Incidental Mutation 'R7234:Tpo'
| ID |
562712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpo
|
| Ensembl Gene |
ENSMUSG00000020673 |
| Gene Name |
thyroid peroxidase |
| Synonyms |
|
| MMRRC Submission |
045304-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R7234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30142685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 680
(P680S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021005
AA Change: P680S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: P680S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| Acy3 |
T |
A |
19: 4,037,758 (GRCm39) |
Y88* |
probably null |
Het |
| AI606181 |
T |
A |
19: 41,582,076 (GRCm39) |
I82N |
unknown |
Het |
| Akap1 |
T |
C |
11: 88,729,808 (GRCm39) |
Y638C |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,323,121 (GRCm39) |
N383D |
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,742 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
C |
T |
6: 48,882,750 (GRCm39) |
Q209* |
probably null |
Het |
| Apol7c |
A |
T |
15: 77,409,875 (GRCm39) |
L357* |
probably null |
Het |
| Atxn2l |
A |
G |
7: 126,092,373 (GRCm39) |
L958P |
probably damaging |
Het |
| Cab39l |
T |
A |
14: 59,734,395 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,295,024 (GRCm39) |
|
probably null |
Het |
| Cdkn3 |
T |
C |
14: 47,008,918 (GRCm39) |
S204P |
unknown |
Het |
| Cds2 |
T |
C |
2: 132,146,400 (GRCm39) |
|
probably null |
Het |
| Cideb |
C |
T |
14: 55,992,017 (GRCm39) |
R179H |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,254,625 (GRCm39) |
Q1006R |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,350,572 (GRCm39) |
Y1547C |
|
Het |
| Dicer1 |
A |
G |
12: 104,675,108 (GRCm39) |
L718S |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dyrk2 |
T |
C |
10: 118,696,136 (GRCm39) |
H374R |
possibly damaging |
Het |
| Edem2 |
A |
T |
2: 155,552,886 (GRCm39) |
Y283N |
probably benign |
Het |
| Ero1b |
A |
T |
13: 12,615,203 (GRCm39) |
S345C |
possibly damaging |
Het |
| Fam83g |
T |
C |
11: 61,593,342 (GRCm39) |
V292A |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,507,841 (GRCm39) |
D513G |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,562 (GRCm39) |
W617R |
probably benign |
Het |
| Fzd7 |
G |
A |
1: 59,522,443 (GRCm39) |
V109M |
probably damaging |
Het |
| Gbp5 |
A |
T |
3: 142,226,898 (GRCm39) |
H583L |
probably benign |
Het |
| Gm10306 |
T |
A |
4: 94,445,032 (GRCm39) |
L84M |
unknown |
Het |
| Gsap |
A |
G |
5: 21,391,433 (GRCm39) |
T25A |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,467,136 (GRCm39) |
R2466L |
possibly damaging |
Het |
| Ide |
C |
A |
19: 37,268,184 (GRCm39) |
C557F |
|
Het |
| Ift70a2 |
A |
T |
2: 75,806,540 (GRCm39) |
Y657* |
probably null |
Het |
| Igdcc4 |
T |
A |
9: 65,042,750 (GRCm39) |
C1234* |
probably null |
Het |
| Ints4 |
A |
G |
7: 97,179,507 (GRCm39) |
I701V |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,996,792 (GRCm39) |
I1467F |
possibly damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,363,256 (GRCm39) |
R2M |
unknown |
Het |
| Kcnrg |
A |
T |
14: 61,845,531 (GRCm39) |
E190D |
unknown |
Het |
| Klk13 |
T |
C |
7: 43,370,841 (GRCm39) |
L131P |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,099,359 (GRCm39) |
L14Q |
possibly damaging |
Het |
| Mdm4 |
A |
T |
1: 132,938,853 (GRCm39) |
D80E |
probably damaging |
Het |
| Mib2 |
G |
T |
4: 155,742,350 (GRCm39) |
Q311K |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,452,773 (GRCm39) |
S1703T |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,011 (GRCm39) |
C200* |
probably null |
Het |
| Ncapd3 |
T |
A |
9: 26,961,655 (GRCm39) |
I361N |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,640,451 (GRCm39) |
E259G |
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,784,673 (GRCm39) |
F104I |
probably damaging |
Het |
| Or51v14 |
A |
G |
7: 103,261,089 (GRCm39) |
L157P |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,488,698 (GRCm39) |
H1658L |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,789,462 (GRCm39) |
T297A |
possibly damaging |
Het |
| Rap1gap |
T |
A |
4: 137,455,851 (GRCm39) |
C722* |
probably null |
Het |
| Ribc2 |
A |
G |
15: 85,019,733 (GRCm39) |
K172E |
probably benign |
Het |
| Scamp5 |
C |
A |
9: 57,354,423 (GRCm39) |
W77L |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,130,957 (GRCm39) |
K319* |
probably null |
Het |
| Sec16a |
G |
T |
2: 26,329,780 (GRCm39) |
T745K |
probably damaging |
Het |
| Slc15a2 |
G |
A |
16: 36,578,173 (GRCm39) |
A403V |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,053,466 (GRCm39) |
V145A |
probably benign |
Het |
| Sncaip |
C |
T |
18: 53,048,416 (GRCm39) |
H951Y |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,712,630 (GRCm39) |
|
probably null |
Het |
| Spen |
C |
T |
4: 141,206,446 (GRCm39) |
R727Q |
unknown |
Het |
| Thra |
T |
C |
11: 98,654,544 (GRCm39) |
S305P |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,067 (GRCm39) |
V170A |
probably damaging |
Het |
| Tmem260 |
T |
A |
14: 48,742,786 (GRCm39) |
C388* |
probably null |
Het |
| Tmem60 |
T |
A |
5: 21,091,619 (GRCm39) |
V128D |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,205,595 (GRCm39) |
E730G |
possibly damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,315 (GRCm39) |
T608A |
probably benign |
Het |
| Xrra1 |
G |
A |
7: 99,563,456 (GRCm39) |
S481N |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,162,961 (GRCm39) |
V446I |
unknown |
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 |
|
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 |
|
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'- TCGGTCTCTTTGAGAGGTTAAACTG -3'
(R):5'- AGATTCTCACAAGCCCTGCG -3'
Sequencing Primer
(F):5'- GGTTAAACTGACGTTAATGACACG -3'
(R):5'- GTGCTGTGGCTACCCTATGACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation