Mutagenetix > Incidental Mutation

Incidental Mutation 'R7809:Thada'

601045

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

045864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7809 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84497504-84773633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84759265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 198 (V198G)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047524
AA Change: V198G

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: V198G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot13	G	A	13: 25,004,779 (GRCm39)	T62I	probably damaging	Het
Adam33	C	G	2: 130,893,266 (GRCm39)	R779P	probably benign	Het
Adgrv1	G	A	13: 81,676,760 (GRCm39)	P2024S	possibly damaging	Het
Afm	A	G	5: 90,672,675 (GRCm39)	N170S	probably damaging	Het
Ambn	G	A	5: 88,615,683 (GRCm39)	V371I	probably benign	Het
Apbb1	G	A	7: 105,223,014 (GRCm39)	P199L	probably benign	Het
Axdnd1	A	T	1: 156,220,371 (GRCm39)	C118*	probably null	Het
Carf	G	T	1: 60,183,226 (GRCm39)	V443L	probably damaging	Het
Cfap251	A	G	5: 123,402,894 (GRCm39)	D459G	probably damaging	Het
Ckap5	G	A	2: 91,436,702 (GRCm39)	A1601T	probably benign	Het
Cnot1	A	T	8: 96,478,406 (GRCm39)	I973N	probably damaging	Het
Col11a1	A	G	3: 113,890,835 (GRCm39)	T391A	unknown	Het
Cracr2a	A	T	6: 127,626,925 (GRCm39)	M569L	probably benign	Het
Cspg4	T	C	9: 56,797,474 (GRCm39)	F1313L	probably damaging	Het
Cstdc2	A	G	2: 148,688,910 (GRCm39)	S110P	probably damaging	Het
Cttnbp2	C	A	6: 18,434,289 (GRCm39)	R523L	probably damaging	Het
Cxadr	T	C	16: 78,130,407 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,995,462 (GRCm39)	M962K	probably benign	Het
Dnm1	T	C	2: 32,243,091 (GRCm39)	K44R	probably damaging	Het
Fat3	T	C	9: 15,917,924 (GRCm39)	S1500G	probably damaging	Het
Gad1	T	C	2: 70,427,603 (GRCm39)	F503S	possibly damaging	Het
Garin3	A	G	11: 46,298,631 (GRCm39)	E645G		Het
Gm20730	T	C	6: 43,058,989 (GRCm39)	I15V	probably benign	Het
Gmppb	T	G	9: 107,928,654 (GRCm39)	*361G	probably null	Het
Inpp5f	T	C	7: 128,269,367 (GRCm39)	V239A	probably damaging	Het
Irf4	A	T	13: 30,941,415 (GRCm39)	Y257F	probably benign	Het
Kcnma1	T	C	14: 23,423,324 (GRCm39)	D793G	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Lrriq1	T	C	10: 103,051,678 (GRCm39)	K358R	probably damaging	Het
Mcpt4	T	A	14: 56,298,141 (GRCm39)	I137F	possibly damaging	Het
Muc6	T	A	7: 141,226,638 (GRCm39)	H1358L	probably benign	Het
Mug1	A	T	6: 121,855,944 (GRCm39)	M979L	possibly damaging	Het
Mvb12a	C	A	8: 71,998,306 (GRCm39)	P175T	probably benign	Het
Myh13	A	G	11: 67,241,167 (GRCm39)	E848G	probably benign	Het
Or4c105	A	T	2: 88,647,902 (GRCm39)	H129L	probably damaging	Het
Oxnad1	T	C	14: 31,822,962 (GRCm39)	V231A	probably benign	Het
Pcdhac1	A	G	18: 37,224,009 (GRCm39)	N274S	possibly damaging	Het
Plxnc1	T	A	10: 94,630,302 (GRCm39)	K1532N	probably damaging	Het
Polr3e	A	G	7: 120,523,449 (GRCm39)	D14G	probably damaging	Het
Prex1	A	G	2: 166,415,164 (GRCm39)	F1432S	possibly damaging	Het
Prlhr	A	G	19: 60,456,293 (GRCm39)	L91P	probably damaging	Het
Prom1	C	T	5: 44,178,209 (GRCm39)	V508I	probably benign	Het
Rmnd1	T	C	10: 4,357,848 (GRCm39)	Y387C	probably damaging	Het
Sall3	T	A	18: 81,017,575 (GRCm39)	T118S	probably benign	Het
Sf3b1	A	T	1: 55,034,614 (GRCm39)	D1015E	possibly damaging	Het
Sfmbt2	A	G	2: 10,398,155 (GRCm39)	N12S	probably benign	Het
Sohlh1	A	C	2: 25,735,289 (GRCm39)	S198A	probably benign	Het
Sorbs2	T	C	8: 46,198,465 (GRCm39)	S38P	possibly damaging	Het
Spata21	G	A	4: 140,831,354 (GRCm39)	A434T	probably null	Het
Stard13	T	A	5: 151,113,489 (GRCm39)	Q24L	probably damaging	Het
Syne2	G	T	12: 76,014,230 (GRCm39)	M3140I	probably benign	Het
Tango6	T	C	8: 107,415,926 (GRCm39)		probably null	Het
Tdrd9	G	A	12: 111,999,155 (GRCm39)	G757R	probably damaging	Het
Tmf1	T	C	6: 97,138,420 (GRCm39)	N833D	probably damaging	Het
Trav7-3	T	C	14: 53,681,072 (GRCm39)	M38T	probably benign	Het
Ttc38	A	C	15: 85,722,939 (GRCm39)	Q129P	possibly damaging	Het
Uox	A	T	3: 146,333,613 (GRCm39)	K271*	probably null	Het
Urgcp	A	T	11: 5,673,133 (GRCm39)	D47E	probably benign	Het
Usp17lb	A	G	7: 104,490,420 (GRCm39)	I169T	probably damaging	Het
Wdr75	T	C	1: 45,862,596 (GRCm39)	I805T	probably benign	Het
Zfp131	A	G	13: 120,250,446 (GRCm39)	F59S	probably damaging	Het
Zfp383	G	A	7: 29,609,661 (GRCm39)	A21T	possibly damaging	Het
Zfp810	T	C	9: 22,190,278 (GRCm39)	Y210C	possibly damaging	Het
Zfp871	A	G	17: 32,993,826 (GRCm39)	C450R	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
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'- ATGTATGAGCAAACACTGACTGG -3'
(R):5'- CTGGAGTGCTTTTACAAATGGG -3'

Sequencing Primer
(F):5'- CACTGACTGGCATGCAGTTATAAGC -3'
(R):5'- TGCTTTTACAAATGGGAGATAGAGAC -3'

Posted On

2019-11-26