Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01373:Selenoh'

84102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Selenoh

Ensembl Gene

ENSMUSG00000076437

Gene Name

selenoprotein H

Synonyms

2700094K13Rik, SelH

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

84499559-84501052 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 84500938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053664] [ENSMUST00000102646] [ENSMUST00000102647] [ENSMUST00000111664] [ENSMUST00000111665] [ENSMUST00000117299] [ENSMUST00000133437] [ENSMUST00000189636] [ENSMUST00000189988] [ENSMUST00000189772]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053664

SMART Domains

Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
Pfam:Thioredoxin	137	243	3.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102646

SMART Domains

Protein: ENSMUSP00000099706
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102647

SMART Domains

Protein: ENSMUSP00000099707
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111664

SMART Domains

Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
Pfam:Thioredoxin	99	205	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111665

SMART Domains

Protein: ENSMUSP00000107294
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
Pfam:Thioredoxin	137	243	3.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117299

SMART Domains

Protein: ENSMUSP00000112635
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138529

Predicted Effect

probably benign
Transcript: ENSMUST00000133437

SMART Domains

Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598

Domain	Start	End	E-Value	Type
BTB	34	132	4.96e-11	SMART
low complexity region	217	230	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189636

SMART Domains

Protein: ENSMUSP00000139830
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	109	1.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189988

SMART Domains

Protein: ENSMUSP00000139492
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	96	1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189772

SMART Domains

Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,310,642 (GRCm39)	R510*	probably null	Het
Adamts12	A	T	15: 11,310,816 (GRCm39)	E1024D	probably benign	Het
Aff2	T	A	X: 68,911,335 (GRCm39)	D1239E	possibly damaging	Het
Agps	T	C	2: 75,683,128 (GRCm39)	V151A	probably benign	Het
Cables1	A	T	18: 12,021,821 (GRCm39)	R276S	probably damaging	Het
Cep72	A	G	13: 74,207,578 (GRCm39)	S64P	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cpxm1	T	C	2: 130,236,055 (GRCm39)	E369G	probably damaging	Het
Dnah6	A	G	6: 73,051,731 (GRCm39)	L3021P	probably benign	Het
Esyt1	T	C	10: 128,354,810 (GRCm39)	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbxw24	C	T	9: 109,452,701 (GRCm39)	G98D	probably damaging	Het
Folh1	T	C	7: 86,395,350 (GRCm39)	I361V	probably benign	Het
Gpr19	T	A	6: 134,847,284 (GRCm39)	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,574,229 (GRCm39)	V143A	probably damaging	Het
Larp7-ps	A	G	4: 92,079,862 (GRCm39)	V42A	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lpin3	G	T	2: 160,745,649 (GRCm39)	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,506,871 (GRCm39)	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Nxnl2	T	C	13: 51,325,488 (GRCm39)	F44L	probably damaging	Het
Or11g2	T	A	14: 50,856,069 (GRCm39)	I130N	probably damaging	Het
Or2ag16	T	C	7: 106,351,653 (GRCm39)		probably benign	Het
Pcdhb20	A	T	18: 37,639,621 (GRCm39)	R716W	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,221 (GRCm39)	T116A	probably benign	Het
Psmb2	G	T	4: 126,580,885 (GRCm39)	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,922,916 (GRCm39)	L42*	probably null	Het
Ptpn22	A	T	3: 103,793,520 (GRCm39)	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,420,339 (GRCm39)	V191I	probably benign	Het
Rgs1	T	A	1: 144,121,116 (GRCm39)	D185V	probably damaging	Het
Slc6a5	C	T	7: 49,567,481 (GRCm39)	P312S	probably benign	Het
Snapc1	T	A	12: 74,011,454 (GRCm39)	M40K	probably benign	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Syne2	T	C	12: 76,033,881 (GRCm39)	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tex9	A	T	9: 72,388,036 (GRCm39)	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,611,821 (GRCm39)	C1063F	possibly damaging	Het
Usp38	C	A	8: 81,716,647 (GRCm39)	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,304,568 (GRCm39)	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het

Other mutations in Selenoh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4577:Selenoh	UTSW	2	84,500,675 (GRCm39)	missense	possibly damaging	0.83
R7271:Selenoh	UTSW	2	84,500,631 (GRCm39)	missense	probably damaging	1.00
R7655:Selenoh	UTSW	2	84,500,724 (GRCm39)	missense	probably damaging	1.00
R7656:Selenoh	UTSW	2	84,500,724 (GRCm39)	missense	probably damaging	1.00
R8330:Selenoh	UTSW	2	84,500,691 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-11-11