Incidental Mutation 'R1971:Thada'
ID 220987
Institutional Source Beutler Lab
Gene Symbol Thada
Ensembl Gene ENSMUSG00000024251
Gene Name thyroid adenoma associated
Synonyms
MMRRC Submission 039984-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1971 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 84497504-84773633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84617470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 1349 (P1349T)
Ref Sequence ENSEMBL: ENSMUSP00000041701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047524]
AlphaFold A8C756
Predicted Effect probably damaging
Transcript: ENSMUST00000047524
AA Change: P1349T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: P1349T

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 0.2332 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (115/116)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,686,566 (GRCm39) I242N probably benign Het
2510009E07Rik G T 16: 21,472,048 (GRCm39) Y217* probably null Het
4931429L15Rik C T 9: 46,220,086 (GRCm39) V149M probably benign Het
Abcg8 G T 17: 85,002,587 (GRCm39) probably benign Het
Acox1 A G 11: 116,089,087 (GRCm39) F77S probably benign Het
Adgrb3 G T 1: 25,586,525 (GRCm39) H389Q probably benign Het
Ak7 A G 12: 105,692,504 (GRCm39) N186S probably damaging Het
Apobr A G 7: 126,185,397 (GRCm39) T303A probably benign Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Bcl9l T C 9: 44,419,996 (GRCm39) probably null Het
Bco2 T C 9: 50,457,284 (GRCm39) D86G probably damaging Het
Bmpr1b T A 3: 141,563,333 (GRCm39) I204F probably damaging Het
Bpifb5 C A 2: 154,072,264 (GRCm39) Q324K probably benign Het
Cacna2d2 G A 9: 107,389,205 (GRCm39) V223I probably damaging Het
Capn3 A G 2: 120,311,228 (GRCm39) D105G possibly damaging Het
Ccdc40 G T 11: 119,153,901 (GRCm39) probably null Het
Ccdc83 T A 7: 89,893,362 (GRCm39) S132C probably damaging Het
Ckap2l A G 2: 129,127,342 (GRCm39) S279P possibly damaging Het
Cldn12 C A 5: 5,558,137 (GRCm39) A97S probably benign Het
Clec2l T G 6: 38,640,309 (GRCm39) S47A probably benign Het
Csnk1d C A 11: 120,863,274 (GRCm39) R222M possibly damaging Het
Ctnna1 T A 18: 35,287,580 (GRCm39) D96E probably benign Het
D630045J12Rik T C 6: 38,145,078 (GRCm39) D1316G probably damaging Het
Ddx4 C T 13: 112,736,547 (GRCm39) V608I probably damaging Het
Dmtf1 T C 5: 9,198,989 (GRCm39) E48G probably benign Het
Dnah17 G C 11: 117,995,361 (GRCm39) Q996E probably benign Het
Dnah9 G C 11: 65,739,197 (GRCm39) N4180K probably damaging Het
Dpf3 T A 12: 83,371,809 (GRCm39) probably null Het
Drd2 T C 9: 49,318,359 (GRCm39) F434L probably damaging Het
En1 A G 1: 120,534,742 (GRCm39) T344A unknown Het
Eri3 A G 4: 117,421,964 (GRCm39) T81A probably benign Het
Fam20a T C 11: 109,576,237 (GRCm39) Y174C probably damaging Het
Fam234a G C 17: 26,435,629 (GRCm39) probably null Het
Fam76a A T 4: 132,631,294 (GRCm39) I217N probably damaging Het
Fancm T A 12: 65,148,466 (GRCm39) S694T probably benign Het
Fcgbpl1 C A 7: 27,830,937 (GRCm39) A50E possibly damaging Het
Foxo3 A G 10: 42,073,258 (GRCm39) S420P probably benign Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Gm136 T G 4: 34,755,986 (GRCm39) D9A probably benign Het
Gstt2 G T 10: 75,668,499 (GRCm39) T116N probably benign Het
Hs3st6 A G 17: 24,972,267 (GRCm39) T70A probably benign Het
Hspa14 A G 2: 3,490,804 (GRCm39) V461A possibly damaging Het
Itih5 A T 2: 10,243,379 (GRCm39) D372V probably damaging Het
Kcna2 A T 3: 107,012,140 (GRCm39) R240S probably damaging Het
Kctd18 T C 1: 58,006,779 (GRCm39) I24V probably benign Het
Lap3 T C 5: 45,663,508 (GRCm39) probably benign Het
Lcp1 T C 14: 75,437,946 (GRCm39) S119P probably damaging Het
Lig3 G C 11: 82,686,544 (GRCm39) D642H probably benign Het
Lpin1 A T 12: 16,630,724 (GRCm39) L58H probably damaging Het
Map4k5 G T 12: 69,873,102 (GRCm39) P468Q possibly damaging Het
Med31 G A 11: 72,106,244 (GRCm39) probably benign Het
Mki67 A T 7: 135,315,688 (GRCm39) probably null Het
Mrc1 G A 2: 14,249,103 (GRCm39) probably null Het
Msh3 A G 13: 92,359,784 (GRCm39) I16T probably damaging Het
Msh3 T A 13: 92,386,328 (GRCm39) probably benign Het
Mst1r A T 9: 107,790,411 (GRCm39) I675F probably benign Het
Myb A C 10: 21,016,555 (GRCm39) S652A probably benign Het
Myh2 G T 11: 67,080,004 (GRCm39) S1099I possibly damaging Het
Myl6b A G 10: 128,330,512 (GRCm39) V181A probably damaging Het
Myt1l A T 12: 29,877,091 (GRCm39) K247N unknown Het
Nanos2 G T 7: 18,721,629 (GRCm39) V34L probably benign Het
Nav1 T C 1: 135,460,091 (GRCm39) T411A probably benign Het
Nedd9 T A 13: 41,492,424 (GRCm39) I23F probably damaging Het
Nes G A 3: 87,885,634 (GRCm39) V1254I possibly damaging Het
Nol6 A G 4: 41,119,542 (GRCm39) F588S probably damaging Het
Numa1 C T 7: 101,658,529 (GRCm39) A1605V probably damaging Het
Ofd1 T C X: 165,210,210 (GRCm39) Y205C probably benign Het
Olr1 T C 6: 129,470,498 (GRCm39) E223G probably benign Het
Or1e30 T A 11: 73,678,616 (GRCm39) M284K probably damaging Het
Or2ag12 T A 7: 106,276,877 (GRCm39) N272I probably damaging Het
Or4c118 A T 2: 88,975,078 (GRCm39) C96* probably null Het
Or51k2 A T 7: 103,596,150 (GRCm39) I126F probably damaging Het
Or51l4 C T 7: 103,404,527 (GRCm39) W88* probably null Het
Pate6 T A 9: 35,700,309 (GRCm39) H92L probably benign Het
Pclo A G 5: 14,763,487 (GRCm39) T3987A unknown Het
Pik3cg A T 12: 32,242,152 (GRCm39) V986D probably damaging Het
Pitpnm1 T A 19: 4,162,450 (GRCm39) D1093E probably damaging Het
Ppp1r12b T C 1: 134,793,651 (GRCm39) D571G probably benign Het
Rfx1 A G 8: 84,822,126 (GRCm39) E875G probably damaging Het
Rnf145 T A 11: 44,439,642 (GRCm39) I146N probably damaging Het
Rttn G A 18: 89,108,557 (GRCm39) R1587H probably benign Het
Safb A G 17: 56,912,821 (GRCm39) H883R probably benign Het
Sdhb A G 4: 140,700,260 (GRCm39) D120G possibly damaging Het
Serpine3 A G 14: 62,902,533 (GRCm39) N48S probably damaging Het
Sgms1 T A 19: 32,137,357 (GRCm39) I70L probably benign Het
Slc1a7 G T 4: 107,825,782 (GRCm39) D14Y probably benign Het
Smtnl2 C T 11: 72,302,183 (GRCm39) A93T probably benign Het
Srpra T C 9: 35,124,834 (GRCm39) probably null Het
Taf6l A G 19: 8,752,866 (GRCm39) probably null Het
Tbc1d10b A T 7: 126,807,036 (GRCm39) V167E probably benign Het
Tbc1d9 G A 8: 83,976,139 (GRCm39) R566H probably damaging Het
Tenm3 A G 8: 48,689,348 (GRCm39) Y2080H probably damaging Het
Tex14 A G 11: 87,402,431 (GRCm39) N506S probably damaging Het
Tjp1 G T 7: 64,973,826 (GRCm39) T476K probably damaging Het
Tlr11 A T 14: 50,598,691 (GRCm39) T226S probably benign Het
Tmem131 G A 1: 36,843,680 (GRCm39) Q1394* probably null Het
Tmem161a C T 8: 70,629,559 (GRCm39) R58W probably damaging Het
Tmem219 T C 7: 126,496,422 (GRCm39) S13G probably benign Het
Trp53bp1 T C 2: 121,035,517 (GRCm39) Y47C probably damaging Het
Ttn T A 2: 76,731,922 (GRCm39) probably benign Het
Ush1g A G 11: 115,209,280 (GRCm39) S305P probably damaging Het
Usp37 A T 1: 74,479,127 (GRCm39) Y948* probably null Het
Vav1 A T 17: 57,634,697 (GRCm39) Y805F probably damaging Het
Vmn1r59 A T 7: 5,457,038 (GRCm39) Y241N probably damaging Het
Vmn2r2 T A 3: 64,034,121 (GRCm39) Y467F probably damaging Het
Vps35l A C 7: 118,374,557 (GRCm39) R352S probably damaging Het
Vps54 C A 11: 21,242,051 (GRCm39) L389I probably damaging Het
Vwa8 G T 14: 79,162,694 (GRCm39) probably benign Het
Wdr19 G T 5: 65,398,503 (GRCm39) probably benign Het
Wnt2b A T 3: 104,861,933 (GRCm39) probably benign Het
Xirp2 A G 2: 67,342,039 (GRCm39) R1427G possibly damaging Het
Ylpm1 T C 12: 85,087,560 (GRCm39) S1115P probably damaging Het
Zfp946 T A 17: 22,674,406 (GRCm39) C387S 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
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'- AGTCACACAGAGCTGTTGTAC -3'
(R):5'- TCAAGTCAGTTTTGCTATCACCTG -3'

Sequencing Primer
(F):5'- GTACTTACTTGCAGAAGTGTCCCATG -3'
(R):5'- AGTCAGTTTTGCTATCACCTGTTATC -3'
Posted On 2014-08-25