Mutagenetix > Incidental Mutation

Incidental Mutation 'R6008:Thada'

479620

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

044185-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84497504-84773633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84744062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 749 (I749F)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

probably damaging
Transcript: ENSMUST00000047524
AA Change: I749F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: I749F

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

0.4120

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

98% (55/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,727,978 (GRCm39)	L1268P	possibly damaging	Het
Acot3	T	A	12: 84,103,860 (GRCm39)	V223E	probably damaging	Het
Afap1	T	G	5: 36,154,895 (GRCm39)	S680A	probably damaging	Het
Aox1	C	T	1: 58,116,672 (GRCm39)	A801V	probably damaging	Het
Atp8b1	G	T	18: 64,710,687 (GRCm39)	T155K	probably damaging	Het
Bard1	C	A	1: 71,069,909 (GRCm39)	V690F	possibly damaging	Het
Btnl9	C	A	11: 49,073,792 (GRCm39)		probably null	Het
C1rl	A	G	6: 124,470,147 (GRCm39)	N13S	probably benign	Het
Cad	C	A	5: 31,226,456 (GRCm39)	T1166K	probably damaging	Het
Ckap5	T	A	2: 91,393,334 (GRCm39)	M405K	probably damaging	Het
Csn1s1	T	C	5: 87,825,944 (GRCm39)		probably null	Het
Ctnna2	A	G	6: 76,892,811 (GRCm39)	L792P	probably damaging	Het
Dennd3	T	A	15: 73,438,929 (GRCm39)	V1099D	possibly damaging	Het
Dnai2	A	G	11: 114,643,816 (GRCm39)	N482S	probably benign	Het
Dock10	T	C	1: 80,583,890 (GRCm39)	T184A	probably damaging	Het
Ear2	T	A	14: 44,340,546 (GRCm39)	L68H	probably damaging	Het
Edn3	A	G	2: 174,621,525 (GRCm39)	T149A	probably benign	Het
Erf	C	T	7: 24,945,041 (GRCm39)	V131M	probably benign	Het
Esp34	A	G	17: 38,865,118 (GRCm39)		probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga1	A	G	2: 38,937,099 (GRCm39)	V161A	probably benign	Het
Gpr17	T	A	18: 32,080,530 (GRCm39)	T178S	probably benign	Het
Gsg1l2	T	A	11: 67,665,537 (GRCm39)	I35N	possibly damaging	Het
Hmgn3	T	A	9: 82,994,284 (GRCm39)	T46S	probably damaging	Het
Hydin	A	C	8: 111,325,717 (GRCm39)	I4709L	probably benign	Het
Ifna9	A	T	4: 88,510,600 (GRCm39)	L8Q	probably null	Het
Iftap	A	T	2: 101,413,898 (GRCm39)	M133K	possibly damaging	Het
Kpna4	T	C	3: 69,034,066 (GRCm39)	E125G	probably null	Het
Lrriq1	A	G	10: 103,006,325 (GRCm39)	S1267P	probably damaging	Het
Mab21l1	G	T	3: 55,690,518 (GRCm39)	C35F	possibly damaging	Het
Map3k2	A	G	18: 32,336,104 (GRCm39)	D97G	probably damaging	Het
Matcap2	G	A	9: 22,335,422 (GRCm39)	W13*	probably null	Het
Mdn1	T	A	4: 32,741,073 (GRCm39)	I3799N	probably damaging	Het
Mki67	G	A	7: 135,299,158 (GRCm39)	R1959C	probably damaging	Het
Mroh1	A	T	15: 76,335,557 (GRCm39)	H1400L	possibly damaging	Het
Mroh4	T	A	15: 74,497,321 (GRCm39)	K167*	probably null	Het
Mroh8	A	G	2: 157,094,984 (GRCm39)	I334T	probably benign	Het
Or51a25	T	A	7: 102,373,574 (GRCm39)	Y41F	probably damaging	Het
Phf11d	T	A	14: 59,602,898 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,182,097 (GRCm39)	T342I	possibly damaging	Het
Pira12	G	T	7: 3,897,599 (GRCm39)	H499N	probably damaging	Het
Plekhh3	T	C	11: 101,055,591 (GRCm39)	E483G	possibly damaging	Het
Ppp1r3b	G	A	8: 35,851,355 (GRCm39)	A65T	probably damaging	Het
Pramel30	C	T	4: 144,057,777 (GRCm39)	T128I	probably benign	Het
Prkcq	A	G	2: 11,261,097 (GRCm39)	H383R	probably damaging	Het
Pum1	T	C	4: 130,496,158 (GRCm39)	V961A	probably damaging	Het
Scgb2b27	T	C	7: 33,711,561 (GRCm39)	E96G	probably benign	Het
Sel1l2	T	A	2: 140,086,025 (GRCm39)	E522V	probably damaging	Het
Socs4	T	G	14: 47,527,618 (GRCm39)	C184W	probably damaging	Het
Spdye4c	A	T	2: 128,438,553 (GRCm39)	I304F	probably benign	Het
Sptbn2	A	G	19: 4,789,306 (GRCm39)	I1249V	possibly damaging	Het
Sys1	T	C	2: 164,306,507 (GRCm39)	S154P	probably benign	Het
Taf6l	T	C	19: 8,755,530 (GRCm39)	Q275R	possibly damaging	Het
Tas2r107	A	G	6: 131,636,875 (GRCm39)	V58A	possibly damaging	Het
Tubb1	T	A	2: 174,299,567 (GRCm39)	H416Q	probably benign	Het
Vmn2r109	G	A	17: 20,760,981 (GRCm39)	T792I	probably damaging	Het
Zfp988	A	G	4: 147,416,259 (GRCm39)	Q231R	probably benign	Het
Zmynd8	T	C	2: 165,684,707 (GRCm39)	I182V	possibly damaging	Het
Zzz3	T	C	3: 152,133,788 (GRCm39)	V282A	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
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'- TGCGCTTGGAAAGTGACAAAC -3'
(R):5'- AGCAGGCACATTTACTTCTGAAGG -3'

Sequencing Primer
(F):5'- AGGAGGAGACAGCTCTCTCTCTC -3'
(R):5'- TTTACTTCTGAAGGAACCCAGC -3'

Posted On

2017-06-26