Incidental Mutation 'IGL01939:Tpo'
| ID |
180780 |
| 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 # |
IGL01939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30134646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 771
(T771A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021005
AA Change: T771A
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: T771A
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
T |
4: 129,885,925 (GRCm39) |
D22Y |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,701,183 (GRCm39) |
V242A |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,551,769 (GRCm39) |
N1127S |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,976,380 (GRCm39) |
H267L |
probably benign |
Het |
| Ces1b |
C |
T |
8: 93,806,059 (GRCm39) |
G61R |
probably damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,286 (GRCm39) |
D355V |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,021,005 (GRCm39) |
S459P |
probably damaging |
Het |
| Crygd |
T |
C |
1: 65,101,185 (GRCm39) |
T137A |
probably benign |
Het |
| Dctn4 |
T |
A |
18: 60,677,202 (GRCm39) |
M174K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,964,790 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,174,806 (GRCm39) |
D1969A |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,353,606 (GRCm39) |
E317V |
probably damaging |
Het |
| Foxf2 |
G |
T |
13: 31,810,697 (GRCm39) |
S212I |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,685 (GRCm39) |
|
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,105 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,893,946 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
T |
C |
18: 35,071,761 (GRCm39) |
E613G |
possibly damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,501,168 (GRCm39) |
I515V |
possibly damaging |
Het |
| Ins1 |
G |
T |
19: 52,253,173 (GRCm39) |
A38S |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,562,488 (GRCm39) |
N418D |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,961,778 (GRCm39) |
K417E |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,563,226 (GRCm39) |
Y823H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,168,100 (GRCm39) |
D421E |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,492,900 (GRCm39) |
S150P |
possibly damaging |
Het |
| Nectin1 |
C |
T |
9: 43,703,871 (GRCm39) |
|
probably benign |
Het |
| Nkx1-2 |
A |
T |
7: 132,201,203 (GRCm39) |
I18N |
probably damaging |
Het |
| Or4s2b |
A |
G |
2: 88,509,077 (GRCm39) |
T286A |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,807 (GRCm39) |
I272F |
probably benign |
Het |
| Or8g33 |
A |
C |
9: 39,337,634 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,285 (GRCm39) |
D70G |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,232,232 (GRCm39) |
R237G |
probably damaging |
Het |
| Pp2d1 |
G |
A |
17: 53,822,167 (GRCm39) |
L300F |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,420 (GRCm39) |
Y516N |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,370,158 (GRCm39) |
|
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,617,650 (GRCm39) |
V16A |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,604,864 (GRCm39) |
C82S |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,480 (GRCm39) |
E393G |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,856,889 (GRCm39) |
E449V |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,859,334 (GRCm39) |
H1143Q |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,208,549 (GRCm39) |
I530T |
probably benign |
Het |
| Sel1l |
T |
A |
12: 91,783,021 (GRCm39) |
Q482L |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,648 (GRCm39) |
M280T |
probably damaging |
Het |
| Slc39a10 |
T |
A |
1: 46,871,895 (GRCm39) |
H348L |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,367,120 (GRCm39) |
L542P |
possibly damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,396,488 (GRCm39) |
Q609L |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,665,781 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,365,262 (GRCm39) |
|
probably null |
Het |
| Tpr |
G |
A |
1: 150,289,496 (GRCm39) |
R609H |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,295,141 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
G |
T |
13: 22,403,893 (GRCm39) |
S33* |
probably null |
Het |
| Vmn2r104 |
A |
C |
17: 20,250,187 (GRCm39) |
S695A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r24 |
A |
G |
6: 123,764,404 (GRCm39) |
D427G |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,846 (GRCm39) |
S160P |
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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation