Mutagenetix > Incidental Mutation

Incidental Mutation 'R1950:Scly'

217171

Institutional Source

Beutler Lab

Gene Symbol

Scly

Ensembl Gene

ENSMUSG00000026307

Gene Name

selenocysteine lyase

Synonyms

SCL, A930015N15Rik, Selenocysteine reductase, Scly2, Scly1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91226060-91248797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91233116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000122449 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027532
AA Change: T130A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000027532
Gene: ENSMUSG00000026307
AA Change: T130A

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: T127A

SMART Domains

Protein: ENSMUSP00000116382
Gene: ENSMUSG00000026307
AA Change: T127A

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	18	215	2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137074
AA Change: T76A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122449
Gene: ENSMUSG00000026307
AA Change: T76A

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	48	216	7.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142488
AA Change: T152A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000119979
Gene: ENSMUSG00000026307
AA Change: T152A

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	42	238	2.2e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142802

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147523
AA Change: T132A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114759
Gene: ENSMUSG00000026307
AA Change: T132A

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	22	249	2.5e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181737

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: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,010,677 (GRCm39)	N478S	probably damaging	Het
Als2	T	A	1: 59,224,760 (GRCm39)		probably null	Het
Ankfy1	A	G	11: 72,651,155 (GRCm39)	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 123,616,608 (GRCm39)	T2394A	probably damaging	Het
Axin1	G	C	17: 26,412,938 (GRCm39)	G780R	possibly damaging	Het
Carm1	A	T	9: 21,485,812 (GRCm39)	T127S	probably benign	Het
Ccdc73	T	C	2: 104,757,280 (GRCm39)	I81T	probably benign	Het
Cdh12	T	C	15: 21,237,965 (GRCm39)	Y67H	probably damaging	Het
Cfap65	C	A	1: 74,946,819 (GRCm39)	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,511,887 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,968 (GRCm39)	Y426C	probably damaging	Het
Clpp	A	G	17: 57,303,039 (GRCm39)		probably benign	Het
Clrn3	T	G	7: 135,115,813 (GRCm39)	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,774 (GRCm39)	M635R	probably damaging	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 61,043,863 (GRCm39)	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674 (GRCm39)	I154F	probably benign	Het
Dffa	C	A	4: 149,188,839 (GRCm39)	S44R	probably benign	Het
Ehbp1	T	A	11: 22,009,228 (GRCm39)	K930M	probably damaging	Het
Erc2	T	A	14: 27,634,857 (GRCm39)	S473T	probably damaging	Het
Fbxw24	A	T	9: 109,434,481 (GRCm39)	L373H	probably benign	Het
Fer1l4	T	C	2: 155,890,194 (GRCm39)	I244V	probably damaging	Het
Fgfr2	G	A	7: 129,800,211 (GRCm39)	T245M	probably damaging	Het
Garin1b	C	T	6: 29,335,815 (GRCm39)		probably null	Het
Gbp9	T	A	5: 105,229,112 (GRCm39)	M512L	probably benign	Het
Glg1	T	A	8: 111,892,271 (GRCm39)	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,078,141 (GRCm39)	D86G	possibly damaging	Het
Gm5622	T	C	14: 51,893,229 (GRCm39)	V52A	probably benign	Het
Gucy1b1	A	G	3: 81,952,716 (GRCm39)	V239A	probably benign	Het
Gzma	A	G	13: 113,230,463 (GRCm39)	L246P	probably damaging	Het
Hibadh	C	A	6: 52,533,448 (GRCm39)	A223S	probably benign	Het
Hydin	C	A	8: 111,336,619 (GRCm39)	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,721,820 (GRCm39)	N1198S	probably damaging	Het
Ivl	T	C	3: 92,479,420 (GRCm39)	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,701 (GRCm39)	D2037G	possibly damaging	Het
Kcna3	G	A	3: 106,944,988 (GRCm39)	C417Y	probably damaging	Het
Klra2	T	C	6: 131,207,078 (GRCm39)	N177S	probably benign	Het
Llgl2	T	C	11: 115,741,892 (GRCm39)	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,092,649 (GRCm39)	E230G	probably benign	Het
Magel2	C	A	7: 62,028,163 (GRCm39)	Q356K	possibly damaging	Het
Mcm6	A	G	1: 128,273,726 (GRCm39)	V368A	probably benign	Het
Myh8	G	A	11: 67,169,830 (GRCm39)	V50M	possibly damaging	Het
Myrf	A	T	19: 10,195,554 (GRCm39)	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or10ak16	G	A	4: 118,750,537 (GRCm39)	V86M	probably benign	Het
Or52i2	A	G	7: 102,319,684 (GRCm39)	M186V	probably benign	Het
Otud4	G	A	8: 80,372,961 (GRCm39)	R93H	probably damaging	Het
Pank4	T	A	4: 155,056,977 (GRCm39)	M390K	probably benign	Het
Pecam1	A	G	11: 106,576,029 (GRCm39)	V401A	probably damaging	Het
Prdm6	C	A	18: 53,669,796 (GRCm39)	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prpf8	A	G	11: 75,387,337 (GRCm39)	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,435,377 (GRCm39)	I395N	probably benign	Het
Rab27a	G	A	9: 72,982,751 (GRCm39)	G19R	probably damaging	Het
Ramacl	A	G	13: 67,055,269 (GRCm39)		probably benign	Het
Rrp12	A	G	19: 41,881,029 (GRCm39)	V134A	probably damaging	Het
Scube3	T	C	17: 28,383,274 (GRCm39)	S439P	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,388,233 (GRCm39)	F153S	probably damaging	Het
Slc25a30	T	G	14: 76,007,007 (GRCm39)	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,863,614 (GRCm39)	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Smr2	C	CT	5: 88,256,685 (GRCm39)		probably null	Het
Sp6	T	G	11: 96,912,940 (GRCm39)	S218A	probably benign	Het
Spata21	T	C	4: 140,838,716 (GRCm39)	V589A	probably damaging	Het
Sycp2	T	C	2: 178,044,593 (GRCm39)	I71V	probably benign	Het
Syne2	G	T	12: 75,999,644 (GRCm39)	G2347C	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,906,079 (GRCm39)	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,793,381 (GRCm39)	D216G	probably damaging	Het
Tprg1	T	A	16: 25,136,098 (GRCm39)	S30T	possibly damaging	Het
Trip12	A	T	1: 84,738,522 (GRCm39)	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633 (GRCm39)	L65P	probably damaging	Het
Ush2a	A	T	1: 188,487,382 (GRCm39)	N3050I	probably damaging	Het
Xpot	T	C	10: 121,455,053 (GRCm39)	I30V	probably benign	Het
Zfp944	A	G	17: 22,558,681 (GRCm39)	S189P	probably benign	Het
Zftraf1	A	G	15: 76,543,417 (GRCm39)		probably null	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
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
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'- CACTGGCAGCTTTGGTGAAG -3'
(R):5'- AGCTTTATCCATAACAGCTGAACG -3'

Sequencing Primer
(F):5'- CAGCTTTGGTGAAGGCTCTCTC -3'
(R):5'- GCCATCAGCTTCTGAAGAGG -3'

Posted On

2014-08-01