Incidental Mutation 'R4754:Tshb'
ID 357782
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 # R4754 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 102682781-102690034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102685491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 46 (I46N)
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 damaging
Transcript: ENSMUST00000029450
AA Change: I46N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029450
Gene: ENSMUSG00000027857
AA Change: I46N

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: I46N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127165
Gene: ENSMUSG00000027857
AA Change: I46N

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: I46N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128440
Gene: ENSMUSG00000027857
AA Change: I46N

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 damaging
Transcript: ENSMUST00000197322
AA Change: I46N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142670
Gene: ENSMUSG00000027857
AA Change: I46N

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: I46N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142782
Gene: ENSMUSG00000027857
AA Change: I46N

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
GHB 18 126 5.13e-63 SMART
Meta Mutation Damage Score 0.7948 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (107/109)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,837 (GRCm39) Y63C probably damaging Het
Abcb4 C A 5: 8,960,717 (GRCm39) F266L probably damaging Het
Adam8 A T 7: 139,564,693 (GRCm39) I681N possibly damaging Het
Adgrf3 T A 5: 30,402,615 (GRCm39) probably null Het
Ang2 A G 14: 51,432,974 (GRCm39) V136A probably damaging Het
Ankar C T 1: 72,737,853 (GRCm39) G110R probably damaging Het
Ap3b1 T C 13: 94,540,468 (GRCm39) L130P probably damaging Het
Apc2 T G 10: 80,150,192 (GRCm39) W1749G probably benign Het
Asb2 T C 12: 103,290,096 (GRCm39) N565S possibly damaging Het
B3gnt7 C A 1: 86,233,279 (GRCm39) T58K probably benign Het
Bltp1 C T 3: 37,076,615 (GRCm39) Q3663* probably null Het
Brpf1 T A 6: 113,297,408 (GRCm39) N876K possibly damaging Het
Ccdc157 T C 11: 4,098,994 (GRCm39) I69V possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh20 A T 1: 104,912,410 (GRCm39) I555F probably damaging Het
Cfap73 T C 5: 120,767,729 (GRCm39) D274G probably damaging Het
Chd5 T A 4: 152,462,203 (GRCm39) I1310N probably damaging Het
Ckap2 T A 8: 22,658,911 (GRCm39) I611F possibly damaging Het
Cpeb2 A G 5: 43,443,200 (GRCm39) I964V possibly damaging Het
Ctbp2 C A 7: 132,625,287 (GRCm39) probably null Het
Dhrs2 A T 14: 55,476,205 (GRCm39) I142F probably damaging Het
Dnah5 T A 15: 28,421,101 (GRCm39) probably null Het
Dst T C 1: 34,251,390 (GRCm39) S1822P probably damaging Het
Ect2 T C 3: 27,181,112 (GRCm39) K581E probably damaging Het
Edem1 C T 6: 108,818,658 (GRCm39) T222M probably damaging Het
Eif2ak1 A G 5: 143,838,621 (GRCm39) M592V probably damaging Het
Endou T G 15: 97,624,420 (GRCm39) D49A probably damaging Het
Ensa A G 3: 95,529,865 (GRCm39) probably benign Het
Evc2 G T 5: 37,544,375 (GRCm39) R708L probably damaging Het
Fam120b T A 17: 15,643,224 (GRCm39) C668S probably damaging Het
Fam135a A T 1: 24,067,835 (GRCm39) C798* probably null Het
Fam135b T C 15: 71,334,800 (GRCm39) D798G probably benign Het
Fshb A C 2: 106,887,627 (GRCm39) *131E probably null Het
G3bp2 C T 5: 92,202,768 (GRCm39) V441M possibly damaging Het
Galnt6 A T 15: 100,597,105 (GRCm39) F354I probably damaging Het
Gm1123 C A 9: 98,905,293 (GRCm39) probably null Het
Gm1123 A T 9: 98,905,294 (GRCm39) probably null Het
Gm15130 T C 2: 110,973,207 (GRCm39) N115S unknown Het
