Mutagenetix > Incidental Mutations

Incidental Mutation 'R6474:Thada'

516749

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6474 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84190056-84466196 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84443911 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 546 (I546V)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047524
AA Change: I546V

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: I546V

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: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	A	8: 71,461,715	N90Y	probably damaging	Het
Alkal1	T	C	1: 6,389,446	V82A	probably damaging	Het
Ascc3	T	C	10: 50,748,836	S1607P	probably benign	Het
Ccny	A	T	18: 9,345,427	L149H	probably damaging	Het
Clptm1	T	C	7: 19,635,837	N383D	possibly damaging	Het
Clrn2	T	A	5: 45,463,732	M156K	probably benign	Het
Coro2b	T	A	9: 62,426,628	H328L	probably benign	Het
Echs1	A	T	7: 140,108,142	M250K	probably benign	Het
Ecsit	A	G	9: 22,074,685	V145A	possibly damaging	Het
Fas	G	A	19: 34,316,569	G108D	probably damaging	Het
Folh1	A	G	7: 86,775,756	W2R	probably damaging	Het
Gba	C	T	3: 89,204,081	P51L	probably benign	Het
Grik2	C	T	10: 49,132,680	M770I	probably benign	Het
Hcst	T	C	7: 30,417,825	N74S	probably damaging	Het
Hdac9	T	A	12: 34,431,991		probably null	Het
Hsfy2	T	A	1: 56,636,991	D129V	probably damaging	Het
Htt	T	C	5: 34,824,895	V941A	probably benign	Het
Naip5	A	G	13: 100,214,663	V1279A	possibly damaging	Het
Neb	T	A	2: 52,280,612	M1683L	probably benign	Het
Nudt21	C	T	8: 94,019,654	V139I	probably benign	Het
Olfr513	T	C	7: 108,755,029	Y58H	probably damaging	Het
Pex2	A	G	3: 5,561,131	F206S	probably damaging	Het
Plek2	C	A	12: 78,896,291	R77L	probably benign	Het
Ppfia1	A	T	7: 144,506,205	D623E	possibly damaging	Het
Ppm1l	T	A	3: 69,553,041	I317N	probably damaging	Het
Prkacb	T	A	3: 146,755,724	T36S	probably damaging	Het
Sphkap	T	A	1: 83,278,823	I115F	probably damaging	Het
Sprtn	G	T	8: 124,899,134	E95*	probably null	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tcap	C	A	11: 98,384,177	Q46K	probably benign	Het
Tubal3	T	A	13: 3,933,107	S296T	probably benign	Het
Ube3a	A	G	7: 59,287,024	N683D	probably damaging	Het
Vmn2r82	T	G	10: 79,379,037	L285V	possibly damaging	Het
Zfp871	T	C	17: 32,775,673	D157G	possibly damaging	Het

Other mutations in Thada

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Thada	APN	17	84444218	missense	probably benign	0.01
IGL00902:Thada	APN	17	84447976	missense	probably damaging	1.00
IGL01634:Thada	APN	17	84393358	critical splice donor site	probably null
IGL01689:Thada	APN	17	84446688	missense	possibly damaging	0.80
IGL01693:Thada	APN	17	84446644	missense	probably benign
IGL01937:Thada	APN	17	84222766	missense	probably benign	0.00
IGL01945:Thada	APN	17	84222766	missense	probably benign	0.00
IGL02231:Thada	APN	17	84428697	missense	probably damaging	1.00
IGL02951:Thada	APN	17	84444028	missense	probably benign	0.16
IGL03167:Thada	APN	17	84458849	missense	probably damaging	0.97
IGL03279:Thada	APN	17	84435560	missense	probably benign	0.01
IGL03347:Thada	APN	17	84398205	missense	probably damaging	1.00
H8562:Thada	UTSW	17	84446544	missense	probably damaging	1.00
IGL03098:Thada	UTSW	17	84334141	missense	possibly damaging	0.93
R0006:Thada	UTSW	17	84226040	missense	probably benign	0.00
R0052:Thada	UTSW	17	84455158	missense	probably damaging	0.99
R0052:Thada	UTSW	17	84455158	missense	probably damaging	0.99
R0357:Thada	UTSW	17	84230936	missense	probably damaging	1.00
R0388:Thada	UTSW	17	84231096	missense	probably benign	0.00
R0543:Thada	UTSW	17	84423163	missense	probably damaging	1.00
R0606:Thada	UTSW	17	84416303	missense	possibly damaging	0.90
R0630:Thada	UTSW	17	84229175	missense	probably damaging	1.00
R0664:Thada	UTSW	17	84336829	missense	probably damaging	1.00
R0855:Thada	UTSW	17	84436655	missense	probably damaging	1.00
R0972:Thada	UTSW	17	84429062	splice site	probably benign
R1297:Thada	UTSW	17	84252435	splice site	probably benign
R1465:Thada	UTSW	17	84436676	missense	possibly damaging	0.92
R1465:Thada	UTSW	17	84436676	missense	possibly damaging	0.92
R1490:Thada	UTSW	17	84446601	missense	possibly damaging	0.68
R1789:Thada	UTSW	17	84448033	missense	probably damaging	1.00
R1789:Thada	UTSW	17	84448034	missense	probably damaging	1.00
R1802:Thada	UTSW	17	84464407	missense	probably benign	0.34
R1831:Thada	UTSW	17	84231114	missense	probably damaging	0.97
R1834:Thada	UTSW	17	84226004	missense	possibly damaging	0.53
R1881:Thada	UTSW	17	84436702	missense	probably benign	0.19
R1925:Thada	UTSW	17	84444499	missense	probably benign	0.05
R1969:Thada	UTSW	17	84310042	missense	probably damaging	1.00
R1970:Thada	UTSW	17	84310042	missense	probably damaging	1.00
R1971:Thada	UTSW	17	84310042	missense	probably damaging	1.00
R2149:Thada	UTSW	17	84441764	missense	probably damaging	1.00
R2191:Thada	UTSW	17	84446521	missense	probably benign	0.00
R2571:Thada	UTSW	17	84454640	missense	probably damaging	0.99
R3405:Thada	UTSW	17	84230785	splice site	probably benign
R3406:Thada	UTSW	17	84230785	splice site	probably benign
R3916:Thada	UTSW	17	84441782	missense	possibly damaging	0.92
R4044:Thada	UTSW	17	84441707	missense	probably benign	0.41
R4461:Thada	UTSW	17	84426237	missense	probably damaging	1.00
R4662:Thada	UTSW	17	84435650	missense	probably damaging	1.00
R4696:Thada	UTSW	17	84426186	missense	possibly damaging	0.83
R4786:Thada	UTSW	17	84458855	missense	possibly damaging	0.66
R4803:Thada	UTSW	17	84272817	missense	probably damaging	0.96
R4835:Thada	UTSW	17	84441104	splice site	probably null
R4872:Thada	UTSW	17	84446599	missense	probably damaging	1.00
R4898:Thada	UTSW	17	84448042	splice site	probably null
R4903:Thada	UTSW	17	84252400	missense	possibly damaging	0.67
R4929:Thada	UTSW	17	84444226	missense	probably benign	0.01
R4959:Thada	UTSW	17	84444183	missense	probably damaging	1.00
R5071:Thada	UTSW	17	84386532	missense	probably damaging	1.00
R5092:Thada	UTSW	17	84444468	missense	probably damaging	0.97
R5398:Thada	UTSW	17	84426186	missense	probably benign	0.03
R5480:Thada	UTSW	17	84432254	missense	probably benign	0.00
R5552:Thada	UTSW	17	84429130	missense	probably benign	0.03
R5575:Thada	UTSW	17	84416399	splice site	probably null
R5623:Thada	UTSW	17	84191983	missense	probably benign	0.00
R5688:Thada	UTSW	17	84451727	missense	probably benign	0.00
R5704:Thada	UTSW	17	84230901	missense	probably benign	0.01
R6008:Thada	UTSW	17	84436634	missense	probably damaging	1.00
R6013:Thada	UTSW	17	84272800	missense	probably benign	0.00
R6072:Thada	UTSW	17	84192006	missense	possibly damaging	0.93
R6156:Thada	UTSW	17	84393367	missense	probably damaging	0.98
R6243:Thada	UTSW	17	84436602	missense	probably benign	0.01
R6449:Thada	UTSW	17	84429173	missense	probably benign
R6453:Thada	UTSW	17	84416323	missense	probably damaging	1.00
R6732:Thada	UTSW	17	84454414	splice site	probably null
R6907:Thada	UTSW	17	84393469	missense	probably damaging	1.00
R7117:Thada	UTSW	17	84230786	splice site	probably null
R7167:Thada	UTSW	17	84230963	missense	probably benign
R7221:Thada	UTSW	17	84464366	missense	possibly damaging	0.46
R7470:Thada	UTSW	17	84226041	missense	probably benign
R7753:Thada	UTSW	17	84252390	missense	probably damaging	1.00
R7809:Thada	UTSW	17	84451837	missense	possibly damaging	0.80
R7882:Thada	UTSW	17	84429196	missense	possibly damaging	0.85
R7971:Thada	UTSW	17	84272769	missense	possibly damaging	0.93
R8004:Thada	UTSW	17	84192205	missense	probably benign
R8153:Thada	UTSW	17	84393427	missense	possibly damaging	0.90
R8254:Thada	UTSW	17	84226040	missense	probably benign	0.00
R8426:Thada	UTSW	17	84222703	missense	probably benign	0.17
R8438:Thada	UTSW	17	84435629	missense	probably damaging	1.00
Z1176:Thada	UTSW	17	84444430	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCAATCTGAAGTGGCTGTCATTAAC -3'
(R):5'- CATTGGTACCTTATGCAAGTGAC -3'

Sequencing Primer
(F):5'- GCTTTCTTTACCACTTATAGAAGGG -3'
(R):5'- TGCAAGTGACCTCTTGGAAAC -3'

Posted On

2018-05-21