Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Thada'

207375

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

039858-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84497504-84773633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84538542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1489 (S1489A)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

probably damaging
Transcript: ENSMUST00000047524
AA Change: S1489A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: S1489A

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Ccdc42	T	A	11: 68,481,805 (GRCm39)	M133K	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,232,453 (GRCm39)	P587S	probably benign	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Cyp26a1	A	T	19: 37,689,071 (GRCm39)	L335F	probably damaging	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Frem1	A	G	4: 82,939,074 (GRCm39)	S3P	possibly damaging	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,325,713 (GRCm39)	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,059,484 (GRCm39)	V377E	probably damaging	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Tsr1	T	C	11: 74,791,182 (GRCm39)	F254L	probably benign	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably 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
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
R9631:Thada	UTSW	17	84,538,584 (GRCm39)	missense	probably benign	0.17
Z1176:Thada	UTSW	17	84,751,858 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCACTTCAGGAAAGGAAGACTTC -3'
(R):5'- TGGACATTTACCCTGGGCAC -3'

Sequencing Primer
(F):5'- CTTCAGGAAAGGAAGACTTCAGAAGC -3'
(R):5'- TTTACTTCTAGCTCTGGAGA -3'

Posted On

2014-06-23