Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03006:Sephs2'

407552

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sephs2

Ensembl Gene

ENSMUSG00000049091

Gene Name

selenophosphate synthetase 2

Synonyms

Sps2, Ysg3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

IGL03006

Quality Score

Status

Chromosome

Chromosomal Location

126871051-126873227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126872206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 296 (F296L)

Ref Sequence

ENSEMBL: ENSMUSP00000081009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082428]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082428
AA Change: F296L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081009
Gene: ENSMUSG00000049091
AA Change: F296L

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
low complexity region	91	105	N/A	INTRINSIC
Pfam:AIRS	118	234	1e-10	PFAM
Pfam:AIRS_C	246	421	2.3e-30	PFAM
low complexity region	433	452	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206759

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine (Sec) that is co-translationally incorporated into selenoproteins at in-frame UGA codons, which normally signal translation termination. This protein itself contains a Sec residue in its predicted active site. The 3' UTR of this gene has a stem-loop secondary structure called a selenocysteine insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,718,671 (GRCm39)	S21C	probably damaging	Het
2210408I21Rik	T	C	13: 77,471,891 (GRCm39)		probably null	Het
Abcc3	T	C	11: 94,259,421 (GRCm39)	D340G	probably benign	Het
Adamts17	G	T	7: 66,728,095 (GRCm39)	R879L	possibly damaging	Het
Adissp	A	C	2: 130,993,634 (GRCm39)	D22E	probably damaging	Het
Cacna1f	C	A	X: 7,493,142 (GRCm39)	T1275K	probably damaging	Het
Csmd2	T	A	4: 128,374,558 (GRCm39)		probably benign	Het
Dll1	C	T	17: 15,593,854 (GRCm39)	R171Q	probably benign	Het
Dnm1	T	A	2: 32,243,133 (GRCm39)	D30V	possibly damaging	Het
Fam184a	G	A	10: 53,574,793 (GRCm39)	S216L	probably damaging	Het
Fbxo33	G	A	12: 59,251,105 (GRCm39)	A470V	probably benign	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Ighv7-1	A	T	12: 113,860,145 (GRCm39)	S82R	probably damaging	Het
Klk1b4	A	G	7: 43,861,019 (GRCm39)	I221V	probably benign	Het
Lama3	T	C	18: 12,601,425 (GRCm39)		probably benign	Het
Lrch1	A	G	14: 75,051,060 (GRCm39)	L359P	probably damaging	Het
Mapk8ip3	T	C	17: 25,120,489 (GRCm39)	T882A	probably benign	Het
Med12	C	T	X: 100,321,684 (GRCm39)	R456W	probably damaging	Het
Mms22l	T	C	4: 24,521,253 (GRCm39)	S267P	probably damaging	Het
Mtpap	G	A	18: 4,375,721 (GRCm39)	G34R	possibly damaging	Het
Nf1	G	A	11: 79,436,257 (GRCm39)	D1966N	probably damaging	Het
Nlrp9c	G	A	7: 26,071,507 (GRCm39)	T867I	probably damaging	Het
Nrap	C	T	19: 56,335,596 (GRCm39)	V941I	probably benign	Het
Or5k1b	T	A	16: 58,581,511 (GRCm39)	K9N	probably benign	Het
Pcdh10	A	G	3: 45,333,937 (GRCm39)	I84V	probably damaging	Het
Polr3d	T	A	14: 70,678,603 (GRCm39)		probably null	Het
Prkar2a	G	T	9: 108,617,640 (GRCm39)	V233L	probably benign	Het
Prl4a1	T	C	13: 28,207,359 (GRCm39)	V211A	probably damaging	Het
Qpct	T	C	17: 79,378,151 (GRCm39)	V107A	probably benign	Het
Rai1	T	C	11: 60,079,031 (GRCm39)	S1032P	possibly damaging	Het
Rims1	G	T	1: 22,367,178 (GRCm39)	T1113K	probably damaging	Het
Rxra	C	T	2: 27,649,657 (GRCm39)	T454I	probably damaging	Het
S100z	T	C	13: 95,615,127 (GRCm39)	I13V	probably damaging	Het
Scp2	T	C	4: 107,948,477 (GRCm39)	K167E	probably benign	Het
Setd1b	A	G	5: 123,286,514 (GRCm39)	E520G	unknown	Het
Slc28a2	G	A	2: 122,283,019 (GRCm39)	V308M	possibly damaging	Het
Smarcad1	T	A	6: 65,060,873 (GRCm39)	I451K	probably benign	Het
Tarbp1	C	T	8: 127,170,881 (GRCm39)	D1040N	probably damaging	Het
Tdrd6	T	C	17: 43,936,323 (GRCm39)	D1575G	probably damaging	Het
Tll1	T	A	8: 64,527,251 (GRCm39)		probably benign	Het
Tsks	A	T	7: 44,600,198 (GRCm39)		probably benign	Het
Ttc1	A	T	11: 43,636,147 (GRCm39)	M32K	probably benign	Het
Txlnb	C	T	10: 17,714,723 (GRCm39)	A385V	probably damaging	Het
Zc4h2	T	C	X: 94,687,019 (GRCm39)	H98R	probably damaging	Het

Other mutations in Sephs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01694:Sephs2	APN	7	126,872,259 (GRCm39)	missense	probably benign	0.43
IGL03295:Sephs2	APN	7	126,871,941 (GRCm39)	missense	possibly damaging	0.60
R1381:Sephs2	UTSW	7	126,872,139 (GRCm39)	missense	probably damaging	1.00
R2259:Sephs2	UTSW	7	126,872,649 (GRCm39)	missense	possibly damaging	0.80
R4876:Sephs2	UTSW	7	126,872,219 (GRCm39)	nonsense	probably null
R5054:Sephs2	UTSW	7	126,872,564 (GRCm39)	missense	probably benign	0.05
R5432:Sephs2	UTSW	7	126,872,977 (GRCm39)	missense	probably damaging	1.00
R6197:Sephs2	UTSW	7	126,872,073 (GRCm39)	missense	probably damaging	1.00
R6237:Sephs2	UTSW	7	126,873,118 (GRCm39)	start gained	probably benign
R7138:Sephs2	UTSW	7	126,872,187 (GRCm39)	missense	possibly damaging	0.96
R7181:Sephs2	UTSW	7	126,872,992 (GRCm39)	missense	probably benign
R7601:Sephs2	UTSW	7	126,872,118 (GRCm39)	missense	probably damaging	1.00
R7685:Sephs2	UTSW	7	126,872,506 (GRCm39)	missense	possibly damaging	0.46
R8941:Sephs2	UTSW	7	126,872,206 (GRCm39)	missense	probably benign
R9263:Sephs2	UTSW	7	126,872,122 (GRCm39)	missense	probably damaging	1.00
R9526:Sephs2	UTSW	7	126,872,346 (GRCm39)	missense	probably damaging	1.00
X0061:Sephs2	UTSW	7	126,872,727 (GRCm39)	missense	probably benign	0.35

Posted On

2016-08-02