Mutagenetix > Incidental Mutation

Incidental Mutation 'R7167:Thada'

558022

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

045228-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84497504-84773633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84538391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1539 (R1539Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

probably benign
Transcript: ENSMUST00000047524
AA Change: R1539Q

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

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: R1539Q

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

94% (65/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,624,930 (GRCm39)	V436A	probably benign	Het
Abcc5	T	C	16: 20,224,251 (GRCm39)	T111A	possibly damaging	Het
Acsbg2	T	A	17: 57,164,000 (GRCm39)	D203V	probably benign	Het
Alpk2	G	T	18: 65,440,049 (GRCm39)	T448K	probably benign	Het
Arhgef2	A	G	3: 88,551,179 (GRCm39)	N780S	possibly damaging	Het
Atxn2l	T	C	7: 126,098,394 (GRCm39)	N252S	possibly damaging	Het
Bmpr1b	A	T	3: 141,568,841 (GRCm39)	L163Q	probably benign	Het
Clca3a2	T	C	3: 144,803,545 (GRCm39)	R100G	probably benign	Het
Col2a1	A	G	15: 97,898,337 (GRCm39)	I79T	unknown	Het
Csmd1	A	G	8: 15,976,524 (GRCm39)	V2898A	probably benign	Het
Cux1	G	A	5: 136,338,895 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,773 (GRCm39)	S2P	probably benign	Het
Daam1	C	A	12: 72,035,678 (GRCm39)	H958N	probably damaging	Het
Dnah7a	C	T	1: 53,542,935 (GRCm39)	V2412I	probably benign	Het
Ergic2	T	C	6: 148,108,133 (GRCm39)	R2G	probably damaging	Het
Fat2	T	C	11: 55,175,827 (GRCm39)	T1629A	possibly damaging	Het
Ftl1	T	A	7: 45,109,202 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,495,406 (GRCm39)	V332A	possibly damaging	Het
Gm28363	T	C	1: 117,655,119 (GRCm39)	S113P	probably damaging	Het
Hfe	A	T	13: 23,892,052 (GRCm39)	V104E	probably damaging	Het
Ifih1	A	T	2: 62,429,240 (GRCm39)	N899K	probably benign	Het
Krt75	A	G	15: 101,476,750 (GRCm39)	S380P	possibly damaging	Het
Meiob	T	G	17: 25,055,419 (GRCm39)	F409V	probably damaging	Het
Mkrn2os	A	T	6: 115,562,474 (GRCm39)	I163N	probably damaging	Het
Nanos1	G	T	19: 60,745,046 (GRCm39)	G115W	probably damaging	Het
Naprt	C	T	15: 75,764,461 (GRCm39)	A276T	probably damaging	Het
Oas1e	G	T	5: 120,933,487 (GRCm39)	T26N	probably benign	Het
Oog2	T	G	4: 143,921,745 (GRCm39)	D218E	probably benign	Het
Optn	T	C	2: 5,047,294 (GRCm39)	N207S	probably benign	Het
Or13a20	T	A	7: 140,232,466 (GRCm39)	C191*	probably null	Het
Or1l8	T	C	2: 36,817,533 (GRCm39)	I198V	probably benign	Het
Or4g16	T	C	2: 111,136,793 (GRCm39)	M81T	probably benign	Het
Or4p18	A	G	2: 88,232,552 (GRCm39)	V242A	possibly damaging	Het
Or6c63-ps1	T	G	10: 128,899,141 (GRCm39)	Q245P	probably damaging	Het
Or6c66b	T	C	10: 129,376,607 (GRCm39)	L67P	possibly damaging	Het
Or8g4	T	C	9: 39,661,865 (GRCm39)	F61S	probably damaging	Het
Oxnad1	G	T	14: 31,822,976 (GRCm39)	E236*	probably null	Het
Pcdha3	G	A	18: 37,080,046 (GRCm39)	A263T	probably damaging	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Pip5k1b	T	A	19: 24,374,433 (GRCm39)	E49D	probably benign	Het
Plau	C	A	14: 20,889,518 (GRCm39)	F194L	possibly damaging	Het
Ppm1n	A	G	7: 19,013,666 (GRCm39)	L95S	probably damaging	Het
Pramel40	G	A	5: 94,464,984 (GRCm39)	A457T	possibly damaging	Het
Radil	G	T	5: 142,471,260 (GRCm39)		probably null	Het
Ralgapa2	C	T	2: 146,190,374 (GRCm39)	M1266I	probably benign	Het
Reln	A	T	5: 22,147,618 (GRCm39)	L2444Q	probably damaging	Het
Rims2	T	C	15: 39,300,473 (GRCm39)	V260A	probably benign	Het
Rnase2b	T	A	14: 51,400,222 (GRCm39)	V101E	probably damaging	Het
Rtp3	T	A	9: 110,815,772 (GRCm39)	T198S	probably benign	Het
Shisal2b	A	G	13: 105,000,166 (GRCm39)	V19A	probably damaging	Het
Smad3	T	A	9: 63,573,435 (GRCm39)	D201V	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spata7	T	G	12: 98,630,555 (GRCm39)	F371C	probably damaging	Het
Stag1	T	G	9: 100,827,942 (GRCm39)	N990K	probably benign	Het
Tbx18	C	T	9: 87,589,883 (GRCm39)	A352T	probably damaging	Het
Thrap3	A	C	4: 126,078,920 (GRCm39)		probably benign	Het
Tnks	G	A	8: 35,316,458 (GRCm39)	T887M	probably damaging	Het
Trap1	A	C	16: 3,870,792 (GRCm39)	V393G	probably damaging	Het
Trpm4	A	G	7: 44,977,143 (GRCm39)		probably null	Het
Trrap	G	T	5: 144,776,424 (GRCm39)	G3007C	probably benign	Het
U2surp	A	T	9: 95,363,726 (GRCm39)	N611K	probably damaging	Het
Usp12	A	G	5: 146,705,745 (GRCm39)		probably null	Het
Vmn1r200	A	G	13: 22,579,487 (GRCm39)	T97A	possibly damaging	Het
Vmn2r110	C	T	17: 20,794,441 (GRCm39)	V743I	probably benign	Het
Vps50	C	T	6: 3,600,256 (GRCm39)	T905M	probably damaging	Het
Wdr48	T	A	9: 119,736,855 (GRCm39)		probably null	Het
Zfp446	C	T	7: 12,712,049 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,181,015 (GRCm39)	S1012P	probably benign	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
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'- CTGGTGGTTTCCAAACTGTG -3'
(R):5'- TAGCTCTGGAGAGTCTTGGC -3'

Sequencing Primer
(F):5'- TGCCAGTGCAGCAGAGC -3'
(R):5'- CTGGGAAGATGTGAGAAGAATTATCC -3'

Posted On

2019-06-26