Incidental Mutation 'R2290:Scly'
ID |
244239 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scly
|
Ensembl Gene |
ENSMUSG00000026307 |
Gene Name |
selenocysteine lyase |
Synonyms |
SCL, A930015N15Rik, Selenocysteine reductase, Scly2, Scly1 |
MMRRC Submission |
040289-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R2290 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
91226060-91248797 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 91226172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027532]
[ENSMUST00000027532]
[ENSMUST00000137074]
[ENSMUST00000142488]
[ENSMUST00000142488]
[ENSMUST00000142488]
[ENSMUST00000142488]
[ENSMUST00000147523]
[ENSMUST00000147523]
[ENSMUST00000147523]
[ENSMUST00000147523]
[ENSMUST00000154045]
[ENSMUST00000154045]
[ENSMUST00000145843]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000027532
|
SMART Domains |
Protein: ENSMUSP00000027532 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
20 |
417 |
1.7e-58 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000027532
|
SMART Domains |
Protein: ENSMUSP00000027532 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
20 |
417 |
1.7e-58 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123651
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124832
|
SMART Domains |
Protein: ENSMUSP00000116382 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
18 |
215 |
2e-25 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124832
|
SMART Domains |
Protein: ENSMUSP00000116382 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
18 |
215 |
2e-25 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124832
|
SMART Domains |
Protein: ENSMUSP00000116382 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
18 |
215 |
2e-25 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124832
|
SMART Domains |
Protein: ENSMUSP00000116382 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
18 |
215 |
2e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137074
|
SMART Domains |
Protein: ENSMUSP00000122449 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
48 |
216 |
7.4e-30 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142488
|
SMART Domains |
Protein: ENSMUSP00000119979 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
42 |
238 |
2.2e-32 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142488
|
SMART Domains |
Protein: ENSMUSP00000119979 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
42 |
238 |
2.2e-32 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142488
|
SMART Domains |
Protein: ENSMUSP00000119979 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
42 |
238 |
2.2e-32 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142488
|
SMART Domains |
Protein: ENSMUSP00000119979 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
42 |
238 |
2.2e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142802
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147523
|
SMART Domains |
Protein: ENSMUSP00000114759 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
22 |
249 |
2.5e-42 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147523
|
SMART Domains |
Protein: ENSMUSP00000114759 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
22 |
249 |
2.5e-42 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147523
|
SMART Domains |
Protein: ENSMUSP00000114759 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
22 |
249 |
2.5e-42 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147523
|
SMART Domains |
Protein: ENSMUSP00000114759 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
22 |
249 |
2.5e-42 |
PFAM |
|
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 |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153621
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181737
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145843
|
SMART Domains |
Protein: ENSMUSP00000116824 Gene: ENSMUSG00000026307
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
1 |
68 |
1.5e-15 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (73/73) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
T |
C |
10: 83,363,177 (GRCm39) |
D62G |
probably damaging |
Het |
Ambp |
T |
C |
4: 63,061,924 (GRCm39) |
Y335C |
probably damaging |
Het |
Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
Asb13 |
G |
A |
13: 3,699,418 (GRCm39) |
G206D |
probably damaging |
Het |
Ccdc7b |
A |
G |
8: 129,857,587 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
A |
T |
8: 123,586,056 (GRCm39) |
N145I |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,720,423 (GRCm39) |
I2565T |
probably damaging |
Het |
Cfap43 |
A |
T |
19: 47,761,574 (GRCm39) |
M840K |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,117,948 (GRCm39) |
V331A |
possibly damaging |
Het |
Cnnm1 |
A |
G |
19: 43,479,941 (GRCm39) |
T829A |
probably benign |
Het |
Col24a1 |
G |
A |
3: 145,218,950 (GRCm39) |
G1457E |
probably damaging |
Het |
D6Ertd527e |
A |
G |
6: 87,088,527 (GRCm39) |
N230S |
unknown |
Het |
Dll1 |
T |
C |
17: 15,595,010 (GRCm39) |
D89G |
probably benign |
Het |
Dst |
T |
A |
1: 34,268,281 (GRCm39) |
V2901E |
probably damaging |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Efl1 |
A |
T |
7: 82,426,878 (GRCm39) |
K1125N |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,721,688 (GRCm39) |
F437L |
probably benign |
Het |
Eqtn |
GTTCTTCTTC |
GTTCTTC |
4: 94,815,179 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
Gm38999 |
A |
G |
7: 43,077,123 (GRCm39) |
E5G |
probably benign |
Het |
Gm5828 |
C |
T |
1: 16,838,568 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
T |
C |
2: 174,141,803 (GRCm39) |
F717L |
probably benign |
Het |
H6pd |
T |
A |
4: 150,066,338 (GRCm39) |
S683C |
probably damaging |
Het |
Il23r |
G |
A |
6: 67,400,845 (GRCm39) |
T495I |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,324,326 (GRCm39) |
N135D |
probably damaging |
Het |
Kcns2 |
T |
A |
15: 34,838,655 (GRCm39) |
L6Q |
possibly damaging |
Het |
Khdrbs3 |
C |
T |
15: 68,901,610 (GRCm39) |
R132C |
probably damaging |
Het |
Kif2b |
A |
G |
11: 91,466,522 (GRCm39) |
V587A |
probably benign |
Het |
Kng1 |
A |
T |
16: 22,897,875 (GRCm39) |
H425L |
possibly damaging |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lrrc8e |
T |
C |
8: 4,281,770 (GRCm39) |
M35T |
probably damaging |
Het |
Med12l |
A |
G |
3: 59,152,359 (GRCm39) |
N1048S |
probably damaging |
Het |
Mex3c |
A |
C |
18: 73,723,764 (GRCm39) |
N619T |
probably damaging |
Het |
Mfsd4b1 |
G |
A |
10: 39,879,327 (GRCm39) |
T190I |
probably damaging |
Het |
Ncam1 |
A |
G |
9: 49,434,951 (GRCm39) |
|
probably benign |
Het |
Nlrp6 |
G |
A |
7: 140,502,076 (GRCm39) |
G133S |
probably damaging |
Het |
Oplah |
A |
G |
15: 76,186,925 (GRCm39) |
V630A |
probably benign |
Het |
Or1e26 |
G |
T |
11: 73,479,745 (GRCm39) |
A273D |
probably benign |
Het |
Or2y1 |
A |
G |
11: 49,385,857 (GRCm39) |
M166V |
probably benign |
Het |
Or5ak24 |
C |
T |
2: 85,260,544 (GRCm39) |
V210M |
possibly damaging |
Het |
Or8g36 |
A |
G |
9: 39,422,974 (GRCm39) |
L14P |
possibly damaging |
Het |
Pcnx2 |
A |
T |
8: 126,604,334 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,391,646 (GRCm39) |
T1571S |
probably benign |
Het |
Pramel13 |
T |
A |
4: 144,121,269 (GRCm39) |
T252S |
probably benign |
Het |
Pramel13 |
G |
T |
4: 144,121,692 (GRCm39) |
H111N |
probably benign |
Het |
Prr22 |
T |
G |
17: 57,078,884 (GRCm39) |
F346V |
probably benign |
Het |
Prr30 |
T |
C |
14: 101,436,211 (GRCm39) |
N117S |
possibly damaging |
Het |
Ptgfrn |
A |
G |
3: 100,984,677 (GRCm39) |
S172P |
possibly damaging |
Het |
Ptprc |
C |
T |
1: 138,038,926 (GRCm39) |
V364I |
probably benign |
Het |
Ptprz1 |
T |
C |
6: 23,000,990 (GRCm39) |
S1027P |
probably damaging |
Het |
Rinl |
T |
C |
7: 28,491,696 (GRCm39) |
V83A |
probably benign |
Het |
Ros1 |
A |
T |
10: 51,994,477 (GRCm39) |
S1268T |
probably damaging |
Het |
Slc25a1 |
C |
T |
16: 17,743,712 (GRCm39) |
V186M |
possibly damaging |
Het |
Stk36 |
T |
G |
1: 74,665,303 (GRCm39) |
|
probably benign |
Het |
Syn2 |
A |
G |
6: 115,251,190 (GRCm39) |
T449A |
possibly damaging |
Het |
Tecpr1 |
T |
C |
5: 144,150,881 (GRCm39) |
D309G |
probably damaging |
Het |
Tent4b |
T |
C |
8: 88,978,603 (GRCm39) |
S435P |
probably damaging |
Het |
Tns2 |
T |
A |
15: 102,020,458 (GRCm39) |
Y775N |
probably damaging |
Het |
Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
Ttl |
G |
A |
2: 128,923,190 (GRCm39) |
G177D |
possibly damaging |
Het |
Twf1 |
A |
G |
15: 94,484,400 (GRCm39) |
S41P |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,112,625 (GRCm39) |
T2174M |
probably damaging |
Het |
Vangl2 |
T |
A |
1: 171,836,113 (GRCm39) |
K340* |
probably null |
Het |
Vmn2r72 |
T |
A |
7: 85,387,549 (GRCm39) |
T672S |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,236,187 (GRCm39) |
D47G |
probably damaging |
Het |
Zc3h12d |
A |
G |
10: 7,743,223 (GRCm39) |
H331R |
probably benign |
Het |
Zfa-ps |
T |
C |
10: 52,421,112 (GRCm39) |
|
noncoding transcript |
Het |
Zfp141 |
A |
T |
7: 42,124,649 (GRCm39) |
C608S |
probably damaging |
Het |
Zfp422 |
A |
G |
6: 116,603,603 (GRCm39) |
I132T |
possibly damaging |
Het |
Zfp652 |
A |
G |
11: 95,640,849 (GRCm39) |
Y258C |
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 |
R3861:Scly
|
UTSW |
1 |
91,230,573 (GRCm39) |
utr 3 prime |
probably benign |
|
R4508:Scly
|
UTSW |
1 |
91,236,047 (GRCm39) |
missense |
possibly damaging |
0.95 |
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'- CTCACAGATTGGCCAAAGCG -3'
(R):5'- TTCCAACCTCCAGGAAGAGC -3'
Sequencing Primer
(F):5'- TTGGCCAAAGCGCGAAG -3'
(R):5'- ATTCCCTGGGAAGAAGCCC -3'
|
Posted On |
2014-10-30 |