Mutagenetix > Incidental Mutation

Incidental Mutation 'P0019:Tg'

7674

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000053469

Gene Name

thyroglobulin

Synonyms

Tgn

MMRRC Submission

038272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

P0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

66542606-66722570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66560712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 10 (S10P)

Ref Sequence

ENSEMBL: ENSMUSP00000129868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065916] [ENSMUST00000163495]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065916
AA Change: S1025P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070239
Gene: ENSMUSG00000053469
AA Change: S1025P

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TY	50	97	5.9e-16	SMART
TY	118	165	5.59e-17	SMART
Pfam:Thyroglobulin_1	174	252	4e-9	PFAM
TY	317	363	4.36e-19	SMART
low complexity region	495	504	N/A	INTRINSIC
TY	617	662	3.58e-15	SMART
TY	684	730	1.47e-16	SMART
TY	880	926	1.51e-4	SMART
TY	1029	1078	1.21e-12	SMART
TY	1106	1150	7.56e-5	SMART
TY	1167	1215	7.26e-16	SMART
low complexity region	1244	1255	N/A	INTRINSIC
Pfam:GCC2_GCC3	1464	1509	2.7e-16	PFAM
TY	1519	1568	9.81e-13	SMART
Pfam:COesterase	2181	2717	8.4e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163495
AA Change: S10P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129868
Gene: ENSMUSG00000053469
AA Change: S10P

Domain	Start	End	E-Value	Type
TY	14	63	1.21e-12	SMART

Meta Mutation Damage Score

0.1434

Coding Region Coverage

1x: 84.9%
3x: 79.8%
10x: 64.3%
20x: 46.6%

Validation Efficiency

63% (57/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	G	A	9: 53,376,328 (GRCm39)		probably benign	Het
Cul7	T	C	17: 46,971,173 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,840,130 (GRCm39)	S1255G	probably benign	Het
Gzf1	A	G	2: 148,525,900 (GRCm39)	T124A	probably damaging	Het
Mccc1	A	T	3: 36,018,544 (GRCm39)	S597T	probably benign	Het
Nlrp4a	A	G	7: 26,149,062 (GRCm39)	E223G	probably damaging	Het
Ptprs	C	A	17: 56,754,474 (GRCm39)		probably benign	Het
Slitrk5	A	G	14: 111,918,026 (GRCm39)	D550G	possibly damaging	Het
Tmprss7	C	T	16: 45,501,096 (GRCm39)	R235Q	probably benign	Het
Ubr4	C	T	4: 139,179,092 (GRCm39)	P2001S	probably damaging	Het

Other mutations in Tg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Tg	APN	15	66,719,015 (GRCm39)	missense	probably damaging	1.00
IGL00230:Tg	APN	15	66,699,139 (GRCm39)	missense	probably benign	0.00
IGL00324:Tg	APN	15	66,565,273 (GRCm39)	missense	probably benign
IGL00428:Tg	APN	15	66,645,273 (GRCm39)	missense	probably benign	0.33
IGL00703:Tg	APN	15	66,568,338 (GRCm39)	missense	probably benign	0.34
IGL00808:Tg	APN	15	66,555,662 (GRCm39)	missense	probably damaging	1.00
IGL00833:Tg	APN	15	66,560,650 (GRCm39)	missense	probably benign	0.34
IGL00899:Tg	APN	15	66,545,922 (GRCm39)	critical splice donor site	probably null
IGL00921:Tg	APN	15	66,636,302 (GRCm39)	missense	probably benign	0.28
IGL00975:Tg	APN	15	66,553,731 (GRCm39)	missense	probably benign
IGL01288:Tg	APN	15	66,608,125 (GRCm39)	missense	possibly damaging	0.81
IGL01397:Tg	APN	15	66,567,941 (GRCm39)	splice site	probably benign
IGL01634:Tg	APN	15	66,601,415 (GRCm39)	missense	probably benign	0.34
IGL01646:Tg	APN	15	66,549,936 (GRCm39)	missense	probably damaging	1.00
IGL01704:Tg	APN	15	66,543,200 (GRCm39)	missense	probably damaging	0.98
IGL01958:Tg	APN	15	66,631,335 (GRCm39)	missense	probably benign	0.06
IGL02093:Tg	APN	15	66,564,223 (GRCm39)	missense	possibly damaging	0.83
IGL02113:Tg	APN	15	66,577,179 (GRCm39)	missense	probably benign	0.08
IGL02138:Tg	APN	15	66,589,082 (GRCm39)	missense	probably benign	0.01
IGL02156:Tg	APN	15	66,577,197 (GRCm39)	missense	probably benign	0.19
IGL02169:Tg	APN	15	66,629,792 (GRCm39)	missense	probably benign	0.04
IGL02342:Tg	APN	15	66,636,140 (GRCm39)	missense	probably benign
IGL02434:Tg	APN	15	66,636,191 (GRCm39)	missense	probably damaging	0.97
IGL02506:Tg	APN	15	66,613,443 (GRCm39)	missense	possibly damaging	0.71
IGL02513:Tg	APN	15	66,577,123 (GRCm39)	missense	probably benign
IGL02549:Tg	APN	15	66,711,210 (GRCm39)	missense	probably damaging	1.00
IGL02669:Tg	APN	15	66,620,575 (GRCm39)	splice site	probably benign
IGL02756:Tg	APN	15	66,606,435 (GRCm39)	missense	probably benign
IGL02800:Tg	APN	15	66,629,735 (GRCm39)	missense	probably damaging	1.00
IGL02828:Tg	APN	15	66,554,243 (GRCm39)	missense	probably damaging	1.00
IGL02927:Tg	APN	15	66,549,942 (GRCm39)	missense	probably damaging	1.00
IGL03061:Tg	APN	15	66,543,254 (GRCm39)	missense	probably damaging	1.00
IGL03105:Tg	APN	15	66,586,955 (GRCm39)	missense	probably benign	0.01
IGL03160:Tg	APN	15	66,711,152 (GRCm39)	nonsense	probably null
IGL03242:Tg	APN	15	66,555,647 (GRCm39)	missense	probably damaging	0.99
Also_ran	UTSW	15	66,550,688 (GRCm39)	missense	probably damaging	1.00
bedraggled	UTSW	15	66,612,563 (GRCm39)	missense	probably damaging	1.00
foster	UTSW	15	66,565,109 (GRCm39)	nonsense	probably null
hognose	UTSW	15	66,589,057 (GRCm39)	missense	probably damaging	0.99
ito	UTSW	15	66,638,011 (GRCm39)	nonsense	probably null
ito2	UTSW	15	66,543,245 (GRCm39)	missense	probably damaging	1.00
ito3	UTSW	15	66,645,323 (GRCm39)	missense	probably damaging	1.00
ito4	UTSW	15	66,568,369 (GRCm39)	missense	possibly damaging	0.47
Papua	UTSW	15	66,545,899 (GRCm39)	missense	probably damaging	1.00
Pipistrella	UTSW	15	66,567,984 (GRCm39)	missense	probably damaging	1.00
pluribus	UTSW	15	66,587,012 (GRCm39)	missense	probably damaging	0.98
samarai	UTSW	15	66,629,855 (GRCm39)	critical splice donor site	probably null
sariba	UTSW	15	66,566,719 (GRCm39)	missense	probably benign	0.01
ticker	UTSW	15	66,699,231 (GRCm39)	nonsense	probably null
Vampire	UTSW	15	66,554,676 (GRCm39)	missense	probably damaging	1.00
IGL03134:Tg	UTSW	15	66,612,567 (GRCm39)	missense	probably damaging	1.00
R0121:Tg	UTSW	15	66,612,630 (GRCm39)	missense	probably benign	0.04
R0135:Tg	UTSW	15	66,566,719 (GRCm39)	missense	probably benign	0.01
R0227:Tg	UTSW	15	66,570,295 (GRCm39)	missense	possibly damaging	0.84
R0448:Tg	UTSW	15	66,636,291 (GRCm39)	missense	probably damaging	1.00
R0453:Tg	UTSW	15	66,700,382 (GRCm39)	missense	probably benign	0.09
R0504:Tg	UTSW	15	66,554,253 (GRCm39)	missense	probably damaging	0.97
R0543:Tg	UTSW	15	66,601,446 (GRCm39)	missense	probably benign	0.13
R0638:Tg	UTSW	15	66,589,057 (GRCm39)	missense	probably damaging	0.99
R0639:Tg	UTSW	15	66,613,333 (GRCm39)	critical splice acceptor site	probably null
R0646:Tg	UTSW	15	66,601,475 (GRCm39)	missense	probably damaging	0.99
R0666:Tg	UTSW	15	66,609,370 (GRCm39)	missense	probably benign
R0673:Tg	UTSW	15	66,613,333 (GRCm39)	critical splice acceptor site	probably null
R0689:Tg	UTSW	15	66,711,253 (GRCm39)	splice site	probably benign
R0704:Tg	UTSW	15	66,629,729 (GRCm39)	missense	probably benign	0.02
R0730:Tg	UTSW	15	66,550,638 (GRCm39)	missense	probably damaging	1.00
R0830:Tg	UTSW	15	66,596,993 (GRCm39)	missense	probably damaging	1.00
R0959:Tg	UTSW	15	66,579,859 (GRCm39)	missense	probably damaging	0.98
R1027:Tg	UTSW	15	66,544,258 (GRCm39)	missense	possibly damaging	0.65
R1061:Tg	UTSW	15	66,570,408 (GRCm39)	missense	probably benign	0.09
R1086:Tg	UTSW	15	66,555,911 (GRCm39)	missense	probably benign
R1103:Tg	UTSW	15	66,591,504 (GRCm39)	missense	probably benign	0.45
R1240:Tg	UTSW	15	66,700,397 (GRCm39)	missense	probably benign	0.16
R1281:Tg	UTSW	15	66,568,338 (GRCm39)	missense	probably benign	0.34
R1470:Tg	UTSW	15	66,721,312 (GRCm39)	missense	possibly damaging	0.95
R1470:Tg	UTSW	15	66,721,312 (GRCm39)	missense	possibly damaging	0.95
R1531:Tg	UTSW	15	66,722,351 (GRCm39)	missense	probably benign	0.02
R1544:Tg	UTSW	15	66,577,081 (GRCm39)	missense	probably benign	0.04
R1550:Tg	UTSW	15	66,565,279 (GRCm39)	missense	possibly damaging	0.52
R1575:Tg	UTSW	15	66,601,534 (GRCm39)	critical splice donor site	probably null
R1638:Tg	UTSW	15	66,568,015 (GRCm39)	nonsense	probably null
R1655:Tg	UTSW	15	66,700,417 (GRCm39)	critical splice donor site	probably null
R1671:Tg	UTSW	15	66,564,236 (GRCm39)	missense	possibly damaging	0.89
R1789:Tg	UTSW	15	66,609,397 (GRCm39)	missense	probably benign	0.00
R1883:Tg	UTSW	15	66,543,158 (GRCm39)	missense	probably damaging	1.00
R1984:Tg	UTSW	15	66,554,691 (GRCm39)	missense	probably benign
R2063:Tg	UTSW	15	66,700,402 (GRCm39)	missense	probably damaging	1.00
R2092:Tg	UTSW	15	66,721,456 (GRCm39)	missense	probably null	0.26
R2109:Tg	UTSW	15	66,601,443 (GRCm39)	missense	probably benign	0.02
R2128:Tg	UTSW	15	66,566,743 (GRCm39)	missense	probably benign	0.10
R2129:Tg	UTSW	15	66,566,743 (GRCm39)	missense	probably benign	0.10
R2207:Tg	UTSW	15	66,553,788 (GRCm39)	missense	probably benign	0.15
R2219:Tg	UTSW	15	66,553,782 (GRCm39)	missense	probably benign	0.03
R2228:Tg	UTSW	15	66,545,860 (GRCm39)	missense	probably damaging	0.99
R2229:Tg	UTSW	15	66,545,860 (GRCm39)	missense	probably damaging	0.99
R2259:Tg	UTSW	15	66,555,747 (GRCm39)	missense	probably benign
R2994:Tg	UTSW	15	66,553,802 (GRCm39)	missense	probably benign
R3904:Tg	UTSW	15	66,638,011 (GRCm39)	nonsense	probably null
R3946:Tg	UTSW	15	66,545,872 (GRCm39)	missense	probably damaging	1.00
R3965:Tg	UTSW	15	66,556,039 (GRCm39)	missense	probably benign
R4245:Tg	UTSW	15	66,568,318 (GRCm39)	missense	possibly damaging	0.68
R4451:Tg	UTSW	15	66,637,996 (GRCm39)	missense	probably benign	0.01
R4487:Tg	UTSW	15	66,543,245 (GRCm39)	missense	probably damaging	1.00
R4489:Tg	UTSW	15	66,579,791 (GRCm39)	missense	probably damaging	1.00
R4623:Tg	UTSW	15	66,607,120 (GRCm39)	missense	probably benign	0.23
R4659:Tg	UTSW	15	66,545,769 (GRCm39)	missense	possibly damaging	0.67
R4728:Tg	UTSW	15	66,554,676 (GRCm39)	missense	probably damaging	1.00
R4760:Tg	UTSW	15	66,565,168 (GRCm39)	missense	probably damaging	1.00
R4797:Tg	UTSW	15	66,629,855 (GRCm39)	critical splice donor site	probably null
R4944:Tg	UTSW	15	66,636,186 (GRCm39)	missense	probably damaging	1.00
R4998:Tg	UTSW	15	66,545,899 (GRCm39)	missense	probably damaging	1.00
R5009:Tg	UTSW	15	66,568,435 (GRCm39)	missense	probably benign	0.01
R5025:Tg	UTSW	15	66,579,779 (GRCm39)	missense	probably damaging	1.00
R5035:Tg	UTSW	15	66,553,662 (GRCm39)	splice site	probably null
R5049:Tg	UTSW	15	66,699,231 (GRCm39)	nonsense	probably null
R5073:Tg	UTSW	15	66,607,101 (GRCm39)	missense	probably benign	0.05
R5169:Tg	UTSW	15	66,550,629 (GRCm39)	nonsense	probably null
R5185:Tg	UTSW	15	66,645,323 (GRCm39)	missense	probably damaging	1.00
R5227:Tg	UTSW	15	66,631,416 (GRCm39)	missense	possibly damaging	0.87
R5300:Tg	UTSW	15	66,550,704 (GRCm39)	missense	probably damaging	1.00
R5334:Tg	UTSW	15	66,549,904 (GRCm39)	missense	probably damaging	1.00
R5339:Tg	UTSW	15	66,549,942 (GRCm39)	missense	probably damaging	1.00
R5402:Tg	UTSW	15	66,611,017 (GRCm39)	missense	probably damaging	0.98
R5441:Tg	UTSW	15	66,568,369 (GRCm39)	missense	possibly damaging	0.47
R5509:Tg	UTSW	15	66,699,142 (GRCm39)	missense	probably benign	0.45
R5580:Tg	UTSW	15	66,557,149 (GRCm39)	missense	possibly damaging	0.66
R5582:Tg	UTSW	15	66,565,284 (GRCm39)	missense	probably damaging	1.00
R5624:Tg	UTSW	15	66,709,906 (GRCm39)	missense	probably benign	0.11
R5686:Tg	UTSW	15	66,560,738 (GRCm39)	missense	probably benign	0.28
R6042:Tg	UTSW	15	66,555,842 (GRCm39)	missense	probably benign	0.01
R6122:Tg	UTSW	15	66,700,306 (GRCm39)	missense	probably damaging	1.00
R6146:Tg	UTSW	15	66,545,216 (GRCm39)	splice site	probably null
R6159:Tg	UTSW	15	66,607,096 (GRCm39)	missense	possibly damaging	0.71
R6223:Tg	UTSW	15	66,579,771 (GRCm39)	missense	probably benign	0.15
R6480:Tg	UTSW	15	66,543,160 (GRCm39)	missense	probably damaging	1.00
R6505:Tg	UTSW	15	66,631,407 (GRCm39)	missense	probably damaging	0.99
R6531:Tg	UTSW	15	66,711,211 (GRCm39)	missense	probably damaging	0.99
R6614:Tg	UTSW	15	66,607,108 (GRCm39)	missense	probably damaging	0.99
R6698:Tg	UTSW	15	66,711,211 (GRCm39)	missense	probably damaging	1.00
R6798:Tg	UTSW	15	66,550,688 (GRCm39)	missense	probably damaging	1.00
R6837:Tg	UTSW	15	66,567,984 (GRCm39)	missense	probably damaging	1.00
R6861:Tg	UTSW	15	66,560,740 (GRCm39)	missense	probably benign	0.00
R6888:Tg	UTSW	15	66,568,095 (GRCm39)	missense	probably damaging	0.99
R6933:Tg	UTSW	15	66,636,158 (GRCm39)	missense	possibly damaging	0.73
R6983:Tg	UTSW	15	66,565,207 (GRCm39)	missense	probably benign	0.01
R7078:Tg	UTSW	15	66,545,392 (GRCm39)	missense	probably damaging	1.00
R7244:Tg	UTSW	15	66,612,563 (GRCm39)	missense	probably damaging	1.00
R7320:Tg	UTSW	15	66,566,633 (GRCm39)	missense	possibly damaging	0.71
R7334:Tg	UTSW	15	66,597,121 (GRCm39)	missense	probably benign	0.01
R7418:Tg	UTSW	15	66,568,432 (GRCm39)	missense	probably damaging	0.99
R7485:Tg	UTSW	15	66,568,437 (GRCm39)	missense	probably benign	0.04
R7524:Tg	UTSW	15	66,568,010 (GRCm39)	missense	probably benign	0.01
R7529:Tg	UTSW	15	66,566,617 (GRCm39)	missense	probably damaging	0.99
R7540:Tg	UTSW	15	66,561,776 (GRCm39)	missense	probably benign	0.16
R7583:Tg	UTSW	15	66,636,267 (GRCm39)	missense	probably damaging	1.00
R7594:Tg	UTSW	15	66,601,432 (GRCm39)	missense	probably benign	0.20
R7667:Tg	UTSW	15	66,587,012 (GRCm39)	missense	probably damaging	0.98
R7722:Tg	UTSW	15	66,636,158 (GRCm39)	missense	possibly damaging	0.73
R7790:Tg	UTSW	15	66,721,453 (GRCm39)	missense	probably damaging	0.99
R7838:Tg	UTSW	15	66,565,112 (GRCm39)	missense	probably benign	0.00
R7890:Tg	UTSW	15	66,555,663 (GRCm39)	missense	probably damaging	1.00
R7904:Tg	UTSW	15	66,577,128 (GRCm39)	missense	probably benign	0.08
R7919:Tg	UTSW	15	66,555,923 (GRCm39)	missense	possibly damaging	0.73
R7921:Tg	UTSW	15	66,555,642 (GRCm39)	missense	probably benign	0.08
R8037:Tg	UTSW	15	66,560,724 (GRCm39)	missense	probably benign	0.00
R8038:Tg	UTSW	15	66,560,724 (GRCm39)	missense	probably benign	0.00
R8214:Tg	UTSW	15	66,645,247 (GRCm39)	missense	probably damaging	1.00
R8304:Tg	UTSW	15	66,565,109 (GRCm39)	nonsense	probably null
R8688:Tg	UTSW	15	66,566,802 (GRCm39)	critical splice donor site	probably benign
R8709:Tg	UTSW	15	66,553,786 (GRCm39)	missense	probably benign	0.08
R8714:Tg	UTSW	15	66,555,891 (GRCm39)	missense	probably damaging	0.97
R8901:Tg	UTSW	15	66,557,184 (GRCm39)	missense	probably damaging	1.00
R8917:Tg	UTSW	15	66,645,332 (GRCm39)	critical splice donor site	probably null
R9023:Tg	UTSW	15	66,555,522 (GRCm39)	missense	probably damaging	1.00
R9232:Tg	UTSW	15	66,570,310 (GRCm39)	missense	probably benign	0.01
R9310:Tg	UTSW	15	66,699,118 (GRCm39)	missense	possibly damaging	0.69
R9361:Tg	UTSW	15	66,557,246 (GRCm39)	missense	possibly damaging	0.50
R9389:Tg	UTSW	15	66,561,173 (GRCm39)	missense	probably benign	0.04
R9501:Tg	UTSW	15	66,718,923 (GRCm39)	missense	possibly damaging	0.52
R9510:Tg	UTSW	15	66,545,913 (GRCm39)	missense	probably damaging	1.00
R9594:Tg	UTSW	15	66,607,109 (GRCm39)	nonsense	probably null
R9629:Tg	UTSW	15	66,555,587 (GRCm39)	missense	possibly damaging	0.95
R9701:Tg	UTSW	15	66,637,991 (GRCm39)	missense	probably benign	0.03
R9743:Tg	UTSW	15	66,561,839 (GRCm39)	missense	probably benign	0.18
R9748:Tg	UTSW	15	66,719,008 (GRCm39)	missense	possibly damaging	0.91
T0975:Tg	UTSW	15	66,560,712 (GRCm39)	missense	probably benign	0.01
X0005:Tg	UTSW	15	66,560,712 (GRCm39)	missense	probably benign	0.01
X0065:Tg	UTSW	15	66,554,303 (GRCm39)	missense	probably damaging	1.00
X0067:Tg	UTSW	15	66,620,592 (GRCm39)	missense	probably benign	0.10
Z1177:Tg	UTSW	15	66,721,396 (GRCm39)	missense	probably benign	0.02
Z1177:Tg	UTSW	15	66,557,159 (GRCm39)	missense	possibly damaging	0.49

Posted On

2012-10-29