Mutagenetix > Incidental Mutation

Incidental Mutation 'R8004:Thada'

616542

Institutional Source

Beutler Lab

Gene Symbol

Thada

Ensembl Gene

ENSMUSG00000024251

Gene Name

thyroid adenoma associated

Synonyms

MMRRC Submission

046044-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84497504-84773633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84499633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1855 (S1855P)

Ref Sequence

ENSEMBL: ENSMUSP00000041701 (fasta)

Gene Model

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

AlphaFold

A8C756

Predicted Effect

probably benign
Transcript: ENSMUST00000047524
AA Change: S1855P

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

SMART Domains

Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: S1855P

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 12,021,286 (GRCm39)		probably benign	Het
Abcb11	T	A	2: 69,087,554 (GRCm39)	K1070N	possibly damaging	Het
Ankrd24	T	A	10: 81,474,191 (GRCm39)	N179K	unknown	Het
Atp6v0a4	A	T	6: 38,027,484 (GRCm39)	F775L	possibly damaging	Het
Bbs2	A	G	8: 94,809,118 (GRCm39)	V269A	possibly damaging	Het
Bpifc	T	G	10: 85,815,148 (GRCm39)	S273R	probably benign	Het
Cdan1	C	T	2: 120,561,924 (GRCm39)	R20Q	unknown	Het
Cfap251	T	C	5: 123,392,513 (GRCm39)	W216R	unknown	Het
Chrm2	T	A	6: 36,500,221 (GRCm39)	I26N	probably damaging	Het
Cngb3	A	G	4: 19,505,273 (GRCm39)	K669E	possibly damaging	Het
Cnot1	T	C	8: 96,479,380 (GRCm39)	I876V	probably benign	Het
Col12a1	T	A	9: 79,591,683 (GRCm39)	T926S	probably damaging	Het
Cyp2b23	G	T	7: 26,378,891 (GRCm39)	T191K	probably benign	Het
Dipk1a	T	C	5: 108,057,532 (GRCm39)	D342G	probably damaging	Het
Dpp4	A	G	2: 62,189,172 (GRCm39)	V453A	probably benign	Het
Eif2ak4	T	C	2: 118,247,775 (GRCm39)	S271P	possibly damaging	Het
Fbxw20	G	T	9: 109,050,449 (GRCm39)	P392H	probably damaging	Het
Fcho2	T	A	13: 98,926,013 (GRCm39)	E118V	possibly damaging	Het
Gm2042	C	G	12: 87,926,921 (GRCm39)	Q413E	possibly damaging	Het
Gm904	G	A	13: 50,799,343 (GRCm39)		probably null	Het
H2-D1	A	G	17: 35,485,672 (GRCm39)	S352G	probably benign	Het
Igf2bp3	C	A	6: 49,067,954 (GRCm39)	V451L	probably benign	Het
Igkv1-99	T	C	6: 68,519,112 (GRCm39)	V23A		Het
Igsf10	A	G	3: 59,237,130 (GRCm39)	I1017T	probably benign	Het
Il18r1	G	A	1: 40,513,917 (GRCm39)	C41Y	probably damaging	Het
Itgb4	A	G	11: 115,873,531 (GRCm39)	D249G	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrn2	T	A	1: 132,865,489 (GRCm39)	F185I	probably damaging	Het
Mllt6	G	T	11: 97,566,966 (GRCm39)	E635D	possibly damaging	Het
Msh6	A	G	17: 88,294,215 (GRCm39)	E990G	probably damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Nfatc2ip	A	G	7: 125,989,577 (GRCm39)	V269A	possibly damaging	Het
Nfkb1	C	A	3: 135,297,312 (GRCm39)		probably benign	Het
Nol12	A	T	15: 78,824,717 (GRCm39)	K181N	probably damaging	Het
Npl	T	A	1: 153,379,286 (GRCm39)	T266S	probably benign	Het
Oog2	A	T	4: 143,920,821 (GRCm39)	I85L	probably benign	Het
Or5k3	T	A	16: 58,969,351 (GRCm39)	V46E	probably damaging	Het
Or7e171-ps1	A	T	9: 19,853,408 (GRCm39)	D109E	possibly damaging	Het
Parm1	A	C	5: 91,742,132 (GRCm39)	S167R	probably benign	Het
Pcsk4	T	C	10: 80,158,674 (GRCm39)	D526G	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Psmd9	T	C	5: 123,379,998 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,749,242 (GRCm39)	V1220A	probably damaging	Het
Rbm25	A	T	12: 83,721,166 (GRCm39)	E577D	possibly damaging	Het
Rbm44	T	A	1: 91,079,880 (GRCm39)		probably benign	Het
S100a6	T	C	3: 90,521,119 (GRCm39)	F16L	probably benign	Het
Sar1a	C	A	10: 61,520,945 (GRCm39)	H53Q	probably benign	Het
Setd2	G	A	9: 110,421,613 (GRCm39)	A282T		Het
Slc35f5	A	T	1: 125,517,624 (GRCm39)	H474L	probably damaging	Het
Slc4a3	T	C	1: 75,525,711 (GRCm39)		probably null	Het
Smc1b	G	A	15: 84,981,815 (GRCm39)	S735F	probably damaging	Het
Sp3	A	T	2: 72,800,552 (GRCm39)	I531K	possibly damaging	Het
St6galnac5	A	T	3: 152,545,802 (GRCm39)	M252K	probably damaging	Het
Tas2r120	T	A	6: 132,634,390 (GRCm39)	H157Q	possibly damaging	Het
Tbc1d10b	T	A	7: 126,798,183 (GRCm39)	S653C	probably damaging	Het
Tex10	T	C	4: 48,452,047 (GRCm39)	E693G	possibly damaging	Het
Tjp2	G	A	19: 24,091,484 (GRCm39)	P559L	probably damaging	Het
Tmem184b	A	G	15: 79,246,966 (GRCm39)	S368P	probably damaging	Het
Tnc	G	A	4: 63,902,894 (GRCm39)	S1461L	probably benign	Het
Tnpo2	T	C	8: 85,771,328 (GRCm39)	F177S	probably benign	Het
Vmn1r58	A	T	7: 5,413,506 (GRCm39)	Y241*	probably null	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
R6072:Thada	UTSW	17	84,499,434 (GRCm39)	missense	possibly damaging	0.93
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
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'- TGGGGCCATTACTTGTCTCC -3'
(R):5'- AGGACTCCTCGGAGACTTAC -3'

Sequencing Primer
(F):5'- ATTCCCTAGGGCAGTCTTCGG -3'
(R):5'- GAGACTTACTCTGGCTGTTTGTCAC -3'

Posted On

2020-01-23