Incidental Mutation 'R5589:Tshb'
ID 437336
Institutional Source Beutler Lab
Gene Symbol Tshb
Ensembl Gene ENSMUSG00000027857
Gene Name thyroid stimulating hormone, beta subunit
Synonyms thyrotropin
MMRRC Submission 043142-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R5589 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 102682781-102690034 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 102685478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 50 (Y50*)
Ref Sequence ENSEMBL: ENSMUSP00000142782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029450] [ENSMUST00000170856] [ENSMUST00000172026] [ENSMUST00000197322] [ENSMUST00000197345] [ENSMUST00000200041]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000029450
AA Change: Y50*
SMART Domains Protein: ENSMUSP00000029450
Gene: ENSMUSG00000027857
AA Change: Y50*

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Predicted Effect probably null
Transcript: ENSMUST00000170856
AA Change: Y50*
SMART Domains Protein: ENSMUSP00000127165
Gene: ENSMUSG00000027857
AA Change: Y50*

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172026
AA Change: Y50*
SMART Domains Protein: ENSMUSP00000128440
Gene: ENSMUSG00000027857
AA Change: Y50*

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196958
Predicted Effect probably null
Transcript: ENSMUST00000197322
AA Change: Y50*
SMART Domains Protein: ENSMUSP00000142670
Gene: ENSMUSG00000027857
AA Change: Y50*

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 null
Transcript: ENSMUST00000200041
AA Change: Y50*
SMART Domains Protein: ENSMUSP00000142782
Gene: ENSMUSG00000027857
AA Change: Y50*

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,468,066 (GRCm39) M76L probably benign Het
Adrm1b T A 3: 92,336,112 (GRCm39) probably benign Het
Alg1 T A 16: 5,053,086 (GRCm39) W116R probably benign Het
Ano3 A T 2: 110,715,340 (GRCm39) S33T probably damaging Het
Atp2b2 T C 6: 113,751,400 (GRCm39) E556G possibly damaging Het
Brca2 T A 5: 150,480,597 (GRCm39) I2761K possibly damaging Het
Ccdc68 G A 18: 70,079,577 (GRCm39) G141E probably benign Het
Cckbr T C 7: 105,083,732 (GRCm39) V220A probably damaging Het
Ccnd3 G A 17: 47,909,544 (GRCm39) R45Q probably damaging Het
Cdh24 G T 14: 54,874,832 (GRCm39) T391N probably damaging Het
Cldn11 A G 3: 31,204,395 (GRCm39) T33A probably damaging Het
Clec2e T A 6: 129,075,391 (GRCm39) Y50F probably benign Het
Cntnap1 A G 11: 101,075,944 (GRCm39) N943D probably benign Het
Cspg4b A G 13: 113,454,484 (GRCm39) R177G possibly damaging Het
Dmgdh T C 13: 93,813,665 (GRCm39) V70A probably damaging Het
Gm14496 C A 2: 181,637,674 (GRCm39) Y249* probably null Het
Gmnc T A 16: 26,781,714 (GRCm39) H105L probably damaging Het
Gpt2 A G 8: 86,219,740 (GRCm39) Y62C probably damaging Het
Ift80 T C 3: 68,838,233 (GRCm39) R413G probably damaging Het
Kctd16 C A 18: 40,392,061 (GRCm39) D216E probably damaging Het
Kif26b T C 1: 178,743,864 (GRCm39) V873A probably benign Het
Klra4 G T 6: 130,039,117 (GRCm39) Q92K probably benign Het
L1td1 C A 4: 98,626,341 (GRCm39) N845K possibly damaging Het
Lama3 C T 18: 12,605,277 (GRCm39) T1077I possibly damaging Het
Loxhd1 T C 18: 77,429,751 (GRCm39) I230T possibly damaging Het
Lsg1 T C 16: 30,399,819 (GRCm39) N160S probably damaging Het
Lyzl4 G A 9: 121,413,469 (GRCm39) R24C probably damaging Het
Mib1 A G 18: 10,794,488 (GRCm39) N658S probably benign Het
Mmp8 T C 9: 7,566,275 (GRCm39) I377T probably damaging Het
Mtmr14 T C 6: 113,238,243 (GRCm39) probably null Het
Myo1c A G 11: 75,548,414 (GRCm39) T58A possibly damaging Het
Myo9a C T 9: 59,802,527 (GRCm39) Q2005* probably null Het
Neu3 G T 7: 99,472,636 (GRCm39) P34T probably benign Het
Nlrp4b G A 7: 10,449,512 (GRCm39) V205I probably benign Het
Or4b1b C T 2: 90,112,313 (GRCm39) G202D probably damaging Het
Or4k38 T C 2: 111,165,850 (GRCm39) N191S possibly damaging Het
Or5h23 A T 16: 58,906,334 (GRCm39) S171T probably benign Het
Or5t15 A G 2: 86,681,118 (GRCm39) I308T unknown Het
Or6c66 T G 10: 129,461,319 (GRCm39) T204P probably damaging Het
Or9m1 T C 2: 87,733,691 (GRCm39) T110A probably benign Het
Pcsk6 T C 7: 65,578,933 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,893 (GRCm39) V288A probably benign Het
Plcd3 T C 11: 102,968,629 (GRCm39) D354G probably benign Het
Prkdc C A 16: 15,524,655 (GRCm39) N1219K probably benign Het
Prl3d1 T A 13: 27,278,927 (GRCm39) Y41N probably damaging Het
Qrich2 C T 11: 116,332,234 (GRCm39) G2321R probably damaging Het
Rrbp1 T C 2: 143,831,886 (GRCm39) I94V probably benign Het
Serinc1 C A 10: 57,399,262 (GRCm39) V214L probably benign Het
Serpina9 G T 12: 103,967,728 (GRCm39) N222K probably benign Het
Smchd1 A G 17: 71,747,956 (GRCm39) Y429H probably damaging Het
Smyd1 C T 6: 71,239,164 (GRCm39) V9M probably damaging Het
Sostdc1 C T 12: 36,367,246 (GRCm39) Q141* probably null Het
Spam1 C T 6: 24,796,109 (GRCm39) T20I probably benign Het
Tex47 T C 5: 7,354,834 (GRCm39) V5A probably benign Het
Thbs4 T C 13: 92,912,582 (GRCm39) probably null Het
Trim45 C T 3: 100,837,257 (GRCm39) P531L probably damaging Het
Ttn T C 2: 76,599,320 (GRCm39) I19230V probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uba6 G A 5: 86,270,288 (GRCm39) T832I probably damaging Het
Unc13d A T 11: 115,960,579 (GRCm39) V497D probably damaging Het
Usp13 T C 3: 32,892,007 (GRCm39) V62A probably damaging Het
Vmn1r215 A C 13: 23,260,189 (GRCm39) L76F probably damaging Het
Vmn1r215 G T 13: 23,260,190 (GRCm39) G77C probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zbtb40 T C 4: 136,722,594 (GRCm39) D828G probably damaging Het
Zfp74 A T 7: 29,633,990 (GRCm39) C573S probably damaging Het
Other mutations in Tshb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03193:Tshb APN 3 102,685,515 (GRCm39) missense probably damaging 1.00
PIT4458001:Tshb UTSW 3 102,685,480 (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
Z1177:Tshb UTSW 3 102,685,489 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGTACTTTCCTTTCTGAGTAGAG -3'
(R):5'- CATATGCACAGACATGCCTCTG -3'

Sequencing Primer
(F):5'- CCTTTCTGAGTAGAGTCACACC -3'
(R):5'- GAGGACACTGTACTGAGCTC -3'
Posted On 2016-10-26