Incidental Mutation 'R8877:Tpo'
| ID |
676649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpo
|
| Ensembl Gene |
ENSMUSG00000020673 |
| Gene Name |
thyroid peroxidase |
| Synonyms |
|
| MMRRC Submission |
068745-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
R8877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
30104658-30182623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30142738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 662
(N662I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021005]
|
| AlphaFold |
P35419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021005
AA Change: N662I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: N662I
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,288,704 (GRCm39) |
|
probably null |
Het |
| Acp2 |
G |
A |
2: 91,036,129 (GRCm39) |
R109H |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,862,688 (GRCm39) |
S298P |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,517,548 (GRCm39) |
V157A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,740,904 (GRCm39) |
K181E |
probably damaging |
Het |
| Armt1 |
A |
G |
10: 4,400,864 (GRCm39) |
T204A |
possibly damaging |
Het |
| Brip1 |
A |
C |
11: 86,043,532 (GRCm39) |
V344G |
possibly damaging |
Het |
| Ccdc40 |
C |
T |
11: 119,153,992 (GRCm39) |
S1088L |
probably damaging |
Het |
| Ccdc93 |
A |
T |
1: 121,403,867 (GRCm39) |
H332L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,706,877 (GRCm39) |
D1120G |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,077,985 (GRCm39) |
I631N |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,637,197 (GRCm39) |
A1354T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,541,692 (GRCm39) |
L10P |
probably damaging |
Het |
| Creg2 |
G |
T |
1: 39,689,861 (GRCm39) |
T83K |
probably benign |
Het |
| Ddit3 |
T |
C |
10: 127,131,884 (GRCm39) |
I144T |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,011,292 (GRCm39) |
I1150V |
possibly damaging |
Het |
| Eprs1 |
C |
T |
1: 185,148,071 (GRCm39) |
R1278* |
probably null |
Het |
| Esco1 |
A |
G |
18: 10,575,017 (GRCm39) |
V685A |
probably damaging |
Het |
| Gid8 |
C |
T |
2: 180,358,710 (GRCm39) |
A125V |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,710,941 (GRCm39) |
D208G |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,503,699 (GRCm39) |
I679V |
probably damaging |
Het |
| Gsto2 |
C |
A |
19: 47,873,176 (GRCm39) |
R184S |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,770,854 (GRCm39) |
H830Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,514,659 (GRCm39) |
T3571I |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,131,782 (GRCm39) |
V568A |
possibly damaging |
Het |
| Kif13a |
T |
A |
13: 46,954,921 (GRCm39) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,193,835 (GRCm39) |
V161A |
probably benign |
Het |
| Larp6 |
T |
A |
9: 60,644,850 (GRCm39) |
M330K |
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
| Mavs |
A |
G |
2: 131,087,489 (GRCm39) |
N329S |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,221,630 (GRCm39) |
N193K |
possibly damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,322,468 (GRCm39) |
R12* |
probably null |
Het |
| Mttp |
A |
T |
3: 137,818,317 (GRCm39) |
D380E |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,459,311 (GRCm39) |
T1939I |
probably damaging |
Het |
| Nsun7 |
A |
T |
5: 66,453,294 (GRCm39) |
R670* |
probably null |
Het |
| Obsl1 |
G |
A |
1: 75,473,167 (GRCm39) |
R1019* |
probably null |
Het |
| Or10ak12 |
A |
G |
4: 118,666,482 (GRCm39) |
V193A |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,212 (GRCm39) |
M19T |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,271 (GRCm39) |
V922I |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,951 (GRCm39) |
V190A |
possibly damaging |
Het |
| Plekhg2 |
G |
T |
7: 28,060,278 (GRCm39) |
T993N |
possibly damaging |
Het |
| Psg26 |
C |
T |
7: 18,217,865 (GRCm39) |
V18I |
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,419,424 (GRCm39) |
Y187C |
probably damaging |
Het |
| Smarcd3 |
A |
G |
5: 24,798,990 (GRCm39) |
S323P |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,199,137 (GRCm39) |
Y3163* |
probably null |
Het |
| Stx4a |
T |
A |
7: 127,447,633 (GRCm39) |
V259D |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,087,941 (GRCm39) |
S1331P |
probably damaging |
Het |
| Tmprss11c |
G |
A |
5: 86,385,540 (GRCm39) |
Q311* |
probably null |
Het |
| Trav13d-4 |
C |
A |
14: 53,995,350 (GRCm39) |
D101E |
probably damaging |
Het |
| Trbv14 |
G |
A |
6: 41,112,292 (GRCm39) |
A30T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,567,144 (GRCm39) |
S917P |
possibly damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,856,319 (GRCm39) |
C466* |
probably null |
Het |
| Zfp462 |
T |
C |
4: 55,011,097 (GRCm39) |
V1021A |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,682,017 (GRCm39) |
M72T |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,674,416 (GRCm39) |
E122K |
unknown |
Het |
| Zfyve26 |
T |
C |
12: 79,334,152 (GRCm39) |
K289E |
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 |
|
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 |
|
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'- GGAAGGTCTCCCTCCATAGTTC -3'
(R):5'- AAGTTTGACAGCTTGTGGCC -3'
Sequencing Primer
(F):5'- CATAGTTCAAGGTCCATGCTCGG -3'
(R):5'- TGACAGCTTGTGGCCCATCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation