Incidental Mutation 'R6321:Tpo'
| ID |
510359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpo
|
| Ensembl Gene |
ENSMUSG00000020673 |
| Gene Name |
thyroid peroxidase |
| Synonyms |
|
| MMRRC Submission |
044418-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R6321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30153107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 416
(W416R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021005
AA Change: W416R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: W416R
| 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 |
0.9496 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,391,915 (GRCm39) |
M83I |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,190 (GRCm39) |
M460K |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,799,189 (GRCm39) |
A31V |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,587 (GRCm39) |
|
probably benign |
Het |
| Arrdc4 |
C |
A |
7: 68,398,793 (GRCm39) |
D8Y |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,494,953 (GRCm39) |
Y110H |
probably damaging |
Het |
| Blnk |
A |
T |
19: 40,922,903 (GRCm39) |
Y405N |
probably damaging |
Het |
| Capsl |
T |
C |
15: 9,461,855 (GRCm39) |
F84L |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,858,735 (GRCm39) |
|
probably null |
Het |
| Cenpl |
T |
C |
1: 160,902,465 (GRCm39) |
S46P |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,119,951 (GRCm39) |
R90C |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,182,347 (GRCm39) |
M37K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,106,027 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,372,557 (GRCm39) |
V2936G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,783,433 (GRCm39) |
M2055T |
probably damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,344,026 (GRCm39) |
R274S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,139 (GRCm39) |
H371L |
probably damaging |
Het |
| Evi5l |
C |
A |
8: 4,253,080 (GRCm39) |
P454T |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,559 (GRCm39) |
C2299* |
probably null |
Het |
| Heca |
G |
C |
10: 17,790,991 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,697,414 (GRCm39) |
A9T |
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,977,542 (GRCm39) |
W341R |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,107,533 (GRCm39) |
S1571L |
probably benign |
Het |
| Klk1b9 |
A |
G |
7: 43,443,732 (GRCm39) |
E82G |
probably damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,741 (GRCm39) |
Y502H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,843,165 (GRCm39) |
V372A |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,879 (GRCm39) |
D250G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,287,397 (GRCm39) |
D191G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,873,113 (GRCm39) |
V88A |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,018,109 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,594,015 (GRCm39) |
V1342A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,151 (GRCm39) |
E789G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,532,783 (GRCm39) |
T1471A |
probably benign |
Het |
| Scarb1 |
T |
A |
5: 125,381,395 (GRCm39) |
S50C |
probably damaging |
Het |
| Slc4a8 |
C |
T |
15: 100,687,045 (GRCm39) |
T283M |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,462,814 (GRCm39) |
D601E |
probably benign |
Het |
| Snx6 |
C |
A |
12: 54,798,798 (GRCm39) |
V221F |
probably damaging |
Het |
| Spag17 |
A |
C |
3: 99,995,743 (GRCm39) |
K1794T |
probably benign |
Het |
| Ttc13 |
C |
A |
8: 125,409,930 (GRCm39) |
K427N |
probably damaging |
Het |
| Upf3a |
A |
T |
8: 13,837,466 (GRCm39) |
N137I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,581,243 (GRCm39) |
Q3708* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,852,816 (GRCm39) |
F33L |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,763,876 (GRCm39) |
F408L |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,571,237 (GRCm39) |
Y40H |
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 |
|
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 |
|
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'- ACTAAGAAAGCCCATGGTGG -3'
(R):5'- TGCTGCGTGTCAACACTCTC -3'
Sequencing Primer
(F):5'- TGGTGGTCCCACTGGATACTC -3'
(R):5'- GTGTCAACACTCTCCACCTAGATG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation