Incidental Mutation 'R7859:Tpo'
ID 607374
Institutional Source Beutler Lab
Gene Symbol Tpo
Ensembl Gene ENSMUSG00000020673
Gene Name thyroid peroxidase
Synonyms
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 30104658-30182623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30150573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 436 (I436F)
Ref Sequence ENSEMBL: ENSMUSP00000021005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021005]
AlphaFold P35419
Predicted Effect probably damaging
Transcript: ENSMUST00000021005
AA Change: I436F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: I436F

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:An_peroxidase 145 697 4.2e-180 PFAM
CCP 730 782 1.26e-7 SMART
EGF_CA 784 827 3.51e-10 SMART
transmembrane domain 837 859 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a membrane-bound glycoprotein. The encoded enzyme plays a central role in thyroid gland function. The enzyme functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mice with homozygous missense mutations in this gene exhibit hypothyroid dwarfism and hearing impairment. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Tpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Tpo APN 12 30,134,619 (GRCm39) missense probably damaging 1.00
IGL00694:Tpo APN 12 30,155,993 (GRCm39) missense probably damaging 0.98
IGL01660:Tpo APN 12 30,169,399 (GRCm39) splice site probably benign
IGL01939:Tpo APN 12 30,134,646 (GRCm39) missense possibly damaging 0.83
IGL02624:Tpo APN 12 30,150,413 (GRCm39) missense probably benign 0.40
IGL03268:Tpo APN 12 30,144,964 (GRCm39) missense possibly damaging 0.82
IGL03330:Tpo APN 12 30,153,500 (GRCm39) missense probably damaging 0.97
IGL03138:Tpo UTSW 12 30,124,170 (GRCm39) missense probably benign 0.00
R0025:Tpo UTSW 12 30,150,389 (GRCm39) missense probably benign 0.03
R0025:Tpo UTSW 12 30,150,389 (GRCm39) missense probably benign 0.03
R0076:Tpo UTSW 12 30,154,022 (GRCm39) missense probably damaging 1.00
R0472:Tpo UTSW 12 30,150,485 (GRCm39) missense probably benign 0.03
R1389:Tpo UTSW 12 30,153,109 (GRCm39) missense probably damaging 0.98
R1493:Tpo UTSW 12 30,181,808 (GRCm39) missense possibly damaging 0.78
R1526:Tpo UTSW 12 30,134,694 (GRCm39) missense probably damaging 0.99
R1674:Tpo UTSW 12 30,150,567 (GRCm39) missense probably benign 0.16
R1689:Tpo UTSW 12 30,148,245 (GRCm39) missense probably damaging 1.00
R1986:Tpo UTSW 12 30,169,465 (GRCm39) missense probably damaging 1.00
R2381:Tpo UTSW 12 30,181,826 (GRCm39) missense possibly damaging 0.67
R2484:Tpo UTSW 12 30,153,968 (GRCm39) missense probably benign 0.12
R2902:Tpo UTSW 12 30,169,448 (GRCm39) missense possibly damaging 0.91
R4105:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4106:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4107:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4108:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4109:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4374:Tpo UTSW 12 30,153,151 (GRCm39) missense possibly damaging 0.50
R4425:Tpo UTSW 12 30,154,015 (GRCm39) missense probably damaging 1.00
R4600:Tpo UTSW 12 30,148,228 (GRCm39) missense probably benign 0.32
R4668:Tpo UTSW 12 30,153,289 (GRCm39) missense probably benign 0.03
R4758:Tpo UTSW 12 30,125,870 (GRCm39) missense probably damaging 1.00
R4838:Tpo UTSW 12 30,142,633 (GRCm39) missense probably damaging 1.00
R4869:Tpo UTSW 12 30,153,364 (GRCm39) missense probably benign 0.00
R5163:Tpo UTSW 12 30,155,979 (GRCm39) missense probably benign 0.00
R5223:Tpo UTSW 12 30,142,589 (GRCm39) missense probably damaging 0.99
R5367:Tpo UTSW 12 30,153,289 (GRCm39) missense probably damaging 1.00
R5658:Tpo UTSW 12 30,105,137 (GRCm39) missense possibly damaging 0.95
R5660:Tpo UTSW 12 30,150,495 (GRCm39) missense possibly damaging 0.92
R5671:Tpo UTSW 12 30,169,490 (GRCm39) missense probably benign 0.00
R6019:Tpo UTSW 12 30,144,980 (GRCm39) missense possibly damaging 0.94
R6074:Tpo UTSW 12 30,128,186 (GRCm39) missense probably benign 0.15
R6181:Tpo UTSW 12 30,181,884 (GRCm39) missense probably benign 0.37
R6321:Tpo UTSW 12 30,153,107 (GRCm39) missense probably damaging 1.00
R6433:Tpo UTSW 12 30,134,753 (GRCm39) missense probably benign
R7206:Tpo UTSW 12 30,153,133 (GRCm39) missense possibly damaging 0.76
R7234:Tpo UTSW 12 30,142,685 (GRCm39) missense probably benign 0.00
R7473:Tpo UTSW 12 30,142,589 (GRCm39) missense probably benign 0.15
R7571:Tpo UTSW 12 30,169,431 (GRCm39) missense probably benign 0.00
R7709:Tpo UTSW 12 30,181,859 (GRCm39) missense possibly damaging 0.62
R7844:Tpo UTSW 12 30,150,404 (GRCm39) missense probably damaging 1.00
R7883:Tpo UTSW 12 30,153,169 (GRCm39) missense probably damaging 1.00
R8138:Tpo UTSW 12 30,124,103 (GRCm39) missense probably benign 0.00
R8171:Tpo UTSW 12 30,154,045 (GRCm39) missense probably damaging 1.00
R8726:Tpo UTSW 12 30,105,137 (GRCm39) missense possibly damaging 0.95
R8877:Tpo UTSW 12 30,142,738 (GRCm39) missense probably damaging 0.99
R9400:Tpo UTSW 12 30,169,441 (GRCm39) missense possibly damaging 0.94
R9649:Tpo UTSW 12 30,125,875 (GRCm39) missense probably damaging 1.00
X0050:Tpo UTSW 12 30,128,093 (GRCm39) missense probably damaging 1.00
Z1088:Tpo UTSW 12 30,144,781 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTGCTCCTGGAAGTCAG -3'
(R):5'- GATGGGTATGTCCTTTCCCATAC -3'

Sequencing Primer
(F):5'- GAAGTCAGTGTTTAGCCGTCTCAC -3'
(R):5'- CATACTTCTGCCTGAGTCTGTGG -3'
Posted On 2019-12-20