Incidental Mutation 'R1789:Thada'
ID 201681
Institutional Source Beutler Lab
Gene Symbol Thada
Ensembl Gene ENSMUSG00000024251
Gene Name thyroid adenoma associated
Synonyms
MMRRC Submission 039820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1789 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 84190056-84466196 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84448034 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 243 (L243I)
Ref Sequence ENSEMBL: ENSMUSP00000041701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047524]
AlphaFold A8C756
Predicted Effect probably damaging
Transcript: ENSMUST00000047524
AA Change: L243I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: L243I

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
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
Abcc5 G A 16: 20,365,951 (GRCm38) P986L probably damaging Het
Acad10 A T 5: 121,631,393 (GRCm38) Y667N possibly damaging Het
Ahi1 G A 10: 20,963,115 (GRCm38) G121D probably benign Het
Ampd1 T A 3: 103,099,126 (GRCm38) I690N possibly damaging Het
Amy1 C A 3: 113,558,165 (GRCm38) W425L possibly damaging Het
Arhgap27 A T 11: 103,333,005 (GRCm38) V823E probably damaging Het
Arhgef17 A G 7: 100,929,870 (GRCm38) S624P probably damaging Het
Arid5b T C 10: 68,186,067 (GRCm38) H231R probably damaging Het
Aspscr1 C A 11: 120,688,560 (GRCm38) T78N probably damaging Het
Auts2 T A 5: 131,472,450 (GRCm38) T42S probably damaging Het
Ccdc171 A G 4: 83,554,808 (GRCm38) D158G probably damaging Het
Ces4a G A 8: 105,138,097 (GRCm38) G69S probably damaging Het
Cfap61 T C 2: 145,939,993 (GRCm38) probably null Het
Chrna5 T C 9: 55,004,651 (GRCm38) V245A possibly damaging Het
Cntnap5c G A 17: 58,013,921 (GRCm38) G163R probably damaging Het
Col5a2 A G 1: 45,378,305 (GRCm38) probably null Het
Col5a2 T C 1: 45,394,776 (GRCm38) Q759R probably damaging Het
Comp A G 8: 70,377,146 (GRCm38) D340G probably benign Het
Cyfip1 T A 7: 55,926,395 (GRCm38) D1104E probably damaging Het
Dnah11 A T 12: 118,038,780 (GRCm38) S308T probably damaging Het
Dnah5 A G 15: 28,270,426 (GRCm38) H958R probably benign Het
Elp3 A G 14: 65,547,919 (GRCm38) Y478H probably damaging Het
Fat3 T C 9: 16,376,985 (GRCm38) Y414C probably benign Het
Fbxo10 C A 4: 45,046,389 (GRCm38) A574S probably damaging Het
Fsip2 G T 2: 82,977,562 (GRCm38) L1408F probably benign Het
Fubp3 T C 2: 31,611,735 (GRCm38) V425A possibly damaging Het
Gm7168 A T 17: 13,949,584 (GRCm38) R404S probably benign Het
Gm8773 A T 5: 5,575,652 (GRCm38) Q116L possibly damaging Het
Gpd1 T G 15: 99,723,202 (GRCm38) F299C probably damaging Het
Gpr137 C T 19: 6,942,057 (GRCm38) probably benign Het
Grin3b T C 10: 79,973,408 (GRCm38) S331P probably benign Het
Grk3 T A 5: 112,941,718 (GRCm38) I281F probably damaging Het
Hoxb7 T A 11: 96,286,781 (GRCm38) S18R probably damaging Het
Igf1r C T 7: 68,214,933 (GRCm38) R1160* probably null Het
Itfg1 A G 8: 85,725,512 (GRCm38) probably null Het
Itgb8 T C 12: 119,202,455 (GRCm38) I114V probably benign Het
Kcnk1 A G 8: 126,025,384 (GRCm38) E243G possibly damaging Het
Kif27 A G 13: 58,344,008 (GRCm38) L439P probably damaging Het
Kif2c T A 4: 117,167,361 (GRCm38) Q279L probably benign Het
Kmt2d A T 15: 98,852,074 (GRCm38) probably benign Het
L3mbtl1 A G 2: 162,974,502 (GRCm38) T821A probably benign Het
Lrrc24 A T 15: 76,722,578 (GRCm38) M206K probably benign Het
Mamdc4 T G 2: 25,567,622 (GRCm38) K460Q possibly damaging Het
Maml2 C G 9: 13,697,345 (GRCm38) L30V probably damaging Het
Mc5r C G 18: 68,338,670 (GRCm38) probably null Het
Myo10 T G 15: 25,726,525 (GRCm38) probably null Het
Myo1e T A 9: 70,338,784 (GRCm38) L419Q probably damaging Het
Myo6 C A 9: 80,300,572 (GRCm38) H1115Q probably damaging Het
Myo7a A G 7: 98,107,095 (GRCm38) V10A probably damaging Het
Myoz2 C T 3: 123,026,127 (GRCm38) R61H probably damaging Het
Ncdn G A 4: 126,752,003 (GRCm38) R38C probably damaging Het
Nckap1 T A 2: 80,520,556 (GRCm38) T736S probably benign Het
Ncor2 G A 5: 125,019,890 (GRCm38) A2325V probably damaging Het
Nid2 T A 14: 19,752,431 (GRCm38) V140E possibly damaging Het
Nlrp9c C A 7: 26,380,490 (GRCm38) D704Y probably benign Het
Notch3 T A 17: 32,158,725 (GRCm38) S126C probably damaging Het
Olfr1128 A T 2: 87,544,983 (GRCm38) L187H probably damaging Het
Olfr130 T C 17: 38,067,948 (GRCm38) I259T probably damaging Het
Olfr215 A C 6: 116,582,697 (GRCm38) F83C probably damaging Het
Olfr484 A G 7: 108,124,915 (GRCm38) F116S probably benign Het
Olfr804 T C 10: 129,705,607 (GRCm38) M243T possibly damaging Het
Olfr818 A T 10: 129,945,582 (GRCm38) L160* probably null Het
Pdzd7 A G 19: 45,039,228 (GRCm38) I269T probably damaging Het
Phf3 A T 1: 30,806,206 (GRCm38) D1299E probably damaging Het
Pitx2 T A 3: 129,218,754 (GRCm38) Y271N probably damaging Het
Polk T C 13: 96,496,632 (GRCm38) E301G probably damaging Het
Prkdc C A 16: 15,739,524 (GRCm38) N2230K probably damaging Het
Prlr A G 15: 10,322,536 (GRCm38) E170G probably benign Het
Prss55 A G 14: 64,075,730 (GRCm38) I235T probably damaging Het
Psd3 T C 8: 67,960,565 (GRCm38) I724V probably benign Het
Rabep2 A G 7: 126,438,799 (GRCm38) T248A possibly damaging Het
Rbm26 T A 14: 105,117,073 (GRCm38) K949N probably benign Het
Rnf213 T A 11: 119,440,221 (GRCm38) D2085E probably damaging Het
Serpinb7 A T 1: 107,450,273 (GRCm38) H232L possibly damaging Het
Slu7 A G 11: 43,445,242 (GRCm38) Q484R probably benign Het
Smg1 A G 7: 118,145,798 (GRCm38) S3044P possibly damaging Het
Snrnp48 A G 13: 38,221,360 (GRCm38) D248G possibly damaging Het
Snrpc C A 17: 27,845,219 (GRCm38) P66Q unknown Het
Snrpn T A 7: 59,983,459 (GRCm38) probably benign Het
Spag17 T A 3: 99,939,356 (GRCm38) S65R possibly damaging Het
Srsf6 C A 2: 162,934,488 (GRCm38) probably benign Het
Stil T A 4: 115,041,782 (GRCm38) M1203K probably benign Het
Syt17 T C 7: 118,436,838 (GRCm38) T106A probably benign Het
Tbx15 C T 3: 99,352,246 (GRCm38) Q478* probably null Het
Tg A T 15: 66,737,548 (GRCm38) Q319L probably benign Het
Tnnt3 A G 7: 142,512,364 (GRCm38) R211G probably damaging Het
Togaram1 A T 12: 65,002,635 (GRCm38) Q1282L possibly damaging Het
Tpm3-rs7 T G 14: 113,314,947 (GRCm38) M91R probably damaging Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Ttll7 T G 3: 146,915,780 (GRCm38) L378R probably damaging Het
Tyw1 T G 5: 130,258,993 (GRCm38) I22R probably damaging Het
Ubr3 T C 2: 70,016,367 (GRCm38) S1645P possibly damaging Het
Ubr4 T C 4: 139,393,053 (GRCm38) L263P probably damaging Het
Unc13c T C 9: 73,756,339 (GRCm38) E1071G possibly damaging Het
Vmn2r44 G T 7: 8,380,123 (GRCm38) D157E possibly damaging Het
Vps16 C T 2: 130,443,600 (GRCm38) T821I probably benign Het
Washc4 T C 10: 83,579,525 (GRCm38) V793A possibly damaging Het
Wdr35 G T 12: 8,977,435 (GRCm38) probably null Het
Zfp277 A G 12: 40,364,085 (GRCm38) F254L probably benign Het
Other mutations in Thada
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Thada APN 17 84,444,218 (GRCm38) missense probably benign 0.01
IGL00902:Thada APN 17 84,447,976 (GRCm38) missense probably damaging 1.00
IGL01634:Thada APN 17 84,393,358 (GRCm38) critical splice donor site probably null
IGL01689:Thada APN 17 84,446,688 (GRCm38) missense possibly damaging 0.80
IGL01693:Thada APN 17 84,446,644 (GRCm38) missense probably benign
IGL01937:Thada APN 17 84,222,766 (GRCm38) missense probably benign 0.00
IGL01945:Thada APN 17 84,222,766 (GRCm38) missense probably benign 0.00
IGL02231:Thada APN 17 84,428,697 (GRCm38) missense probably damaging 1.00
IGL02951:Thada APN 17 84,444,028 (GRCm38) missense probably benign 0.16
IGL03167:Thada APN 17 84,458,849 (GRCm38) missense probably damaging 0.97
IGL03279:Thada APN 17 84,435,560 (GRCm38) missense probably benign 0.01
IGL03347:Thada APN 17 84,398,205 (GRCm38) missense probably damaging 1.00
H8562:Thada UTSW 17 84,446,544 (GRCm38) missense probably damaging 1.00
IGL03098:Thada UTSW 17 84,334,141 (GRCm38) missense possibly damaging 0.93
R0006:Thada UTSW 17 84,226,040 (GRCm38) missense probably benign 0.00
R0052:Thada UTSW 17 84,455,158 (GRCm38) missense probably damaging 0.99
R0052:Thada UTSW 17 84,455,158 (GRCm38) missense probably damaging 0.99
R0357:Thada UTSW 17 84,230,936 (GRCm38) missense probably damaging 1.00
R0388:Thada UTSW 17 84,231,096 (GRCm38) missense probably benign 0.00
R0543:Thada UTSW 17 84,423,163 (GRCm38) missense probably damaging 1.00
R0606:Thada UTSW 17 84,416,303 (GRCm38) missense possibly damaging 0.90
R0630:Thada UTSW 17 84,229,175 (GRCm38) missense probably damaging 1.00
R0664:Thada UTSW 17 84,336,829 (GRCm38) missense probably damaging 1.00
R0855:Thada UTSW 17 84,436,655 (GRCm38) missense probably damaging 1.00
R0972:Thada UTSW 17 84,429,062 (GRCm38) splice site probably benign
R1297:Thada UTSW 17 84,252,435 (GRCm38) splice site probably benign
R1465:Thada UTSW 17 84,436,676 (GRCm38) missense possibly damaging 0.92
R1465:Thada UTSW 17 84,436,676 (GRCm38) missense possibly damaging 0.92
R1490:Thada UTSW 17 84,446,601 (GRCm38) missense possibly damaging 0.68
R1789:Thada UTSW 17 84,448,033 (GRCm38) missense probably damaging 1.00
R1802:Thada UTSW 17 84,464,407 (GRCm38) missense probably benign 0.34
R1831:Thada UTSW 17 84,231,114 (GRCm38) missense probably damaging 0.97
R1834:Thada UTSW 17 84,226,004 (GRCm38) missense possibly damaging 0.53
R1881:Thada UTSW 17 84,436,702 (GRCm38) missense probably benign 0.19
R1925:Thada UTSW 17 84,444,499 (GRCm38) missense probably benign 0.05
R1969:Thada UTSW 17 84,310,042 (GRCm38) missense probably damaging 1.00
R1970:Thada UTSW 17 84,310,042 (GRCm38) missense probably damaging 1.00
R1971:Thada UTSW 17 84,310,042 (GRCm38) missense probably damaging 1.00
R2149:Thada UTSW 17 84,441,764 (GRCm38) missense probably damaging 1.00
R2191:Thada UTSW 17 84,446,521 (GRCm38) missense probably benign 0.00
R2571:Thada UTSW 17 84,454,640 (GRCm38) missense probably damaging 0.99
R3405:Thada UTSW 17 84,230,785 (GRCm38) splice site probably benign
R3406:Thada UTSW 17 84,230,785 (GRCm38) splice site probably benign
R3916:Thada UTSW 17 84,441,782 (GRCm38) missense possibly damaging 0.92
R4044:Thada UTSW 17 84,441,707 (GRCm38) missense probably benign 0.41
R4461:Thada UTSW 17 84,426,237 (GRCm38) missense probably damaging 1.00
R4662:Thada UTSW 17 84,435,650 (GRCm38) missense probably damaging 1.00
R4696:Thada UTSW 17 84,426,186 (GRCm38) missense possibly damaging 0.83
R4786:Thada UTSW 17 84,458,855 (GRCm38) missense possibly damaging 0.66
R4803:Thada UTSW 17 84,272,817 (GRCm38) missense probably damaging 0.96
R4835:Thada UTSW 17 84,441,104 (GRCm38) splice site probably null
R4872:Thada UTSW 17 84,446,599 (GRCm38) missense probably damaging 1.00
R4898:Thada UTSW 17 84,448,042 (GRCm38) splice site probably null
R4903:Thada UTSW 17 84,252,400 (GRCm38) missense possibly damaging 0.67
R4929:Thada UTSW 17 84,444,226 (GRCm38) missense probably benign 0.01
R4959:Thada UTSW 17 84,444,183 (GRCm38) missense probably damaging 1.00
R5071:Thada UTSW 17 84,386,532 (GRCm38) missense probably damaging 1.00
R5092:Thada UTSW 17 84,444,468 (GRCm38) missense probably damaging 0.97
R5398:Thada UTSW 17 84,426,186 (GRCm38) missense probably benign 0.03
R5480:Thada UTSW 17 84,432,254 (GRCm38) missense probably benign 0.00
R5552:Thada UTSW 17 84,429,130 (GRCm38) missense probably benign 0.03
R5575:Thada UTSW 17 84,416,399 (GRCm38) splice site probably null
R5623:Thada UTSW 17 84,191,983 (GRCm38) missense probably benign 0.00
R5688:Thada UTSW 17 84,451,727 (GRCm38) missense probably benign 0.00
R5704:Thada UTSW 17 84,230,901 (GRCm38) missense probably benign 0.01
R6008:Thada UTSW 17 84,436,634 (GRCm38) missense probably damaging 1.00
R6013:Thada UTSW 17 84,272,800 (GRCm38) missense probably benign 0.00
R6072:Thada UTSW 17 84,192,006 (GRCm38) missense possibly damaging 0.93
R6156:Thada UTSW 17 84,393,367 (GRCm38) missense probably damaging 0.98
R6243:Thada UTSW 17 84,436,602 (GRCm38) missense probably benign 0.01
R6449:Thada UTSW 17 84,429,173 (GRCm38) missense probably benign
R6453:Thada UTSW 17 84,416,323 (GRCm38) missense probably damaging 1.00
R6474:Thada UTSW 17 84,443,911 (GRCm38) missense possibly damaging 0.83
R6732:Thada UTSW 17 84,454,414 (GRCm38) splice site probably null
R6907:Thada UTSW 17 84,393,469 (GRCm38) missense probably damaging 1.00
R7117:Thada UTSW 17 84,230,786 (GRCm38) splice site probably null
R7167:Thada UTSW 17 84,230,963 (GRCm38) missense probably benign
R7221:Thada UTSW 17 84,464,366 (GRCm38) missense possibly damaging 0.46
R7470:Thada UTSW 17 84,226,041 (GRCm38) missense probably benign
R7753:Thada UTSW 17 84,252,390 (GRCm38) missense probably damaging 1.00
R7809:Thada UTSW 17 84,451,837 (GRCm38) missense possibly damaging 0.80
R7882:Thada UTSW 17 84,429,196 (GRCm38) missense possibly damaging 0.85
R7971:Thada UTSW 17 84,272,769 (GRCm38) missense possibly damaging 0.93
R8004:Thada UTSW 17 84,192,205 (GRCm38) missense probably benign
R8153:Thada UTSW 17 84,393,427 (GRCm38) missense possibly damaging 0.90
R8254:Thada UTSW 17 84,226,040 (GRCm38) missense probably benign 0.00
R8426:Thada UTSW 17 84,222,703 (GRCm38) missense probably benign 0.17
R8438:Thada UTSW 17 84,435,629 (GRCm38) missense probably damaging 1.00
R8670:Thada UTSW 17 84,432,346 (GRCm38) missense probably benign 0.16
R8679:Thada UTSW 17 84,229,209 (GRCm38) missense probably benign 0.28
R8952:Thada UTSW 17 84,429,096 (GRCm38) missense probably benign 0.01
R8983:Thada UTSW 17 84,231,087 (GRCm38) missense probably benign 0.00
R9009:Thada UTSW 17 84,451,775 (GRCm38) missense possibly damaging 0.54
R9050:Thada UTSW 17 84,429,201 (GRCm38) missense probably damaging 0.99
R9091:Thada UTSW 17 84,231,161 (GRCm38) missense probably damaging 0.96
R9225:Thada UTSW 17 84,441,744 (GRCm38) missense possibly damaging 0.90
R9251:Thada UTSW 17 84,231,136 (GRCm38) missense probably benign 0.00
R9270:Thada UTSW 17 84,231,161 (GRCm38) missense probably damaging 0.96
R9299:Thada UTSW 17 84,441,777 (GRCm38) missense probably benign 0.01
R9337:Thada UTSW 17 84,441,777 (GRCm38) missense probably benign 0.01
R9360:Thada UTSW 17 84,191,982 (GRCm38) missense probably benign
R9416:Thada UTSW 17 84,458,864 (GRCm38) nonsense probably null
R9484:Thada UTSW 17 84,429,191 (GRCm38) missense probably damaging 1.00
R9584:Thada UTSW 17 84,426,177 (GRCm38) missense probably benign
R9631:Thada UTSW 17 84,231,156 (GRCm38) missense probably benign 0.17
Z1176:Thada UTSW 17 84,444,430 (GRCm38) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TGTGCCCATACACACGCC -3'
(R):5'- GTGCCAGAGATGTAGATAGTAAGGT -3'

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