Incidental Mutation 'R6181:Tpo'
ID |
488101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpo
|
Ensembl Gene |
ENSMUSG00000020673 |
Gene Name |
thyroid peroxidase |
Synonyms |
|
MMRRC Submission |
044323-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.431)
|
Stock # |
R6181 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30181884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 4
(L4F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
[ENSMUST00000155263]
|
AlphaFold |
P35419 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021005
AA Change: L4F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000021005 Gene: ENSMUSG00000020673 AA Change: L4F
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 benign
Transcript: ENSMUST00000155263
AA Change: L4F
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133853 Gene: ENSMUSG00000020673 AA Change: L4F
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b7 |
A |
G |
6: 34,392,313 (GRCm39) |
H42R |
possibly damaging |
Het |
Ankrd26 |
T |
A |
6: 118,525,838 (GRCm39) |
H369L |
probably benign |
Het |
Ano7 |
T |
C |
1: 93,323,081 (GRCm39) |
S474P |
probably damaging |
Het |
Aox3 |
T |
C |
1: 58,198,105 (GRCm39) |
V639A |
probably benign |
Het |
Arhgef2 |
T |
A |
3: 88,542,927 (GRCm39) |
V358E |
probably damaging |
Het |
Brpf3 |
A |
G |
17: 29,029,555 (GRCm39) |
Y505C |
probably damaging |
Het |
Casd1 |
A |
G |
6: 4,619,331 (GRCm39) |
T120A |
probably damaging |
Het |
Ccdc121 |
A |
G |
5: 31,645,399 (GRCm39) |
E384G |
probably damaging |
Het |
Cd200l1 |
A |
G |
16: 45,238,260 (GRCm39) |
S185P |
probably benign |
Het |
Clasp1 |
T |
G |
1: 118,347,547 (GRCm39) |
S32A |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,796,469 (GRCm39) |
L246* |
probably null |
Het |
Clcn7 |
A |
G |
17: 25,370,702 (GRCm39) |
I353V |
possibly damaging |
Het |
Cluap1 |
T |
A |
16: 3,751,608 (GRCm39) |
D322E |
probably benign |
Het |
Cmtm4 |
A |
C |
8: 105,082,997 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
C |
T |
6: 46,736,742 (GRCm39) |
P723S |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,744,096 (GRCm39) |
T84S |
possibly damaging |
Het |
Corin |
A |
G |
5: 72,529,439 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,354,687 (GRCm39) |
T1903I |
probably benign |
Het |
Cyp27b1 |
A |
C |
10: 126,886,279 (GRCm39) |
D320A |
probably damaging |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Dennd2a |
T |
C |
6: 39,462,554 (GRCm39) |
K652R |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock1 |
T |
A |
7: 134,760,251 (GRCm39) |
M1638K |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,722,159 (GRCm39) |
S1924P |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,373,096 (GRCm39) |
S8G |
probably damaging |
Het |
Fam193a |
T |
A |
5: 34,600,884 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
T |
A |
11: 32,692,575 (GRCm39) |
N515K |
probably benign |
Het |
Gm6408 |
T |
C |
5: 146,420,582 (GRCm39) |
V154A |
possibly damaging |
Het |
Guf1 |
A |
G |
5: 69,719,059 (GRCm39) |
Y235C |
probably damaging |
Het |
Hnrnpul2 |
C |
T |
19: 8,800,596 (GRCm39) |
S224L |
possibly damaging |
Het |
Igkv8-19 |
T |
A |
6: 70,317,968 (GRCm39) |
D86V |
probably damaging |
Het |
Iqcf1 |
A |
T |
9: 106,379,174 (GRCm39) |
D61V |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,678,427 (GRCm39) |
D476G |
probably damaging |
