Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:Selenoi'

410520

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Selenoi

Ensembl Gene

ENSMUSG00000075703

Gene Name

selenoprotein I

Synonyms

4933402G07Rik, Ept1, C79563, D5Wsu178e

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.896) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

30232581-30272427 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30257727 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 197 (Y197H)

Ref Sequence

ENSEMBL: ENSMUSP00000118368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000132404] [ENSMUST00000145167] [ENSMUST00000145858]

Predicted Effect

probably damaging
Transcript: ENSMUST00000132404
AA Change: Y172H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117343
Gene: ENSMUSG00000075703
AA Change: Y172H

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	46	188	1.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138001

Predicted Effect

probably damaging
Transcript: ENSMUST00000145167
AA Change: Y197H

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

SMART Domains

Protein: ENSMUSP00000118368
Gene: ENSMUSG00000075703
AA Change: Y197H

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	48	129	1.8e-16	PFAM
low complexity region	151	167	N/A	INTRINSIC
low complexity region	323	339	N/A	INTRINSIC
low complexity region	346	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145858

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid 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, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,769,122	L7S	unknown	Het
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Brix1	A	G	15: 10,478,766	F189S	probably damaging	Het
Cnot4	C	A	6: 35,051,241	R480L	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,852,985	A230V	probably damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Pigw	A	G	11: 84,877,777	I242T	probably benign	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Smurf2	A	T	11: 106,831,048	D527E	probably benign	Het
Spam1	C	T	6: 24,797,011		probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Ttc39b	A	T	4: 83,237,280	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	Het

Other mutations in Selenoi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Selenoi	APN	5	30256224	missense	probably damaging	0.97
IGL01645:Selenoi	APN	5	30257823	unclassified	probably benign
IGL03232:Selenoi	APN	5	30256261	missense	probably damaging	1.00
R0506:Selenoi	UTSW	5	30266956	missense	probably benign	0.00
R1750:Selenoi	UTSW	5	30257773	missense	probably benign	0.32
R3767:Selenoi	UTSW	5	30256189	missense	probably damaging	1.00
R3925:Selenoi	UTSW	5	30256088	missense	probably damaging	1.00
R4540:Selenoi	UTSW	5	30256087	missense	probably damaging	1.00
R4797:Selenoi	UTSW	5	30252742	missense	probably damaging	1.00
R7461:Selenoi	UTSW	5	30266928	missense	possibly damaging	0.50
R7613:Selenoi	UTSW	5	30266928	missense	possibly damaging	0.50
Z1176:Selenoi	UTSW	5	30252766	missense	probably damaging	1.00

Posted On

2016-08-02