Incidental Mutation 'R5660:Tpo'
| ID |
444049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpo
|
| Ensembl Gene |
ENSMUSG00000020673 |
| Gene Name |
thyroid peroxidase |
| Synonyms |
|
| MMRRC Submission |
043173-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R5660 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30150495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 462
(N462Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021005
AA Change: N462Y
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: N462Y
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,757,828 (GRCm39) |
N1307S |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,274,539 (GRCm39) |
D41E |
possibly damaging |
Het |
| Adamts13 |
T |
C |
2: 26,886,761 (GRCm39) |
V966A |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,667,472 (GRCm39) |
D470V |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,901 (GRCm39) |
F261L |
probably damaging |
Het |
| Akap3 |
C |
T |
6: 126,842,254 (GRCm39) |
A291V |
probably damaging |
Het |
| Akr1c6 |
G |
A |
13: 4,499,053 (GRCm39) |
V214I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,255 (GRCm39) |
I238F |
possibly damaging |
Het |
| Atg2b |
A |
T |
12: 105,615,383 (GRCm39) |
Y1024* |
probably null |
Het |
| Cad |
T |
A |
5: 31,234,191 (GRCm39) |
D1956E |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,843,220 (GRCm39) |
I237N |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,542,337 (GRCm39) |
T180A |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,313,686 (GRCm39) |
N1303K |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,873,315 (GRCm39) |
S2227P |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,972,722 (GRCm39) |
M324K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,321,574 (GRCm39) |
K4363R |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,348,500 (GRCm39) |
Y238N |
probably benign |
Het |
| Fam83c |
G |
A |
2: 155,671,509 (GRCm39) |
A642V |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,175,002 (GRCm39) |
T1904S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,306,291 (GRCm39) |
N279S |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,397 (GRCm39) |
N374S |
probably benign |
Het |
| Gm14401 |
T |
A |
2: 176,778,224 (GRCm39) |
H103Q |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,126,048 (GRCm39) |
|
noncoding transcript |
Het |
| Helb |
G |
A |
10: 119,946,984 (GRCm39) |
Q110* |
probably null |
Het |
| Ido1 |
T |
C |
8: 25,081,558 (GRCm39) |
D41G |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,898,152 (GRCm39) |
S805P |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,147 (GRCm39) |
A24E |
probably damaging |
Het |
| Mmp23 |
C |
T |
4: 155,735,710 (GRCm39) |
C287Y |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,087,918 (GRCm39) |
R147G |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,292,147 (GRCm39) |
K301E |
possibly damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,535 (GRCm39) |
L196P |
probably damaging |
Het |
| Or8g4 |
G |
A |
9: 39,662,063 (GRCm39) |
C127Y |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,671,776 (GRCm39) |
C60S |
probably benign |
Het |
| Rora |
A |
G |
9: 68,561,203 (GRCm39) |
S11G |
probably benign |
Het |
| Rps6ka5 |
G |
T |
12: 100,585,839 (GRCm39) |
H151Q |
possibly damaging |
Het |
| Sgsh |
A |
G |
11: 119,241,807 (GRCm39) |
S100P |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,694,902 (GRCm39) |
T1229A |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,248,804 (GRCm39) |
Y62H |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Smg1 |
C |
T |
7: 117,742,570 (GRCm39) |
V3215I |
probably benign |
Het |
| Smyd2 |
G |
A |
1: 189,617,579 (GRCm39) |
P285L |
possibly damaging |
Het |
| Themis2 |
T |
C |
4: 132,523,567 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
G |
4: 43,547,732 (GRCm39) |
V743A |
probably damaging |
Het |
| Wnt2 |
T |
A |
6: 18,028,145 (GRCm39) |
M30L |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,576,365 (GRCm39) |
I239V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCATACCTTCCTGGATAAG -3'
(R):5'- ATCTGTCCTAAGGATCCCCAG -3'
Sequencing Primer
(F):5'- TAAGCCTCCAGGGTCTGAAG -3'
(R):5'- AGGCACAATCCCTCCCTATTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation