Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01693:Thada'

104172

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01693

Quality Score

Status

Chromosome

Chromosomal Location

84190056-84466196 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84446644 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 300 (T300A)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047524
AA Change: T300A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: T300A

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830406C13Rik	T	C	14: 12,287,380	L55P	probably damaging	Het
Akr1b8	T	A	6: 34,363,336	M145K	possibly damaging	Het
Arhgap39	T	C	15: 76,725,967	D943G	probably null	Het
Arhgap42	A	T	9: 9,006,506	W630R	probably damaging	Het
Bbs5	T	A	2: 69,663,080	S225T	probably benign	Het
Cacna1f	A	T	X: 7,625,367	N1159Y	probably damaging	Het
Catsperg1	A	G	7: 29,185,098		probably benign	Het
Cep97	A	T	16: 55,930,594	W20R	probably damaging	Het
Cmtm8	G	A	9: 114,789,705	T160M	probably damaging	Het
Csf2ra	A	G	19: 61,225,996	S244P	possibly damaging	Het
Dnah7b	C	T	1: 46,358,147	P3913S	probably benign	Het
Ezh1	C	T	11: 101,215,258	M100I	probably benign	Het
Gadl1	C	A	9: 115,949,585	P189Q	probably damaging	Het
Gcnt2	G	A	13: 40,888,073	S236N	probably benign	Het
Gm17689	G	A	9: 36,581,366	T81I	probably benign	Het
H1fnt	A	C	15: 98,256,381	Y296D	unknown	Het
Hmcn1	T	A	1: 150,583,280	D5191V	probably damaging	Het
Mycbp2	A	T	14: 103,127,979	D4194E	probably damaging	Het
Ncf2	C	A	1: 152,824,323	T203K	probably benign	Het
Olfr76	C	A	19: 12,120,557	V40L	probably benign	Het
Phf8	T	A	X: 151,550,875	V113E	probably damaging	Het
Pkm	G	T	9: 59,670,522	K207N	probably damaging	Het
Slco1a6	G	T	6: 142,133,209	S120*	probably null	Het
Sox10	C	T	15: 79,156,273	V195M	possibly damaging	Het
Swt1	A	G	1: 151,422,104	I24T	probably benign	Het
Tmem2	A	C	19: 21,801,887	I354L	probably benign	Het
Vmn2r17	T	C	5: 109,452,518	Y561H	probably damaging	Het
Wdr78	T	C	4: 103,087,330		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
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
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
Z1176:Thada	UTSW	17	84444430	missense	possibly damaging	0.92

Posted On

2014-01-21