Mutagenetix > Incidental Mutation

Incidental Mutation 'R2015:Sepsecs'

222758

Institutional Source

Beutler Lab

Gene Symbol

Sepsecs

Ensembl Gene

ENSMUSG00000029173

Gene Name

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

Synonyms

D5Ertd135e, SLA, SecS

MMRRC Submission

040024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R2015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52640087-52669708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52647624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 365 (Q365L)

Ref Sequence

ENSEMBL: ENSMUSP00000031069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031069] [ENSMUST00000126574] [ENSMUST00000150709]

AlphaFold

Q6P6M7

PDB Structure

Crystal structure of mouse selenocysteine synthase [X-RAY DIFFRACTION]
Crystal structure of mouse selenocysteine synthase, sodium iodide soak [X-RAY DIFFRACTION]
Crystal structure of mouse selenocysteine synthase, sodium phosphate soak [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000031069
AA Change: Q365L

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

SMART Domains

Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: Q365L

Domain	Start	End	E-Value	Type
Pfam:SepSecS	61	459	4e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126574

SMART Domains

Protein: ENSMUSP00000114413
Gene: ENSMUSG00000029173

Domain	Start	End	E-Value	Type
Pfam:SLA_LP_auto_ag	1	116	5.8e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150709

SMART Domains

Protein: ENSMUSP00000115477
Gene: ENSMUSG00000029173

Domain	Start	End	E-Value	Type
PDB:3HL2\|D	1	69	4e-39	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199425

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	A	11: 101,987,218 (GRCm38)	H35Q	probably damaging	Het
1700015F17Rik	T	A	5: 5,455,964 (GRCm38)	I106L	probably benign	Het
Abca9	A	T	11: 110,131,846 (GRCm38)	M1022K	probably benign	Het
Abhd4	T	A	14: 54,262,832 (GRCm38)	H74Q	probably damaging	Het
Actg1	A	G	11: 120,346,810 (GRCm38)	S49P	possibly damaging	Het
Adcy8	C	T	15: 64,767,878 (GRCm38)	G678S	probably benign	Het
Aire	T	C	10: 78,042,958 (GRCm38)	D85G	probably damaging	Het
Akr1c18	T	A	13: 4,145,309 (GRCm38)	D50V	probably damaging	Het
Ankrd13a	C	A	5: 114,792,109 (GRCm38)	A185E	probably damaging	Het
Apc	A	G	18: 34,315,591 (GRCm38)	I1813V	probably damaging	Het
Armc8	A	T	9: 99,483,105 (GRCm38)	C661*	probably null	Het
Bbs10	C	T	10: 111,300,855 (GRCm38)	Q610*	probably null	Het
Blm	T	C	7: 80,502,399 (GRCm38)	E600G	probably damaging	Het
Bpifb9a	T	C	2: 154,268,200 (GRCm38)		probably null	Het
Cdk14	T	C	5: 5,380,082 (GRCm38)	K15R	probably benign	Het
Cdr1	A	G	X: 61,184,814 (GRCm38)	F249L	probably benign	Het
Cep250	A	C	2: 155,981,453 (GRCm38)	H1009P	probably damaging	Het
Clasp2	A	G	9: 113,911,500 (GRCm38)	T495A	possibly damaging	Het
Col19a1	C	G	1: 24,559,753 (GRCm38)	G53A	unknown	Het
Cpne1	G	A	2: 156,078,388 (GRCm38)	R166C	probably damaging	Het
Dtx3l	G	A	16: 35,936,427 (GRCm38)	H129Y	probably benign	Het
Ercc3	A	G	18: 32,248,429 (GRCm38)	T433A	probably benign	Het
Gm9936	T	A	5: 114,857,421 (GRCm38)		probably benign	Het
Grina	T	C	15: 76,248,534 (GRCm38)	V167A	probably damaging	Het
Hcfc2	A	G	10: 82,738,980 (GRCm38)	N618D	probably benign	Het
Herpud1	T	C	8: 94,392,206 (GRCm38)	V196A	probably benign	Het
Hist3h2a	T	A	11: 58,954,928 (GRCm38)	L64Q	probably damaging	Het
Hlcs	A	G	16: 94,262,740 (GRCm38)	V487A	probably benign	Het
Hspa9	A	T	18: 34,946,648 (GRCm38)	Y243N	probably damaging	Het
Igll1	A	G	16: 16,863,775 (GRCm38)	S39P	probably benign	Het
Kdm5a	T	C	6: 120,431,990 (GRCm38)	S1545P	probably benign	Het
Klra8	C	A	6: 130,115,573 (GRCm38)	C255F	probably damaging	Het
Krtap4-6	A	T	11: 99,665,572 (GRCm38)	C110S	unknown	Het
Lef1	T	A	3: 131,111,587 (GRCm38)	I39N	probably damaging	Het
Lnpep	G	A	17: 17,579,063 (GRCm38)	T110I	probably damaging	Het
Lrp1	T	A	10: 127,540,694 (GRCm38)	T4282S	probably benign	Het
Lrp6	A	G	6: 134,480,374 (GRCm38)		probably null	Het
Ly6g5b	A	C	17: 35,114,678 (GRCm38)	S53A	possibly damaging	Het
M6pr	T	G	6: 122,313,373 (GRCm38)	N98K	probably damaging	Het
Mal2	T	C	15: 54,600,740 (GRCm38)	*176Q	probably null	Het
Mansc1	T	C	6: 134,610,311 (GRCm38)	D301G	possibly damaging	Het
March1	C	A	8: 66,121,821 (GRCm38)	N11K	probably damaging	Het
Mast3	T	A	8: 70,787,363 (GRCm38)	I338F	probably benign	Het
Mcm3	A	G	1: 20,803,580 (GRCm38)	L772P	probably damaging	Het
Mib2	C	T	4: 155,657,880 (GRCm38)	G176D	probably damaging	Het
Mier2	A	T	10: 79,541,202 (GRCm38)		probably null	Het
Mogs	C	T	6: 83,117,650 (GRCm38)	R483*	probably null	Het
Msl2	G	T	9: 101,075,251 (GRCm38)		probably benign	Het
Naa16	A	T	14: 79,345,059 (GRCm38)	M530K	probably damaging	Het
Nde1	A	T	16: 14,169,457 (GRCm38)		probably benign	Het
Ndufb10	T	C	17: 24,722,529 (GRCm38)		probably null	Het
Nhsl1	A	T	10: 18,511,592 (GRCm38)	R205W	probably damaging	Het
Npffr2	T	A	5: 89,582,892 (GRCm38)	I227N	probably damaging	Het
Nup210l	T	A	3: 90,185,432 (GRCm38)	L1231Q	probably damaging	Het
Olfr1355	T	C	10: 78,879,388 (GRCm38)	I72T	possibly damaging	Het
Olfr453	A	G	6: 42,744,850 (GRCm38)	E271G	probably damaging	Het
Pclo	C	A	5: 14,521,501 (GRCm38)	P300Q	probably damaging	Het
Pik3c2a	T	A	7: 116,350,931 (GRCm38)		probably null	Het
Plekha5	T	A	6: 140,534,564 (GRCm38)		probably null	Het
Pls1	A	G	9: 95,761,365 (GRCm38)	V527A	possibly damaging	Het
Ppfia2	T	C	10: 106,474,677 (GRCm38)	M15T	probably benign	Het
Prkd2	T	A	7: 16,847,677 (GRCm38)	C152*	probably null	Het
Ptprq	T	G	10: 107,667,422 (GRCm38)	K792Q	probably damaging	Het
Rbbp8	T	C	18: 11,720,624 (GRCm38)	M296T	probably benign	Het
Rfc3	T	C	5: 151,647,538 (GRCm38)		probably null	Het
Rnf17	A	G	14: 56,486,969 (GRCm38)	N1090S	probably benign	Het
Sash1	A	T	10: 8,729,413 (GRCm38)	V1071D	probably benign	Het
Sdsl	G	A	5: 120,463,153 (GRCm38)	T18M	probably damaging	Het
Sgta	A	T	10: 81,051,296 (GRCm38)	V45E	probably damaging	Het
Slc25a46	A	T	18: 31,609,725 (GRCm38)	H29Q	probably benign	Het
Slc2a8	A	C	2: 32,981,380 (GRCm38)	V136G	probably benign	Het
Smg7	A	T	1: 152,860,508 (GRCm38)	N166K	probably damaging	Het
Spata21	C	T	4: 141,107,329 (GRCm38)	Q505*	probably null	Het
Strn4	T	C	7: 16,833,028 (GRCm38)	S458P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,299,684 (GRCm38)	T248M	probably damaging	Het
Trabd	T	A	15: 89,084,726 (GRCm38)	M149K	possibly damaging	Het
Trpv3	A	T	11: 73,279,827 (GRCm38)	N178Y	probably damaging	Het
Try5	C	T	6: 41,314,651 (GRCm38)		probably null	Het
Tsg101	C	T	7: 46,908,904 (GRCm38)		probably null	Het
Ube3b	A	G	5: 114,411,149 (GRCm38)	E738G	probably damaging	Het
Unc13d	A	G	11: 116,068,755 (GRCm38)	S631P	probably damaging	Het
Unc5d	T	C	8: 28,758,979 (GRCm38)	T297A	probably damaging	Het
Usp18	A	T	6: 121,268,550 (GRCm38)	E1V	probably damaging	Het
Vapb	C	A	2: 173,771,598 (GRCm38)	P97T	probably benign	Het
Vmn1r33	T	A	6: 66,612,372 (GRCm38)	D66V	probably benign	Het
Vmn2r19	T	A	6: 123,315,995 (GRCm38)	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,620,637 (GRCm38)	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,142 (GRCm38)	S1074P	probably damaging	Het
Vwde	C	A	6: 13,208,338 (GRCm38)	G182C	possibly damaging	Het
Wdfy3	A	C	5: 101,860,486 (GRCm38)	S2778A	probably null	Het
Zbtb2	T	A	10: 4,369,757 (GRCm38)	I90F	possibly damaging	Het
Zfp518b	C	A	5: 38,672,002 (GRCm38)	V887F	probably benign	Het
Zfp790	A	G	7: 29,828,861 (GRCm38)	T324A	probably benign	Het
Zufsp	A	G	10: 33,929,824 (GRCm38)	V437A	possibly damaging	Het

Other mutations in Sepsecs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Sepsecs	APN	5	52,644,060 (GRCm38)	missense	probably benign	0.00
IGL02685:Sepsecs	APN	5	52,647,192 (GRCm38)	missense	probably benign
IGL03033:Sepsecs	APN	5	52,660,676 (GRCm38)	missense	probably damaging	1.00
R1051:Sepsecs	UTSW	5	52,665,356 (GRCm38)	missense	probably damaging	1.00
R1240:Sepsecs	UTSW	5	52,660,679 (GRCm38)	missense	probably damaging	1.00
R2014:Sepsecs	UTSW	5	52,647,624 (GRCm38)	missense	probably benign
R3855:Sepsecs	UTSW	5	52,664,274 (GRCm38)	missense	probably damaging	1.00
R4687:Sepsecs	UTSW	5	52,643,871 (GRCm38)	missense	probably benign	0.00
R5120:Sepsecs	UTSW	5	52,660,661 (GRCm38)	missense	probably damaging	1.00
R5314:Sepsecs	UTSW	5	52,647,673 (GRCm38)	missense	probably benign	0.01
R5468:Sepsecs	UTSW	5	52,644,014 (GRCm38)	missense	probably damaging	1.00
R6924:Sepsecs	UTSW	5	52,664,304 (GRCm38)	missense	probably benign	0.13
R7002:Sepsecs	UTSW	5	52,647,208 (GRCm38)	critical splice acceptor site	probably null
R7507:Sepsecs	UTSW	5	52,644,055 (GRCm38)	missense	probably damaging	0.99
R7527:Sepsecs	UTSW	5	52,644,051 (GRCm38)	missense	possibly damaging	0.85
R7792:Sepsecs	UTSW	5	52,644,049 (GRCm38)	missense	probably damaging	1.00
R7798:Sepsecs	UTSW	5	52,647,189 (GRCm38)	missense	probably benign
R9232:Sepsecs	UTSW	5	52,666,002 (GRCm38)	missense	probably benign	0.01
R9429:Sepsecs	UTSW	5	52,643,952 (GRCm38)	missense	probably benign	0.02
R9797:Sepsecs	UTSW	5	52,668,897 (GRCm38)	critical splice donor site	probably null
RF003:Sepsecs	UTSW	5	52,647,191 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GATTCCCTCAGTTGATAGGTTTTACC -3'
(R):5'- TGTTCGCAGTGGCTCTGAAG -3'

Sequencing Primer
(F):5'- GAGAAGCATTAAAGCATTTTAAAGGC -3'
(R):5'- AAGCTCACTGTGTTGTGGTAAAG -3'

Posted On

2014-08-25