Incidental Mutation 'R6560:Dio2'
| ID |
522029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dio2
|
| Ensembl Gene |
ENSMUSG00000007682 |
| Gene Name |
deiodinase, iodothyronine, type II |
| Synonyms |
|
| MMRRC Submission |
044684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
90691326-90705812 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to C
at 90696607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 127
(S127*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082432]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082432
AA Change: S127*
|
| SMART Domains |
Protein: ENSMUSP00000081013
Gene: ENSMUSG00000007682
AA Change: S127*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:T4_deiodinase
|
4 |
259 |
1.6e-119 |
PFAM |
|
Pfam:AhpC-TSA
|
78 |
237 |
1.2e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is highly expressed in brain, placenta and mammary gland. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. Knockout studies in mice suggest that this gene may play an important role in brown adipose tissue lipogenesis, auditory function, and bone formation. This protein is a selenoprotein containing the rare selenocysteine (Sec) amino acid at its active site, and may contain additional Sec residues. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display elevated thyroxine (T4) and thyroid-stimulating hormone levels, changes in the metabolism and excretion of iodothyronines, and impaired adaptive thermogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,843,230 (GRCm39) |
L1235Q |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,916,290 (GRCm39) |
T174A |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,255,130 (GRCm39) |
R733H |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arsk |
A |
T |
13: 76,223,105 (GRCm39) |
I164N |
probably benign |
Het |
| Bbs5 |
T |
A |
2: 69,487,300 (GRCm39) |
N194K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,723,119 (GRCm39) |
T133A |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,367 (GRCm39) |
P1010S |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,339,790 (GRCm39) |
N778K |
probably benign |
Het |
| Cept1 |
T |
C |
3: 106,412,594 (GRCm39) |
I240V |
possibly damaging |
Het |
| Crip3 |
A |
G |
17: 46,741,962 (GRCm39) |
R150G |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,085,299 (GRCm39) |
T320A |
probably benign |
Het |
| Dnai3 |
T |
C |
3: 145,801,161 (GRCm39) |
E99G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,626,935 (GRCm39) |
S325G |
probably benign |
Het |
| Exosc4 |
A |
G |
15: 76,211,813 (GRCm39) |
I41V |
probably benign |
Het |
| Glb1l3 |
C |
T |
9: 26,739,720 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm3072 |
T |
A |
14: 41,345,510 (GRCm39) |
D89V |
unknown |
Het |
| Gosr2 |
T |
C |
11: 103,577,508 (GRCm39) |
H79R |
probably damaging |
Het |
| Has2 |
T |
A |
15: 56,531,660 (GRCm39) |
T352S |
probably damaging |
Het |
| Insig1 |
T |
A |
5: 28,276,531 (GRCm39) |
C32* |
probably null |
Het |
| Klf9 |
A |
G |
19: 23,119,314 (GRCm39) |
S66G |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,623,665 (GRCm39) |
I263T |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,240,834 (GRCm39) |
G38R |
probably null |
Het |
| Negr1 |
A |
G |
3: 157,018,494 (GRCm39) |
T332A |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,787,884 (GRCm39) |
S1417P |
possibly damaging |
Het |
| Or52ab4 |
T |
C |
7: 102,987,945 (GRCm39) |
F228S |
probably benign |
Het |
| Or7e168 |
G |
A |
9: 19,720,412 (GRCm39) |
S266N |
probably benign |
Het |
| Pcgf3 |
C |
A |
5: 108,621,768 (GRCm39) |
H35Q |
probably damaging |
Het |
| Plppr5 |
A |
G |
3: 117,465,639 (GRCm39) |
I297V |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Prx |
A |
T |
7: 27,214,746 (GRCm39) |
Q85H |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,388,688 (GRCm39) |
M305R |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,954 (GRCm39) |
E995K |
probably damaging |
Het |
| Zfp90 |
A |
G |
8: 107,142,379 (GRCm39) |
R4G |
probably damaging |
Het |
|
| Other mutations in Dio2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02665:Dio2
|
APN |
12 |
90,696,427 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02832:Dio2
|
APN |
12 |
90,696,178 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0139:Dio2
|
UTSW |
12 |
90,696,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Dio2
|
UTSW |
12 |
90,704,845 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0908:Dio2
|
UTSW |
12 |
90,696,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1106:Dio2
|
UTSW |
12 |
90,704,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Dio2
|
UTSW |
12 |
90,696,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2099:Dio2
|
UTSW |
12 |
90,696,597 (GRCm39) |
makesense |
probably null |
|
|
R2101:Dio2
|
UTSW |
12 |
90,696,597 (GRCm39) |
makesense |
probably null |
|
|
R4615:Dio2
|
UTSW |
12 |
90,696,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Dio2
|
UTSW |
12 |
90,696,671 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7587:Dio2
|
UTSW |
12 |
90,696,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9367:Dio2
|
UTSW |
12 |
90,696,587 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Dio2
|
UTSW |
12 |
90,696,686 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGTGCTTCTTAACCTCAAAAG -3'
(R):5'- ACAGCAGCAGTGTGTTAGTG -3'
Sequencing Primer
(F):5'- GTGCTTCTTAACCTCAAAAGACAGAG -3'
(R):5'- CAGCAGTGTGTTAGTGTGCTAATTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation