Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Thada'

285713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

84190056-84466196 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84428697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 970 (D970V)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

probably damaging
Transcript: ENSMUST00000047524
AA Change: D970V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: D970V

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	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
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
R6474:Thada	UTSW	17	84443911	missense	possibly damaging	0.83
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
R8670:Thada	UTSW	17	84432346	missense	probably benign	0.16
R8679:Thada	UTSW	17	84229209	missense	probably benign	0.28
R8952:Thada	UTSW	17	84429096	missense	probably benign	0.01
R8983:Thada	UTSW	17	84231087	missense	probably benign	0.00
R9009:Thada	UTSW	17	84451775	missense	possibly damaging	0.54
R9050:Thada	UTSW	17	84429201	missense	probably damaging	0.99
R9091:Thada	UTSW	17	84231161	missense	probably damaging	0.96
R9225:Thada	UTSW	17	84441744	missense	possibly damaging	0.90
R9251:Thada	UTSW	17	84231136	missense	probably benign	0.00
R9270:Thada	UTSW	17	84231161	missense	probably damaging	0.96
R9299:Thada	UTSW	17	84441777	missense	probably benign	0.01
R9337:Thada	UTSW	17	84441777	missense	probably benign	0.01
R9360:Thada	UTSW	17	84191982	missense	probably benign
R9416:Thada	UTSW	17	84458864	nonsense	probably null
R9484:Thada	UTSW	17	84429191	missense	probably damaging	1.00
R9584:Thada	UTSW	17	84426177	missense	probably benign
R9631:Thada	UTSW	17	84231156	missense	probably benign	0.17
Z1176:Thada	UTSW	17	84444430	missense	possibly damaging	0.92

Posted On

2015-04-16