Gm7104 A G 12: 88,252,765 (GRCm39) noncoding transcript Het
Gm9762 A T 3: 78,873,728 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,756,173 (GRCm39) T505A probably damaging Het
Grip2 A G 6: 91,756,163 (GRCm39) V508A probably damaging Het
Haus4 A G 14: 54,787,349 (GRCm39) probably null Het
Herc1 T A 9: 66,408,488 (GRCm39) D4571E probably benign Het
Hnrnpk T A 13: 58,546,950 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,321 (GRCm39) Y23C probably damaging Het
Kansl2-ps A G 7: 72,322,881 (GRCm39) noncoding transcript Het
Kcnma1 T C 14: 23,413,904 (GRCm39) D833G probably damaging Het
Kmt2e A T 5: 23,687,439 (GRCm39) I430F possibly damaging Het
Lama2 C A 10: 26,994,527 (GRCm39) R1794L possibly damaging Het
Mcpt1 T A 14: 56,256,137 (GRCm39) F59I probably damaging Het
Mib2 G T 4: 155,739,822 (GRCm39) T783K possibly damaging Het
Nlrp4g T C 9: 124,349,788 (GRCm38) noncoding transcript Het
Nudt16l2 A T 9: 105,021,592 (GRCm39) F151L probably benign Het
Obscn T C 11: 58,926,869 (GRCm39) I6352V possibly damaging Het
Or2j6 C T 7: 139,980,072 (GRCm39) A296T probably damaging Het
Or4a72 A T 2: 89,405,391 (GRCm39) H226Q probably benign Het
Or4k1 T A 14: 50,377,490 (GRCm39) N202I possibly damaging Het
Or4k1 T G 14: 50,377,491 (GRCm39) N202H probably benign Het
Or52a5 T C 7: 103,426,875 (GRCm39) I226V probably benign Het
Or5b125-ps1 T A 19: 13,056,225 (GRCm39) noncoding transcript Het
Pcdh10 G A 3: 45,335,072 (GRCm39) R462H probably damaging Het
Pcdhga12 C A 18: 37,899,604 (GRCm39) N145K probably damaging Het
Pik3r6 T A 11: 68,435,601 (GRCm39) L613Q probably damaging Het
Pknox2 T C 9: 36,821,016 (GRCm39) D282G probably damaging Het
Plod2 T G 9: 92,488,584 (GRCm39) Y624* probably null Het
Prkd3 C A 17: 79,264,043 (GRCm39) V684F probably damaging Het
Ptpn1 T A 2: 167,816,080 (GRCm39) V198D probably damaging Het
Ptpn12 G T 5: 21,203,587 (GRCm39) P397Q probably benign Het
Rad1 C A 15: 10,493,212 (GRCm39) probably benign Het
Rasl11a A G 5: 146,783,825 (GRCm39) D90G probably benign Het
Rnf181 A G 6: 72,337,543 (GRCm39) probably benign Het
Ryr3 T C 2: 112,587,984 (GRCm39) I2652M possibly damaging Het
Siglecg C T 7: 43,061,295 (GRCm39) probably benign Het
Slc22a3 T C 17: 12,726,082 (GRCm39) S44G probably benign Het
Slc38a1 A T 15: 96,474,663 (GRCm39) F463I probably damaging Het
Smg1 A T 7: 117,755,954 (GRCm39) probably benign Het
Syk T C 13: 52,766,295 (GRCm39) probably benign Het
Tasor A T 14: 27,183,052 (GRCm39) I504L probably benign Het
Tbc1d5 T C 17: 51,107,193 (GRCm39) I454M probably benign Het
Tmed6 C A 8: 107,790,362 (GRCm39) D146Y probably damaging Het
Tmem132e A T 11: 82,335,677 (GRCm39) K828* probably null Het
Tmprss15 A T 16: 78,851,012 (GRCm39) S294T probably damaging Het
Trp53bp1 A G 2: 121,038,360 (GRCm39) S1493P probably damaging Het
Tspan11 T C 6: 127,915,183 (GRCm39) V99A probably benign Het
Ttn T C 2: 76,545,905 (GRCm39) T24176A probably benign Het
Vmn1r8 T C 6: 57,012,952 (GRCm39) M1T probably null Het
Vmn2r104 A T 17: 20,261,030 (GRCm39) Y464* probably null Het
Vmn2r110 T C 17: 20,816,458 (GRCm39) T22A probably benign Het
Vmn2r17 T A 5: 109,600,715 (GRCm39) I671K probably damaging Het
Zbtb21 T C 16: 97,752,466 (GRCm39) N606D probably damaging Het
Zfy2 A T Y: 2,121,477 (GRCm39) S139T probably benign Het
Zkscan17 G A 11: 59,393,851 (GRCm39) R156* probably null Het
Zp2 A G 7: 119,737,541 (GRCm39) V248A probably benign 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
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'- CCTGTACTTTCCTTTCTGAGTAGAG -3'
(R):5'- TATGCACAGACATGCCTCTGAG -3'

Sequencing Primer
(F):5'- CCTTTCTGAGTAGAGTCACACC -3'
(R):5'- AGAGGACACTGTACTGAGCTCTTTG -3'
Posted On 2015-11-11