Incidental Mutation 'R5223:Tpo'
ID |
402451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpo
|
Ensembl Gene |
ENSMUSG00000020673 |
Gene Name |
thyroid peroxidase |
Synonyms |
|
MMRRC Submission |
042796-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.376)
|
Stock # |
R5223 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30142589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 712
(I712F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
AlphaFold |
P35419 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021005
AA Change: I712F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021005 Gene: ENSMUSG00000020673 AA Change: I712F
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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,904,278 (GRCm39) |
V273M |
possibly damaging |
Het |
Acin1 |
CCGC |
CC |
14: 54,880,398 (GRCm39) |
|
probably null |
Het |
Acvr1b |
T |
A |
15: 101,091,857 (GRCm39) |
C46S |
probably damaging |
Het |
Ahi1 |
A |
T |
10: 20,846,818 (GRCm39) |
H416L |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,406,072 (GRCm39) |
L1653Q |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,313,824 (GRCm39) |
V1533M |
possibly damaging |
Het |
Ccdc33 |
C |
T |
9: 57,940,267 (GRCm39) |
E502K |
possibly damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Cyp2a12 |
A |
T |
7: 26,735,888 (GRCm39) |
|
probably null |
Het |
Dnai4 |
T |
A |
4: 102,906,600 (GRCm39) |
S738C |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,816,496 (GRCm39) |
V2675A |
probably damaging |
Het |
Foxh1 |
T |
A |
15: 76,552,929 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gpnmb |
C |
T |
6: 49,033,139 (GRCm39) |
T539M |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,799,867 (GRCm39) |
E286G |
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,085,724 (GRCm39) |
|
probably null |
Het |
Hspg2 |
T |
C |
4: 137,271,225 (GRCm39) |
L2454P |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
Igkv6-32 |
T |
C |
6: 70,051,207 (GRCm39) |
S50G |
probably benign |
Het |
Il23r |
T |
A |
6: 67,463,154 (GRCm39) |
Y113F |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,793,434 (GRCm39) |
D636G |
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,510,171 (GRCm39) |
W569* |
probably null |
Het |
Klra4 |
T |
A |
6: 130,039,110 (GRCm39) |
D94V |
probably damaging |
Het |
Lca5 |
T |
A |
9: 83,280,666 (GRCm39) |
H378L |
probably benign |
Het |
Lhx8 |
T |
A |
3: 154,027,281 (GRCm39) |
T254S |
probably damaging |
Het |
Lrch3 |
C |
T |
16: 32,734,767 (GRCm39) |
R86W |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,354,397 (GRCm39) |
N477I |
probably damaging |
Het |
Man2a1 |
T |
A |
17: 65,019,266 (GRCm39) |
I710K |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,229,826 (GRCm39) |
Y881N |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,402,074 (GRCm39) |
V1100E |
probably damaging |
Het |
Oprk1 |
T |
C |
1: 5,659,519 (GRCm39) |
V83A |
probably benign |
Het |
Or4p8 |
T |
C |
2: 88,727,678 (GRCm39) |
T88A |
probably benign |
Het |
Or5p62 |
A |
G |
7: 107,771,915 (GRCm39) |
V12A |
probably benign |
Het |
Or7g35 |
T |
C |
9: 19,496,322 (GRCm39) |
V163A |
probably benign |
Het |
Pacs1 |
C |
T |
19: 5,195,169 (GRCm39) |
V472I |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,383,272 (GRCm39) |
Y789H |
probably damaging |
Het |
Pcdha2 |
T |
C |
18: 37,073,844 (GRCm39) |
Y492H |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,216,106 (GRCm39) |
N2261D |
probably damaging |
Het |
Pex5l |
A |
T |
3: 33,012,945 (GRCm39) |
S15T |
probably damaging |
Het |
Plekhg4 |
A |
G |
8: 106,105,581 (GRCm39) |
N682S |
probably benign |
Het |
Poc5 |
A |
T |
13: 96,539,463 (GRCm39) |
M335L |
probably benign |
Het |
Polr1a |
C |
T |
6: 71,944,891 (GRCm39) |
R1316W |
possibly damaging |
Het |
Pp2d1 |
T |
C |
17: 53,814,873 (GRCm39) |
H617R |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,454,591 (GRCm39) |
S296R |
probably benign |
Het |
Prpsap1 |
T |
C |
11: 116,378,974 (GRCm39) |
K65E |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,952,909 (GRCm39) |
E775G |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
Rbbp8 |
C |
A |
18: 11,854,747 (GRCm39) |
A324E |
probably benign |
Het |
Rfx6 |
G |
T |
10: 51,554,092 (GRCm39) |
G63* |
probably null |
Het |
Rpl37a |
T |
C |
1: 72,751,308 (GRCm39) |
M47T |
probably benign |
Het |
Samm50 |
T |
G |
15: 84,084,831 (GRCm39) |
N187K |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,064,142 (GRCm39) |
|
probably null |
Het |
Slamf9 |
T |
C |
1: 172,303,799 (GRCm39) |
I48T |
possibly damaging |
Het |
Slc2a12 |
A |
G |
10: 22,577,931 (GRCm39) |
K576E |
probably damaging |
Het |
Slc4a10 |
G |
A |
2: 62,083,710 (GRCm39) |
G388S |
probably damaging |
Het |
Smtn |
G |
T |
11: 3,479,530 (GRCm39) |
N512K |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,455,258 (GRCm39) |
Y3040C |
probably damaging |
Het |
Stat1 |
T |
A |
1: 52,183,401 (GRCm39) |
V389E |
probably damaging |
Het |
Sult5a1 |
A |
T |
8: 123,872,161 (GRCm39) |
M227K |
probably damaging |
Het |
Thsd4 |
T |
C |
9: 59,964,325 (GRCm39) |
D389G |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,923,052 (GRCm39) |
V2545A |
possibly damaging |
Het |
Trim62 |
T |
C |
4: 128,803,204 (GRCm39) |
V418A |
probably damaging |
Het |
Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r66 |
T |
C |
7: 84,657,093 (GRCm39) |
D104G |
probably benign |
Het |
Wdr26 |
T |
C |
1: 181,015,251 (GRCm39) |
I371V |
probably benign |
Het |
Zfp273 |
T |
G |
13: 67,974,298 (GRCm39) |
C475W |
probably damaging |
Het |
Zfp738 |
G |
T |
13: 67,821,182 (GRCm39) |
T55K |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,183,971 (GRCm39) |
I978V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACCTCTCGGCTCTGATTC -3'
(R):5'- ACATGCCTTCTCCTGTGTAGG -3'
Sequencing Primer
(F):5'- GGGTGCTACCATTCTATACGAG -3'
(R):5'- AGGTTTTGGTGGGAGAACAC -3'
|
Posted On |
2016-07-22 |