Incidental Mutation 'R3925:Selenoi'
| ID |
308238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selenoi
|
| Ensembl Gene |
ENSMUSG00000075703 |
| Gene Name |
selenoprotein I |
| Synonyms |
D5Wsu178e, C79563, 4933402G07Rik, Ept1 |
| MMRRC Submission |
040916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
R3925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30437579-30477425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30461086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 107
(D107E)
|
| 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: D82E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117343
Gene: ENSMUSG00000075703
AA Change: D82E
| 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: D107E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118368
Gene: ENSMUSG00000075703
AA Change: D107E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,726,891 (GRCm39) |
T487I |
possibly damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Eif4e |
G |
A |
3: 138,261,198 (GRCm39) |
G164D |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,343,169 (GRCm39) |
R4565Q |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,923,709 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Ms4a2 |
A |
G |
19: 11,596,312 (GRCm39) |
M139T |
probably benign |
Het |
| Nr2e3 |
C |
T |
9: 59,855,716 (GRCm39) |
R213H |
probably damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,652 (GRCm39) |
H173L |
probably benign |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,718 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,869,596 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,572,380 (GRCm39) |
L253P |
probably damaging |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Synrg |
C |
T |
11: 83,931,725 (GRCm39) |
P1321S |
probably benign |
Het |
| Trgv7 |
A |
G |
13: 19,362,644 (GRCm39) |
Y111C |
probably damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,392 (GRCm39) |
Y116C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,293,640 (GRCm39) |
F245I |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,980,128 (GRCm39) |
H632R |
probably damaging |
Het |
| Zfp735 |
T |
C |
11: 73,601,950 (GRCm39) |
I298T |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,496,002 (GRCm39) |
Y13F |
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 |
|
R4540:Selenoi
|
UTSW |
5 |
30,461,085 (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'- AGAGCTTGAGAGTTCGTGCC -3'
(R):5'- TCTCCCAGTGAGACAGGATAAAAG -3'
Sequencing Primer
(F):5'- AGCTCCTGGGAATTCAACG -3'
(R):5'- CCCAGTGAGACAGGATAAAAGAAAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation