably null Het
Lrrc8a A G 2: 30,256,788 (GRCm38) D538G possibly damaging Het
Lrrk1 G A 7: 66,296,263 (GRCm38) probably benign Het
Mc2r A T 18: 68,408,132 (GRCm38) I30K possibly damaging Het
Mybbp1a C A 11: 72,450,107 (GRCm38) probably null Het
Napg C T 18: 62,986,963 (GRCm38) R149C probably damaging Het
Ncam2 A G 16: 81,517,629 (GRCm38) probably benign Het
Nlk T C 11: 78,571,475 (GRCm38) I509V probably benign Het
Nlrp2 A T 7: 5,328,109 (GRCm38) N429K probably benign Het
Nlrp9b A G 7: 20,028,498 (GRCm38) T247A probably benign Het
Noxo1 A T 17: 24,700,162 (GRCm38) probably null Het
Or1n1b A T 2: 36,890,023 (GRCm38) M275K probably benign Het
Or2ag2b A T 7: 106,818,697 (GRCm38) I205L probably benign Het
Or3a10 A G 11: 74,045,118 (GRCm38) I52T probably damaging Het
Or4c107 T A 2: 88,958,755 (GRCm38) C96* probably null Het
Or4m1 C A 14: 50,320,179 (GRCm38) A219S probably benign Het
Oxr1 T C 15: 41,820,062 (GRCm38) S294P probably damaging Het
Pfpl A G 19: 12,429,237 (GRCm38) Y284C probably damaging Het
Pi16 A T 17: 29,326,943 (GRCm38) T232S probably benign Het
Plcxd2 A T 16: 46,009,707 (GRCm38) N50K probably benign Het
Plekhn1 T A 4: 156,228,246 (GRCm38) N52Y probably damaging Het
Prl2c5 T C 13: 13,183,049 (GRCm38) probably benign Het
Prrc2b G A 2: 32,219,654 (GRCm38) V1080I probably damaging Het
Psg28 A T 7: 18,430,396 (GRCm38) N130K probably benign Het
Psme4 C A 11: 30,811,980 (GRCm38) T440K probably damaging Het
Ptcd2 T C 13: 99,321,596 (GRCm38) K296E probably benign Het
Ptprq T C 10: 107,542,735 (GRCm38) probably null Het
Rab5b A C 10: 128,686,746 (GRCm38) probably null Het
Rft1 T A 14: 30,690,583 (GRCm38) S534T probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Rsu1 A T 2: 13,170,135 (GRCm38) probably benign Het
Senp6 A G 9: 80,136,747 (GRCm38) M887V probably benign Het
Sgcz T A 8: 37,952,919 (GRCm38) M60L probably benign Het
Siglec1 G A 2: 131,083,941 (GRCm38) Q282* probably null Het
Sipa1l2 T C 8: 125,421,940 (GRCm38) T1655A probably damaging Het
Slc28a2b T A 2: 122,521,928 (GRCm38) S389T probably damaging Het
Slc43a3 G A 2: 84,937,663 (GRCm38) probably benign Het
Snx29 T C 16: 11,738,373 (GRCm38) V756A probably benign Het
Spta1 T A 1: 174,217,894 (GRCm38) H1539Q probably damaging Het
Stk3 A C 15: 35,099,469 (GRCm38) S104A probably damaging Het
Stk38 C A 17: 28,992,416 (GRCm38) probably null Het
Stx6 T C 1: 155,174,163 (GRCm38) probably benign Het
Thbs4 G A 13: 92,775,532 (GRCm38) T230I probably benign Het
Tmem63b A T 17: 45,675,373 (GRCm38) probably benign Het
Top2a A G 11: 99,009,907 (GRCm38) probably benign Het
Tpd52l2 T C 2: 181,502,059 (GRCm38) probably null Het
Trak1 A G 9: 121,454,338 (GRCm38) E390G probably damaging Het
Trappc3 T A 4: 126,273,952 (GRCm38) D101E possibly damaging Het
Trhr A G 15: 44,197,086 (GRCm38) M1V probably null Het
Triobp T A 15: 78,973,676 (GRCm38) I1159K probably benign Het
Unc45a A G 7: 80,326,297 (GRCm38) probably benign Het
Usb1 A G 8: 95,333,457 (GRCm38) D12G probably damaging Het
Ushbp1 C T 8: 71,394,649 (GRCm38) C113Y possibly damaging Het
Vim A G 2: 13,574,859 (GRCm38) K143R probably benign Het
Vmn2r75 T C 7: 86,148,307 (GRCm38) K766R probably benign Het
Xpo5 T G 17: 46,241,507 (GRCm38) C1089G probably damaging Het
Other mutations in Thrsp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0454:Thrsp UTSW 7 97,417,427 (GRCm38) missense probably damaging 1.00
R1809:Thrsp UTSW 7 97,417,125 (GRCm38) missense probably benign 0.15
R6037:Thrsp UTSW 7 97,417,292 (GRCm38) missense possibly damaging 0.86
R6037:Thrsp UTSW 7 97,417,292 (GRCm38) missense possibly damaging 0.86
R7241:Thrsp UTSW 7 97,417,088 (GRCm38) missense probably damaging 0.98
R7602:Thrsp UTSW 7 97,417,307 (GRCm38) missense probably damaging 1.00
R9294:Thrsp UTSW 7 97,417,074 (GRCm38) missense probably damaging 1.00
R9345:Thrsp UTSW 7 97,417,119 (GRCm38) missense possibly damaging 0.92
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09