Mutagenetix > Incidental Mutation

Incidental Mutation 'R6072:Thada'

482557

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84497504-84773633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84499434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1921 (D1921G)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047524] [ENSMUST00000060366]

AlphaFold

A8C756

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047524
AA Change: D1921G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: D1921G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060366

SMART Domains

Protein: ENSMUSP00000050820
Gene: ENSMUSG00000045817

Domain	Start	End	E-Value	Type
Pfam:Tis11B_N	1	144	1.5e-43	PFAM
ZnF_C3H1	155	182	9.8e-9	SMART
ZnF_C3H1	193	220	2.1e-8	SMART
low complexity region	223	235	N/A	INTRINSIC
low complexity region	286	340	N/A	INTRINSIC
low complexity region	345	364	N/A	INTRINSIC
low complexity region	401	418	N/A	INTRINSIC
low complexity region	436	470	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
Abca15	T	A	7: 119,987,481 (GRCm39)	C1256S	probably damaging	Het
Asic2	A	G	11: 80,784,914 (GRCm39)	S291P	probably damaging	Het
Asph	A	G	4: 9,643,533 (GRCm39)		probably null	Het
Ccdc57	T	A	11: 120,792,901 (GRCm39)	K284N	probably damaging	Het
Cfap210	A	T	2: 69,602,402 (GRCm39)	D336E	probably benign	Het
Dnm3	CAGCCTTCGTTGGGTG	C	1: 161,838,637 (GRCm39)		probably benign	Het
Dop1a	G	A	9: 86,389,750 (GRCm39)	S558N	probably benign	Het
F830045P16Rik	T	A	2: 129,314,614 (GRCm39)	Q221L	probably damaging	Het
Gm10146	A	G	10: 78,229,332 (GRCm39)		noncoding transcript	Het
Gys2	T	G	6: 142,374,263 (GRCm39)	D594A	probably damaging	Het
Irf9	A	G	14: 55,843,284 (GRCm39)	E114G	probably damaging	Het
Itpr2	T	G	6: 146,248,609 (GRCm39)	K1082T	probably damaging	Het
Krt14	C	T	11: 100,097,992 (GRCm39)	G97D	unknown	Het
Lmo7	A	T	14: 102,166,772 (GRCm39)		probably benign	Het
Nckap5l	A	T	15: 99,324,535 (GRCm39)	L656Q	probably damaging	Het
Ndufs8	T	C	19: 3,959,275 (GRCm39)	T129A	probably damaging	Het
Nosip	G	A	7: 44,726,072 (GRCm39)	V187M	possibly damaging	Het
Or4l1	A	T	14: 50,166,606 (GRCm39)	Y132N	probably damaging	Het
Or7g18	G	A	9: 18,786,718 (GRCm39)	V29I	probably benign	Het
Phf3	A	C	1: 30,869,769 (GRCm39)	N426K	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Pphln1-ps1	T	C	16: 13,495,353 (GRCm39)	S151P	probably damaging	Het
Ptpru	A	G	4: 131,503,539 (GRCm39)	S1164P	probably damaging	Het
Rcan1	T	C	16: 92,262,815 (GRCm39)	D51G	probably benign	Het
Rem1	A	G	2: 152,476,437 (GRCm39)	T232A	probably benign	Het
Slc1a3	T	A	15: 8,738,052 (GRCm39)	I59F	probably damaging	Het
Slc23a4	T	C	6: 34,925,357 (GRCm39)	K491E	probably benign	Het
Slc6a5	T	A	7: 49,561,943 (GRCm39)	D158E	probably damaging	Het
Smarca4	A	G	9: 21,611,417 (GRCm39)	N1510S	probably damaging	Het
Taf1d	T	C	9: 15,222,856 (GRCm39)	S241P	probably benign	Het
Tmem147	A	T	7: 30,427,445 (GRCm39)	M99K	possibly damaging	Het
Tulp1	T	C	17: 28,582,758 (GRCm39)	E130G	possibly damaging	Het
Tyw1	T	C	5: 130,296,752 (GRCm39)	V123A	possibly damaging	Het
Wdr75	T	C	1: 45,838,211 (GRCm39)	V40A	probably damaging	Het
Zfp683	T	C	4: 133,783,057 (GRCm39)	Y174H	probably benign	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
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
R7809:Thada	UTSW	17	84,759,265 (GRCm39)	missense	possibly damaging	0.80
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'- AGTGTGCTGCAGACAAGGTC -3'
(R):5'- CTCCCAGAAGCTCTGTCACTTG -3'

Sequencing Primer
(F):5'- CTGCAGACAAGGTCCTCAGTAG -3'
(R):5'- AGCTCTGTCACTTGCAAAGG -3'

Posted On

2017-07-14