Incidental Mutation 'R4540:Selenoi'
| ID |
333484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selenoi
|
| Ensembl Gene |
ENSMUSG00000075703 |
| Gene Name |
selenoprotein I |
| Synonyms |
D5Wsu178e, C79563, 4933402G07Rik, Ept1 |
| MMRRC Submission |
041776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
R4540 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30437579-30477425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30461085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 107
(D107G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132404]
[ENSMUST00000145167]
[ENSMUST00000145858]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132404
AA Change: D82G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117343
Gene: ENSMUSG00000075703
AA Change: D82G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
46 |
188 |
1.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138001
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145167
AA Change: D107G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118368
Gene: ENSMUSG00000075703
AA Change: D107G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
48 |
129 |
1.8e-16 |
PFAM |
|
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145858
|
| Meta Mutation Damage Score |
0.9560 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
| Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
| Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
| Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
| Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
| Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
| Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
| Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
| Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
| Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
| Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
probably damaging |
Het |
|
| Other mutations in Selenoi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Selenoi
|
APN |
5 |
30,461,222 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01645:Selenoi
|
APN |
5 |
30,462,821 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03136:Selenoi
|
APN |
5 |
30,462,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03232:Selenoi
|
APN |
5 |
30,461,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Selenoi
|
UTSW |
5 |
30,471,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1750:Selenoi
|
UTSW |
5 |
30,462,771 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3767:Selenoi
|
UTSW |
5 |
30,461,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3925:Selenoi
|
UTSW |
5 |
30,461,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Selenoi
|
UTSW |
5 |
30,457,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Selenoi
|
UTSW |
5 |
30,471,926 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7613:Selenoi
|
UTSW |
5 |
30,471,926 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8857:Selenoi
|
UTSW |
5 |
30,461,160 (GRCm39) |
nonsense |
probably null |
|
|
R9027:Selenoi
|
UTSW |
5 |
30,437,607 (GRCm39) |
unclassified |
probably benign |
|
|
R9696:Selenoi
|
UTSW |
5 |
30,453,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Selenoi
|
UTSW |
5 |
30,457,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCGTGCCCAACTTGGAG -3'
(R):5'- TCTCCCAGTGAGACAGGATAAAAG -3'
Sequencing Primer
(F):5'- AGCTCCTGGGAATTCAACG -3'
(R):5'- CCCAGTGAGACAGGATAAAAGAAAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation