Incidental Mutation 'R0076:Tpo'
| ID |
16466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpo
|
| Ensembl Gene |
ENSMUSG00000020673 |
| Gene Name |
thyroid peroxidase |
| Synonyms |
|
| MMRRC Submission |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30154022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 228
(G228R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021005
AA Change: G228R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: G228R
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.9167 |
| Coding Region Coverage |
- 1x: 89.9%
- 3x: 87.5%
- 10x: 81.6%
- 20x: 72.8%
|
| Validation Efficiency |
92% (83/90) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,972,908 (GRCm39) |
|
probably benign |
Het |
| Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,569,523 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
| Arhgef38 |
T |
A |
3: 132,866,507 (GRCm39) |
H210L |
possibly damaging |
Het |
| Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
| Cask |
A |
G |
X: 13,544,513 (GRCm39) |
|
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
| Cd93 |
T |
C |
2: 148,284,056 (GRCm39) |
D430G |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,965,706 (GRCm39) |
|
probably benign |
Het |
| Cerkl |
A |
T |
2: 79,173,633 (GRCm39) |
S259T |
possibly damaging |
Het |
| Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
| Cog8 |
T |
C |
8: 107,780,765 (GRCm39) |
I164M |
possibly damaging |
Het |
| Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
| Dcc |
G |
A |
18: 71,454,117 (GRCm39) |
Q1241* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
| Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,680,721 (GRCm39) |
|
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 140,595,920 (GRCm39) |
R124S |
possibly damaging |
Het |
| Il17rd |
T |
A |
14: 26,816,811 (GRCm39) |
L172Q |
probably damaging |
Het |
| Il4 |
A |
T |
11: 53,504,741 (GRCm39) |
L13Q |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,735 (GRCm39) |
M516T |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
| Mark1-ps1 |
T |
A |
17: 54,254,905 (GRCm39) |
|
noncoding transcript |
Het |
| Mndal |
G |
T |
1: 173,702,013 (GRCm39) |
C96* |
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,335,340 (GRCm39) |
S1365P |
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,376,268 (GRCm39) |
|
probably benign |
Het |
| Mthfsd |
C |
A |
8: 121,825,478 (GRCm39) |
V270F |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,374,337 (GRCm39) |
V555D |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,611,412 (GRCm39) |
V124A |
probably damaging |
Het |
| Pla2g10 |
T |
A |
16: 13,533,382 (GRCm39) |
Y131F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,075,614 (GRCm39) |
|
probably benign |
Het |
| Polr2b |
T |
A |
5: 77,474,408 (GRCm39) |
V415E |
possibly damaging |
Het |
| Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
| Ptprd |
T |
C |
4: 75,865,276 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,544,381 (GRCm39) |
V370A |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,334,708 (GRCm39) |
Y254* |
probably null |
Het |
| Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,553,722 (GRCm39) |
T580A |
probably benign |
Het |
| Tpx2 |
T |
C |
2: 152,735,603 (GRCm39) |
F744L |
probably damaging |
Het |
| Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
G |
10: 130,230,062 (GRCm39) |
S17P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,891,264 (GRCm39) |
|
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,818,698 (GRCm39) |
S851R |
probably benign |
Het |
| Zfp623 |
G |
A |
15: 75,819,058 (GRCm39) |
E5K |
probably benign |
Het |
|
| Other mutations in Tpo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R7859:Tpo
|
UTSW |
12 |
30,150,573 (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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation