Incidental Mutation 'R1689:Tpo'
| ID |
189589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpo
|
| Ensembl Gene |
ENSMUSG00000020673 |
| Gene Name |
thyroid peroxidase |
| Synonyms |
|
| MMRRC Submission |
039722-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R1689 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30148245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 552
(L552H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021005
AA Change: L552H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: L552H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140875
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,769,827 (GRCm39) |
K896R |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,115,426 (GRCm39) |
|
probably null |
Het |
| Adgre1 |
T |
C |
17: 57,756,921 (GRCm39) |
F726S |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,595,948 (GRCm39) |
S148T |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Ammecr1l |
C |
A |
18: 31,913,741 (GRCm39) |
A289D |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,504,518 (GRCm39) |
Y230C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,682,187 (GRCm39) |
S65R |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,084,575 (GRCm39) |
Y1440* |
probably null |
Het |
| Atf6b |
T |
A |
17: 34,869,276 (GRCm39) |
D164E |
probably damaging |
Het |
| B4galt6 |
C |
T |
18: 20,839,553 (GRCm39) |
S127N |
probably benign |
Het |
| Bcl11a |
A |
T |
11: 24,113,167 (GRCm39) |
Y170F |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,114,406 (GRCm39) |
D583V |
possibly damaging |
Het |
| Btnl1 |
T |
A |
17: 34,600,182 (GRCm39) |
Y228* |
probably null |
Het |
| Cav2 |
A |
G |
6: 17,281,421 (GRCm39) |
H21R |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,314,620 (GRCm39) |
D1135V |
possibly damaging |
Het |
| Cntnap1 |
A |
C |
11: 101,079,699 (GRCm39) |
|
probably null |
Het |
| Cysltr2 |
T |
C |
14: 73,267,470 (GRCm39) |
D80G |
possibly damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dgkh |
A |
T |
14: 78,855,984 (GRCm39) |
M363K |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,797,194 (GRCm39) |
V1112M |
probably damaging |
Het |
| Entpd7 |
A |
G |
19: 43,713,915 (GRCm39) |
T425A |
probably damaging |
Het |
| Ephx2 |
T |
A |
14: 66,324,475 (GRCm39) |
K373* |
probably null |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,750,862 (GRCm39) |
I482L |
probably damaging |
Het |
| Fbxw8 |
T |
C |
5: 118,215,682 (GRCm39) |
S443G |
probably damaging |
Het |
| Fdft1 |
T |
C |
14: 63,394,138 (GRCm39) |
E191G |
probably benign |
Het |
| Fgd2 |
A |
G |
17: 29,582,696 (GRCm39) |
E26G |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,790,885 (GRCm39) |
|
probably null |
Het |
| Gc |
A |
G |
5: 89,589,059 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,439,506 (GRCm39) |
D1361E |
probably benign |
Het |
| Hid1 |
A |
G |
11: 115,251,183 (GRCm39) |
F118L |
probably damaging |
Het |
| Igsf8 |
G |
T |
1: 172,146,504 (GRCm39) |
G564W |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,313,744 (GRCm39) |
V4A |
probably benign |
Het |
| Irak3 |
T |
C |
10: 119,982,457 (GRCm39) |
E335G |
probably damaging |
Het |
| Itgb8 |
T |
G |
12: 119,134,555 (GRCm39) |
Q504P |
probably benign |
Het |
| Kbtbd12 |
A |
T |
6: 88,595,567 (GRCm39) |
Y88N |
probably damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,869,969 (GRCm39) |
I226T |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,131,527 (GRCm39) |
I135N |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,333,873 (GRCm39) |
T1456K |
probably benign |
Het |
| Mrgprd |
C |
A |
7: 144,875,454 (GRCm39) |
Y108* |
probably null |
Het |
| Muc6 |
C |
T |
7: 141,234,265 (GRCm39) |
G742D |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,522,666 (GRCm39) |
I1572F |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,280,231 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,495 (GRCm39) |
S202P |
possibly damaging |
Het |
| Or1ak2 |
A |
G |
2: 36,827,989 (GRCm39) |
N286S |
probably damaging |
Het |
| Or7d11 |
A |
T |
9: 19,966,422 (GRCm39) |
N112K |
possibly damaging |
Het |
| Pacs1 |
G |
T |
19: 5,322,643 (GRCm39) |
|
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,784,968 (GRCm39) |
L14P |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,408,688 (GRCm39) |
G176D |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,376 (GRCm39) |
K169I |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,345,412 (GRCm39) |
F5L |
probably benign |
Het |
| Qrfprl |
A |
G |
6: 65,358,591 (GRCm39) |
N105S |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,552 (GRCm39) |
L2114P |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Senp2 |
T |
A |
16: 21,845,416 (GRCm39) |
Y217N |
probably damaging |
Het |
| Sned1 |
C |
T |
1: 93,211,094 (GRCm39) |
R1061C |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 70,500,277 (GRCm39) |
T535I |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,619,583 (GRCm39) |
L355* |
probably null |
Het |
| Tmem132b |
A |
G |
5: 125,864,678 (GRCm39) |
H928R |
possibly damaging |
Het |
| Tsfm |
A |
T |
10: 126,864,324 (GRCm39) |
N130K |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,383,418 (GRCm39) |
|
probably null |
Het |
| Vsig10 |
A |
G |
5: 117,490,825 (GRCm39) |
D544G |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,792 (GRCm39) |
T433I |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,336,422 (GRCm39) |
F1655L |
probably damaging |
Het |
| Wfdc3 |
T |
A |
2: 164,576,111 (GRCm39) |
D60V |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATACCAGATACCGAGCCCGAGAG -3'
(R):5'- TTGGTGGCAGTGTCCTAAAGAACC -3'
Sequencing Primer
(F):5'- GAGTTCTTCCTTCAGCACACAC -3'
(R):5'- GCGCCTTATAACTGAGAATCTATCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation