Mutagenetix > Incidental Mutation

Incidental Mutation 'R9631:Thada'

725535

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9631 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84497504-84773633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84538584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1475 (S1475G)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047524]

AlphaFold

A8C756

Predicted Effect

probably benign
Transcript: ENSMUST00000047524
AA Change: S1475G

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: S1475G

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	457	926	3e-6	SMART
Pfam:DUF2428	938	1239	1.6e-93	PFAM
SCOP:d1gw5a_	1343	1802	7e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl3	A	G	19: 7,509,553 (GRCm39)	N427S	probably benign	Het
Bcar3	T	A	3: 122,301,801 (GRCm39)	D165E	possibly damaging	Het
Brap	T	C	5: 121,822,435 (GRCm39)	I437T	probably benign	Het
Bspry	T	C	4: 62,400,955 (GRCm39)		probably null	Het
Camkv	G	T	9: 107,822,990 (GRCm39)	V77L	probably benign	Het
Capn15	A	T	17: 26,182,409 (GRCm39)	D566E	probably damaging	Het
Ccar2	A	G	14: 70,389,344 (GRCm39)	V76A	probably damaging	Het
Ccdc142	T	C	6: 83,084,142 (GRCm39)	C516R	probably benign	Het
Ccdc92b	T	A	11: 74,520,845 (GRCm39)	V49E		Het
Ccr7	A	G	11: 99,036,616 (GRCm39)	V102A	probably benign	Het
Cdh23	A	T	10: 60,243,168 (GRCm39)	V1069E	possibly damaging	Het
Cimip2c	A	G	5: 30,639,529 (GRCm39)	D152G		Het
Clpb	T	G	7: 101,434,605 (GRCm39)	V467G	possibly damaging	Het
Crebzf	T	A	7: 90,093,013 (GRCm39)	L264Q	probably damaging	Het
Ctif	A	G	18: 75,605,025 (GRCm39)	F505L	probably benign	Het
Cyp2j5	A	G	4: 96,529,522 (GRCm39)	I283T	probably benign	Het
Ddx39a	C	A	8: 84,447,729 (GRCm39)	H191Q	possibly damaging	Het
Dnajc9	A	T	14: 20,438,670 (GRCm39)		probably null	Het
Dock7	A	G	4: 98,854,560 (GRCm39)	L1568P	unknown	Het
Dpp10	T	C	1: 123,269,432 (GRCm39)	Y659C	probably damaging	Het
Eef1akmt3	A	G	10: 126,877,161 (GRCm39)	F35L	probably benign	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
F5	T	A	1: 164,014,423 (GRCm39)	C565S	probably damaging	Het
Fam170b	T	C	14: 32,557,641 (GRCm39)	S159P	probably damaging	Het
Fitm2	A	G	2: 163,311,757 (GRCm39)	I152T	probably damaging	Het
Fn1	T	C	1: 71,625,387 (GRCm39)	D2473G	probably benign	Het
Fzd2	C	A	11: 102,496,916 (GRCm39)	D453E	probably benign	Het
Grm5	T	C	7: 87,624,560 (GRCm39)	Y376H	probably damaging	Het
H2-Q6	T	A	17: 35,644,292 (GRCm39)	H91Q	probably benign	Het
Hspa4	A	T	11: 53,160,582 (GRCm39)	V498E	possibly damaging	Het
Igsf10	A	T	3: 59,237,904 (GRCm39)	L759H	probably damaging	Het
Jph1	T	C	1: 17,161,607 (GRCm39)	T352A	probably damaging	Het
Kit	C	T	5: 75,767,689 (GRCm39)	T24M	possibly damaging	Het
Krtap28-13	T	G	1: 83,038,897 (GRCm39)	C61G	unknown	Het
Lgr5	T	A	10: 115,302,513 (GRCm39)	I293F	probably damaging	Het
Lyzl4	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	9: 121,413,055 (GRCm39)		probably null	Het
Mccc1	C	A	3: 36,014,185 (GRCm39)	E711*	probably null	Het
Mroh2b	C	T	15: 4,946,556 (GRCm39)	T452I	probably damaging	Het
Ms4a10	G	A	19: 10,944,451 (GRCm39)	T111I	probably damaging	Het
Myh11	A	T	16: 14,025,441 (GRCm39)	V1443E		Het
Oc90	A	G	15: 65,769,629 (GRCm39)	L76P	probably damaging	Het
Or10d3	G	A	9: 39,461,508 (GRCm39)	R220*	probably null	Het
Or4c118	T	C	2: 88,975,522 (GRCm39)		probably benign	Het
Or4f57	A	G	2: 111,791,377 (GRCm39)	F14L	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,607 (GRCm39)	I290N	probably damaging	Het
Or5b97	A	G	19: 12,878,502 (GRCm39)	V214A	possibly damaging	Het
Or8b57	A	G	9: 40,004,223 (GRCm39)	V13A	probably damaging	Het
Or8c10	G	A	9: 38,279,714 (GRCm39)	V281M	possibly damaging	Het
Or8g52	A	T	9: 39,631,161 (GRCm39)	T213S	possibly damaging	Het
Pgr	C	A	9: 8,900,847 (GRCm39)	Q127K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rfc1	C	T	5: 65,429,851 (GRCm39)	V852M	probably damaging	Het
Rin2	T	A	2: 145,718,437 (GRCm39)	L639H	probably damaging	Het
Rpap2	T	A	5: 107,768,292 (GRCm39)	W377R	probably damaging	Het
Senp7	T	C	16: 55,975,631 (GRCm39)	S446P	probably benign	Het
Sipa1l1	A	G	12: 82,387,776 (GRCm39)	M1V	probably null	Het
Slc25a36	A	C	9: 96,982,153 (GRCm39)	S61A	probably benign	Het
Sptbn2	C	T	19: 4,788,218 (GRCm39)	R1066W	probably damaging	Het
Tgm6	A	G	2: 129,977,810 (GRCm39)	S50G	probably benign	Het
Tln1	G	A	4: 43,545,694 (GRCm39)	A928V	probably damaging	Het
Trip11	G	A	12: 101,859,807 (GRCm39)	L357F	probably benign	Het
Ttc3	G	T	16: 94,171,581 (GRCm39)		probably benign	Het
Ttc38	T	C	15: 85,728,659 (GRCm39)	S204P	possibly damaging	Het
Vmn1r237	A	T	17: 21,534,660 (GRCm39)	I128F	probably benign	Het
Vmn2r50	A	T	7: 9,786,990 (GRCm39)	L39*	probably null	Het
Vps4b	A	G	1: 106,707,835 (GRCm39)	V216A	possibly damaging	Het
Zfp217	T	C	2: 169,956,790 (GRCm39)	N736S	possibly damaging	Het
Zfp985	A	G	4: 147,665,742 (GRCm39)	E25G	probably damaging	Het
Zfr	C	T	15: 12,154,628 (GRCm39)	R604*	probably null	Het
Zscan18	A	G	7: 12,505,657 (GRCm39)	S577P	possibly damaging	Het

Other mutations in Thada

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Thada	APN	17	84,751,646 (GRCm39)	missense	probably benign	0.01
IGL00902:Thada	APN	17	84,755,404 (GRCm39)	missense	probably damaging	1.00
IGL01634:Thada	APN	17	84,700,786 (GRCm39)	critical splice donor site	probably null
IGL01689:Thada	APN	17	84,754,116 (GRCm39)	missense	possibly damaging	0.80
IGL01693:Thada	APN	17	84,754,072 (GRCm39)	missense	probably benign
IGL01937:Thada	APN	17	84,530,194 (GRCm39)	missense	probably benign	0.00
IGL01945:Thada	APN	17	84,530,194 (GRCm39)	missense	probably benign	0.00
IGL02231:Thada	APN	17	84,736,125 (GRCm39)	missense	probably damaging	1.00
IGL02951:Thada	APN	17	84,751,456 (GRCm39)	missense	probably benign	0.16
IGL03167:Thada	APN	17	84,766,277 (GRCm39)	missense	probably damaging	0.97
IGL03279:Thada	APN	17	84,742,988 (GRCm39)	missense	probably benign	0.01
IGL03347:Thada	APN	17	84,705,633 (GRCm39)	missense	probably damaging	1.00
H8562:Thada	UTSW	17	84,753,972 (GRCm39)	missense	probably damaging	1.00
IGL03098:Thada	UTSW	17	84,641,569 (GRCm39)	missense	possibly damaging	0.93
R0006:Thada	UTSW	17	84,533,468 (GRCm39)	missense	probably benign	0.00
R0052:Thada	UTSW	17	84,762,586 (GRCm39)	missense	probably damaging	0.99
R0052:Thada	UTSW	17	84,762,586 (GRCm39)	missense	probably damaging	0.99
R0357:Thada	UTSW	17	84,538,364 (GRCm39)	missense	probably damaging	1.00
R0388:Thada	UTSW	17	84,538,524 (GRCm39)	missense	probably benign	0.00
R0543:Thada	UTSW	17	84,730,591 (GRCm39)	missense	probably damaging	1.00
R0606:Thada	UTSW	17	84,723,731 (GRCm39)	missense	possibly damaging	0.90
R0630:Thada	UTSW	17	84,536,603 (GRCm39)	missense	probably damaging	1.00
R0664:Thada	UTSW	17	84,644,257 (GRCm39)	missense	probably damaging	1.00
R0855:Thada	UTSW	17	84,744,083 (GRCm39)	missense	probably damaging	1.00
R0972:Thada	UTSW	17	84,736,490 (GRCm39)	splice site	probably benign
R1297:Thada	UTSW	17	84,559,863 (GRCm39)	splice site	probably benign
R1465:Thada	UTSW	17	84,744,104 (GRCm39)	missense	possibly damaging	0.92
R1465:Thada	UTSW	17	84,744,104 (GRCm39)	missense	possibly damaging	0.92
R1490:Thada	UTSW	17	84,754,029 (GRCm39)	missense	possibly damaging	0.68
R1789:Thada	UTSW	17	84,755,462 (GRCm39)	missense	probably damaging	1.00
R1789:Thada	UTSW	17	84,755,461 (GRCm39)	missense	probably damaging	1.00
R1802:Thada	UTSW	17	84,771,835 (GRCm39)	missense	probably benign	0.34
R1831:Thada	UTSW	17	84,538,542 (GRCm39)	missense	probably damaging	0.97
R1834:Thada	UTSW	17	84,533,432 (GRCm39)	missense	possibly damaging	0.53
R1881:Thada	UTSW	17	84,744,130 (GRCm39)	missense	probably benign	0.19
R1925:Thada	UTSW	17	84,751,927 (GRCm39)	missense	probably benign	0.05
R1969:Thada	UTSW	17	84,617,470 (GRCm39)	missense	probably damaging	1.00
R1970:Thada	UTSW	17	84,617,470 (GRCm39)	missense	probably damaging	1.00
R1971:Thada	UTSW	17	84,617,470 (GRCm39)	missense	probably damaging	1.00
R2149:Thada	UTSW	17	84,749,192 (GRCm39)	missense	probably damaging	1.00
R2191:Thada	UTSW	17	84,753,949 (GRCm39)	missense	probably benign	0.00
R2571:Thada	UTSW	17	84,762,068 (GRCm39)	missense	probably damaging	0.99
R3405:Thada	UTSW	17	84,538,213 (GRCm39)	splice site	probably benign
R3406:Thada	UTSW	17	84,538,213 (GRCm39)	splice site	probably benign
R3916:Thada	UTSW	17	84,749,210 (GRCm39)	missense	possibly damaging	0.92
R4044:Thada	UTSW	17	84,749,135 (GRCm39)	missense	probably benign	0.41
R4461:Thada	UTSW	17	84,733,665 (GRCm39)	missense	probably damaging	1.00
R4662:Thada	UTSW	17	84,743,078 (GRCm39)	missense	probably damaging	1.00
R4696:Thada	UTSW	17	84,733,614 (GRCm39)	missense	possibly damaging	0.83
R4786:Thada	UTSW	17	84,766,283 (GRCm39)	missense	possibly damaging	0.66
R4803:Thada	UTSW	17	84,580,245 (GRCm39)	missense	probably damaging	0.96
R4835:Thada	UTSW	17	84,748,532 (GRCm39)	splice site	probably null
R4872:Thada	UTSW	17	84,754,027 (GRCm39)	missense	probably damaging	1.00
R4898:Thada	UTSW	17	84,755,470 (GRCm39)	splice site	probably null
R4903:Thada	UTSW	17	84,559,828 (GRCm39)	missense	possibly damaging	0.67
R4929:Thada	UTSW	17	84,751,654 (GRCm39)	missense	probably benign	0.01
R4959:Thada	UTSW	17	84,751,611 (GRCm39)	missense	probably damaging	1.00
R5071:Thada	UTSW	17	84,693,960 (GRCm39)	missense	probably damaging	1.00
R5092:Thada	UTSW	17	84,751,896 (GRCm39)	missense	probably damaging	0.97
R5398:Thada	UTSW	17	84,733,614 (GRCm39)	missense	probably benign	0.03
R5480:Thada	UTSW	17	84,739,682 (GRCm39)	missense	probably benign	0.00
R5552:Thada	UTSW	17	84,736,558 (GRCm39)	missense	probably benign	0.03
R5575:Thada	UTSW	17	84,723,827 (GRCm39)	splice site	probably null
R5623:Thada	UTSW	17	84,499,411 (GRCm39)	missense	probably benign	0.00
R5688:Thada	UTSW	17	84,759,155 (GRCm39)	missense	probably benign	0.00
R5704:Thada	UTSW	17	84,538,329 (GRCm39)	missense	probably benign	0.01
R6008:Thada	UTSW	17	84,744,062 (GRCm39)	missense	probably damaging	1.00
R6013:Thada	UTSW	17	84,580,228 (GRCm39)	missense	probably benign	0.00
R6072:Thada	UTSW	17	84,499,434 (GRCm39)	missense	possibly damaging	0.93
R6156:Thada	UTSW	17	84,700,795 (GRCm39)	missense	probably damaging	0.98
R6243:Thada	UTSW	17	84,744,030 (GRCm39)	missense	probably benign	0.01
R6449:Thada	UTSW	17	84,736,601 (GRCm39)	missense	probably benign
R6453:Thada	UTSW	17	84,723,751 (GRCm39)	missense	probably damaging	1.00
R6474:Thada	UTSW	17	84,751,339 (GRCm39)	missense	possibly damaging	0.83
R6732:Thada	UTSW	17	84,761,842 (GRCm39)	splice site	probably null
R6907:Thada	UTSW	17	84,700,897 (GRCm39)	missense	probably damaging	1.00
R7117:Thada	UTSW	17	84,538,214 (GRCm39)	splice site	probably null
R7167:Thada	UTSW	17	84,538,391 (GRCm39)	missense	probably benign
R7221:Thada	UTSW	17	84,771,794 (GRCm39)	missense	possibly damaging	0.46
R7470:Thada	UTSW	17	84,533,469 (GRCm39)	missense	probably benign
R7753:Thada	UTSW	17	84,559,818 (GRCm39)	missense	probably damaging	1.00
R7809:Thada	UTSW	17	84,759,265 (GRCm39)	missense	possibly damaging	0.80
R7882:Thada	UTSW	17	84,736,624 (GRCm39)	missense	possibly damaging	0.85
R7971:Thada	UTSW	17	84,580,197 (GRCm39)	missense	possibly damaging	0.93
R8004:Thada	UTSW	17	84,499,633 (GRCm39)	missense	probably benign
R8153:Thada	UTSW	17	84,700,855 (GRCm39)	missense	possibly damaging	0.90
R8254:Thada	UTSW	17	84,533,468 (GRCm39)	missense	probably benign	0.00
R8426:Thada	UTSW	17	84,530,131 (GRCm39)	missense	probably benign	0.17
R8438:Thada	UTSW	17	84,743,057 (GRCm39)	missense	probably damaging	1.00
R8670:Thada	UTSW	17	84,739,774 (GRCm39)	missense	probably benign	0.16
R8679:Thada	UTSW	17	84,536,637 (GRCm39)	missense	probably benign	0.28
R8952:Thada	UTSW	17	84,736,524 (GRCm39)	missense	probably benign	0.01
R8983:Thada	UTSW	17	84,538,515 (GRCm39)	missense	probably benign	0.00
R9009:Thada	UTSW	17	84,759,203 (GRCm39)	missense	possibly damaging	0.54
R9050:Thada	UTSW	17	84,736,629 (GRCm39)	missense	probably damaging	0.99
R9091:Thada	UTSW	17	84,538,589 (GRCm39)	missense	probably damaging	0.96
R9225:Thada	UTSW	17	84,749,172 (GRCm39)	missense	possibly damaging	0.90
R9251:Thada	UTSW	17	84,538,564 (GRCm39)	missense	probably benign	0.00
R9270:Thada	UTSW	17	84,538,589 (GRCm39)	missense	probably damaging	0.96
R9299:Thada	UTSW	17	84,749,205 (GRCm39)	missense	probably benign	0.01
R9337:Thada	UTSW	17	84,749,205 (GRCm39)	missense	probably benign	0.01
R9360:Thada	UTSW	17	84,499,410 (GRCm39)	missense	probably benign
R9416:Thada	UTSW	17	84,766,292 (GRCm39)	nonsense	probably null
R9484:Thada	UTSW	17	84,736,619 (GRCm39)	missense	probably damaging	1.00
R9584:Thada	UTSW	17	84,733,605 (GRCm39)	missense	probably benign
Z1176:Thada	UTSW	17	84,751,858 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCAAGCGCACTTCAGGAAAG -3'
(R):5'- ATTTACCCTGGGCACTTCTGG -3'

Sequencing Primer
(F):5'- CGCACTTCAGGAAAGGAAGACTTC -3'
(R):5'- AGGAGCCCATTTTCTGAG -3'

Posted On

2022-09-12