Incidental Mutation 'R4786:Thada'
ID 367136
Institutional Source Beutler Lab
Gene Symbol Thada
Ensembl Gene ENSMUSG00000024251
Gene Name thyroid adenoma associated
Synonyms
MMRRC Submission 041995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4786 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 84497504-84773633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84766283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 41 (H41L)
Ref Sequence ENSEMBL: ENSMUSP00000041701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047524]
AlphaFold A8C756
Predicted Effect possibly damaging
Transcript: ENSMUST00000047524
AA Change: H41L

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251
AA Change: H41L

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,106,321 (GRCm39) I134N possibly damaging Het
Acvr1c T C 2: 58,170,366 (GRCm39) Y414C probably damaging Het
Adam32 A C 8: 25,353,509 (GRCm39) S693R probably damaging Het
Aldh2 A T 5: 121,710,887 (GRCm39) F314Y probably benign Het
Anks1 A G 17: 28,271,704 (GRCm39) D874G possibly damaging Het
Ap4b1 T A 3: 103,726,120 (GRCm39) V372E probably benign Het
Aqp12 G A 1: 92,934,177 (GRCm39) C18Y probably damaging Het
Arap1 T A 7: 101,034,212 (GRCm39) I218N possibly damaging Het
Arhgap42 C A 9: 9,238,703 (GRCm39) E28* probably null Het
Asb5 G A 8: 55,038,874 (GRCm39) E247K probably benign Het
Atg9b T C 5: 24,591,087 (GRCm39) D781G possibly damaging Het
Atxn10 A G 15: 85,271,344 (GRCm39) H294R probably benign Het
Bod1l G T 5: 41,976,781 (GRCm39) T1511K probably benign Het
Btnl2 A T 17: 34,582,322 (GRCm39) N296I probably damaging Het
Camta1 A T 4: 151,374,496 (GRCm39) L168H probably damaging Het
Cant1 A T 11: 118,299,665 (GRCm39) V265E possibly damaging Het
Ccdc157 T C 11: 4,101,861 (GRCm39) D20G probably damaging Het
Cd209c T G 8: 3,995,698 (GRCm39) T35P possibly damaging Het
Cdc20b G A 13: 113,215,268 (GRCm39) V279M probably damaging Het
Cdh18 T A 15: 23,410,873 (GRCm39) W453R probably null Het
Cdh24 A G 14: 54,875,007 (GRCm39) S333P possibly damaging Het
Ceacam11 T C 7: 17,706,239 (GRCm39) probably null Het
Ciz1 C T 2: 32,267,539 (GRCm39) P150L probably damaging Het
Crip3 C A 17: 46,741,968 (GRCm39) Q152K possibly damaging Het
Dars2 G A 1: 160,888,330 (GRCm39) R197W probably damaging Het
Dctn4 A G 18: 60,688,267 (GRCm39) D394G probably damaging Het
Dido1 T C 2: 180,312,664 (GRCm39) Y1077C possibly damaging Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egln3 A T 12: 54,232,367 (GRCm39) I146N probably damaging Het
Eif2ak3 C T 6: 70,869,602 (GRCm39) T763M possibly damaging Het
Etfbkmt A T 6: 149,048,744 (GRCm39) M1L probably benign Het
Fam171a1 A T 2: 3,226,615 (GRCm39) I583F probably damaging Het
Fbxo38 A C 18: 62,662,745 (GRCm39) L249W probably damaging Het
Fxyd5 T C 7: 30,740,907 (GRCm39) probably benign Het
Gabrr3 C A 16: 59,250,463 (GRCm39) T154K probably benign Het
Gm7233 C A 14: 43,038,347 (GRCm39) D90E probably benign Het
Gm8186 A G 17: 26,318,014 (GRCm39) V61A probably benign Het
Gnao1 A G 8: 94,670,931 (GRCm39) I137V probably benign Het
Gnptab A G 10: 88,272,044 (GRCm39) M945V probably damaging Het
Gpsm1 G A 2: 26,212,493 (GRCm39) A78T probably benign Het
Gtf2b T C 3: 142,487,230 (GRCm39) L222P probably damaging Het
Hnrnpf A G 6: 117,900,857 (GRCm39) Y47C probably damaging Het
Itga6 A G 2: 71,669,034 (GRCm39) N608S possibly damaging Het
Kdm2b T C 5: 123,018,917 (GRCm39) probably null Het
Krit1 T A 5: 3,862,467 (GRCm39) H207Q possibly damaging Het
Ky A G 9: 102,419,186 (GRCm39) N398D probably benign Het
Lama1 T A 17: 68,080,854 (GRCm39) V1294E possibly damaging Het
Lef1 C T 3: 130,905,173 (GRCm39) T18I probably damaging Het
Lrp2 T C 2: 69,368,300 (GRCm39) N178S probably damaging Het
Lrrc36 A G 8: 106,181,910 (GRCm39) T525A probably benign Het
Map3k8 A T 18: 4,340,647 (GRCm39) C222* probably null Het
Mapre2 G C 18: 24,011,016 (GRCm39) S199T probably benign Het
Mcm3ap A G 10: 76,324,300 (GRCm39) N911S probably benign Het
Mroh4 G T 15: 74,482,083 (GRCm39) H722Q probably benign Het
Muc21 A T 17: 35,930,221 (GRCm39) probably benign Het
Myo5b A C 18: 74,828,451 (GRCm39) Y701S probably benign Het
Myt1l G T 12: 29,861,457 (GRCm39) V80L unknown Het
Ncoa7 C A 10: 30,531,638 (GRCm39) V24L probably benign Het
Nlrp10 A T 7: 108,524,445 (GRCm39) V345D probably damaging Het
Nmral1 C A 16: 4,534,288 (GRCm39) G51V probably damaging Het
Npc1 A G 18: 12,332,554 (GRCm39) I797T probably benign Het
Or4x6 A T 2: 89,949,351 (GRCm39) I197N possibly damaging Het
Or8g22 T A 9: 38,958,783 (GRCm39) R22* probably null Het
Or8g34 A T 9: 39,373,137 (GRCm39) I134L probably benign Het
Pclo A T 5: 14,773,281 (GRCm39) I4419F unknown Het
Phf3 C A 1: 30,855,638 (GRCm39) E983* probably null Het
Pitpnm2 A T 5: 124,259,806 (GRCm39) Y1149* probably null Het
Sdc3 A T 4: 130,550,079 (GRCm39) T430S probably damaging Het
Sema3f A G 9: 107,559,881 (GRCm39) V671A probably benign Het
Sigirr T G 7: 140,671,346 (GRCm39) S379R probably benign Het
Slc25a23 T A 17: 57,354,326 (GRCm39) N360I possibly damaging Het
Slco6c1 A T 1: 97,015,720 (GRCm39) M357K probably benign Het
Sox14 C A 9: 99,757,018 (GRCm39) M240I probably benign Het
Stradb A T 1: 59,030,367 (GRCm39) probably benign Het
Szt2 A T 4: 118,256,259 (GRCm39) M200K probably benign Het
Tef T C 15: 81,699,453 (GRCm39) S85P probably benign Het
Tinagl1 A G 4: 130,067,724 (GRCm39) F90S probably benign Het
Tnfaip1 G A 11: 78,421,045 (GRCm39) T5I possibly damaging Het
Tnfrsf23 A T 7: 143,233,801 (GRCm39) V59D probably damaging Het
Tnpo3 A G 6: 29,578,541 (GRCm39) V311A probably benign Het
Trak1 T A 9: 121,301,560 (GRCm39) M772K probably benign Het
Ubash3a A G 17: 31,436,938 (GRCm39) D185G probably benign Het
Vmn2r120 T C 17: 57,829,048 (GRCm39) T516A probably benign Het
Wdr4 A C 17: 31,728,785 (GRCm39) L130R probably damaging Het
Zfp12 T C 5: 143,231,257 (GRCm39) I528T probably damaging Het
Zfp607a T C 7: 27,578,838 (GRCm39) L636P 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
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'- CTATTGCTGCTCTGAATAAAAGGAC -3'
(R):5'- TTCACAGCAGTGCAGTGCAG -3'

Sequencing Primer
(F):5'- CAACCAAACCTGTCAGTT -3'
(R):5'- ATGTGCTTGCCCTGACACAG -3'
Posted On 2015-12-29