Incidental Mutation 'R9270:Thada'
ID 702879
Institutional Source Beutler Lab
Gene Symbol Thada
Ensembl Gene ENSMUSG00000024251
Gene Name thyroid adenoma associated
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9270 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 84497504-84773633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84538589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1473 (L1473Q)
Ref Sequence ENSEMBL: ENSMUSP00000041701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047524]
AlphaFold A8C756
Predicted Effect probably damaging
Transcript: ENSMUST00000047524
AA Change: L1473Q

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: L1473Q

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (85/85)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 T A 3: 30,652,781 (GRCm39) E104D probably damaging Het
Aig1 T C 10: 13,529,505 (GRCm39) probably null Het
Arih2 A T 9: 108,493,890 (GRCm39) D174E probably damaging Het
Asprv1 T C 6: 86,606,077 (GRCm39) F308L probably damaging Het
Baiap2l2 A G 15: 79,168,205 (GRCm39) probably null Het
Btla T C 16: 45,064,656 (GRCm39) F203L possibly damaging Het
C1rb A T 6: 124,551,947 (GRCm39) D283V probably damaging Het
C87436 C G 6: 86,442,813 (GRCm39) Q462E probably benign Het
Ccdc149 T C 5: 52,563,352 (GRCm39) D147G possibly damaging Het
Chd6 A T 2: 160,871,793 (GRCm39) L214* probably null Het
Chrna4 C A 2: 180,670,643 (GRCm39) R371L possibly damaging Het
Cpne5 A G 17: 29,444,163 (GRCm39) probably null Het
Cr1l T C 1: 194,789,204 (GRCm39) E400G possibly damaging Het
Creb3l2 T C 6: 37,332,583 (GRCm39) N304D probably damaging Het
Cyp17a1 T C 19: 46,656,030 (GRCm39) T420A probably benign Het
Cyp24a1 A G 2: 170,327,853 (GRCm39) I463T probably damaging Het
Cyp3a41b A T 5: 145,514,973 (GRCm39) I84N probably damaging Het
Dnajc6 G A 4: 101,496,559 (GRCm39) V909M possibly damaging Het
Dtl A G 1: 191,288,923 (GRCm39) Y264H probably damaging Het
Dynlt5 A G 4: 102,845,955 (GRCm39) probably null Het
Dysf C T 6: 84,077,216 (GRCm39) R660* probably null Het
Egf A G 3: 129,529,449 (GRCm39) probably null Het
Eva1c T C 16: 90,701,231 (GRCm39) S402P probably benign Het
Fcho2 A T 13: 98,925,869 (GRCm39) probably null Het
Fhdc1 G A 3: 84,352,290 (GRCm39) R197C unknown Het
Foxa2 T A 2: 147,886,426 (GRCm39) M136L probably benign Het
Gm10226 T C 17: 21,910,866 (GRCm39) C34R possibly damaging Het
Gm8947 T C 1: 151,068,853 (GRCm39) S229P probably benign Het
Ift56 C T 6: 38,366,109 (GRCm39) probably benign Het
Ighv9-2 A T 12: 114,072,896 (GRCm39) S26T probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kat6a T G 8: 23,420,190 (GRCm39) I745M probably damaging Het
Klhdc1 T C 12: 69,309,968 (GRCm39) L290P probably damaging Het
Lcp2 C T 11: 34,039,688 (GRCm39) T496I Het
Map4k4 T C 1: 40,042,923 (GRCm39) W593R probably benign Het
Mefv T G 16: 3,535,841 (GRCm39) Q29P probably damaging Het
Mgat5b T C 11: 116,859,269 (GRCm39) Y34H Het
Mlip C T 9: 77,137,080 (GRCm39) R609Q probably benign Het
Muc2 A G 7: 141,290,816 (GRCm39) D34G Het
Nbeal1 C T 1: 60,307,548 (GRCm39) P1687S possibly damaging Het
Notch1 T A 2: 26,369,895 (GRCm39) I477L probably damaging Het
Odad2 T A 18: 7,217,846 (GRCm39) K623* probably null Het
Or1l4b G A 2: 37,037,047 (GRCm39) M274I probably benign Het
Or1s2 T C 19: 13,758,333 (GRCm39) V117A probably benign Het
Or4a2 A T 2: 89,248,712 (GRCm39) L15Q probably damaging Het
Or51v8 T A 7: 103,320,124 (GRCm39) N38I probably damaging Het
Or6c214 A G 10: 129,591,148 (GRCm39) M57T probably damaging Het
Pak5 A T 2: 135,958,688 (GRCm39) S133R probably damaging Het
Pcyt1a C A 16: 32,285,332 (GRCm39) D187E probably benign Het
Pdlim7 G T 13: 55,655,354 (GRCm39) T161K probably damaging Het
Phf8-ps A C 17: 33,286,701 (GRCm39) C34G probably damaging Het
Pik3r4 A G 9: 105,547,108 (GRCm39) K962R probably benign Het
Pkd1l2 T C 8: 117,759,433 (GRCm39) K1516E probably damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Ptchd3 A T 11: 121,733,180 (GRCm39) Y690F probably benign Het
Ptpn13 A T 5: 103,649,735 (GRCm39) R379S possibly damaging Het
Rbm27 C T 18: 42,438,829 (GRCm39) A410V probably benign Het
Rnase4 A G 14: 51,342,662 (GRCm39) T129A probably benign Het
Serpinb11 C T 1: 107,304,533 (GRCm39) T166I probably benign Het
Shank2 A G 7: 143,963,705 (GRCm39) T438A possibly damaging Het
Slc13a2 T C 11: 78,295,258 (GRCm39) N172D probably damaging Het
Slc2a8 A G 2: 32,864,864 (GRCm39) F428L probably damaging Het
Slc38a6 T C 12: 73,398,544 (GRCm39) M358T probably benign Het
Snx29 A G 16: 11,213,155 (GRCm39) H107R probably benign Het
Spint3 G A 2: 164,415,154 (GRCm39) A21V probably benign Het
Susd1 A T 4: 59,412,226 (GRCm39) V162E probably benign Het
Syne2 T G 12: 75,977,834 (GRCm39) N1426K probably damaging Het
Synj2 T C 17: 6,067,875 (GRCm39) V638A possibly damaging Het
Trim36 G A 18: 46,300,580 (GRCm39) S697L possibly damaging Het
Ttbk1 A T 17: 46,781,517 (GRCm39) I412N possibly damaging Het
Tubb2a T C 13: 34,258,578 (GRCm39) D404G probably damaging Het
Tyk2 T A 9: 21,035,841 (GRCm39) N114Y probably damaging Het
Umodl1 A G 17: 31,185,678 (GRCm39) D139G probably damaging Het
Urb2 A G 8: 124,750,192 (GRCm39) probably benign Het
Vmn2r101 T A 17: 19,810,244 (GRCm39) N343K probably benign Het
Vnn1 A G 10: 23,780,464 (GRCm39) D484G probably damaging Het
Vps13b A G 15: 35,770,919 (GRCm39) T2121A probably benign Het
Wdr81 T C 11: 75,345,216 (GRCm39) E17G probably benign Het
Wnk2 T G 13: 49,224,505 (GRCm39) K1117Q probably benign Het
Zbtb46 C T 2: 181,066,138 (GRCm39) R4Q probably benign Het
Zfp608 T A 18: 55,032,190 (GRCm39) K583N probably damaging Het
Zfp729b A T 13: 67,740,480 (GRCm39) L595H 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
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
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
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'- TGCCCTTTAGCTTCAGCAAG -3'
(R):5'- GAGCCTCTGGTGCATTACAG -3'

Sequencing Primer
(F):5'- TTCAGCAAGCGACGCCC -3'
(R):5'- AGGAGCCCATTTTCTGAG -3'
Posted On 2022-03-25