Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01968:Use1'

181593

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Use1

Ensembl Gene

ENSMUSG00000002395

Gene Name

unconventional SNARE in the ER 1 homolog (S. cerevisiae)

Synonyms

mED2, 2010315L10Rik, Q-SNARE, D12, 5730403H22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01968

Quality Score

Status

Chromosome

Chromosomal Location

71819492-71822376 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to A at 71819711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002469] [ENSMUST00000019169] [ENSMUST00000110051] [ENSMUST00000110052] [ENSMUST00000110053] [ENSMUST00000110054] [ENSMUST00000139541]

AlphaFold

Q9CQ56

Predicted Effect

probably benign
Transcript: ENSMUST00000002469

SMART Domains

Protein: ENSMUSP00000002469
Gene: ENSMUSG00000002396

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC
Pfam:Occludin_ELL	106	207	8.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019169

SMART Domains

Protein: ENSMUSP00000019169
Gene: ENSMUSG00000002395

Domain	Start	End	E-Value	Type
Pfam:Use1	15	266	9.7e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110051

SMART Domains

Protein: ENSMUSP00000105678
Gene: ENSMUSG00000002396

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110052

SMART Domains

Protein: ENSMUSP00000105679
Gene: ENSMUSG00000002396

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000110053
AA Change: E11K

SMART Domains

Protein: ENSMUSP00000105680
Gene: ENSMUSG00000002395
AA Change: E11K

Domain	Start	End	E-Value	Type
Pfam:Use1	30	280	4.6e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110054

SMART Domains

Protein: ENSMUSP00000105681
Gene: ENSMUSG00000002395

Domain	Start	End	E-Value	Type
Pfam:Use1	15	266	9.7e-110	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143657

Predicted Effect

probably benign
Transcript: ENSMUST00000139541

SMART Domains

Protein: ENSMUSP00000122406
Gene: ENSMUSG00000002395

Domain	Start	End	E-Value	Type
Pfam:Use1	15	74	2e-25	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene results in complete embryonic lethality prior to E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,977,913 (GRCm39)	D497G	probably benign	Het
Adgra2	A	T	8: 27,611,263 (GRCm39)	R856*	probably null	Het
Cfap90	T	G	13: 68,759,363 (GRCm39)	H112Q	probably damaging	Het
Chodl	T	A	16: 78,738,557 (GRCm39)	S138T	probably damaging	Het
Dnah8	C	T	17: 30,875,572 (GRCm39)	R465*	probably null	Het
Fgfr2	A	G	7: 129,786,978 (GRCm39)	W358R	probably damaging	Het
Iqgap2	G	T	13: 95,772,090 (GRCm39)	A1363E	possibly damaging	Het
Malt1	T	A	18: 65,582,087 (GRCm39)	I317K	probably benign	Het
Mrps5	A	G	2: 127,433,827 (GRCm39)	N72S	probably null	Het
Mst1r	T	A	9: 107,794,005 (GRCm39)		probably null	Het
Nars1	A	T	18: 64,640,929 (GRCm39)	C176S	probably damaging	Het
Nt5el	T	A	13: 105,256,338 (GRCm39)	M469K	probably damaging	Het
Or4l1	A	T	14: 50,166,555 (GRCm39)	W149R	probably damaging	Het
Plxna4	T	G	6: 32,192,139 (GRCm39)	D817A	possibly damaging	Het
Plxnb1	C	T	9: 108,930,052 (GRCm39)	P303S	probably benign	Het
Prkd2	G	T	7: 16,603,501 (GRCm39)		probably null	Het
Sulf1	A	T	1: 12,888,675 (GRCm39)	H320L	probably damaging	Het
Vmn2r6	T	C	3: 64,463,766 (GRCm39)	D356G	possibly damaging	Het

Other mutations in Use1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0442:Use1	UTSW	8	71,819,702 (GRCm39)	utr 5 prime	probably benign
R0690:Use1	UTSW	8	71,819,709 (GRCm39)	utr 5 prime	probably benign
R2372:Use1	UTSW	8	71,821,823 (GRCm39)	missense	possibly damaging	0.96
R4763:Use1	UTSW	8	71,819,952 (GRCm39)	missense	probably damaging	1.00
R5643:Use1	UTSW	8	71,820,398 (GRCm39)	intron	probably benign
R5705:Use1	UTSW	8	71,822,331 (GRCm39)	missense	probably damaging	1.00
R5908:Use1	UTSW	8	71,822,257 (GRCm39)	missense	probably damaging	1.00
R6783:Use1	UTSW	8	71,821,880 (GRCm39)	missense	probably damaging	1.00
R9008:Use1	UTSW	8	71,819,688 (GRCm39)	missense	unknown
R9022:Use1	UTSW	8	71,819,942 (GRCm39)	missense	probably benign	0.06
R9445:Use1	UTSW	8	71,821,200 (GRCm39)	missense	probably benign	0.42
R9570:Use1	UTSW	8	71,820,473 (GRCm39)	missense	possibly damaging	0.48

Posted On

2014-05-07