Incidental Mutation 'IGL03268:Tpo'
| ID |
415147 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpo
|
| Ensembl Gene |
ENSMUSG00000020673 |
| Gene Name |
thyroid peroxidase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
IGL03268
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30144964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 595
(A595D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021005
AA Change: A595D
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: A595D
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,648 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
A |
T |
15: 101,033,803 (GRCm39) |
I162F |
possibly damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,296,170 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,567,669 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,930,296 (GRCm39) |
L227P |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,504,828 (GRCm39) |
I245V |
probably benign |
Het |
| Arf1 |
A |
T |
11: 59,103,663 (GRCm39) |
V123E |
possibly damaging |
Het |
| Catsperg1 |
G |
A |
7: 28,899,668 (GRCm39) |
R338C |
probably damaging |
Het |
| Cc2d1a |
A |
C |
8: 84,860,154 (GRCm39) |
L855R |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,366,953 (GRCm39) |
A220T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,295 (GRCm39) |
H203R |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,951,806 (GRCm39) |
S333* |
probably null |
Het |
| Chrna2 |
T |
A |
14: 66,388,395 (GRCm39) |
|
probably benign |
Het |
| Dact1 |
T |
C |
12: 71,364,257 (GRCm39) |
V346A |
probably damaging |
Het |
| Dcn |
A |
G |
10: 97,319,240 (GRCm39) |
I6V |
probably benign |
Het |
| Dlg3 |
A |
G |
X: 99,853,493 (GRCm39) |
Y600C |
probably damaging |
Het |
| Dmd |
A |
G |
X: 82,849,814 (GRCm39) |
E1084G |
probably damaging |
Het |
| Epb41 |
A |
C |
4: 131,655,806 (GRCm39) |
D825E |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,188,852 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,648,261 (GRCm39) |
D675V |
probably damaging |
Het |
| Igkv2-137 |
A |
G |
6: 67,533,092 (GRCm39) |
D85G |
probably benign |
Het |
| Kxd1 |
A |
G |
8: 70,961,136 (GRCm39) |
I78T |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,298,649 (GRCm39) |
I149N |
probably damaging |
Het |
| Mbnl2 |
G |
T |
14: 120,616,569 (GRCm39) |
C61F |
probably damaging |
Het |
| Mcts1 |
T |
C |
X: 37,690,859 (GRCm39) |
I22T |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,024 (GRCm39) |
T279A |
probably damaging |
Het |
| Or52e3 |
T |
G |
7: 102,869,848 (GRCm39) |
F308V |
probably benign |
Het |
| Pde12 |
T |
A |
14: 26,389,614 (GRCm39) |
E365V |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,537,938 (GRCm39) |
K204R |
probably benign |
Het |
| Rnf25 |
A |
T |
1: 74,638,217 (GRCm39) |
|
probably benign |
Het |
| Rragb |
A |
G |
X: 151,923,493 (GRCm39) |
D5G |
unknown |
Het |
| Rsrc2 |
T |
A |
5: 123,878,790 (GRCm39) |
K56* |
probably null |
Het |
| Scn5a |
T |
C |
9: 119,350,297 (GRCm39) |
Q859R |
probably damaging |
Het |
| Septin4 |
G |
A |
11: 87,480,529 (GRCm39) |
V388M |
probably damaging |
Het |
| Slc29a2 |
C |
T |
19: 5,074,531 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
G |
A |
13: 100,943,211 (GRCm39) |
T549I |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,554 (GRCm39) |
T462A |
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,786,450 (GRCm39) |
E61G |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,803,943 (GRCm39) |
Y5H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,573 (GRCm39) |
D301G |
probably damaging |
Het |
| Syt14 |
A |
G |
1: 192,669,142 (GRCm39) |
V37A |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,612 (GRCm39) |
N210D |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,688,558 (GRCm39) |
D2343G |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 108,907,450 (GRCm39) |
|
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,497,020 (GRCm39) |
D175G |
probably damaging |
Het |
| Tpst2 |
T |
C |
5: 112,456,091 (GRCm39) |
V210A |
probably damaging |
Het |
| Uchl1 |
A |
T |
5: 66,839,824 (GRCm39) |
E122V |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,405 (GRCm39) |
F294I |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation