Mutagenetix > Incidental Mutation

Incidental Mutation 'R8153:Thada'

633168

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

067579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8153 (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 84700855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1217 (N1217S)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047524
AA Change: N1217S

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: N1217S

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,157 (GRCm39)	S287T	probably benign	Het
Abca15	T	C	7: 119,999,812 (GRCm39)	S1429P	probably damaging	Het
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Cachd1	G	T	4: 100,845,835 (GRCm39)		probably null	Het
Cfap61	T	C	2: 146,042,704 (GRCm39)	I1159T	probably benign	Het
Csf1	T	A	3: 107,656,020 (GRCm39)	D337V	probably damaging	Het
Ddhd2	T	A	8: 26,240,816 (GRCm39)	T251S	probably benign	Het
Dnah5	A	G	15: 28,384,576 (GRCm39)	T3107A	probably damaging	Het
Dnph1	T	C	17: 46,809,965 (GRCm39)	V169A	probably benign	Het
Ebf2	T	C	14: 67,627,914 (GRCm39)	V303A	probably damaging	Het
Eif4a3l2	A	T	6: 116,528,968 (GRCm39)	I282F	probably damaging	Het
Enpp3	A	G	10: 24,685,777 (GRCm39)	F206S	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fpr-rs3	A	G	17: 20,844,685 (GRCm39)	L152P	probably damaging	Het
Gen1	C	A	12: 11,310,948 (GRCm39)	G95W	probably damaging	Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Gm4884	T	A	7: 40,692,582 (GRCm39)	C184S	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsx2	T	C	5: 75,237,716 (GRCm39)	S223P	probably damaging	Het
Hnf4g	C	T	3: 3,699,250 (GRCm39)		probably benign	Het
Iqub	A	C	6: 24,450,789 (GRCm39)	Y603*	probably null	Het
Klhl22	A	G	16: 17,610,414 (GRCm39)	N555S	probably damaging	Het
Lama5	T	C	2: 179,829,724 (GRCm39)	D1928G	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lamc2	CATCAGCTA	CA	1: 152,999,850 (GRCm39)		probably null	Het
Lgr4	T	A	2: 109,830,645 (GRCm39)	F255I	probably damaging	Het
Lnx2	T	C	5: 146,964,906 (GRCm39)	N439S	probably benign	Het
Lztr1	G	T	16: 17,336,439 (GRCm39)		probably null	Het
Mtcl3	G	T	10: 29,024,235 (GRCm39)	E384*	probably null	Het
Nfkb2	G	T	19: 46,296,455 (GRCm39)	R241L	probably damaging	Het
Nrcam	T	C	12: 44,631,755 (GRCm39)	F1103L	probably benign	Het
Or2g1	A	G	17: 38,106,367 (GRCm39)	I11V	probably benign	Het
Or5k17	A	G	16: 58,746,149 (GRCm39)	S262P	possibly damaging	Het
Or8d2	A	G	9: 38,759,631 (GRCm39)	I74V	possibly damaging	Het
Or8g52	A	G	9: 39,630,954 (GRCm39)	M144V	possibly damaging	Het
Otof	C	A	5: 30,546,079 (GRCm39)	A425S	probably damaging	Het
Parg	T	A	14: 31,984,777 (GRCm39)	L774H	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pcnx4	T	A	12: 72,603,017 (GRCm39)	F426L	probably benign	Het
Pde5a	T	G	3: 122,646,225 (GRCm39)	S805R	probably benign	Het
Pde5a	T	A	3: 122,646,227 (GRCm39)	M806K	probably damaging	Het
Plekhh1	T	C	12: 79,125,812 (GRCm39)	S1283P	probably benign	Het
Ppp1r12a	A	G	10: 107,998,303 (GRCm39)	K15E	probably damaging	Het
Prkdc	A	T	16: 15,482,108 (GRCm39)	M384L	probably damaging	Het
Ptchd4	A	G	17: 42,814,787 (GRCm39)	D896G	probably benign	Het
Rsf1	GGC	GGCTACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,254,488 (GRCm39)	S65G	probably benign	Het
Snta1	C	A	2: 154,222,722 (GRCm39)	L298F	probably damaging	Het
Sphkap	T	G	1: 83,255,730 (GRCm39)	N673T	possibly damaging	Het
St8sia5	T	G	18: 77,340,807 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,986,975 (GRCm39)	V481A	probably benign	Het
Tia1	C	G	6: 86,397,314 (GRCm39)	H107D	probably damaging	Het
Ttn	A	G	2: 76,746,956 (GRCm39)	Y4698H	probably benign	Het
Ube3c	T	C	5: 29,811,929 (GRCm39)	Y390H	possibly damaging	Het
Ubqln5	A	G	7: 103,778,011 (GRCm39)	I271T	possibly damaging	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Xkr9	A	G	1: 13,754,363 (GRCm39)	D119G	probably benign	Het
Zfp236	C	T	18: 82,648,152 (GRCm39)	C1003Y	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
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
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'- GGGTACGTTAAAGACACAAATGCC -3'
(R):5'- CAGTTCTTAGGTGTATTCTCCTAAATG -3'

Sequencing Primer
(F):5'- GTTAAAGACACAAATGCCATAGAAGC -3'
(R):5'- CGTAGTTTTAAATCCACCACT -3'

Posted On

2020-06-30