Mutagenetix > Incidental Mutation

Incidental Mutation 'R3746:Selenom'

309818

Institutional Source

Beutler Lab

Gene Symbol

Selenom

Ensembl Gene

ENSMUSG00000075702

Gene Name

selenoprotein M

Synonyms

SelM, Selm, 1500040L08Rik

MMRRC Submission

040732-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R3746 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3464684-3467351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3467132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 137 (E137G)

Ref Sequence

ENSEMBL: ENSMUSP00000092041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020718] [ENSMUST00000020721] [ENSMUST00000075118] [ENSMUST00000094469] [ENSMUST00000110011] [ENSMUST00000170588]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020718

SMART Domains

Protein: ENSMUSP00000020718
Gene: ENSMUSG00000020439

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	26	38	N/A	INTRINSIC
coiled coil region	41	74	N/A	INTRINSIC
low complexity region	75	100	N/A	INTRINSIC
low complexity region	118	132	N/A	INTRINSIC
Pfam:Smoothelin	154	208	1e-23	PFAM
low complexity region	212	236	N/A	INTRINSIC
CH	322	421	1.04e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020721

SMART Domains

Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	1.7e-15	PFAM
Pfam:Smoothelin	68	122	6.8e-19	PFAM
low complexity region	159	180	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	366	391	N/A	INTRINSIC
Pfam:Smoothelin	563	617	2.7e-23	PFAM
low complexity region	697	721	N/A	INTRINSIC
CH	807	906	1.04e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075118

SMART Domains

Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	1.7e-15	PFAM
Pfam:Smoothelin	68	122	6.8e-19	PFAM
low complexity region	159	180	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	366	391	N/A	INTRINSIC
Pfam:Smoothelin	563	617	2.8e-23	PFAM
low complexity region	697	721	N/A	INTRINSIC
CH	807	907	9.51e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094469
AA Change: E137G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092041
Gene: ENSMUSG00000075702
AA Change: E137G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Sep15_SelM	40	114	3.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110011

SMART Domains

Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	2.5e-14	PFAM
Pfam:Smoothelin	72	122	8.5e-19	PFAM
low complexity region	159	180	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	366	391	N/A	INTRINSIC
Pfam:Smoothelin	568	617	6e-25	PFAM
low complexity region	697	721	N/A	INTRINSIC
CH	807	930	1.62e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144635

Predicted Effect

probably benign
Transcript: ENSMUST00000170588

SMART Domains

Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	1.7e-15	PFAM
Pfam:Smoothelin	68	122	6.8e-19	PFAM
low complexity region	159	180	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	366	391	N/A	INTRINSIC
Pfam:Smoothelin	563	617	2.7e-23	PFAM
low complexity region	697	721	N/A	INTRINSIC
CH	807	906	1.04e-22	SMART

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the selenoprotein M/SEP15 family. The exact function of this protein is not known. It is localized in the perinuclear region, is highly expressed in the brain, and may be involved in neurodegenerative disorders. Transgenic mice with targeted deletion of this gene exhibit increased weight gain, suggesting a role for this gene in the regulation of body weight and energy metabolism. This protein is a 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. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit obesity without cognitive deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abcb5	T	C	12: 118,838,355 (GRCm39)	D1069G	probably damaging	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Ccdc40	T	C	11: 119,155,252 (GRCm39)	V1164A	probably benign	Het
Chd7	G	A	4: 8,752,537 (GRCm39)	V345M	probably damaging	Het
Cln6	A	G	9: 62,754,284 (GRCm39)	I109V	probably benign	Het
Csmd3	A	T	15: 47,713,162 (GRCm39)	F1604Y	probably benign	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Dip2c	A	T	13: 9,651,509 (GRCm39)	D674V	probably damaging	Het
Dnah17	T	C	11: 117,973,742 (GRCm39)	S1935G	probably benign	Het
Eif3g	G	A	9: 20,805,993 (GRCm39)	R295C	probably benign	Het
Epha5	T	C	5: 84,206,963 (GRCm39)	K998E	probably damaging	Het
Fam171b	A	T	2: 83,709,944 (GRCm39)	T539S	probably damaging	Het
Fer1l4	G	T	2: 155,876,968 (GRCm39)	H1159N	probably benign	Het
Fsip1	A	G	2: 118,063,531 (GRCm39)	C313R	probably damaging	Het
Gm37240	T	G	3: 84,426,919 (GRCm39)	N168T	probably benign	Het
Gm7589	T	C	9: 59,053,138 (GRCm39)		noncoding transcript	Het
Igkv20-101-2	A	T	6: 68,451,942 (GRCm39)	I66L	possibly damaging	Het
Irf3	T	C	7: 44,648,297 (GRCm39)	F54S	probably damaging	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Lrp10	A	T	14: 54,706,723 (GRCm39)	N520I	possibly damaging	Het
Map3k21	A	G	8: 126,661,839 (GRCm39)	K479E	probably damaging	Het
Mpdz	A	C	4: 81,281,384 (GRCm39)	V609G	probably damaging	Het
Opcml	G	A	9: 28,812,826 (GRCm39)	V173M	possibly damaging	Het
Or51b6	T	A	7: 103,556,267 (GRCm39)	M207K	probably benign	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Pcdh17	A	T	14: 84,770,477 (GRCm39)	Y985F	probably benign	Het
Piezo1	G	T	8: 123,219,377 (GRCm39)	F1084L	probably damaging	Het
Pkhd1	A	G	1: 20,128,524 (GRCm39)	*4060Q	probably null	Het
Plekhn1	T	C	4: 156,310,051 (GRCm39)	T88A	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Rmdn2	T	A	17: 79,977,981 (GRCm39)		probably null	Het
Slc38a7	A	G	8: 96,570,380 (GRCm39)		probably benign	Het
Slc39a12	T	C	2: 14,400,878 (GRCm39)		probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Supt16	A	G	14: 52,417,596 (GRCm39)	L306P	probably damaging	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trim63	G	A	4: 134,042,665 (GRCm39)	C44Y	probably damaging	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r4	A	G	6: 56,934,116 (GRCm39)	R207G	probably damaging	Het
Vmn2r76	A	G	7: 85,874,763 (GRCm39)	V738A	probably benign	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het

Other mutations in Selenom

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03018:Selenom	APN	11	3,466,508 (GRCm39)	missense	probably damaging	1.00
R5831:Selenom	UTSW	11	3,466,882 (GRCm39)	nonsense	probably null
R6216:Selenom	UTSW	11	3,464,915 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGGCTAAGTGCTGATCCC -3'
(R):5'- ATAAGAAGAGACTCCGCGTG -3'

Sequencing Primer
(F):5'- TAAGTGCTGATCCCGCCCTTTC -3'
(R):5'- AGGGAGGATTGAGATTCCCCC -3'

Posted On

2015-04-17