Incidental Mutation 'PIT4458001:Tshb'
ID 555900
Institutional Source Beutler Lab
Gene Symbol Tshb
Ensembl Gene ENSMUSG00000027857
Gene Name thyroid stimulating hormone, beta subunit
Synonyms thyrotropin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # PIT4458001 (G1)
Quality Score 161.009
Status Not validated
Chromosome 3
Chromosomal Location 102682781-102690034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102685480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 50 (Y50N)
Ref Sequence ENSEMBL: ENSMUSP00000142670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029450] [ENSMUST00000170856] [ENSMUST00000172026] [ENSMUST00000197322] [ENSMUST00000197345] [ENSMUST00000200041]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029450
AA Change: Y50N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029450
Gene: ENSMUSG00000027857
AA Change: Y50N

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170856
AA Change: Y50N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127165
Gene: ENSMUSG00000027857
AA Change: Y50N

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172026
AA Change: Y50N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128440
Gene: ENSMUSG00000027857
AA Change: Y50N

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197322
AA Change: Y50N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142670
Gene: ENSMUSG00000027857
AA Change: Y50N

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197345
SMART Domains Protein: ENSMUSP00000142543
Gene: ENSMUSG00000027858

DomainStartEndE-ValueType
Pfam:Tetraspannin 3 87 1.5e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200041
AA Change: Y50N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142782
Gene: ENSMUSG00000027857
AA Change: Y50N

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 73.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility and growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,248,304 (GRCm39) V2684L probably benign Het
Adamts9 T A 6: 92,866,886 (GRCm39) I718F probably damaging Het
Adcyap1r1 A G 6: 55,455,067 (GRCm39) D110G probably benign Het
Adgrd1 G A 5: 129,208,641 (GRCm39) G281D probably damaging Het
Afg1l A T 10: 42,330,366 (GRCm39) C100* probably null Het
Atp2a2 G A 5: 122,595,372 (GRCm39) Q993* probably null Het
Baz1a A G 12: 54,977,095 (GRCm39) M389T probably benign Het
Btnl4 T A 17: 34,693,242 (GRCm39) M58L probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cpeb1 A T 7: 80,998,180 (GRCm39) F533Y probably damaging Het
Ctnna1 T A 18: 35,308,179 (GRCm39) N166K possibly damaging Het
Ecsit T C 9: 21,987,580 (GRCm39) H153R probably damaging Het
Gbp8 T C 5: 105,162,955 (GRCm39) K480E probably benign Het
Glyat A T 19: 12,625,373 (GRCm39) T66S probably benign Het
Gm1110 T C 9: 26,792,124 (GRCm39) Q632R probably benign Het
Gm12185 C T 11: 48,798,738 (GRCm39) R585Q probably damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gm7489 A C 15: 53,749,195 (GRCm39) E89A unknown Het
Grb7 C T 11: 98,344,655 (GRCm39) Q353* probably null Het
Ifi207 G A 1: 173,562,738 (GRCm39) T136I unknown Het
Ighv3-1 T C 12: 113,928,224 (GRCm39) Y45C probably benign Het
Ing5 A G 1: 93,739,668 (GRCm39) M92V possibly damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Lmo7 C T 14: 102,124,923 (GRCm39) Q583* probably null Het
Lrrc37a T C 11: 103,395,338 (GRCm39) D29G probably benign Het
Mpdz G T 4: 81,337,263 (GRCm39) A10D probably damaging Het
Myh4 A G 11: 67,131,821 (GRCm39) M94V possibly damaging Het
Nectin2 A C 7: 19,472,252 (GRCm39) L46V probably benign Het
Nynrin A T 14: 56,101,425 (GRCm39) T365S probably benign Het
Or4c120 A T 2: 89,000,977 (GRCm39) I193K probably benign Het
Pde4b A C 4: 102,459,875 (GRCm39) E570A probably damaging Het
Phf3 T C 1: 30,855,622 (GRCm39) H988R probably damaging Het
Ppfia2 A G 10: 106,763,708 (GRCm39) K1234E probably benign Het
Prl7c1 A T 13: 27,957,741 (GRCm39) M233K probably benign Het
Prp2 C T 6: 132,577,510 (GRCm39) P266S unknown Het
Ralgds T C 2: 28,432,486 (GRCm39) L160P probably damaging Het
Rasa1 A T 13: 85,375,237 (GRCm39) M664K possibly damaging Het
Ryr2 T C 13: 11,570,334 (GRCm39) T4930A probably benign Het
Senp8 T C 9: 59,644,763 (GRCm39) Y131C probably damaging Het
Sp100 A G 1: 85,635,837 (GRCm39) I547M probably benign Het
Spata20 A G 11: 94,375,434 (GRCm39) M120T probably damaging Het
Spata31 A G 13: 65,069,664 (GRCm39) H604R probably benign Het
Sycp1 A T 3: 102,842,149 (GRCm39) S53T probably benign Het
Tgm1 T C 14: 55,950,022 (GRCm39) D62G unknown Het
Trpm1 G C 7: 63,918,309 (GRCm39) E1434Q possibly damaging Het
Wdr17 A T 8: 55,126,614 (GRCm39) Y413* probably null Het
Zdhhc16 G A 19: 41,926,209 (GRCm39) G55R possibly damaging Het
Other mutations in Tshb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03193:Tshb APN 3 102,685,515 (GRCm39) missense probably damaging 1.00
R1499:Tshb UTSW 3 102,685,624 (GRCm39) intron probably benign
R1945:Tshb UTSW 3 102,684,831 (GRCm39) nonsense probably null
R2051:Tshb UTSW 3 102,684,857 (GRCm39) missense probably benign 0.00
R2135:Tshb UTSW 3 102,685,464 (GRCm39) critical splice donor site probably null
R4625:Tshb UTSW 3 102,685,461 (GRCm39) splice site probably null
R4754:Tshb UTSW 3 102,685,491 (GRCm39) missense probably damaging 1.00
R5589:Tshb UTSW 3 102,685,478 (GRCm39) nonsense probably null
Z1177:Tshb UTSW 3 102,685,489 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGTACTTTCCTTTCTGAGTAGAG -3'
(R):5'- TATGCACAGACATGCCTCTGAG -3'

Sequencing Primer
(F):5'- CCTTTCTGAGTAGAGTCACACC -3'
(R):5'- GAGGACACTGTACTGAGCTC -3'
Posted On 2019-06-07