Incidental Mutation 'R9400:Tpo'
ID |
711066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpo
|
Ensembl Gene |
ENSMUSG00000020673 |
Gene Name |
thyroid peroxidase |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.431)
|
Stock # |
R9400 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30169441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 98
(I98K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
[ENSMUST00000155263]
|
AlphaFold |
P35419 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021005
AA Change: I98K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021005 Gene: ENSMUSG00000020673 AA Change: I98K
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 |
probably damaging
Transcript: ENSMUST00000155263
AA Change: I98K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133853 Gene: ENSMUSG00000020673 AA Change: I98K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
SCOP:g1cxp.1
|
136 |
155 |
5e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
A |
G |
17: 9,211,118 (GRCm39) |
N89S |
probably benign |
Het |
9930111J21Rik1 |
C |
T |
11: 48,839,244 (GRCm39) |
E448K |
possibly damaging |
Het |
Acer1 |
G |
A |
17: 57,288,990 (GRCm39) |
T40M |
probably damaging |
Het |
Adam1a |
T |
C |
5: 121,657,893 (GRCm39) |
T467A |
probably benign |
Het |
Agmat |
A |
G |
4: 141,476,981 (GRCm39) |
D129G |
probably damaging |
Het |
Ak8 |
T |
A |
2: 28,650,011 (GRCm39) |
I346N |
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,291,875 (GRCm39) |
V1186E |
probably damaging |
Het |
Ankrd27 |
T |
G |
7: 35,316,282 (GRCm39) |
L516R |
probably damaging |
Het |
Aplp2 |
C |
A |
9: 31,075,855 (GRCm39) |
R402L |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,407,641 (GRCm39) |
Y2176C |
probably damaging |
Het |
Boc |
T |
C |
16: 44,319,844 (GRCm39) |
D380G |
|
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Chst2 |
T |
C |
9: 95,287,642 (GRCm39) |
S235G |
probably benign |
Het |
Clca4b |
A |
G |
3: 144,616,953 (GRCm39) |
V899A |
probably benign |
Het |
Ddx1 |
A |
G |
12: 13,273,703 (GRCm39) |
S617P |
probably damaging |
Het |
Etv5 |
A |
T |
16: 22,220,476 (GRCm39) |
F304I |
probably benign |
Het |
Fmo9 |
T |
G |
1: 166,505,243 (GRCm39) |
E50A |
probably benign |
Het |
Gbp11 |
T |
C |
5: 105,478,841 (GRCm39) |
E199G |
probably damaging |
Het |
Gemin5 |
C |
T |
11: 58,028,541 (GRCm39) |
G893D |
probably damaging |
Het |
Gorab |
G |
T |
1: 163,224,567 (GRCm39) |
P78Q |
probably damaging |
Het |
Gprc5a |
A |
G |
6: 135,055,558 (GRCm39) |
T2A |
probably benign |
Het |
Gtf3c1 |
A |
G |
7: 125,275,683 (GRCm39) |
I581T |
probably damaging |
Het |
H6pd |
A |
G |
4: 150,080,248 (GRCm39) |
F199S |
probably damaging |
Het |
Hdac3 |
A |
T |
18: 38,070,677 (GRCm39) |
V426E |
possibly damaging |
Het |
Jag2 |
G |
T |
12: 112,875,608 (GRCm39) |
Y838* |
probably null |
Het |
Kat6b |
G |
T |
14: 21,659,826 (GRCm39) |
R210L |
probably damaging |
Het |
Kctd11 |
C |
A |
11: 69,770,544 (GRCm39) |
E165* |
probably null |
Het |
Knl1 |
T |
C |
2: 118,931,224 (GRCm39) |
V1980A |
probably damaging |
Het |
Lilrb4b |
T |
C |
10: 51,357,319 (GRCm39) |
S52P |
probably benign |
Het |
Lrp5 |
T |
G |
19: 3,635,272 (GRCm39) |
M1535L |
probably benign |
Het |
Lrr1 |
A |
G |
12: 69,221,476 (GRCm39) |
D206G |
probably benign |
Het |
Lrrd1 |
G |
A |
5: 3,899,677 (GRCm39) |
|
probably benign |
Het |
Map3k6 |
C |
A |
4: 132,968,467 (GRCm39) |
A23E |
probably damaging |
Het |
Mgat4a |
T |
C |
1: 37,502,025 (GRCm39) |
D241G |
probably damaging |
Het |
Mpzl3 |
A |
G |
9: 44,986,077 (GRCm39) |
Y237C |
possibly damaging |
Het |
Mroh1 |
A |
G |
15: 76,336,093 (GRCm39) |
E1489G |
possibly damaging |
Het |
Myocd |
T |
C |
11: 65,086,934 (GRCm39) |
H331R |
probably benign |
Het |
Myoz1 |
T |
A |
14: 20,699,504 (GRCm39) |
H278L |
probably benign |
Het |
Or12d2 |
A |
T |
17: 37,624,554 (GRCm39) |
C240* |
probably null |
Het |
Or1e22 |
A |
T |
11: 73,376,807 (GRCm39) |
V281E |
probably damaging |
Het |
Or4c104 |
A |
G |
2: 88,586,293 (GRCm39) |
I242T |
possibly damaging |
Het |
Or5a3 |
C |
A |
19: 12,400,274 (GRCm39) |
N200K |
possibly damaging |
Het |
Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
Or5b24 |
T |
A |
19: 12,912,878 (GRCm39) |
Y259N |
probably damaging |
Het |
Otof |
A |
T |
5: 30,540,863 (GRCm39) |
|
probably null |
Het |
Pcdha1 |
A |
G |
18: 37,064,760 (GRCm39) |
I475V |
probably benign |
Het |
Pcgf1 |
A |
G |
6: 83,057,066 (GRCm39) |
E199G |
possibly damaging |
Het |
Pip |
C |
A |
6: 41,828,782 (GRCm39) |
T109K |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,932,689 (GRCm39) |
E59G |
probably benign |
Het |
Slc38a2 |
T |
C |
15: 96,591,053 (GRCm39) |
I237V |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,595,267 (GRCm39) |
V543A |
probably benign |
Het |
Slc9a2 |
T |
C |
1: 40,758,211 (GRCm39) |
V250A |
possibly damaging |
Het |
Smarcad1 |
T |
C |
6: 65,050,214 (GRCm39) |
Y278H |
probably damaging |
Het |
Snx7 |
A |
T |
3: 117,630,863 (GRCm39) |
N248K |
probably benign |
Het |
Spata6 |
T |
A |
4: 111,577,428 (GRCm39) |
C9S |
probably benign |
Het |
Stra6l |
T |
A |
4: 45,885,293 (GRCm39) |
L587Q |
probably damaging |
Het |
Tmem131l |
G |
T |
3: 83,830,293 (GRCm39) |
N916K |
possibly damaging |
Het |
Tmprss11c |
C |
T |
5: 86,385,516 (GRCm39) |
V319I |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,215,367 (GRCm39) |
T1064A |
probably damaging |
Het |
Vldlr |
T |
C |
19: 27,216,175 (GRCm39) |
I332T |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,843,064 (GRCm39) |
L133Q |
probably damaging |
Het |
Zdhhc21 |
T |
C |
4: 82,753,687 (GRCm39) |
N167S |
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,904 (GRCm39) |
C428S |
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 |
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 |
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'- TCACTAGGTGGGAAGGCTAC -3'
(R):5'- GGATGGAAGAAATGTGTGTCTTCAG -3'
Sequencing Primer
(F):5'- GCTACAGAAAAATTCCCAGTGTG -3'
(R):5'- GATCTCTCATTGGAACCTGAGGC -3'
|
Posted On |
2022-04-20 |