Mutagenetix > Incidental Mutation

Incidental Mutation 'R0063:Sephs1'

43761

Institutional Source

Beutler Lab

Gene Symbol

Sephs1

Ensembl Gene

ENSMUSG00000026662

Gene Name

selenophosphate synthetase 1

Synonyms

1110046B24Rik, SPS1

MMRRC Submission

038355-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R0063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4886375-4915368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4904371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 250 (T250A)

Ref Sequence

ENSEMBL: ENSMUSP00000110671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027973] [ENSMUST00000115019]

AlphaFold

Q8BH69

Predicted Effect

probably benign
Transcript: ENSMUST00000027973
AA Change: T250A

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

SMART Domains

Protein: ENSMUSP00000027973
Gene: ENSMUSG00000026662
AA Change: T250A

Domain	Start	End	E-Value	Type
Pfam:AIRS	60	180	1.4e-11	PFAM
Pfam:AIRS_C	192	368	3.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115019
AA Change: T250A

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

SMART Domains

Protein: ENSMUSP00000110671
Gene: ENSMUSG00000026662
AA Change: T250A

Domain	Start	End	E-Value	Type
Pfam:AIRS	67	164	8.4e-13	PFAM
Pfam:AIRS_C	192	368	7.8e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140045

Meta Mutation Damage Score

0.0952

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,678,912 (GRCm39)	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,333,477 (GRCm39)		probably benign	Het
Acss1	T	C	2: 150,469,212 (GRCm39)	T435A	probably damaging	Het
Aoc2	T	A	11: 101,216,897 (GRCm39)	S327T	probably damaging	Het
Arid5a	T	A	1: 36,357,645 (GRCm39)	Y252N	probably damaging	Het
AU040320	T	C	4: 126,733,465 (GRCm39)	Y662H	probably damaging	Het
B4gat1	T	A	19: 5,089,735 (GRCm39)	L244*	probably null	Het
Bcam	C	T	7: 19,500,773 (GRCm39)	V134I	probably benign	Het
Btbd16	A	T	7: 130,424,896 (GRCm39)	T426S	probably benign	Het
Btn1a1	C	T	13: 23,649,267 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,791,508 (GRCm39)		probably benign	Het
Capn8	T	A	1: 182,429,677 (GRCm39)	D299E	probably damaging	Het
Cdipt	G	A	7: 126,578,772 (GRCm39)	V160I	probably benign	Het
Cep164	A	G	9: 45,679,916 (GRCm39)	S1267P	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col3a1	T	C	1: 45,369,701 (GRCm39)		probably benign	Het
Cyb5r3	T	C	15: 83,046,137 (GRCm39)	T60A	probably benign	Het
Dgkb	T	G	12: 38,654,112 (GRCm39)	S744A	probably benign	Het
Dock2	T	A	11: 34,647,111 (GRCm39)		probably null	Het
Ece1	C	T	4: 137,675,892 (GRCm39)	T422M	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Elapor2	T	C	5: 9,490,709 (GRCm39)		probably benign	Het
Eml3	C	A	19: 8,915,842 (GRCm39)	A644D	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Foxp1	A	G	6: 98,921,684 (GRCm39)		probably benign	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Il17rd	G	A	14: 26,804,690 (GRCm39)	C88Y	probably damaging	Het
Il17rd	C	A	14: 26,804,691 (GRCm39)	C88*	probably null	Het
Ino80c	A	G	18: 24,239,681 (GRCm39)	F160S	probably damaging	Het
Ints8	T	C	4: 11,252,857 (GRCm39)	N75S	probably damaging	Het
Irf2bp1	C	T	7: 18,739,772 (GRCm39)	R471C	possibly damaging	Het
Irs1	T	A	1: 82,266,580 (GRCm39)	E545D	probably damaging	Het
Lama3	T	C	18: 12,661,762 (GRCm39)		probably benign	Het
Mast4	C	A	13: 103,470,723 (GRCm39)		probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Nat8f2	A	T	6: 85,844,815 (GRCm39)	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,596,811 (GRCm39)	V343F	possibly damaging	Het
Opn5	T	C	17: 42,907,517 (GRCm39)	S120G	probably damaging	Het
Pdk2	T	C	11: 94,923,306 (GRCm39)	H106R	probably benign	Het
Pkhd1	G	A	1: 20,282,174 (GRCm39)	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,392,633 (GRCm39)	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,327,247 (GRCm39)	T394S	probably benign	Het
Pnpla8	T	A	12: 44,329,615 (GRCm39)	C56S	probably damaging	Het
Prdm8	G	T	5: 98,332,453 (GRCm39)	R118L	probably damaging	Het
Prkce	T	C	17: 86,789,539 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,139,763 (GRCm39)	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,867,614 (GRCm39)		probably benign	Het
Rnh1	A	T	7: 140,744,109 (GRCm39)		probably null	Het
Rtn4	T	A	11: 29,655,527 (GRCm39)		probably benign	Het
Slc2a2	T	C	3: 28,771,589 (GRCm39)	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,870,011 (GRCm39)		probably null	Het
Tdpoz1	A	T	3: 93,578,121 (GRCm39)	M221K	probably benign	Het
Tgm7	G	T	2: 120,924,577 (GRCm39)	H533Q	probably benign	Het
Timm29	C	A	9: 21,504,304 (GRCm39)	A17E	probably benign	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tmem89	A	G	9: 108,743,880 (GRCm39)	N60S	probably benign	Het
Tpx2	A	G	2: 152,722,043 (GRCm39)	T212A	probably damaging	Het
Trio	G	T	15: 27,881,523 (GRCm39)		probably benign	Het
Tulp2	T	C	7: 45,170,284 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,244,542 (GRCm39)		probably benign	Het
Vmn2r5	T	A	3: 64,411,221 (GRCm39)	E449V	probably benign	Het
Vwa8	A	G	14: 79,401,656 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,339,427 (GRCm39)	D556G	probably damaging	Het
Xrn1	T	C	9: 95,851,588 (GRCm39)	L202P	probably damaging	Het
Zfp354a	A	T	11: 50,960,398 (GRCm39)	H203L	probably damaging	Het
Zfp53	A	C	17: 21,728,367 (GRCm39)	R133S	probably benign	Het
Zfp787	C	T	7: 6,135,322 (GRCm39)		probably null	Het

Other mutations in Sephs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02525:Sephs1	APN	2	4,911,407 (GRCm39)	missense	probably damaging	0.99
IGL02654:Sephs1	APN	2	4,889,366 (GRCm39)	missense	probably benign	0.27
IGL03202:Sephs1	APN	2	4,894,074 (GRCm39)	missense	possibly damaging	0.88
IGL03368:Sephs1	APN	2	4,894,080 (GRCm39)	missense	possibly damaging	0.54
R0022:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0063:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0071:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0071:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0179:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0218:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0220:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0378:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0379:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0381:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0448:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0634:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R0706:Sephs1	UTSW	2	4,904,371 (GRCm39)	missense	probably benign
R2117:Sephs1	UTSW	2	4,904,351 (GRCm39)	missense	probably benign
R4496:Sephs1	UTSW	2	4,911,494 (GRCm39)	missense	probably benign	0.03
R4632:Sephs1	UTSW	2	4,901,571 (GRCm39)	missense	probably benign	0.04
R5150:Sephs1	UTSW	2	4,904,321 (GRCm39)	missense	possibly damaging	0.92
R5219:Sephs1	UTSW	2	4,896,501 (GRCm39)	missense	probably benign	0.22
R5593:Sephs1	UTSW	2	4,898,098 (GRCm39)	missense	probably benign
R5628:Sephs1	UTSW	2	4,894,018 (GRCm39)	missense	probably benign	0.04
R5716:Sephs1	UTSW	2	4,889,389 (GRCm39)	missense	probably benign	0.04
R5852:Sephs1	UTSW	2	4,904,339 (GRCm39)	missense	possibly damaging	0.48
R5864:Sephs1	UTSW	2	4,910,393 (GRCm39)	missense	probably damaging	0.99
R8021:Sephs1	UTSW	2	4,911,434 (GRCm39)	missense	probably benign	0.01
R8475:Sephs1	UTSW	2	4,893,821 (GRCm39)	splice site	probably null
R8709:Sephs1	UTSW	2	4,889,402 (GRCm39)	missense	probably benign
R9376:Sephs1	UTSW	2	4,910,469 (GRCm39)	missense	probably benign	0.00
R9453:Sephs1	UTSW	2	4,889,174 (GRCm39)	start gained	probably benign
R9679:Sephs1	UTSW	2	4,898,105 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCGAAGACAGAATGATAGGTCCC -3'
(R):5'- GTGTAGTCACCAGTCACGTTCTTCC -3'

Sequencing Primer
(F):5'- ATGCCCAGTCCTGGAAGATG -3'
(R):5'- AGTCACGTTCTTCCCCTGG -3'

Posted On

2013-05-29