Incidental Mutation 'R4508:Scly'
| ID |
331053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scly
|
| Ensembl Gene |
ENSMUSG00000026307 |
| Gene Name |
selenocysteine lyase |
| Synonyms |
SCL, A930015N15Rik, Selenocysteine reductase, Scly2, Scly1 |
| MMRRC Submission |
041757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R4508 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91226060-91248797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91236047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 100
(V100I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027532]
[ENSMUST00000137074]
[ENSMUST00000142488]
[ENSMUST00000147523]
[ENSMUST00000154045]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027532
AA Change: V154I
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027532
Gene: ENSMUSG00000026307
AA Change: V154I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
20 |
417 |
1.7e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123651
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124832
AA Change: V158I
|
| SMART Domains |
Protein: ENSMUSP00000116382
Gene: ENSMUSG00000026307
AA Change: V158I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
18 |
215 |
2e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137074
AA Change: V100I
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122449
Gene: ENSMUSG00000026307
AA Change: V100I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
48 |
216 |
7.4e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142488
AA Change: V176I
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119979
Gene: ENSMUSG00000026307
AA Change: V176I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
42 |
238 |
2.2e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142802
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147523
AA Change: V156I
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114759
Gene: ENSMUSG00000026307
AA Change: V156I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
22 |
249 |
2.5e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153621
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154045
|
| SMART Domains |
Protein: ENSMUSP00000137796
Gene: ENSMUSG00000026307
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3A9Z|B
|
1 |
57 |
5e-30 |
PDB |
|
SCOP:d1eg5a_
|
20 |
57 |
3e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.4084 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice fed a selenium-deficient diet exhibit mild learning impairment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,380 (GRCm39) |
R540G |
probably benign |
Het |
| Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
| Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
| Cnnm2 |
G |
A |
19: 46,865,709 (GRCm39) |
D766N |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
| Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
| Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
| Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
| Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
| Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
| Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
| Kcnc1 |
C |
T |
7: 46,077,712 (GRCm39) |
P505S |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
| Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
| Lilra6 |
G |
T |
7: 3,915,028 (GRCm39) |
Y455* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,251,317 (GRCm39) |
Q74* |
probably null |
Het |
| Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,138 (GRCm39) |
V30E |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
| Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,744,456 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
| Sp1 |
A |
C |
15: 102,317,747 (GRCm39) |
Q422P |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
possibly damaging |
Het |
|
| Other mutations in Scly |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02314:Scly
|
APN |
1 |
91,246,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02690:Scly
|
APN |
1 |
91,233,047 (GRCm39) |
missense |
probably benign |
|
|
R0597:Scly
|
UTSW |
1 |
91,237,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Scly
|
UTSW |
1 |
91,236,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Scly
|
UTSW |
1 |
91,233,116 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1978:Scly
|
UTSW |
1 |
91,247,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2290:Scly
|
UTSW |
1 |
91,226,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3861:Scly
|
UTSW |
1 |
91,230,573 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4876:Scly
|
UTSW |
1 |
91,247,850 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7035:Scly
|
UTSW |
1 |
91,236,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7701:Scly
|
UTSW |
1 |
91,236,030 (GRCm39) |
missense |
|
|
|
R7887:Scly
|
UTSW |
1 |
91,228,363 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8079:Scly
|
UTSW |
1 |
91,236,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8501:Scly
|
UTSW |
1 |
91,246,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Scly
|
UTSW |
1 |
91,244,830 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9533:Scly
|
UTSW |
1 |
91,228,413 (GRCm39) |
intron |
probably benign |
|
|
X0021:Scly
|
UTSW |
1 |
91,247,828 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Scly
|
UTSW |
1 |
91,233,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACTGCTAATGTGTCACCTAAG -3'
(R):5'- ATCCATGTCAAGCTCCTGCC -3'
Sequencing Primer
(F):5'- GTGAGGCTAACTTCCTGTAGCTAC -3'
(R):5'- GTCAAGCTCCTGCCACCCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation