Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Thada'

309781

Institutional Source

Beutler Lab

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 #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84190056-84466196 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84441782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 587 (A587V)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047524
AA Change: A587V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: A587V

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	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
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

Predicted Primers

PCR Primer
(F):5'- TTCAACTCAGGGGCCTCTAG -3'
(R):5'- GCATGAGCAATTATCTCCAGTC -3'

Sequencing Primer
(F):5'- GCCTCTAGCTGGGCTACTAAAG -3'
(R):5'- CATTGCATAGCACAGGAA -3'

Posted On

2015-04-17