Incidental Mutation 'R4959:Thada'
ID 382212
Institutional Source Beutler Lab
Gene Symbol Thada
Ensembl Gene ENSMUSG00000024251
Gene Name thyroid adenoma associated
Synonyms
MMRRC Submission 042556-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4959 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 84497504-84773633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84751611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 455 (Y455C)
Ref Sequence ENSEMBL: ENSMUSP00000041701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047524]
AlphaFold A8C756
Predicted Effect probably damaging
Transcript: ENSMUST00000047524
AA Change: Y455C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: Y455C

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.2%
  • 10x: 95.6%
  • 20x: 89.7%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
6820408C15Rik T A 2: 152,282,808 (GRCm39) I221K possibly damaging Het
Aadacl3 A T 4: 144,183,656 (GRCm39) C136S probably benign Het
Abhd16a T A 17: 35,321,318 (GRCm39) S498T probably benign Het
Acrv1 G A 9: 36,605,996 (GRCm39) probably null Het
Adamts18 G A 8: 114,463,357 (GRCm39) R830* probably null Het
Art3 A G 5: 92,551,478 (GRCm39) Y279C probably damaging Het
Atm A T 9: 53,426,601 (GRCm39) D552E probably benign Het
Ccdc154 T C 17: 25,389,888 (GRCm39) L508P probably damaging Het
Ccser2 A T 14: 36,662,753 (GRCm39) S144T probably benign Het
Cgn C T 3: 94,685,564 (GRCm39) A320T probably benign Het
Cklf A G 8: 104,988,184 (GRCm39) K106E probably benign Het
Clec12a C A 6: 129,330,628 (GRCm39) T70K probably benign Het
CN725425 G A 15: 91,129,904 (GRCm39) A256T possibly damaging Het
Crb2 G T 2: 37,680,482 (GRCm39) R470L probably damaging Het
Csn1s1 T G 5: 87,821,120 (GRCm39) S33A probably benign Het
D630045J12Rik C T 6: 38,125,302 (GRCm39) V1571M possibly damaging Het
Deup1 G A 9: 15,523,310 (GRCm39) Q58* probably null Het
Dph2 T A 4: 117,748,527 (GRCm39) D82V probably damaging Het
Dsp C T 13: 38,375,686 (GRCm39) A1157V probably benign Het
Evi5l G T 8: 4,255,406 (GRCm39) V477L probably benign Het
Fam187b T A 7: 30,681,687 (GRCm39) H131Q probably damaging Het
Fam193b A G 13: 55,691,097 (GRCm39) I259T probably damaging Het
Fam91a1 A G 15: 58,303,059 (GRCm39) T323A probably benign Het
Fat4 T G 3: 39,037,195 (GRCm39) S3616A probably benign Het
Fbxo38 A T 18: 62,655,578 (GRCm39) N369K probably benign Het
Fitm1 T A 14: 55,813,831 (GRCm39) probably null Het
Fkbp5 T C 17: 28,647,343 (GRCm39) E164G probably damaging Het
Fpr-rs3 T C 17: 20,844,211 (GRCm39) Y310C possibly damaging Het
Fryl A T 5: 73,192,401 (GRCm39) M2678K probably benign Het
Fsip2 T C 2: 82,815,169 (GRCm39) I3634T probably benign Het
Gm3233 T C 10: 77,595,399 (GRCm39) probably benign Het
Gzmd T G 14: 56,369,955 (GRCm39) T9P unknown Het
Htr2b A T 1: 86,027,813 (GRCm39) I231N probably damaging Het
Il2ra A G 2: 11,681,664 (GRCm39) T90A possibly damaging Het
Kbtbd2 A G 6: 56,758,943 (GRCm39) F60S probably benign Het
Kif21b G A 1: 136,076,108 (GRCm39) C299Y possibly damaging Het
Lsm5 A T 6: 56,680,309 (GRCm39) D44E probably damaging Het
Mapk1 T A 16: 16,836,170 (GRCm39) M106K probably damaging Het
Mpp2 A G 11: 101,954,117 (GRCm39) V193A probably damaging Het
Muc4 T C 16: 32,575,437 (GRCm39) S1398P possibly damaging Het
Ndufs2 A G 1: 171,065,578 (GRCm39) Y282H probably damaging Het
Nes T A 3: 87,882,983 (GRCm39) L414Q probably damaging Het
Neurl2 T A 2: 164,675,122 (GRCm39) probably null Het
Ngef A G 1: 87,431,070 (GRCm39) F159S possibly damaging Het
Nlrx1 T C 9: 44,165,448 (GRCm39) H816R possibly damaging Het
Or10v5 A G 19: 11,806,300 (GRCm39) L30P probably benign Het
Or1e22 A T 11: 73,376,893 (GRCm39) Y252* probably null Het
Or2f1 T C 6: 42,721,621 (GRCm39) S217P probably damaging Het
Or4c106 T C 2: 88,682,516 (GRCm39) V74A possibly damaging Het
Or4f17-ps1 T A 2: 111,357,969 (GRCm39) F103L probably damaging Het
Or4p7 T A 2: 88,221,674 (GRCm39) L28I probably benign Het
Or7g35 A G 9: 19,496,504 (GRCm39) T224A probably benign Het
Pcgf2 A T 11: 97,582,515 (GRCm39) Y7N possibly damaging Het
Pdlim5 G A 3: 142,017,740 (GRCm39) probably benign Het
Pdzd2 A G 15: 12,375,734 (GRCm39) V1467A probably damaging Het
Pigp C A 16: 94,160,006 (GRCm39) G134V probably benign Het
Pik3c2g T C 6: 139,789,657 (GRCm39) Y385H possibly damaging Het
Pnliprp2 G A 19: 58,754,750 (GRCm39) E265K probably benign Het
Prl3c1 G T 13: 27,386,471 (GRCm39) probably null Het
Ptpn4 A T 1: 119,692,826 (GRCm39) Y110* probably null Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
Rd3l C T 12: 111,946,578 (GRCm39) probably null Het
Rpl37 G A 15: 5,147,128 (GRCm39) R56Q possibly damaging Het
Rttn A T 18: 89,060,292 (GRCm39) H998L probably damaging Het
Rufy1 A T 11: 50,292,315 (GRCm39) F491L probably benign Het
Simc1 T G 13: 54,673,131 (GRCm39) V493G possibly damaging Het
Slc22a14 CTTTCCTGAA C 9: 119,003,101 (GRCm39) probably benign Het
Slc25a46 A T 18: 31,735,807 (GRCm39) I144N possibly damaging Het
Smtn A T 11: 3,477,825 (GRCm39) M1K probably null Het
Snd1 C A 6: 28,884,250 (GRCm39) Y766* probably null Het
Spata31d1d C T 13: 59,875,102 (GRCm39) G811D probably damaging Het
Spta1 A C 1: 174,074,174 (GRCm39) D2371A probably damaging Het
Stard6 A C 18: 70,631,631 (GRCm39) D74A possibly damaging Het
Stim2 G T 5: 54,262,712 (GRCm39) R318L probably benign Het
Sufu C T 19: 46,463,991 (GRCm39) T401I possibly damaging Het
Suz12 G A 11: 79,920,057 (GRCm39) G539D probably damaging Het
Sytl2 C G 7: 90,025,245 (GRCm39) S411C probably damaging Het
Taf6 G A 5: 138,181,465 (GRCm39) Q156* probably null Het
Tead4 T C 6: 128,247,950 (GRCm39) D29G probably damaging Het
Tlr6 G C 5: 65,111,002 (GRCm39) T635S possibly damaging Het
Tlr9 A G 9: 106,101,876 (GRCm39) D389G probably benign Het
Tmem54 A T 4: 129,002,073 (GRCm39) H40L probably damaging Het
Trappc9 G T 15: 72,808,905 (GRCm39) N540K probably damaging Het
Trbv28 C T 6: 41,248,788 (GRCm39) S106F probably damaging Het
Trrap A T 5: 144,793,770 (GRCm39) H3384L probably damaging Het
Usp16 T A 16: 87,277,802 (GRCm39) M684K probably damaging Het
Vat1 G A 11: 101,351,426 (GRCm39) T305M probably damaging Het
Vmn2r85 A G 10: 130,257,302 (GRCm39) S544P probably damaging Het
Vps8 T C 16: 21,278,536 (GRCm39) S267P probably damaging Het
Ylpm1 T A 12: 85,096,719 (GRCm39) V1242E probably damaging Het
Zfp267 C T 3: 36,218,285 (GRCm39) R102C possibly damaging Het
Zfp322a T C 13: 23,541,052 (GRCm39) Y230C probably damaging Het
Zfp352 T A 4: 90,112,376 (GRCm39) V172E probably benign Het
Zfp936 A T 7: 42,839,034 (GRCm39) H167L probably damaging Het
Zkscan14 A G 5: 145,132,302 (GRCm39) Y410H probably benign Het
Zkscan17 A G 11: 59,394,538 (GRCm39) M21T probably damaging Het
Zswim4 G T 8: 84,938,852 (GRCm39) A1010D probably benign Het
Other mutations in Thada
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAGTTTGGGACTTCAAATGGC -3'
(R):5'- CATCTGAACGGGGACTCATG -3'

Sequencing Primer
(F):5'- GGGACTTCAAATGGCTCTTATG -3'
(R):5'- GACTCATGCGTACCTAGGAGACTTC -3'
Posted On 2016-04-27