Mutagenetix > Incidental Mutation

Incidental Mutation 'R5219:Sephs1'

402187

Institutional Source

Beutler Lab

Gene Symbol

Sephs1

Ensembl Gene

ENSMUSG00000026662

Gene Name

selenophosphate synthetase 1

Synonyms

1110046B24Rik, SPS1

MMRRC Submission

042792-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R5219 (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 4896501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 134 (D134G)

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: D134G

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027973
Gene: ENSMUSG00000026662
AA Change: D134G

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: D134G

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110671
Gene: ENSMUSG00000026662
AA Change: D134G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144565

Meta Mutation Damage Score

0.1331

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700063H04Rik	A	G	6: 122,369,299 (GRCm39)		noncoding transcript	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
A2m	A	G	6: 121,653,909 (GRCm39)	H1414R	possibly damaging	Het
A530064D06Rik	G	T	17: 48,470,518 (GRCm39)	D154E	possibly damaging	Het
Adam34	C	T	8: 44,104,461 (GRCm39)	D395N	probably benign	Het
Agl	A	G	3: 116,572,370 (GRCm39)	V195A	possibly damaging	Het
Aip	T	C	19: 4,165,180 (GRCm39)	I230V	probably benign	Het
Akap10	A	C	11: 61,813,617 (GRCm39)	S43A	probably benign	Het
Ap3d1	T	C	10: 80,545,651 (GRCm39)	E1026G	probably benign	Het
Arid5b	T	A	10: 68,113,940 (GRCm39)	K32N	probably benign	Het
Atp6v0a2	C	A	5: 124,790,249 (GRCm39)	N477K	probably damaging	Het
Atr	A	C	9: 95,763,291 (GRCm39)	I1062L	probably damaging	Het
Ces2h	T	C	8: 105,743,278 (GRCm39)	V171A	probably damaging	Het
Cnot2	A	G	10: 116,342,215 (GRCm39)		probably null	Het
Cpne3	A	T	4: 19,526,366 (GRCm39)	L391H	probably damaging	Het
Ctdp1	A	G	18: 80,490,675 (GRCm39)	L715P	probably damaging	Het
Dcxr	T	C	11: 120,616,314 (GRCm39)		probably benign	Het
Dhtkd1	C	T	2: 5,919,627 (GRCm39)	A585T	probably benign	Het
Elapor2	G	T	5: 9,511,486 (GRCm39)	W949C	probably damaging	Het
Fcgbp	G	A	7: 27,803,510 (GRCm39)	A1705T	probably damaging	Het
Galr1	A	T	18: 82,412,110 (GRCm39)	V252D	probably damaging	Het
Gm11677	A	G	11: 111,616,225 (GRCm39)		noncoding transcript	Het
Gp6	A	G	7: 4,371,998 (GRCm39)	V252A	possibly damaging	Het
Inpp4b	T	C	8: 82,610,785 (GRCm39)	V176A	probably benign	Het
Irx2	G	C	13: 72,779,420 (GRCm39)	A235P	probably damaging	Het
Klk1b11	G	A	7: 43,649,120 (GRCm39)	C219Y	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lars1	A	T	18: 42,367,785 (GRCm39)	V431E	probably benign	Het
Lmntd2	T	C	7: 140,791,387 (GRCm39)		probably null	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Ltbp4	A	T	7: 27,026,746 (GRCm39)	W500R	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Nadk	A	G	4: 155,668,711 (GRCm39)	I127M	probably benign	Het
Nxph1	T	A	6: 9,247,765 (GRCm39)	Y245*	probably null	Het
Or4a73	C	T	2: 89,421,046 (GRCm39)	V138I	probably benign	Het
Or7s1a-ps1	T	C	9: 18,843,990 (GRCm39)		probably benign	Het
Or8g34	G	T	9: 39,373,563 (GRCm39)	V276L	probably benign	Het
Or9k7	T	A	10: 130,046,793 (GRCm39)	T69S	possibly damaging	Het
Orc1	T	C	4: 108,447,966 (GRCm39)	F71S	probably damaging	Het
Pccb	A	T	9: 100,867,262 (GRCm39)	Y404*	probably null	Het
Pde2a	A	C	7: 101,153,811 (GRCm39)	I460L	probably damaging	Het
Ppp3cb	G	T	14: 20,578,263 (GRCm39)	C162*	probably null	Het
Prickle2	T	C	6: 92,353,511 (GRCm39)	S652G	probably benign	Het
Prss38	A	G	11: 59,266,309 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,821,813 (GRCm39)		probably benign	Het
Rgp1	C	T	4: 43,579,440 (GRCm39)	A16V	probably damaging	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scnn1g	T	A	7: 121,365,489 (GRCm39)	Y514N	probably damaging	Het
Slc38a3	A	G	9: 107,529,111 (GRCm39)		probably benign	Het
Slc6a1	A	T	6: 114,287,182 (GRCm39)	M388L	probably benign	Het
Ssbp3	A	T	4: 106,904,655 (GRCm39)	N350I	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Sult1e1	A	T	5: 87,726,445 (GRCm39)	I223N	probably damaging	Het
Tcf20	C	A	15: 82,740,582 (GRCm39)	G290C	probably damaging	Het
Tekt2	G	T	4: 126,216,057 (GRCm39)	T412K	possibly damaging	Het
Trabd2b	A	G	4: 114,460,007 (GRCm39)	T382A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	C	A	4: 139,204,543 (GRCm39)	Y4818*	probably null	Het
Vmn1r204	A	T	13: 22,741,069 (GRCm39)	R233S	probably damaging	Het
Vmn1r86	A	G	7: 12,836,382 (GRCm39)	Y165H	probably damaging	Het
Yaf2	A	C	15: 93,183,355 (GRCm39)	C152G	probably benign	Het
Zfp804b	A	T	5: 6,820,703 (GRCm39)	F751I	probably benign	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
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
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'- CCCACGGTCTTGGAGTTTTG -3'
(R):5'- TGGCACTAAGGGACTGTTAATATAG -3'

Sequencing Primer
(F):5'- GTGTGCCTCATTTTTGGTTCTACAG -3'
(R):5'- CTAAGGGACTGTTAATATAGCTAGGC -3'

Posted On

2016-07-22