Mutagenetix > Incidental Mutation

Incidental Mutation 'R6156:Thada'

489624

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

044303-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84497504-84773633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84700795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1237 (V1237A)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

probably damaging
Transcript: ENSMUST00000047524
AA Change: V1237A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: V1237A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179017

Meta Mutation Damage Score

0.3627

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,689,488 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,886 (GRCm39)	D2579G	probably damaging	Het
Atp6v1b1	G	C	6: 83,735,115 (GRCm39)	G423R	probably damaging	Het
B4galnt3	T	C	6: 120,191,801 (GRCm39)	N644S	probably benign	Het
Bhmt1b	C	A	18: 87,775,231 (GRCm39)	Y251*	probably null	Het
Capsl	T	G	15: 9,465,920 (GRCm39)	M132R	probably damaging	Het
Cep120	A	G	18: 53,836,295 (GRCm39)	Y797H	probably benign	Het
Cimip4	T	C	15: 78,263,013 (GRCm39)	T214A	probably damaging	Het
Clec2e	T	A	6: 129,072,061 (GRCm39)	D106V	possibly damaging	Het
Col6a2	C	T	10: 76,440,004 (GRCm39)	V634I	possibly damaging	Het
Dis3	T	C	14: 99,336,215 (GRCm39)	E97G	probably benign	Het
Dlec1	T	C	9: 118,939,281 (GRCm39)		probably null	Het
Dock2	C	A	11: 34,197,789 (GRCm39)	V1484F	possibly damaging	Het
Ephb2	T	A	4: 136,388,816 (GRCm39)	M593L	probably benign	Het
Fcgrt	T	C	7: 44,751,484 (GRCm39)	T125A	probably benign	Het
Gabbr1	T	C	17: 37,359,319 (GRCm39)	I98T	probably benign	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gfod1	T	C	13: 43,354,514 (GRCm39)	S154G	possibly damaging	Het
Ggt5	C	T	10: 75,445,160 (GRCm39)	T389I	probably damaging	Het
Got2	A	G	8: 96,598,896 (GRCm39)	F169L	probably benign	Het
Gse1	A	G	8: 121,215,866 (GRCm39)	K5E	possibly damaging	Het
Hyal5	T	C	6: 24,891,437 (GRCm39)	I417T	possibly damaging	Het
Igkv4-91	G	T	6: 68,745,607 (GRCm39)	T97K	probably damaging	Het
Il4i1	T	C	7: 44,489,608 (GRCm39)	Y458H	possibly damaging	Het
Impg1	A	T	9: 80,230,106 (GRCm39)	C740S	probably damaging	Het
Itgb1	C	G	8: 129,458,535 (GRCm39)	T788R	possibly damaging	Het
Lman2l	A	G	1: 36,477,907 (GRCm39)	V143A	probably damaging	Het
Ltbp4	G	T	7: 27,029,587 (GRCm39)	T136K	unknown	Het
Macf1	A	G	4: 123,366,073 (GRCm39)	I1331T	probably benign	Het
Mmp11	G	A	10: 75,762,325 (GRCm39)	A336V	probably damaging	Het
Myh2	A	T	11: 67,071,879 (GRCm39)	I536F	probably damaging	Het
Myh4	A	G	11: 67,141,618 (GRCm39)	M826V	probably benign	Het
Naca	T	C	10: 127,875,160 (GRCm39)		probably benign	Het
Nr4a2	A	G	2: 57,002,364 (GRCm39)	Y30H	probably damaging	Het
Or12j4	A	G	7: 140,046,758 (GRCm39)	T215A	probably benign	Het
Or1e35	A	T	11: 73,797,447 (GRCm39)	Y290*	probably null	Het
Or2n1d	T	A	17: 38,646,064 (GRCm39)	N5K	probably damaging	Het
Or4a67	T	A	2: 88,597,934 (GRCm39)	I242L	probably benign	Het
Or4f14d	A	T	2: 111,960,445 (GRCm39)	L237Q	probably damaging	Het
Or4k42	A	T	2: 111,320,095 (GRCm39)	M136K	probably damaging	Het
Or4z4	A	G	19: 12,076,484 (GRCm39)	V173A	possibly damaging	Het
Or8g22	T	A	9: 38,958,671 (GRCm39)	M15L	possibly damaging	Het
Paqr3	A	C	5: 97,256,128 (GRCm39)	L82R	probably damaging	Het
Pex6	C	T	17: 47,031,567 (GRCm39)	P456S	probably benign	Het
Pih1d2	A	T	9: 50,532,452 (GRCm39)	K186I	possibly damaging	Het
Plekhh3	A	G	11: 101,061,013 (GRCm39)		probably benign	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,812,142 (GRCm39)		probably benign	Het
Rgs11	T	A	17: 26,429,439 (GRCm39)	Y403*	probably null	Het
Scn10a	T	C	9: 119,464,649 (GRCm39)	N984D	probably benign	Het
Snx14	C	T	9: 88,289,392 (GRCm39)	A287T	possibly damaging	Het
Stx3	T	C	19: 11,780,874 (GRCm39)	D33G	probably damaging	Het
Tacc2	A	G	7: 130,227,494 (GRCm39)	K1393R	probably damaging	Het
Tas2r129	T	C	6: 132,928,455 (GRCm39)	S131P	probably benign	Het
Tbx15	G	T	3: 99,220,431 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,888,589 (GRCm39)	Y1735H	probably damaging	Het
Ttc22	A	G	4: 106,495,780 (GRCm39)	K378R	probably benign	Het
Tubg2	A	G	11: 101,051,635 (GRCm39)	K287E	possibly damaging	Het
Ugt3a1	T	C	15: 9,310,762 (GRCm39)	I348T	possibly damaging	Het
Unc79	A	G	12: 103,027,717 (GRCm39)	N436S	probably damaging	Het
Unc80	A	T	1: 66,651,409 (GRCm39)	I1585F	probably benign	Het
Vmn2r104	T	C	17: 20,261,909 (GRCm39)	Y407C	probably damaging	Het
Vmn2r108	T	A	17: 20,692,447 (GRCm39)	L136F	probably benign	Het
Vmn2r38	A	G	7: 9,097,611 (GRCm39)	S161P	probably damaging	Het
Vmn2r90	T	C	17: 17,953,606 (GRCm39)	I590T	probably benign	Het
Washc5	T	C	15: 59,217,248 (GRCm39)	E323G	probably damaging	Het
Wdhd1	C	T	14: 47,505,653 (GRCm39)	G273D	probably damaging	Het
Xpo6	G	T	7: 125,708,016 (GRCm39)	Q851K	probably damaging	Het
Zfp386	T	C	12: 116,023,526 (GRCm39)	S380P	probably damaging	Het
Zfp536	A	G	7: 37,173,281 (GRCm39)	C274R	unknown	Het
Zfp64	A	G	2: 168,768,088 (GRCm39)	I508T	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
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'- GGTACGTTAAAGACACAAATGCC -3'
(R):5'- CTTAGGTGTATTCTCCTAAATGTACAC -3'

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

Posted On

2017-10-10