Incidental Mutation 'R4625:Tshb'
ID 346473
Institutional Source Beutler Lab
Gene Symbol Tshb
Ensembl Gene ENSMUSG00000027857
Gene Name thyroid stimulating hormone, beta subunit
Synonyms thyrotropin
MMRRC Submission 041890-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R4625 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 102682781-102690034 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 102685461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000029450
Gene: ENSMUSG00000027857

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

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

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
SMART Domains Protein: ENSMUSP00000142670
Gene: ENSMUSG00000027857

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
SMART Domains Protein: ENSMUSP00000142782
Gene: ENSMUSG00000027857

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (75/77)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A C 5: 144,981,693 (GRCm39) E176A possibly damaging Het
Abcc2 A G 19: 43,792,178 (GRCm39) I320V probably benign Het
Abtb1 C T 6: 88,813,269 (GRCm39) A466T probably benign Het
Ak6 C A 13: 100,792,181 (GRCm39) T208K probably benign Het
Albfm1 G T 5: 90,719,611 (GRCm39) V236L probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Anapc15 T A 7: 101,550,239 (GRCm39) probably benign Het
Anxa2r1 G T 13: 120,496,765 (GRCm39) R35S possibly damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Aspn A G 13: 49,710,901 (GRCm39) D182G probably benign Het
Astn1 A T 1: 158,407,864 (GRCm39) D607V probably damaging Het
Btnl1 A G 17: 34,598,725 (GRCm39) I114V probably null Het
Ccdc159 A G 9: 21,840,762 (GRCm39) S110G probably benign Het
Cdh18 A C 15: 22,714,128 (GRCm39) probably benign Het
Cdh22 A G 2: 164,954,526 (GRCm39) I665T probably damaging Het
Cenpk T A 13: 104,385,901 (GRCm39) H265Q possibly damaging Het
Chd6 A G 2: 160,811,412 (GRCm39) L1397P probably damaging Het
Chia1 A C 3: 106,036,256 (GRCm39) N279H probably benign Het
Cyp8b1 T C 9: 121,744,651 (GRCm39) E227G probably damaging Het
Dmxl2 A T 9: 54,311,404 (GRCm39) N1772K possibly damaging Het
Dnah2 A G 11: 69,354,487 (GRCm39) S2244P probably damaging Het
Fshr T C 17: 89,293,148 (GRCm39) Y510C probably damaging Het
Gm5087 T C 14: 13,158,798 (GRCm38) noncoding transcript Het
Gm7135 A C 1: 97,387,351 (GRCm39) noncoding transcript Het
Hnrnpll A T 17: 80,358,291 (GRCm39) Y153* probably null Het
Htt T A 5: 34,987,129 (GRCm39) V1116E probably damaging Het
Ikzf5 A T 7: 130,995,482 (GRCm39) probably null Het
Kcnb1 A G 2: 167,030,153 (GRCm39) S131P probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Kif1a A T 1: 92,970,381 (GRCm39) D952E probably benign Het
Klf4 A G 4: 55,530,370 (GRCm39) V247A probably benign Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lamc1 A G 1: 153,118,442 (GRCm39) S910P probably benign Het
Lin9 T A 1: 180,516,845 (GRCm39) N512K probably damaging Het
Mroh2a A T 1: 88,182,687 (GRCm39) N1205I possibly damaging Het
Mrps30 A G 13: 118,523,250 (GRCm39) V174A probably benign Het
Myo1g T C 11: 6,462,240 (GRCm39) E574G probably damaging Het
Nphp3 G A 9: 103,913,358 (GRCm39) G997R possibly damaging Het
Obscn A G 11: 58,958,084 (GRCm39) C3748R probably damaging Het
Or1j17 A G 2: 36,578,083 (GRCm39) D23G probably benign Het
Or5p69 T C 7: 107,966,895 (GRCm39) L66P probably damaging Het
Or8g28 A T 9: 39,169,614 (GRCm39) M118K probably damaging Het
Or9s18 T A 13: 65,300,674 (GRCm39) V212D possibly damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Ptch1 T C 13: 63,670,978 (GRCm39) T851A probably benign Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rbp3 A G 14: 33,678,056 (GRCm39) Q668R probably benign Het
Rfwd3 T C 8: 112,002,990 (GRCm39) T611A probably benign Het
Rhcg T A 7: 79,251,352 (GRCm39) D219V probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Slc25a26 G T 6: 94,484,633 (GRCm39) V58F probably damaging Het
Smarca5 T A 8: 81,437,192 (GRCm39) K721N probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Speer2 A T 16: 69,655,642 (GRCm39) Y61* probably null Het
Spef2 T C 15: 9,647,524 (GRCm39) Y961C probably damaging Het
Sptb C A 12: 76,634,100 (GRCm39) probably null Het
Svep1 T G 4: 58,072,698 (GRCm39) N2204H probably damaging Het
Tex56 G A 13: 35,116,448 (GRCm39) G66S probably damaging Het
Tmem86a C A 7: 46,702,613 (GRCm39) P13T probably damaging Het
Tmt1a A T 15: 100,210,939 (GRCm39) Q170L probably damaging Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Tox2 G A 2: 163,156,336 (GRCm39) S211N possibly damaging Het
Trpc6 A T 9: 8,677,963 (GRCm39) E762D probably benign Het
Ttc3 T A 16: 94,189,131 (GRCm39) L163* probably null Het
Twsg1 G T 17: 66,236,546 (GRCm39) D161E probably benign Het
Uchl4 A C 9: 64,143,080 (GRCm39) D187A probably damaging Het
Vmn2r104 A T 17: 20,268,443 (GRCm39) W9R probably benign Het
Yju2 T A 17: 56,271,598 (GRCm39) L173Q probably damaging Het
Zfp14 G A 7: 29,738,020 (GRCm39) Q322* probably null Het
Znhit3 G A 11: 84,802,316 (GRCm39) P145S 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
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'- CTGTTACAAATGCACCTGTACTTTC -3'
(R):5'- TGCACAGACATGCCTCTGAG -3'

Sequencing Primer
(F):5'- CCTTTCTGAGTAGAGTCACACC -3'
(R):5'- GAGGACACTGTACTGAGCTC -3'
Posted On 2015-09-25