Mutagenetix > Incidental Mutation

Incidental Mutation 'R0655:Selenoo'

62518

Institutional Source

Beutler Lab

Gene Symbol

Selenoo

Ensembl Gene

ENSMUSG00000035757

Gene Name

selenoprotein O

Synonyms

Selo, 1300018J18Rik

MMRRC Submission

038840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R0655 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

88973287-88984543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88979858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 335 (H335Q)

Ref Sequence

ENSEMBL: ENSMUSP00000081020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082439] [ENSMUST00000109353] [ENSMUST00000130700]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041656

SMART Domains

Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	355	1667	3.3e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000082439
AA Change: H335Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081020
Gene: ENSMUSG00000035757
AA Change: H335Q

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Pfam:UPF0061	79	625	8.3e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109353

SMART Domains

Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	355	1675	2.8e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130700

SMART Domains

Protein: ENSMUSP00000138382
Gene: ENSMUSG00000035757

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Pfam:UPF0061	80	241	1.5e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163290

SMART Domains

Protein: ENSMUSP00000131359
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	91	288	2.9e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166994

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	C	17: 36,268,737 (GRCm39)	I757M	probably benign	Het
Abtb3	A	G	10: 85,481,390 (GRCm39)	T931A	probably damaging	Het
Atg16l1	T	A	1: 87,694,551 (GRCm39)	I76N	probably damaging	Het
Baz1b	T	A	5: 135,271,284 (GRCm39)	I1289N	probably benign	Het
Bcl2l15	T	A	3: 103,740,285 (GRCm39)		probably null	Het
Cbl	G	T	9: 44,070,049 (GRCm39)	T566K	probably damaging	Het
Cd96	T	C	16: 45,919,482 (GRCm39)	K180E	probably benign	Het
Cpxm2	G	A	7: 131,656,549 (GRCm39)	T571I	possibly damaging	Het
Cyp2a12	A	T	7: 26,736,046 (GRCm39)	Y485F	probably benign	Het
Cyp4f17	T	A	17: 32,743,871 (GRCm39)	Y350N	possibly damaging	Het
Dstn	T	A	2: 143,780,342 (GRCm39)	I14N	probably damaging	Het
Eea1	A	G	10: 95,831,460 (GRCm39)	S184G	probably benign	Het
Eif1a	G	T	18: 46,741,130 (GRCm39)	G122C	probably damaging	Het
Esf1	T	A	2: 139,990,799 (GRCm39)	T562S	probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Fig4	T	C	10: 41,161,673 (GRCm39)	N30S	probably damaging	Het
Gria2	C	A	3: 80,639,377 (GRCm39)	E212*	probably null	Het
Gsdmc2	C	T	15: 63,699,622 (GRCm39)	A269T	probably benign	Het
Herc4	T	C	10: 63,109,350 (GRCm39)	V195A	probably benign	Het
Hivep1	T	C	13: 42,321,061 (GRCm39)	S2123P	probably damaging	Het
Hspa4	T	C	11: 53,160,519 (GRCm39)	E519G	probably benign	Het
Htr2b	A	G	1: 86,038,565 (GRCm39)	S14P	probably benign	Het
Ifit1	T	C	19: 34,625,047 (GRCm39)	V61A	probably damaging	Het
Ifitm1	C	A	7: 140,549,449 (GRCm39)	F77L	probably benign	Het
Matn2	T	C	15: 34,345,346 (GRCm39)	S118P	probably benign	Het
Mtmr3	C	A	11: 4,438,610 (GRCm39)	D615Y	probably damaging	Het
Mtss1	C	A	15: 58,953,351 (GRCm39)	C9F	probably damaging	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Nwd2	T	C	5: 63,948,928 (GRCm39)	S167P	possibly damaging	Het
Or1e34	T	C	11: 73,778,631 (GRCm39)	D189G	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,632 (GRCm39)	F102Y	probably damaging	Het
Or8b54	C	T	9: 38,686,850 (GRCm39)	Q100*	probably null	Het
Oscp1	T	C	4: 125,952,526 (GRCm39)	L18P	probably damaging	Het
Pax5	A	G	4: 44,537,462 (GRCm39)	S297P	probably damaging	Het
Phldb3	A	T	7: 24,323,797 (GRCm39)	D476V	probably benign	Het
Phlpp2	A	T	8: 110,622,219 (GRCm39)	I154L	probably benign	Het
Prx	T	A	7: 27,216,846 (GRCm39)	V449E	probably damaging	Het
Psd3	A	G	8: 68,416,341 (GRCm39)	S519P	probably benign	Het
Rnf138	T	G	18: 21,143,840 (GRCm39)	V128G	probably benign	Het
Safb	T	A	17: 56,904,803 (GRCm39)	S209T	probably benign	Het
Sbno1	C	A	5: 124,514,212 (GRCm39)	V1327L	possibly damaging	Het
Scarb1	A	G	5: 125,377,504 (GRCm39)	V176A	probably damaging	Het
Scd4	A	G	19: 44,327,407 (GRCm39)	H161R	possibly damaging	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Spef2	T	C	15: 9,626,217 (GRCm39)	I1116M	possibly damaging	Het
Taf2	G	A	15: 54,901,690 (GRCm39)	R835W	probably damaging	Het
Tdrd9	A	G	12: 112,006,899 (GRCm39)	E921G	probably damaging	Het
Tectb	G	A	19: 55,178,302 (GRCm39)	G234S	possibly damaging	Het
Tmc1	C	T	19: 20,776,540 (GRCm39)	M606I	probably damaging	Het
Tmed10	T	A	12: 85,390,291 (GRCm39)	I88F	probably damaging	Het
Tnfrsf11a	G	A	1: 105,735,880 (GRCm39)	V31I	unknown	Het
Trp53inp2	G	T	2: 155,228,088 (GRCm39)	G98*	probably null	Het
Tssc4	A	G	7: 142,623,782 (GRCm39)	D30G	probably damaging	Het
Uaca	T	C	9: 60,779,311 (GRCm39)	Y1233H	probably benign	Het
Unc13c	G	A	9: 73,838,235 (GRCm39)	T872I	probably damaging	Het
Unc80	A	G	1: 66,542,940 (GRCm39)	H398R	probably damaging	Het
Vmn1r64	G	A	7: 5,887,207 (GRCm39)	T112I	probably benign	Het
Vmn1r85	A	G	7: 12,818,650 (GRCm39)	Y165H	probably damaging	Het
Vmn2r72	A	T	7: 85,387,319 (GRCm39)	C748*	probably null	Het
Wdr17	A	G	8: 55,102,233 (GRCm39)	W929R	probably damaging	Het
Yeats2	A	T	16: 20,012,574 (GRCm39)	K591*	probably null	Het
Zbtb9	T	A	17: 27,193,074 (GRCm39)	S160T	probably damaging	Het
Znfx1	T	A	2: 166,898,827 (GRCm39)	R32S	probably damaging	Het
Zng1	T	C	19: 24,930,684 (GRCm39)	M122V	possibly damaging	Het

Other mutations in Selenoo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Selenoo	APN	15	88,979,875 (GRCm39)	missense	probably damaging	1.00
IGL01922:Selenoo	APN	15	88,983,852 (GRCm39)	missense	probably benign	0.06
IGL02103:Selenoo	APN	15	88,984,173 (GRCm39)	missense	probably damaging	1.00
R0960:Selenoo	UTSW	15	88,980,957 (GRCm39)	missense	probably benign	0.08
R1610:Selenoo	UTSW	15	88,984,119 (GRCm39)	missense	probably benign
R2152:Selenoo	UTSW	15	88,983,485 (GRCm39)	missense	probably benign	0.01
R4177:Selenoo	UTSW	15	88,983,662 (GRCm39)	unclassified	probably benign
R4588:Selenoo	UTSW	15	88,980,921 (GRCm39)	missense	probably benign	0.01
R4622:Selenoo	UTSW	15	88,979,910 (GRCm39)	nonsense	probably null
R4731:Selenoo	UTSW	15	88,983,531 (GRCm39)	missense	probably benign	0.00
R4926:Selenoo	UTSW	15	88,983,881 (GRCm39)	missense	probably damaging	0.98
R4934:Selenoo	UTSW	15	88,982,970 (GRCm39)	missense	probably damaging	0.98
R4999:Selenoo	UTSW	15	88,978,387 (GRCm39)	missense	probably damaging	1.00
R5000:Selenoo	UTSW	15	88,978,387 (GRCm39)	missense	probably damaging	1.00
R5033:Selenoo	UTSW	15	88,976,969 (GRCm39)	missense	probably damaging	1.00
R5120:Selenoo	UTSW	15	88,978,508 (GRCm39)	missense	possibly damaging	0.79
R6034:Selenoo	UTSW	15	88,983,546 (GRCm39)	missense	probably benign	0.00
R6034:Selenoo	UTSW	15	88,983,546 (GRCm39)	missense	probably benign	0.00
R7238:Selenoo	UTSW	15	88,973,427 (GRCm39)	missense	probably benign	0.15
R7287:Selenoo	UTSW	15	88,982,903 (GRCm39)	missense	probably benign	0.01
R7378:Selenoo	UTSW	15	88,973,681 (GRCm39)	missense	probably benign	0.07
R7818:Selenoo	UTSW	15	88,981,019 (GRCm39)	missense	probably damaging	1.00
R8058:Selenoo	UTSW	15	88,976,942 (GRCm39)	missense	possibly damaging	0.95
R9233:Selenoo	UTSW	15	88,984,044 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTAGCATTGCCCTATAGCTCCC -3'
(R):5'- TCACACAGACCACACTGTTCCTGG -3'

Sequencing Primer
(F):5'- TGGAAATGGCACTTAAGCCC -3'
(R):5'- GGTCCTCTCCCTCACAGG -3'

Posted On

2013-07-30