Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Sepsecs'

353744

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

041938-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52640087-52669708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52643871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 483 (D483G)

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: D483G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031069
Gene: ENSMUSG00000029173
AA Change: D483G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 8,992,153	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,798,326	V189A	probably damaging	Het
Akip1	C	A	7: 109,704,986	S90*	probably null	Het
Amn	A	T	12: 111,276,068	D439V	probably benign	Het
Arhgap17	T	A	7: 123,321,603	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,092,465	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,133,085	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,259,253	P462T	probably damaging	Het
Bves	C	T	10: 45,354,840		probably null	Het
Cabp7	T	A	11: 4,739,265	K127*	probably null	Het
Cacna1h	A	G	17: 25,393,910	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,753,724	H245R	probably damaging	Het
Celsr1	T	A	15: 85,932,460	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,627,456	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,367,465	L174P	probably damaging	Het
Crim1	G	T	17: 78,303,025	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,692,937	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,599,300	P43L	probably damaging	Het
Dpf2	T	C	19: 5,907,012	H16R	probably damaging	Het
Dsp	A	G	13: 38,191,619	T1127A	probably damaging	Het
Dst	T	C	1: 34,201,123	L1525P	probably damaging	Het
Ehf	T	A	2: 103,267,126	D192V	probably damaging	Het
Frem1	G	T	4: 83,020,631	N71K	probably damaging	Het
Furin	T	A	7: 80,393,447	T339S	probably benign	Het
Gad1	T	A	2: 70,600,720	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,723,810	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258		noncoding transcript	Homo
Gpn3	A	C	5: 122,378,575	D89A	possibly damaging	Het
Gpr18	T	A	14: 121,911,678	R312*	probably null	Het
Gsap	T	C	5: 21,246,971		probably benign	Het
H2-Ab1	C	A	17: 34,264,809	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,438,285	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,681,730		probably benign	Het
Insr	T	C	8: 3,161,709	H1104R	probably benign	Het
Ipo13	A	T	4: 117,901,576	N697K	probably benign	Het
Iqcm	T	G	8: 75,762,989	F362V	probably damaging	Het
Irak4	T	C	15: 94,566,823	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,577,412	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,144,083	K829R	probably damaging	Het
Kdr	T	C	5: 75,968,792	N145S	possibly damaging	Het
Klra9	A	T	6: 130,185,517	D185E	probably benign	Het
Lcn12	T	C	2: 25,493,321	N15S	probably benign	Het
Mei4	T	A	9: 81,927,317	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223	S320T	probably benign	Het
Mrps5	C	G	2: 127,590,770	A37G	probably benign	Het
Mttp	A	G	3: 138,092,735	I800T	possibly damaging	Het
Nags	A	T	11: 102,148,196	Q451L	probably damaging	Het
Nbea	T	C	3: 56,058,065	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,722,419	E145G	possibly damaging	Het
Neb	T	G	2: 52,304,035	S660R	possibly damaging	Het
Nppb	A	G	4: 147,986,296	K43E	probably benign	Het
Nup188	A	T	2: 30,330,633	Q906L	probably benign	Het
Olfr1259	T	C	2: 89,943,869	D82G	probably damaging	Het
Olfr1413	T	C	1: 92,573,330	I53T	possibly damaging	Het
Olfr370	T	A	8: 83,541,860	S239T	probably damaging	Het
Olfr895	C	A	9: 38,269,414	N292K	probably damaging	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Palm3	A	G	8: 84,029,935	E692G	probably benign	Het
Pcsk6	T	C	7: 65,983,753	F578L	probably damaging	Het
Piezo2	A	C	18: 63,069,963	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,132,135	V130A	probably benign	Het
Proca1	T	C	11: 78,204,898	Y32H	probably damaging	Het
Prtg	T	A	9: 72,890,798	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,361,868	M455L	probably benign	Het
Rasa1	T	C	13: 85,226,635	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,464,730	I1550V	possibly damaging	Het
Setd7	T	C	3: 51,550,355	D17G	probably damaging	Het
Sipa1l2	C	T	8: 125,491,245	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,388,702	Y165C	probably damaging	Het
Smg5	T	C	3: 88,342,469	F68L	possibly damaging	Het
Sptbn5	A	G	2: 120,077,208		probably benign	Het
Stk3	A	G	15: 35,114,565	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,737,284	A235T	possibly damaging	Het
Tenm2	C	T	11: 36,049,097	A1400T	probably benign	Het
Tet1	T	A	10: 62,838,791	N1169Y	probably benign	Het
Treml2	T	A	17: 48,309,397		probably null	Het
Tspan11	A	G	6: 127,938,235	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,296,431	A543V	probably damaging	Het
Zfp148	T	A	16: 33,496,819	D578E	probably damaging	Het
Zfp735	A	T	11: 73,711,856	N542I	probably damaging	Het
Zfp735	A	T	11: 73,711,855	N542Y	probably damaging	Het
Zfp869	T	A	8: 69,708,143	E65D	probably benign	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
R2015:Sepsecs	UTSW	5	52,647,624 (GRCm38)	missense	probably benign
R3855:Sepsecs	UTSW	5	52,664,274 (GRCm38)	missense	probably damaging	1.00
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'- GTGAGAATCACCTGCAGCTTTAC -3'
(R):5'- TCCCATGCAGATAATTACCCCTG -3'

Sequencing Primer
(F):5'- AGAATCACCTGCAGCTTTACATTTTC -3'
(R):5'- GTGCTTACCTCAATGCGGCAG -3'

Posted On

2015-10-21