Incidental Mutation 'IGL02738:Thra'
ID305728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thra
Ensembl Gene ENSMUSG00000058756
Gene Namethyroid hormone receptor alpha
SynonymsTR alpha 1, Thra2, Thra1, Rvr, TR alpha 2, c-erbAalpha, 6430529J03Rik, Erba, Nr1a1, T3Ralpha, T3R[a]
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.859) question?
Stock #IGL02738
Quality Score
Status
Chromosome11
Chromosomal Location98740638-98769006 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98764359 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 355 (H355L)
Ref Sequence ENSEMBL: ENSMUSP00000099428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064187] [ENSMUST00000064941] [ENSMUST00000103139] [ENSMUST00000124072]
Predicted Effect probably benign
Transcript: ENSMUST00000064187
AA Change: H355L

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068281
Gene: ENSMUSG00000058756
AA Change: H355L

DomainStartEndE-ValueType
ZnF_C4 50 123 3.09e-36 SMART
HOLI 220 378 1.43e-31 SMART
low complexity region 461 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064941
SMART Domains Protein: ENSMUSP00000069505
Gene: ENSMUSG00000020889

DomainStartEndE-ValueType
low complexity region 14 34 N/A INTRINSIC
low complexity region 70 94 N/A INTRINSIC
ZnF_C4 130 202 5.54e-38 SMART
low complexity region 240 263 N/A INTRINSIC
PDB:3N00|A 282 361 2e-21 PDB
HOLI 442 600 4.2e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103139
AA Change: H355L

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099428
Gene: ENSMUSG00000058756
AA Change: H355L

DomainStartEndE-ValueType
ZnF_C4 50 123 3.09e-36 SMART
HOLI 220 378 7.26e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124072
AA Change: H355L

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115323
Gene: ENSMUSG00000058756
AA Change: H355L

DomainStartEndE-ValueType
ZnF_C4 50 123 3.09e-36 SMART
HOLI 220 378 2.36e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139220
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is one of several nuclear hormone receptors that bind thyroid hormones such as triiodothyronine and thyroxine with high affinity. The encoded protein is a transcription factor that can activate or repress transcription. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations in this gene result in diverse phenotypes depending on the location and severity of the mutation. Observed phenotypes may include alterations in thyroid physiology, intestinal remodeling, cerebellum development, bone growth, cardiac function, thermogenesis, and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,624,872 probably benign Het
Akr1c21 A T 13: 4,580,301 N198Y probably damaging Het
Anapc11 A T 11: 120,599,276 K6I probably benign Het
Angel1 G A 12: 86,705,286 L554F probably benign Het
Arhgap11a A T 2: 113,832,975 *988K probably null Het
Arnt T A 3: 95,495,320 probably null Het
Atp1a3 T A 7: 24,990,476 D519V possibly damaging Het
Bdp1 C A 13: 100,051,353 A1575S probably benign Het
Bglap G A 3: 88,384,408 T3I unknown Het
Brca2 C T 5: 150,567,035 P3054L probably damaging Het
Btn2a2 C A 13: 23,478,806 E316* probably null Het
C1qtnf9 C T 14: 60,779,939 T306I probably benign Het
Caprin2 T C 6: 148,842,862 T1022A probably damaging Het
Cd109 T C 9: 78,691,299 Y940H probably damaging Het
Cd300ld A G 11: 114,984,250 L186S probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A T 2: 160,965,698 S1865R probably benign Het
Chrna2 T C 14: 66,149,440 V345A probably benign Het
Dnah1 T G 14: 31,292,640 E1756A probably benign Het
Dnah3 C T 7: 119,965,497 A2637T probably benign Het
Ern2 A G 7: 122,182,899 F80S probably damaging Het
Ero1lb A G 13: 12,604,433 I439V possibly damaging Het
Eva1a T G 6: 82,071,230 S30A probably benign Het
Fam71d T A 12: 78,734,215 probably benign Het
Fer1l4 A G 2: 156,045,728 L516P probably benign Het
Hexim2 T C 11: 103,138,277 S52P probably damaging Het
Hoxb9 A T 11: 96,274,728 M208L possibly damaging Het
Lbr A G 1: 181,832,213 V139A probably benign Het
Lcn10 G A 2: 25,684,020 probably benign Het
Letm2 A G 8: 25,586,773 I271T probably damaging Het
Lrrc34 T C 3: 30,631,292 S303G possibly damaging Het
Matn2 C A 15: 34,388,739 A325D probably benign Het
Mboat4 T C 8: 34,115,104 L4P probably damaging Het
Mmp1a T A 9: 7,464,301 probably benign Het
Naip2 T A 13: 100,189,177 R74S probably benign Het
Neb G T 2: 52,243,850 Q3374K probably damaging Het
Nup210l A G 3: 90,136,850 E486G possibly damaging Het
Olfr1024 A G 2: 85,904,949 V35A probably benign Het
Olfr1301 A C 2: 111,754,354 Y35S probably damaging Het
Olfr142 A G 2: 90,252,355 I211T possibly damaging Het
Olfr816 A T 10: 129,911,331 probably benign Het
Pde8a A C 7: 81,326,342 N677H probably damaging Het
Plag1 G A 4: 3,903,812 Q460* probably null Het
Podnl1 A G 8: 84,132,195 T550A probably benign Het
Ptpn22 A G 3: 103,874,066 probably benign Het
Pycrl A T 15: 75,918,716 I98N probably damaging Het
Rtn4r A G 16: 18,151,188 Y160C probably damaging Het
Slc27a4 A G 2: 29,811,226 N343S probably benign Het
Slc2a4 A G 11: 69,946,114 Y43H probably damaging Het
Sorbs1 A T 19: 40,376,904 L145Q probably damaging Het
Speer2 A T 16: 69,861,712 S22T probably benign Het
Sugp2 G T 8: 70,243,799 G474V probably damaging Het
Syt3 C T 7: 44,386,023 S18L possibly damaging Het
Tacc1 T C 8: 25,201,143 E48G probably damaging Het
Tdrd6 A G 17: 43,620,446 V2083A probably benign Het
Tmem35b C T 4: 127,126,188 Q34* probably null Het
Unk G T 11: 116,056,191 G537V probably damaging Het
Usp32 T A 11: 85,083,806 D92V probably damaging Het
Vmn1r209 G T 13: 22,806,120 Y133* probably null Het
Vmn1r42 A G 6: 89,844,648 V313A possibly damaging Het
Vnn1 A G 10: 23,904,622 I503V probably benign Het
Vwa2 G A 19: 56,897,929 G143R possibly damaging Het
Other mutations in Thra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Thra APN 11 98762928 missense possibly damaging 0.90
IGL01544:Thra APN 11 98756928 missense possibly damaging 0.46
IGL02377:Thra APN 11 98761916 missense probably damaging 1.00
IGL03111:Thra APN 11 98761029 unclassified probably benign
California UTSW 11 98764308 missense probably damaging 0.97
Crissal UTSW 11 98762951 missense probably benign 0.20
R0033:Thra UTSW 11 98764352 missense probably benign 0.00
R0033:Thra UTSW 11 98764352 missense probably benign 0.00
R0959:Thra UTSW 11 98753629 missense possibly damaging 0.94
R1659:Thra UTSW 11 98756979 missense probably damaging 0.99
R1839:Thra UTSW 11 98756143 missense probably benign 0.01
R1859:Thra UTSW 11 98756151 missense probably damaging 0.98
R1935:Thra UTSW 11 98763073 splice site probably benign
R1956:Thra UTSW 11 98763741 missense probably benign 0.03
R4584:Thra UTSW 11 98764484 missense probably benign 0.42
R4782:Thra UTSW 11 98756164 missense probably benign 0.01
R5414:Thra UTSW 11 98760957 missense probably benign 0.34
R5790:Thra UTSW 11 98762951 missense probably benign 0.20
R5927:Thra UTSW 11 98763688 missense possibly damaging 0.56
R7207:Thra UTSW 11 98760976 missense probably damaging 1.00
R7234:Thra UTSW 11 98763718 missense probably damaging 1.00
R7307:Thra UTSW 11 98764308 missense probably damaging 0.97
R7825:Thra UTSW 11 98762948 missense probably benign 0.14
R7875:Thra UTSW 11 98768431 missense probably damaging 0.98
R7958:Thra UTSW 11 98768431 missense probably damaging 0.98
Z1177:Thra UTSW 11 98753481 start gained probably benign
Posted On2015-04-16