Mutagenetix > Incidental Mutations

Incidental Mutation 'R6034:Selenoo'

480578

Institutional Source

Beutler Lab

Gene Symbol

Selenoo

Ensembl Gene

ENSMUSG00000035757

Gene Name

selenoprotein O

Synonyms

Selo, 1300018J18Rik

MMRRC Submission

044206-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89089084-89100340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89099343 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 529 (K529R)

Ref Sequence

ENSEMBL: ENSMUSP00000081020 (fasta)

Gene Model

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

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: K529R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081020
Gene: ENSMUSG00000035757
AA Change: K529R

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

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

noncoding transcript
Transcript: ENSMUST00000166994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168256

Predicted Effect

probably benign
Transcript: ENSMUST00000169069

SMART Domains

Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
coiled coil region	77	107	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169208

Predicted Effect

probably benign
Transcript: ENSMUST00000170877

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.4%
20x: 87.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,721,903	G80V	unknown	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Atad2	A	T	15: 58,108,563	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,731,907		probably null	Het
Atp6v1c2	C	A	12: 17,307,500	G95V	possibly damaging	Het
Birc6	T	A	17: 74,615,283	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,575,832	E597G	probably benign	Het
Ccdc129	T	A	6: 55,967,681	D462E	possibly damaging	Het
Ccdc40	A	G	11: 119,243,072	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354	R587K	probably benign	Het
Cdipt	T	G	7: 126,978,325	V81G	probably damaging	Het
Cfh	T	C	1: 140,163,131	K40E	probably damaging	Het
Col4a3bp	A	C	13: 96,609,800	I236L	probably benign	Het
Cps1	T	A	1: 67,157,713		probably null	Het
Dnah7c	A	T	1: 46,457,258	D101V	probably benign	Het
Fastkd3	T	A	13: 68,583,610	W17R	probably damaging	Het
H2-Ob	T	C	17: 34,241,218	V30A	probably damaging	Het
Hist1h1e	A	G	13: 23,622,313	L62P	probably damaging	Het
Hmgxb3	T	A	18: 61,132,522	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,677,712	I255N	probably damaging	Het
Imp4	A	G	1: 34,443,456	D91G	probably damaging	Het
Kcnip4	G	T	5: 48,390,941	R241S	possibly damaging	Het
Lilra5	T	C	7: 4,242,134	L259P	probably benign	Het
Lipf	T	C	19: 33,964,889	I73T	probably benign	Het
Lsm7	T	C	10: 80,852,908		probably null	Het
Luzp2	T	A	7: 55,167,224	L141M	probably damaging	Het
Malrd1	T	A	2: 15,845,326	V1252E	possibly damaging	Het
Map10	T	C	8: 125,672,466	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,607,040		probably benign	Het
Mpp2	T	C	11: 102,061,634	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,823,834		probably benign	Het
Myo5c	A	T	9: 75,255,905	T339S	probably benign	Het
Naa15	A	G	3: 51,442,821	D163G	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1303	T	A	2: 111,814,357	Y123F	probably damaging	Het
Oosp2	A	G	19: 11,651,515	F74S	probably damaging	Het
Pard3	C	G	8: 127,064,327		probably benign	Het
Pcdha1	T	A	18: 36,930,598	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,762,548	T224A	possibly damaging	Het
Phf12	A	G	11: 78,018,069	N325S	probably benign	Het
Prom1	T	A	5: 44,044,408		probably null	Het
Raet1e	A	G	10: 22,182,091	*252W	probably null	Het
Sap130	T	C	18: 31,689,406	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,552,939	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,750,203	T101I	possibly damaging	Het
Slc22a15	A	G	3: 101,862,919	F451L	possibly damaging	Het
St6gal2	T	A	17: 55,482,981	S339T	probably benign	Het
Stard13	A	T	5: 151,095,500		probably null	Het
Synm	A	G	7: 67,734,905	V561A	probably damaging	Het
Tc2n	A	T	12: 101,651,201		probably null	Het
Ugt2b36	T	A	5: 87,081,518	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,008,869	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,771,373	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,295,280	G185C	probably damaging	Het
Zfp563	G	A	17: 33,104,961	A177T	probably damaging	Het

Other mutations in Selenoo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Selenoo	APN	15	89095672	missense	probably damaging	1.00
IGL01922:Selenoo	APN	15	89099649	missense	probably benign	0.06
IGL02103:Selenoo	APN	15	89099970	missense	probably damaging	1.00
R0655:Selenoo	UTSW	15	89095655	missense	probably damaging	1.00
R0960:Selenoo	UTSW	15	89096754	missense	probably benign	0.08
R1610:Selenoo	UTSW	15	89099916	missense	probably benign
R2152:Selenoo	UTSW	15	89099282	missense	probably benign	0.01
R4177:Selenoo	UTSW	15	89099459	unclassified	probably benign
R4588:Selenoo	UTSW	15	89096718	missense	probably benign	0.01
R4622:Selenoo	UTSW	15	89095707	nonsense	probably null
R4731:Selenoo	UTSW	15	89099328	missense	probably benign	0.00
R4926:Selenoo	UTSW	15	89099678	missense	probably damaging	0.98
R4934:Selenoo	UTSW	15	89098767	missense	probably damaging	0.98
R4999:Selenoo	UTSW	15	89094184	missense	probably damaging	1.00
R5000:Selenoo	UTSW	15	89094184	missense	probably damaging	1.00
R5033:Selenoo	UTSW	15	89092766	missense	probably damaging	1.00
R5120:Selenoo	UTSW	15	89094305	missense	possibly damaging	0.79
R6034:Selenoo	UTSW	15	89099343	missense	probably benign	0.00
R7238:Selenoo	UTSW	15	89089224	missense	probably benign	0.15
R7287:Selenoo	UTSW	15	89098700	missense	probably benign	0.01
R7378:Selenoo	UTSW	15	89089478	missense	probably benign	0.07
R7818:Selenoo	UTSW	15	89096816	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26