Mutagenetix > Incidental Mutation

Incidental Mutation 'R7887:Scly'

609093

Institutional Source

Beutler Lab

Gene Symbol

Scly

Ensembl Gene

ENSMUSG00000026307

Gene Name

selenocysteine lyase

Synonyms

SCL, Scly2, A930015N15Rik, Selenocysteine reductase, Scly1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91298338-91321075 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 91300641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027532] [ENSMUST00000137074] [ENSMUST00000142488] [ENSMUST00000145843] [ENSMUST00000147523] [ENSMUST00000154045]

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: 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: ENSMUST00000145843

SMART Domains

Protein: ENSMUSP00000116824
Gene: ENSMUSG00000026307

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	1	68	1.5e-15	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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,385,343	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,684,900	T834M	probably damaging	Het
Astn2	C	T	4: 65,644,866	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501	Y197H	probably benign	Het
Brdt	T	C	5: 107,359,933	S676P	possibly damaging	Het
Chrdl2	T	C	7: 100,029,250	V343A	possibly damaging	Het
Clcn3	A	T	8: 60,941,399	M59K	probably benign	Het
Cpne4	A	T	9: 105,032,791	N529I	probably damaging	Het
Crcp	G	T	5: 130,037,870	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,627,203	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,599,657	S118P	possibly damaging	Het
Egr3	A	G	14: 70,079,202	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,649,594		probably null	Het
Focad	T	G	4: 88,182,616	I313M	probably damaging	Het
Gm10272	C	T	10: 77,706,945	P107L	probably benign	Het
Gpr26	A	C	7: 131,966,973	I16L	probably benign	Het
Gpr39	C	A	1: 125,677,542	T69K	probably damaging	Het
Hacl1	C	T	14: 31,634,227	G97S	probably damaging	Het
Idh3b	A	C	2: 130,281,758	D136E	probably damaging	Het
Irf6	G	A	1: 193,167,732	V321M	probably damaging	Het
Klrg2	T	A	6: 38,636,571	T166S	probably damaging	Het
Lnx2	T	C	5: 147,019,043	I648V	probably damaging	Het
Mecr	A	G	4: 131,860,866		probably null	Het
Mnat1	T	A	12: 73,188,191	S205T	probably benign	Het
Mpnd	G	A	17: 56,011,097	G204D	probably benign	Het
Myh7	C	T	14: 54,983,662	E935K	possibly damaging	Het
Nid1	G	T	13: 13,499,733	R899L	possibly damaging	Het
Nisch	C	T	14: 31,176,695	W664*	probably null	Het
Nudt6	C	T	3: 37,412,380	V157I	possibly damaging	Het
Olfr1156	T	C	2: 87,949,880	M118V	probably damaging	Het
Olfr573-ps1	A	C	7: 102,942,151	L142R	possibly damaging	Het
Olfr949-ps1	A	T	9: 39,364,879	M107L	unknown	Het
Onecut2	T	A	18: 64,340,975	M180K	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Phf11d	A	G	14: 59,359,580	Y57H	probably damaging	Het
Prkaca	T	C	8: 83,986,895	V99A	probably benign	Het
Rnf144b	T	A	13: 47,239,811	C209S	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sphkap	T	C	1: 83,277,412	Y872C	probably benign	Het
Ssh1	C	T	5: 113,961,349		probably null	Het
Strap	T	G	6: 137,739,809	L129V	possibly damaging	Het
Sympk	T	C	7: 19,034,439	I111T	possibly damaging	Het
Tprn	C	A	2: 25,264,012	A442E	probably damaging	Het
Tsen34	T	C	7: 3,694,708	L36P	probably damaging	Het
Ubr4	T	C	4: 139,407,810	F818L	probably damaging	Het
Uggt1	T	C	1: 36,208,034	Y294C	probably damaging	Het
Usp20	A	G	2: 31,020,894	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,474,786	I57F	probably damaging	Het
Wdr64	C	T	1: 175,785,545	A662V	not run	Het

Other mutations in Scly

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02314:Scly	APN	1	91319041	missense	probably benign	0.00
IGL02690:Scly	APN	1	91305325	missense	probably benign
R0597:Scly	UTSW	1	91309833	missense	probably damaging	1.00
R1782:Scly	UTSW	1	91308380	missense	probably damaging	1.00
R1950:Scly	UTSW	1	91305394	missense	probably benign	0.08
R1978:Scly	UTSW	1	91320169	missense	probably damaging	0.98
R2290:Scly	UTSW	1	91298450	critical splice donor site	probably null
R3861:Scly	UTSW	1	91302851	utr 3 prime	probably benign
R4508:Scly	UTSW	1	91308325	missense	possibly damaging	0.95
R4876:Scly	UTSW	1	91320128	missense	probably damaging	0.98
R7035:Scly	UTSW	1	91308403	missense	probably damaging	0.98
R7701:Scly	UTSW	1	91308308	missense
R8079:Scly	UTSW	1	91308367	missense	probably damaging	0.99
R8501:Scly	UTSW	1	91319076	missense	probably damaging	1.00
R8828:Scly	UTSW	1	91317108	missense	possibly damaging	0.83
R9533:Scly	UTSW	1	91300691	intron	probably benign
X0021:Scly	UTSW	1	91320106	missense	probably damaging	0.98
Z1176:Scly	UTSW	1	91305313	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGACCCTCACTGTGGTCC -3'
(R):5'- TGAAAGTCCACCCCATTCCC -3'

Sequencing Primer
(F):5'- CTGTGGTCCCCCAAAAGAGTATTG -3'
(R):5'- ACACGGATTCTCAGTTTAGGTAGCC -3'

Posted On

2019-12-20