Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03193:Tshb'

412701

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03193

Quality Score

Status

Chromosome

Chromosomal Location

102682781-102690034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102685515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 38 (Y38C)

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: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029450
Gene: ENSMUSG00000027857
AA Change: Y38C

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
GHB	18	126	5.13e-63	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170856
AA Change: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127165
Gene: ENSMUSG00000027857
AA Change: Y38C

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
GHB	18	126	5.13e-63	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172026
AA Change: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128440
Gene: ENSMUSG00000027857
AA Change: Y38C

Domain	Start	End	E-Value	Type
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: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142670
Gene: ENSMUSG00000027857
AA Change: Y38C

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	3	87	1.5e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197999

Predicted Effect

probably damaging
Transcript: ENSMUST00000200041
AA Change: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142782
Gene: ENSMUSG00000027857
AA Change: Y38C

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
GHB	18	126	5.13e-63	SMART

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Arhgef12	T	C	9: 42,903,829 (GRCm39)		probably benign	Het
Bmper	C	A	9: 23,277,544 (GRCm39)	H211Q	possibly damaging	Het
C130074G19Rik	A	T	1: 184,614,899 (GRCm39)	L97Q	probably damaging	Het
Csmd3	A	T	15: 47,492,626 (GRCm39)		probably benign	Het
Cyb561a3	T	C	19: 10,559,764 (GRCm39)	Y30H	probably benign	Het
Cyp2a22	T	A	7: 26,635,846 (GRCm39)	D239V	probably benign	Het
Fras1	A	T	5: 96,925,965 (GRCm39)	Y3723F	probably damaging	Het
Frem1	C	T	4: 82,912,263 (GRCm39)		probably benign	Het
Gm382	G	A	X: 125,971,321 (GRCm39)	A1169T	probably damaging	Het
Golga2	T	C	2: 32,195,020 (GRCm39)	L696P	probably damaging	Het
Gse1	G	T	8: 121,298,079 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,309,962 (GRCm39)	L1104P	probably benign	Het
Myh14	A	G	7: 44,279,369 (GRCm39)	V945A	possibly damaging	Het
Myo7a	A	G	7: 97,740,264 (GRCm39)	F577L	probably damaging	Het
Ndst2	A	T	14: 20,779,917 (GRCm39)	S108T	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Neo1	T	C	9: 58,815,767 (GRCm39)	Y836C	probably damaging	Het
Nlrp4e	T	C	7: 23,020,251 (GRCm39)	L246P	probably damaging	Het
Or52n2	A	G	7: 104,542,263 (GRCm39)	C191R	probably benign	Het
Osbpl9	A	G	4: 108,924,163 (GRCm39)	S471P	possibly damaging	Het
Patl1	T	A	19: 11,898,204 (GRCm39)	D127E	possibly damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Prlr	T	A	15: 10,328,376 (GRCm39)	S284T	possibly damaging	Het
Prps2	A	T	X: 166,157,080 (GRCm39)	N75K	possibly damaging	Het
Sec16b	A	T	1: 157,362,963 (GRCm39)	M265L	probably benign	Het
Slc9a2	G	T	1: 40,795,431 (GRCm39)	V511L	probably benign	Het
Tm9sf5	A	G	X: 56,463,503 (GRCm39)		probably benign	Het
Tnp1	G	A	1: 73,054,923 (GRCm39)	R34W	probably damaging	Het
Tpr	A	G	1: 150,315,831 (GRCm39)	D2036G	possibly damaging	Het
Trpm6	T	C	19: 18,803,236 (GRCm39)	V893A	possibly damaging	Het
Usp17lb	A	T	7: 104,490,484 (GRCm39)	S148T	possibly damaging	Het

Other mutations in Tshb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5589:Tshb	UTSW	3	102,685,478 (GRCm39)	nonsense	probably null
Z1177:Tshb	UTSW	3	102,685,489 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02