Incidental Mutation 'R5367:Tpo'
| ID |
429430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpo
|
| Ensembl Gene |
ENSMUSG00000020673 |
| Gene Name |
thyroid peroxidase |
| Synonyms |
|
| MMRRC Submission |
042945-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R5367 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30153289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 355
(Y355C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021005
AA Change: Y355C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: Y355C
| 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 |
0.3388 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
97% (70/72) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
C |
3: 59,947,057 (GRCm39) |
Y252H |
probably damaging |
Het |
| Aadat |
T |
C |
8: 60,979,630 (GRCm39) |
I164T |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,664,479 (GRCm39) |
H389R |
probably benign |
Het |
| Alkbh5 |
G |
T |
11: 60,429,529 (GRCm39) |
R94L |
possibly damaging |
Het |
| Ampd3 |
A |
G |
7: 110,407,078 (GRCm39) |
K644R |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,722,461 (GRCm39) |
L328H |
probably damaging |
Het |
| Ankrd55 |
G |
T |
13: 112,455,036 (GRCm39) |
V45F |
probably damaging |
Het |
| Apol7c |
C |
A |
15: 77,410,347 (GRCm39) |
V200F |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,058,337 (GRCm39) |
V721M |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,227,156 (GRCm39) |
D400G |
probably damaging |
Het |
| Bmp4 |
G |
T |
14: 46,621,950 (GRCm39) |
T198K |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 52,025,016 (GRCm39) |
F970L |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,098 (GRCm39) |
S148P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,445,486 (GRCm39) |
C1708S |
possibly damaging |
Het |
| Clec2l |
T |
C |
6: 38,654,459 (GRCm39) |
F147L |
possibly damaging |
Het |
| Cnksr1 |
T |
A |
4: 133,957,525 (GRCm39) |
I465F |
possibly damaging |
Het |
| Coq10b |
A |
G |
1: 55,092,143 (GRCm39) |
D37G |
probably benign |
Het |
| Cpq |
T |
G |
15: 33,213,250 (GRCm39) |
Y90D |
possibly damaging |
Het |
| Depdc1a |
G |
A |
3: 159,229,591 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,266,639 (GRCm39) |
|
probably null |
Het |
| Eif3e |
C |
T |
15: 43,115,700 (GRCm39) |
M355I |
probably damaging |
Het |
| Eif4e1b |
G |
A |
13: 54,934,757 (GRCm39) |
V181M |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,680 (GRCm39) |
E113G |
probably damaging |
Het |
| Fads2 |
A |
G |
19: 10,041,649 (GRCm39) |
L438P |
probably damaging |
Het |
| Fbl |
T |
A |
7: 27,874,475 (GRCm39) |
V67E |
probably damaging |
Het |
| Gde1 |
A |
G |
7: 118,304,629 (GRCm39) |
L82P |
probably damaging |
Het |
| Gm10226 |
T |
C |
17: 21,910,884 (GRCm39) |
S40P |
possibly damaging |
Het |
| Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
| Gm1988 |
T |
A |
7: 38,823,204 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
T |
C |
6: 136,463,502 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,927,014 (GRCm39) |
Q915L |
possibly damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,645 (GRCm39) |
G1282D |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,384,875 (GRCm39) |
L407Q |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,301,296 (GRCm39) |
H118L |
probably damaging |
Het |
| Mmp10 |
G |
T |
9: 7,505,603 (GRCm39) |
C289F |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,807,732 (GRCm39) |
S2029T |
probably damaging |
Het |
| Nap1l4 |
A |
C |
7: 143,088,035 (GRCm39) |
S174R |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,576,942 (GRCm39) |
T490A |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,625,147 (GRCm39) |
I43F |
probably damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,235 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,800 (GRCm39) |
V80A |
possibly damaging |
Het |
| Or5b106 |
G |
A |
19: 13,123,865 (GRCm39) |
L53F |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,438,718 (GRCm39) |
C179S |
probably damaging |
Het |
| Pdlim7 |
G |
C |
13: 55,653,975 (GRCm39) |
T214S |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,197,802 (GRCm39) |
E1578G |
probably damaging |
Het |
| Ptcd1 |
T |
A |
5: 145,084,715 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,897,277 (GRCm39) |
|
probably null |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scrn2 |
A |
G |
11: 96,923,953 (GRCm39) |
D279G |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,914 (GRCm39) |
D94G |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,266 (GRCm39) |
V309E |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,623,637 (GRCm39) |
E12G |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,635,135 (GRCm39) |
|
probably null |
Het |
| Smr3a |
T |
C |
5: 88,155,897 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,656,260 (GRCm39) |
I72T |
probably damaging |
Het |
| Tmem234 |
G |
T |
4: 129,494,500 (GRCm39) |
|
probably benign |
Het |
| Tmem35b |
A |
G |
4: 127,018,266 (GRCm39) |
Q20R |
possibly damaging |
Het |
| Tom1l2 |
G |
A |
11: 60,132,634 (GRCm39) |
H430Y |
probably benign |
Het |
| Tulp2 |
A |
G |
7: 45,166,075 (GRCm39) |
N122S |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,111 (GRCm39) |
L1194H |
probably damaging |
Het |
| Xbp1 |
T |
C |
11: 5,471,910 (GRCm39) |
V12A |
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 |
|
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'- ACAGAGGCACATACCTGGTG -3'
(R):5'- AACCTGTCTGCAGCCAATCC -3'
Sequencing Primer
(F):5'- ACATACCTGGTGCAGTGC -3'
(R):5'- CCAATCCGAGGCAGCAGATG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation