Incidental Mutation 'R1969:Thada'
ID 219581
Institutional Source Beutler Lab
Gene Symbol Thada
Ensembl Gene ENSMUSG00000024251
Gene Name thyroid adenoma associated
Synonyms
MMRRC Submission 039982-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1969 (G1)
Quality Score 225
Status Not 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: 94.6%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T C 19: 21,575,609 (GRCm39) probably benign Het
Apoh G A 11: 108,298,288 (GRCm39) R196Q probably benign Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
B4galnt4 T C 7: 140,644,761 (GRCm39) F194L probably benign Het
BC034090 A T 1: 155,100,972 (GRCm39) L431M possibly damaging Het
Bdh2 G T 3: 134,994,040 (GRCm39) A31S probably damaging Het
Brd10 C T 19: 29,694,075 (GRCm39) S1873N possibly damaging Het
Cacna1s T C 1: 136,046,833 (GRCm39) S1821P probably benign Het
Caskin1 A T 17: 24,725,824 (GRCm39) Q1370L possibly damaging Het
Ccdc83 T A 7: 89,893,362 (GRCm39) S132C probably damaging Het
Cdk15 A T 1: 59,370,110 (GRCm39) H384L probably damaging Het
Col24a1 T C 3: 145,020,691 (GRCm39) I354T probably benign Het
Coro7 T C 16: 4,451,620 (GRCm39) I451V probably benign Het
Ctnna2 T C 6: 77,735,483 (GRCm39) E65G probably damaging Het
Ctsll3 A T 13: 60,948,162 (GRCm39) W172R probably benign Het
D630045J12Rik T C 6: 38,145,078 (GRCm39) D1316G probably damaging Het
Ddx19b C T 8: 111,734,890 (GRCm39) A493T probably benign Het
Ddx4 C T 13: 112,736,547 (GRCm39) V608I probably damaging Het
Ddx4 T A 13: 112,757,276 (GRCm39) H348L probably damaging 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
Dok7 A G 5: 35,234,610 (GRCm39) probably null Het
Dpf3 T A 12: 83,371,809 (GRCm39) probably null Het
Efcab3 A G 11: 104,637,090 (GRCm39) I988M probably damaging Het
Elfn1 G C 5: 139,958,604 (GRCm39) R536P probably damaging Het
Eml6 A G 11: 29,783,075 (GRCm39) V602A probably benign Het
Enpp2 T C 15: 54,746,378 (GRCm39) D296G probably damaging Het
Evi5 A T 5: 107,896,230 (GRCm39) F738I probably benign Het
Eya2 T C 2: 165,558,039 (GRCm39) S212P probably benign Het
Fam83a T C 15: 57,849,498 (GRCm39) L14P probably damaging Het
Fanca A T 8: 124,014,803 (GRCm39) M735K probably benign Het
Fancm T A 12: 65,148,466 (GRCm39) S694T probably benign Het
Fibcd1 G A 2: 31,706,673 (GRCm39) T386I probably damaging Het
Foxd4 A G 19: 24,877,178 (GRCm39) S341P probably benign Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Fryl A T 5: 73,255,609 (GRCm39) S807R probably benign Het
Fscb T C 12: 64,520,008 (GRCm39) E486G unknown Het
Galnt17 A G 5: 131,179,782 (GRCm39) S122P probably benign Het
Ghitm A G 14: 36,853,586 (GRCm39) F85L probably benign Het
Ghrh C A 2: 157,175,386 (GRCm39) V32L probably benign Het
Gli2 C T 1: 118,765,430 (GRCm39) R907H probably benign Het
Gm28042 A G 2: 119,872,096 (GRCm39) *1015W probably null Het
Gpr179 T C 11: 97,228,784 (GRCm39) T1124A probably benign Het
Grid2 C A 6: 63,885,902 (GRCm39) C99* probably null Het
Grin1 A T 2: 25,187,927 (GRCm39) M523K probably benign Het
Gucy2g T C 19: 55,211,328 (GRCm39) Y634C possibly damaging Het
Gucy2g T G 19: 55,221,485 (GRCm39) T339P probably benign Het
Haus6 A T 4: 86,522,483 (GRCm39) L116H probably damaging Het
Hey1 T C 3: 8,731,879 (GRCm39) T18A probably benign Het
Hipk3 T C 2: 104,264,186 (GRCm39) N792D probably damaging Het
Il19 A T 1: 130,866,893 (GRCm39) L29Q probably damaging Het
Il21r A G 7: 125,228,144 (GRCm39) Q205R probably damaging Het
Kcnip2 T C 19: 45,782,122 (GRCm39) D169G probably null Het
Kctd18 T C 1: 58,006,779 (GRCm39) I24V 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
Lrba A G 3: 86,515,696 (GRCm39) K2166E probably damaging Het
Lrrn2 T C 1: 132,866,972 (GRCm39) V679A probably benign Het
Lyst G A 13: 13,904,929 (GRCm39) R3202H probably damaging Het
Micall2 A G 5: 139,721,885 (GRCm39) C11R probably damaging Het
Morc2b T G 17: 33,356,065 (GRCm39) Q569P probably benign Het
Mtrf1 A G 14: 79,639,111 (GRCm39) E81G probably damaging Het
Myh2 G T 11: 67,080,004 (GRCm39) S1099I possibly damaging Het
Nap1l1 T A 10: 111,326,914 (GRCm39) D158E probably benign Het
Nckap5l T A 15: 99,320,699 (GRCm39) T1285S probably damaging Het
Nsrp1 A T 11: 76,936,612 (GRCm39) M528K probably damaging Het
Numa1 C T 7: 101,658,529 (GRCm39) A1605V probably damaging Het
Nutm2 T C 13: 50,627,878 (GRCm39) L453P probably damaging Het
Ofd1 T C X: 165,210,210 (GRCm39) Y205C probably benign Het
Or2ag12 T A 7: 106,276,877 (GRCm39) N272I probably damaging Het
Or2n1c A G 17: 38,519,355 (GRCm39) Y73C probably damaging Het
Or4c125 T A 2: 89,170,640 (GRCm39) N2I probably damaging Het
Or52k2 A T 7: 102,253,777 (GRCm39) D72V probably damaging Het
Or7a40 T A 16: 16,491,447 (GRCm39) M133L probably benign Het
Patl1 T C 19: 11,898,782 (GRCm39) L159P probably benign Het
Paxip1 G A 5: 27,949,134 (GRCm39) T1045I probably damaging Het
Phaf1 T A 8: 105,973,132 (GRCm39) D247E possibly damaging Het
Pik3ca A G 3: 32,505,903 (GRCm39) probably null Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Plec C T 15: 76,073,372 (GRCm39) R319H probably damaging Het
Pnkd G A 1: 74,391,008 (GRCm39) G334D probably damaging Het
Prss50 A G 9: 110,691,449 (GRCm39) Y251C probably damaging Het
Rab11b A T 17: 33,979,209 (GRCm39) Y10N probably damaging Het
Rfc1 G A 5: 65,476,867 (GRCm39) R4W probably damaging Het
Rgs19 A T 2: 181,331,276 (GRCm39) F119Y probably damaging Het
Safb A G 17: 56,912,821 (GRCm39) H883R probably benign Het
Serpine1 G A 5: 137,096,601 (GRCm39) Q227* probably null Het
Slc25a13 A G 6: 6,096,668 (GRCm39) probably null Het
Slc6a18 T A 13: 73,812,308 (GRCm39) T502S possibly damaging Het
Sox4 T C 13: 29,136,631 (GRCm39) D125G probably damaging Het
Spata31d1e T C 13: 59,890,599 (GRCm39) D407G probably damaging Het
Stag3 C T 5: 138,298,400 (GRCm39) T731I probably damaging Het
Tmem245 C A 4: 56,937,964 (GRCm39) V195F probably benign Het
Tnxb A G 17: 34,898,055 (GRCm39) H901R probably benign Het
Trim39 A T 17: 36,579,645 (GRCm39) D103E probably benign Het
Ttn A T 2: 76,562,304 (GRCm39) V28847E probably damaging Het
Tubb1 A T 2: 174,297,484 (GRCm39) D31V possibly damaging Het
Ush1g A G 11: 115,209,280 (GRCm39) S305P probably damaging Het
Vmn1r191 A T 13: 22,362,952 (GRCm39) N267K possibly damaging Het
Vmn1r59 A T 7: 5,457,038 (GRCm39) Y241N probably damaging Het
Vmn2r49 T C 7: 9,720,235 (GRCm39) N419D probably damaging Het
Vps35 T C 8: 86,005,623 (GRCm39) D326G possibly damaging Het
Xdh A G 17: 74,199,746 (GRCm39) S1187P possibly damaging Het
Xpc A C 6: 91,478,007 (GRCm39) probably null Het
Zfp273 T C 13: 67,973,282 (GRCm39) Y104H 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
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'- GAAGTCACACAGAGCTGTTGTAC -3'
(R):5'- TCAAGTCAGTTTTGCTATCACCTG -3'

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