Het |
Luzp1 |
A |
G |
4: 136,270,578 (GRCm39) |
T934A |
probably benign |
Het |
Mboat7 |
A |
T |
7: 3,686,884 (GRCm39) |
Y319N |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,715,953 (GRCm39) |
E2045G |
probably damaging |
Het |
Mfsd14b |
T |
C |
13: 65,260,398 (GRCm39) |
R12G |
probably benign |
Het |
Micall2 |
T |
A |
5: 139,702,506 (GRCm39) |
T246S |
probably benign |
Het |
Npepps |
A |
G |
11: 97,132,830 (GRCm39) |
V299A |
probably damaging |
Het |
Or2y11 |
T |
A |
11: 49,443,120 (GRCm39) |
V182D |
probably damaging |
Het |
P2ry13 |
A |
G |
3: 59,117,328 (GRCm39) |
V150A |
probably benign |
Het |
Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
Pde8b |
C |
T |
13: 95,223,316 (GRCm39) |
E313K |
probably benign |
Het |
Pgap1 |
C |
T |
1: 54,551,936 (GRCm39) |
G499R |
probably benign |
Het |
Ppp1r15b |
T |
A |
1: 133,060,261 (GRCm39) |
C259* |
probably null |
Het |
Pramel21 |
T |
A |
4: 143,342,828 (GRCm39) |
|
probably null |
Het |
Ptgs1 |
A |
G |
2: 36,141,131 (GRCm39) |
E526G |
probably damaging |
Het |
Ptpn21 |
A |
G |
12: 98,666,258 (GRCm39) |
L271P |
probably damaging |
Het |
Rbm47 |
T |
C |
5: 66,183,833 (GRCm39) |
T257A |
possibly damaging |
Het |
Rfc3 |
C |
T |
5: 151,570,985 (GRCm39) |
D104N |
probably damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,058,808 (GRCm39) |
I330T |
probably benign |
Het |
Rnf207 |
T |
C |
4: 152,393,305 (GRCm39) |
T570A |
probably benign |
Het |
Rusf1 |
A |
G |
7: 127,896,632 (GRCm39) |
|
probably null |
Het |
Sbpl |
T |
C |
17: 24,172,466 (GRCm39) |
H151R |
probably damaging |
Het |
Sstr3 |
T |
C |
15: 78,423,661 (GRCm39) |
D362G |
probably benign |
Het |
St7 |
T |
C |
6: 17,694,363 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,194,235 (GRCm39) |
M1145K |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,939,788 (GRCm39) |
V420A |
probably damaging |
Het |
Tet2 |
C |
A |
3: 133,193,520 (GRCm39) |
E305* |
probably null |
Het |
Tmem209 |
A |
T |
6: 30,505,970 (GRCm39) |
V68E |
probably damaging |
Het |
Tmod4 |
A |
T |
3: 95,035,118 (GRCm39) |
I208F |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,575,982 (GRCm39) |
H858R |
probably benign |
Het |
Utrn |
A |
G |
10: 12,615,200 (GRCm39) |
W324R |
probably damaging |
Het |
V1rd19 |
T |
A |
7: 23,702,640 (GRCm39) |
F35L |
possibly damaging |
Het |
Vmn1r170 |
C |
A |
7: 23,305,692 (GRCm39) |
N31K |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,452 (GRCm39) |
Y256F |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,294,019 (GRCm39) |
I702T |
possibly damaging |
Het |
Vmn2r96 |
G |
A |
17: 18,804,126 (GRCm39) |
A459T |
probably benign |
Het |
Vwf |
G |
T |
6: 125,543,109 (GRCm39) |
A132S |
probably damaging |
Het |
Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,028,700 (GRCm39) |
S1238P |
possibly damaging |
Het |
Zfp804a |
G |
T |
2: 82,087,486 (GRCm39) |
M438I |
probably damaging |
Het |
Zgrf1 |
G |
A |
3: 127,381,590 (GRCm39) |
G246S |
probably damaging |
Het |
Zwint |
T |
C |
10: 72,492,431 (GRCm39) |
V115A |
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 |
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 |
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'- CAACCGCACTGACATGTTTG -3'
(R):5'- AGAGATTTCCCATTCTCTAGTTACACC -3'
Sequencing Primer
(F):5'- AACCGCACTGACATGTTTGGTTTG -3'
(R):5'- GACCAGGTCTGTTTAGCACTACAG -3'
|
Posted On |
2017-10-10 |