Incidental Mutation 'IGL01939:Tpo'
ID180780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpo
Ensembl Gene ENSMUSG00000020673
Gene Namethyroid peroxidase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.393) question?
Stock #IGL01939
Quality Score
Status
Chromosome12
Chromosomal Location30054659-30132624 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30084647 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 771 (T771A)
Ref Sequence ENSEMBL: ENSMUSP00000021005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021005]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021005
AA Change: T771A

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: T771A

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,992,132 D22Y probably damaging Het
Ak7 T C 12: 105,734,924 V242A probably benign Het
Cacna1b T C 2: 24,661,757 N1127S probably damaging Het
Cacnb2 A T 2: 14,971,569 H267L probably benign Het
Ces1b C T 8: 93,079,431 G61R probably damaging Het
Cgnl1 T A 9: 71,725,004 D355V probably damaging Het
Col24a1 T C 3: 145,315,244 S459P probably damaging Het
Crygd T C 1: 65,062,026 T137A probably benign Het
Dctn4 T A 18: 60,544,130 M174K probably benign Het
Evi5 A G 5: 107,816,924 probably benign Het
Fat2 T G 11: 55,283,980 D1969A probably benign Het
Fcrl5 A T 3: 87,446,299 E317V probably damaging Het
Foxf2 G T 13: 31,626,714 S212I probably damaging Het
Gm21759 T A 5: 8,180,685 probably benign Het
Gm5414 A G 15: 101,625,670 probably benign Het
Gm7275 T C 16: 48,073,583 noncoding transcript Het
Hspa9 T C 18: 34,938,708 E613G possibly damaging Het
Il1rl1 A G 1: 40,462,008 I515V possibly damaging Het
Ins1 G T 19: 52,264,735 A38S probably damaging Het
Klhl31 A G 9: 77,655,206 N418D probably benign Het
Magi3 T C 3: 104,054,462 K417E probably damaging Het
Msh4 A G 3: 153,857,589 Y823H probably damaging Het
Myo6 T A 9: 80,260,818 D421E probably damaging Het
Myom3 T C 4: 135,765,589 S150P possibly damaging Het
Nectin1 C T 9: 43,792,574 probably benign Het
Nkx1-2 A T 7: 132,599,474 I18N probably damaging Het
Olfr1006 T C 2: 85,674,941 D70G probably damaging Het
Olfr1193 A G 2: 88,678,733 T286A probably damaging Het
Olfr1467 A T 19: 13,365,443 I272F probably benign Het
Olfr952 A C 9: 39,426,338 H244Q probably damaging Het
Pde8b T C 13: 95,095,724 R237G probably damaging Het
Pp2d1 G A 17: 53,515,139 L300F probably damaging Het
Ptpn21 A T 12: 98,689,161 Y516N probably damaging Het
Ptprm T A 17: 67,063,163 probably benign Het
Rabggtb A G 3: 153,912,013 V16A probably damaging Het
Rangap1 A T 15: 81,720,663 C82S probably damaging Het
Rasal2 T C 1: 157,175,910 E393G probably damaging Het
Rasgrf1 A T 9: 89,974,836 E449V probably damaging Het
Rrp12 A T 19: 41,870,895 H1143Q probably damaging Het
Scap T C 9: 110,379,481 I530T probably benign Het
Sel1l T A 12: 91,816,247 Q482L probably damaging Het
Serpinb9b T C 13: 33,039,665 M280T probably damaging Het
Slc39a10 T A 1: 46,832,735 H348L probably benign Het
Slc7a2 T C 8: 40,914,083 L542P possibly damaging Het
Tas1r2 A T 4: 139,669,177 Q609L probably damaging Het
Tbc1d14 A T 5: 36,508,437 probably benign Het
Tfb2m A G 1: 179,537,697 probably null Het
Tpr G A 1: 150,413,745 R609H possibly damaging Het
Usp34 T A 11: 23,345,141 probably benign Het
Vmn1r193 G T 13: 22,219,723 S33* probably null Het
Vmn2r104 A C 17: 20,029,925 S695A probably damaging Het
Vmn2r24 A G 6: 123,787,445 D427G probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp362 A G 4: 128,787,053 S160P probably benign Het
Other mutations in Tpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Tpo APN 12 30084620 missense probably damaging 1.00
IGL00694:Tpo APN 12 30105994 missense probably damaging 0.98
IGL01660:Tpo APN 12 30119400 splice site probably benign
IGL02624:Tpo APN 12 30100414 missense probably benign 0.40
IGL03268:Tpo APN 12 30094965 missense possibly damaging 0.82
IGL03330:Tpo APN 12 30103501 missense probably damaging 0.97
IGL03138:Tpo UTSW 12 30074171 missense probably benign 0.00
R0025:Tpo UTSW 12 30100390 missense probably benign 0.03
R0025:Tpo UTSW 12 30100390 missense probably benign 0.03
R0076:Tpo UTSW 12 30104023 missense probably damaging 1.00
R0472:Tpo UTSW 12 30100486 missense probably benign 0.03
R1389:Tpo UTSW 12 30103110 missense probably damaging 0.98
R1493:Tpo UTSW 12 30131809 missense possibly damaging 0.78
R1526:Tpo UTSW 12 30084695 missense probably damaging 0.99
R1674:Tpo UTSW 12 30100568 missense probably benign 0.16
R1689:Tpo UTSW 12 30098246 missense probably damaging 1.00
R1986:Tpo UTSW 12 30119466 missense probably damaging 1.00
R2381:Tpo UTSW 12 30131827 missense possibly damaging 0.67
R2484:Tpo UTSW 12 30103969 missense probably benign 0.12
R2902:Tpo UTSW 12 30119449 missense possibly damaging 0.91
R4105:Tpo UTSW 12 30092586 missense probably damaging 0.98
R4106:Tpo UTSW 12 30092586 missense probably damaging 0.98
R4107:Tpo UTSW 12 30092586 missense probably damaging 0.98
R4108:Tpo UTSW 12 30092586 missense probably damaging 0.98
R4109:Tpo UTSW 12 30092586 missense probably damaging 0.98
R4374:Tpo UTSW 12 30103152 missense possibly damaging 0.50
R4425:Tpo UTSW 12 30104016 missense probably damaging 1.00
R4600:Tpo UTSW 12 30098229 missense probably benign 0.32
R4668:Tpo UTSW 12 30103290 missense probably benign 0.03
R4758:Tpo UTSW 12 30075871 missense probably damaging 1.00
R4838:Tpo UTSW 12 30092634 missense probably damaging 1.00
R4869:Tpo UTSW 12 30103365 missense probably benign 0.00
R5163:Tpo UTSW 12 30105980 missense probably benign 0.00
R5223:Tpo UTSW 12 30092590 missense probably damaging 0.99
R5367:Tpo UTSW 12 30103290 missense probably damaging 1.00
R5658:Tpo UTSW 12 30055138 missense possibly damaging 0.95
R5660:Tpo UTSW 12 30100496 missense possibly damaging 0.92
R5671:Tpo UTSW 12 30119491 missense probably benign 0.00
R6019:Tpo UTSW 12 30094981 missense possibly damaging 0.94
R6074:Tpo UTSW 12 30078187 missense probably benign 0.15
R6181:Tpo UTSW 12 30131885 missense probably benign 0.37
R6321:Tpo UTSW 12 30103108 missense probably damaging 1.00
R6433:Tpo UTSW 12 30084754 missense probably benign
R7206:Tpo UTSW 12 30103134 missense possibly damaging 0.76
R7234:Tpo UTSW 12 30092686 missense probably benign 0.00
R7473:Tpo UTSW 12 30092590 missense probably benign 0.15
R7571:Tpo UTSW 12 30119432 missense probably benign 0.00
R7709:Tpo UTSW 12 30131860 missense possibly damaging 0.62
R7844:Tpo UTSW 12 30100405 missense probably damaging 1.00
R7859:Tpo UTSW 12 30100574 missense probably damaging 1.00
R7883:Tpo UTSW 12 30103170 missense probably damaging 1.00
R8138:Tpo UTSW 12 30074104 missense probably benign 0.00
R8171:Tpo UTSW 12 30104046 missense probably damaging 1.00
X0050:Tpo UTSW 12 30078094 missense probably damaging 1.00
Z1088:Tpo UTSW 12 30094782 missense probably damaging 1.00
Posted On2014-05-07