Mutagenetix > Incidental Mutation

Incidental Mutation 'R7287:Selenoo'

566121

Institutional Source

Beutler Lab

Gene Symbol

Selenoo

Ensembl Gene

ENSMUSG00000035757

Gene Name

selenoprotein O

Synonyms

Selo, 1300018J18Rik

MMRRC Submission

045321-MU

Accession Numbers

Essential gene?

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

Stock #

R7287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88973287-88984543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88982903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 477 (F477L)

Ref Sequence

ENSEMBL: ENSMUSP00000081020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082439] [ENSMUST00000109353] [ENSMUST00000130700] [ENSMUST00000166480]

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 benign
Transcript: ENSMUST00000082439
AA Change: F477L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000081020
Gene: ENSMUSG00000035757
AA Change: F477L

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

probably benign
Transcript: ENSMUST00000166480

SMART Domains

Protein: ENSMUSP00000132108
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	2	123	5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170877

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,604,861 (GRCm39)	D656G	possibly damaging	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc8	T	C	7: 45,762,534 (GRCm39)	H1209R	probably damaging	Het
Adam26a	T	C	8: 44,023,380 (GRCm39)	T37A	possibly damaging	Het
Adamts9	C	T	6: 92,866,984 (GRCm39)	R685Q	possibly damaging	Het
Anapc7	T	A	5: 122,571,499 (GRCm39)	N191K	probably benign	Het
Ankrd26	C	T	6: 118,526,598 (GRCm39)		probably null	Het
Ap5z1	T	C	5: 142,459,802 (GRCm39)	L484P	probably damaging	Het
Arhgap32	A	G	9: 32,063,993 (GRCm39)	D77G		Het
Atp10a	T	A	7: 58,477,017 (GRCm39)	D1213E	probably damaging	Het
B3gnt8	T	C	7: 25,328,395 (GRCm39)	L275P	probably damaging	Het
Bltp2	G	A	11: 78,163,709 (GRCm39)	R1059H	possibly damaging	Het
Cab39	A	G	1: 85,746,182 (GRCm39)	E21G	probably benign	Het
Capn15	G	T	17: 26,179,429 (GRCm39)	S948R	probably damaging	Het
Cbarp	T	C	10: 79,973,154 (GRCm39)	T15A	unknown	Het
Ccdc81	C	T	7: 89,542,331 (GRCm39)	A182T	probably damaging	Het
Ccpg1	A	G	9: 72,922,688 (GRCm39)	H766R	probably benign	Het
Cfl1	T	C	19: 5,542,562 (GRCm39)	V14A	probably benign	Het
Chd6	A	G	2: 160,850,312 (GRCm39)	I875T	probably benign	Het
Cidec	T	A	6: 113,405,359 (GRCm39)	E121D	probably benign	Het
Clpx	C	A	9: 65,207,295 (GRCm39)	Y64*	probably null	Het
Cntn1	T	A	15: 92,143,833 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,826 (GRCm39)	L472P	probably damaging	Het
Dcdc2c	G	T	12: 28,566,685 (GRCm39)	D159E	probably benign	Het
Emp1	T	C	6: 135,357,167 (GRCm39)	F82L	probably benign	Het
Fem1b	T	C	9: 62,703,404 (GRCm39)	T619A	probably benign	Het
Fgf15	A	T	7: 144,450,531 (GRCm39)	D39V	probably benign	Het
Galnt12	T	G	4: 47,108,525 (GRCm39)	F221V	probably damaging	Het
Herc6	A	G	6: 57,628,965 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,256,867 (GRCm39)	V1537I	probably benign	Het
Ido2	T	C	8: 25,025,154 (GRCm39)		probably null	Het
Insr	G	A	8: 3,219,717 (GRCm39)	T935I	probably benign	Het
Itgax	G	A	7: 127,747,677 (GRCm39)	C1031Y	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kmt5b	T	C	19: 3,854,501 (GRCm39)	Y255H	possibly damaging	Het
Lrriq1	A	T	10: 103,051,877 (GRCm39)	Y292N	probably benign	Het
Mrpl37	A	G	4: 106,917,717 (GRCm39)	F318S	probably damaging	Het
Nav2	A	G	7: 49,070,076 (GRCm39)	N311D	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp9b	T	C	7: 19,762,381 (GRCm39)	C673R	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or1e19	T	A	11: 73,316,669 (GRCm39)	I47F	probably benign	Het
Plce1	A	T	19: 38,690,347 (GRCm39)	Q677L	probably benign	Het
Pmel	C	T	10: 128,551,095 (GRCm39)	Q113*	probably null	Het
Pom121l2	T	A	13: 22,168,502 (GRCm39)	F924L	probably benign	Het
Poteg	G	A	8: 27,943,372 (GRCm39)	R214K	probably null	Het
Pprc1	G	T	19: 46,059,793 (GRCm39)	S1480I	unknown	Het
Secisbp2l	A	G	2: 125,582,289 (GRCm39)	S1056P	probably benign	Het
Senp2	A	G	16: 21,837,114 (GRCm39)	D121G	probably damaging	Het
Slc25a11	T	C	11: 70,536,181 (GRCm39)	D211G	probably benign	Het
Slc44a2	A	G	9: 21,253,752 (GRCm39)	D131G	probably benign	Het
Tcf25	G	A	8: 124,100,711 (GRCm39)	A34T	possibly damaging	Het
Tm9sf3	A	G	19: 41,205,818 (GRCm39)	Y530H	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem132d	G	T	5: 128,061,415 (GRCm39)	Q396K	probably damaging	Het
Tmem154	A	G	3: 84,597,870 (GRCm39)	T136A	possibly damaging	Het
Tnrc6b	A	G	15: 80,763,742 (GRCm39)	T415A	possibly damaging	Het
Tonsl	T	C	15: 76,517,925 (GRCm39)		probably null	Het
Ttyh1	T	C	7: 4,128,657 (GRCm39)	Y185H	probably benign	Het
Ufl1	T	A	4: 25,254,852 (GRCm39)	T535S	probably benign	Het
Vmn1r15	T	C	6: 57,235,201 (GRCm39)	L23P	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,040 (GRCm39)	H78L	possibly damaging	Het
Vmn2r68	T	C	7: 84,871,460 (GRCm39)	T608A	probably benign	Het
Vwf	A	G	6: 125,614,430 (GRCm39)	I1104V		Het
Zbtb2	C	T	10: 4,318,986 (GRCm39)	D347N	possibly damaging	Het
Zfyve9	A	T	4: 108,575,453 (GRCm39)	S543T	probably benign	Het
Zhx1	T	C	15: 57,916,692 (GRCm39)	N518S	probably damaging	Het
Zmym6	T	C	4: 127,016,775 (GRCm39)	V852A	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
R0655:Selenoo	UTSW	15	88,979,858 (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
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'- TGTCAATACACTTTTCGGGTGAC -3'
(R):5'- CTCAATGGTGCAGAAATGTGATC -3'

Sequencing Primer
(F):5'- TGACCTACAAAGGACTGG -3'
(R):5'- GTGCAGAAATGTGATCTCACTGC -3'

Posted On

2019-06-26