Incidental Mutation 'R1834:Thada'
ID 205117
Institutional Source Beutler Lab
Gene Symbol Thada
Ensembl Gene ENSMUSG00000024251
Gene Name thyroid adenoma associated
Synonyms
MMRRC Submission 039861-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1834 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 84497504-84773633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84533432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1673 (V1673A)
Ref Sequence ENSEMBL: ENSMUSP00000041701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047524]
AlphaFold A8C756
Predicted Effect possibly damaging
Transcript: ENSMUST00000047524
AA Change: V1673A

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: V1673A

DomainStartEndE-ValueType
SCOP:d1gw5a_ 457 926 3e-6 SMART
Pfam:DUF2428 938 1239 1.6e-93 PFAM
SCOP:d1gw5a_ 1343 1802 7e-6 SMART
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 97% (116/119)
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,313 (GRCm39) D20G probably damaging Het
2310061N02Rik T A 16: 88,504,786 (GRCm39) S4C unknown Het
Abca3 A T 17: 24,595,666 (GRCm39) N340Y probably benign Het
Abcc1 A G 16: 14,240,981 (GRCm39) I513V possibly damaging Het
Acacb C T 5: 114,373,536 (GRCm39) T1855M probably damaging Het
Ace A G 11: 105,876,920 (GRCm39) probably benign Het
Acss2 T A 2: 155,400,550 (GRCm39) Y530N probably damaging Het
Adarb1 C A 10: 77,153,065 (GRCm39) probably benign Het
Afm T A 5: 90,674,283 (GRCm39) M265K probably benign Het
Agl A G 3: 116,582,000 (GRCm39) F293S probably benign Het
Aox1 G A 1: 58,348,150 (GRCm39) A623T probably benign Het
Arhgap31 C A 16: 38,424,065 (GRCm39) S667I probably benign Het
Bco1 A G 8: 117,844,176 (GRCm39) T297A probably benign Het
Bmp1 T C 14: 70,746,271 (GRCm39) S123G possibly damaging Het
Caps2 G A 10: 112,031,623 (GRCm39) D283N possibly damaging Het
Ccdc57 A C 11: 120,752,045 (GRCm39) S845R probably benign Het
Cd209f A G 8: 4,154,491 (GRCm39) S119P probably damaging Het
Chrna6 A G 8: 27,897,242 (GRCm39) S212P probably benign Het
Col10a1 G C 10: 34,271,011 (GRCm39) A328P probably damaging Het
Col4a2 A G 8: 11,452,997 (GRCm39) E188G probably benign Het
Creb1 C T 1: 64,590,109 (GRCm39) Q32* probably null Het
Cttnbp2 C T 6: 18,501,965 (GRCm39) V16M probably damaging Het
D430041D05Rik A G 2: 103,998,446 (GRCm39) S1102P probably damaging Het
Ddx31 C T 2: 28,782,465 (GRCm39) H603Y probably damaging Het
Ddx52 G A 11: 83,850,323 (GRCm39) C568Y probably benign Het
Dgki C A 6: 37,011,636 (GRCm39) probably benign Het
Dmrt1 A T 19: 25,487,063 (GRCm39) Q123L probably damaging Het
Dnah5 A T 15: 28,409,270 (GRCm39) M3563L probably benign Het
Dnah7b A T 1: 46,272,919 (GRCm39) N2349I possibly damaging Het
Dscaml1 T G 9: 45,594,930 (GRCm39) S678A probably benign Het
Ece1 C T 4: 137,685,312 (GRCm39) R601W probably damaging Het
Ece1 A G 4: 137,685,439 (GRCm39) N643S probably damaging Het
Eno1b A G 18: 48,180,530 (GRCm39) Y236C probably damaging Het
Esco1 T C 18: 10,594,350 (GRCm39) E312G probably damaging Het
Eya3 T A 4: 132,434,429 (GRCm39) V276E probably damaging Het
Fam161b A G 12: 84,395,552 (GRCm39) probably benign Het
Fem1c C T 18: 46,638,349 (GRCm39) G551D probably damaging Het
Fer1l6 T C 15: 58,429,718 (GRCm39) I155T possibly damaging Het
Gbp7 A G 3: 142,240,441 (GRCm39) Y53C probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm10030 C T 9: 110,833,947 (GRCm39) noncoding transcript Het
Gm3443 T A 19: 21,533,043 (GRCm39) H2Q unknown Het
Gm5800 T C 14: 51,953,549 (GRCm39) E22G possibly damaging Het
Gsdma2 G T 11: 98,539,905 (GRCm39) R9L probably damaging Het
Gvin3 A T 7: 106,202,983 (GRCm39) V87D possibly damaging Het
Ica1l A G 1: 60,067,395 (GRCm39) probably benign Het
Ice1 G A 13: 70,763,457 (GRCm39) T167I probably damaging Het
Ifi204 T A 1: 173,575,172 (GRCm39) R618S unknown Het
Itga2 C A 13: 114,993,262 (GRCm39) K784N probably damaging Het
Itga2 T A 13: 114,993,263 (GRCm39) K784M probably damaging Het
Kif3b A G 2: 153,159,405 (GRCm39) E402G probably benign Het
Lrp2 T C 2: 69,297,224 (GRCm39) I3246V probably benign Het
Lrrn3 G T 12: 41,503,517 (GRCm39) L267I probably damaging Het
Map1s A G 8: 71,369,055 (GRCm39) Y868C probably damaging Het
Mcm5 A G 8: 75,845,901 (GRCm39) T370A possibly damaging Het
Nat8f7 T C 6: 85,684,793 (GRCm39) S16G probably benign Het
Nav3 T C 10: 109,555,883 (GRCm39) T1683A probably damaging Het
Nbeal2 T C 9: 110,456,197 (GRCm39) N2417S probably damaging Het
Neb T C 2: 52,126,907 (GRCm39) N3605S probably damaging Het
Net1 A T 13: 3,962,941 (GRCm39) probably benign Het
Nsd1 A G 13: 55,461,164 (GRCm39) T2464A possibly damaging Het
Nt5e T A 9: 88,252,240 (GRCm39) I534N probably damaging Het
Nudt12 T A 17: 59,318,071 (GRCm39) H58L probably damaging Het
Ocrl T A X: 47,050,993 (GRCm39) I74N probably damaging Het
Or1a1 A G 11: 74,086,479 (GRCm39) H50R probably benign Het
Or2ag13 A G 7: 106,473,348 (GRCm39) Y35H probably damaging Het
Or5ae2 A G 7: 84,505,690 (GRCm39) T38A probably damaging Het
Or9k2b A G 10: 130,016,701 (GRCm39) I16T probably benign Het
Pef1 C A 4: 130,014,966 (GRCm39) C10* probably null Het
Phf21b A G 15: 84,681,547 (GRCm39) Y256H probably damaging Het
Phox2a G T 7: 101,470,152 (GRCm39) probably null Het
Pi16 A G 17: 29,546,419 (GRCm39) E399G possibly damaging Het
Pipox A T 11: 77,772,949 (GRCm39) Y321N probably damaging Het
Plin4 A G 17: 56,410,522 (GRCm39) S1170P probably damaging Het
Pnma2 C T 14: 67,154,662 (GRCm39) S362L possibly damaging Het
Ppp1r9a T C 6: 5,113,710 (GRCm39) I738T probably damaging Het
Prkcsh A T 9: 21,919,634 (GRCm39) K188M probably damaging Het
Rcc1l A T 5: 134,192,498 (GRCm39) Y309N probably damaging Het
Ripk1 A G 13: 34,199,196 (GRCm39) T123A probably benign Het
Robo4 A G 9: 37,324,355 (GRCm39) D961G probably benign Het
Rps27a A G 11: 29,496,299 (GRCm39) Y105H probably benign Het
Scaper A G 9: 55,724,018 (GRCm39) Y641H possibly damaging Het
Scn1a C A 2: 66,154,960 (GRCm39) Q666H probably benign Het
Scn1a T A 2: 66,154,961 (GRCm39) Q666L probably benign Het
Sdhaf4 T C 1: 24,042,234 (GRCm39) probably null Het
Sec14l3 A G 11: 4,016,510 (GRCm39) probably benign Het
Selp C A 1: 163,955,729 (GRCm39) probably null Het
Sim1 A G 10: 50,785,924 (GRCm39) D259G probably damaging Het
Sptan1 T A 2: 29,882,013 (GRCm39) probably benign Het
Sptbn4 T A 7: 27,066,071 (GRCm39) E679V probably null Het
Sytl3 G A 17: 6,995,726 (GRCm39) E169K probably benign Het
Taar1 T C 10: 23,797,087 (GRCm39) C262R probably benign Het
Taf7l2 T C 10: 115,948,570 (GRCm39) R319G probably benign Het
Tbc1d32 A G 10: 55,893,700 (GRCm39) I1291T probably benign Het
Tet1 G A 10: 62,649,444 (GRCm39) P89S probably damaging Het
Tgfbrap1 C A 1: 43,110,795 (GRCm39) G7W probably damaging Het
Thbs4 A G 13: 92,897,989 (GRCm39) V610A probably benign Het
Tmem163 A G 1: 127,605,246 (GRCm39) S41P probably benign Het
Tmem65 A T 15: 58,658,962 (GRCm39) H200Q probably damaging Het
Trgc3 A G 13: 19,447,535 (GRCm39) T163A possibly damaging Het
Trim62 T C 4: 128,803,018 (GRCm39) V356A possibly damaging Het
Ttn T C 2: 76,562,502 (GRCm39) D28781G probably damaging Het
Ttn C T 2: 76,593,604 (GRCm39) V20679I probably benign Het
Tut7 A T 13: 59,962,749 (GRCm39) Y339* probably null Het
Unc80 A T 1: 66,678,407 (GRCm39) T2063S possibly damaging Het
Vav3 A G 3: 109,413,742 (GRCm39) T227A probably benign Het
Vmn2r118 A T 17: 55,899,456 (GRCm39) I816N probably damaging Het
Vmn2r26 T A 6: 124,038,369 (GRCm39) M648K possibly damaging Het
Vmn2r88 T G 14: 51,650,487 (GRCm39) probably benign Het
Vwa3a A G 7: 120,389,359 (GRCm39) T66A probably benign Het
Xirp2 T A 2: 67,341,484 (GRCm39) Y1242N probably damaging Het
Ywhag G A 5: 135,940,384 (GRCm39) T70M probably damaging Het
Zfp248 T C 6: 118,405,931 (GRCm39) T452A probably damaging Het
Zfp988 A T 4: 147,417,344 (GRCm39) I593F probably damaging 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
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
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'- AGCCTGGAATGTGTGTCTC -3'
(R):5'- AGCTCTTGTTACTGGCTGC -3'

Sequencing Primer
(F):5'- TGGAATGTGTGTCTCTTCCTC -3'
(R):5'- GTGGCTTCCCAATAAACCTGC -3'
Posted On 2014-06-23