Mutagenetix > Incidental Mutation

Incidental Mutation 'R2372:Use1'

248172

Institutional Source

Beutler Lab

Gene Symbol

Use1

Ensembl Gene

ENSMUSG00000002395

Gene Name

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

Synonyms

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

MMRRC Submission

040352-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71819492-71822376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71821823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 169 (L169P)

Ref Sequence

ENSEMBL: ENSMUSP00000105681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002466] [ENSMUST00000002469] [ENSMUST00000019169] [ENSMUST00000110051] [ENSMUST00000110052] [ENSMUST00000110053] [ENSMUST00000110054] [ENSMUST00000139541]

AlphaFold

Q9CQ56

Predicted Effect

probably benign
Transcript: ENSMUST00000002466

SMART Domains

Protein: ENSMUSP00000002466
Gene: ENSMUSG00000002393

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
ZnF_C4	54	125	1.48e-38	SMART
low complexity region	173	185	N/A	INTRINSIC
HOLI	191	351	1.07e-39	SMART

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

possibly damaging
Transcript: ENSMUST00000019169
AA Change: L169P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019169
Gene: ENSMUSG00000002395
AA Change: L169P

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

possibly damaging
Transcript: ENSMUST00000110053
AA Change: L183P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105680
Gene: ENSMUSG00000002395
AA Change: L183P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110054
AA Change: L169P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105681
Gene: ENSMUSG00000002395
AA Change: L169P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132630

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

Meta Mutation Damage Score

0.9074

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

97% (36/37)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,009,704 (GRCm39)	L135S	probably damaging	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Alpi	G	T	1: 87,028,316 (GRCm39)	T169N	probably damaging	Het
Ccdc15	T	C	9: 37,226,801 (GRCm39)	D378G	possibly damaging	Het
Cpb2	T	G	14: 75,505,490 (GRCm39)	V162G	probably damaging	Het
Dnmbp	T	C	19: 43,890,759 (GRCm39)	E336G	probably benign	Het
Dok6	G	C	18: 89,432,988 (GRCm39)	R274G	probably null	Het
Eef1d	G	A	15: 75,768,166 (GRCm39)	R199C	probably damaging	Het
Epha8	T	C	4: 136,660,321 (GRCm39)	Y714C	probably damaging	Het
Fyb1	T	C	15: 6,681,388 (GRCm39)		probably benign	Het
Gfpt2	A	G	11: 49,698,542 (GRCm39)	N46D	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm11596	C	A	11: 99,684,082 (GRCm39)	E13*	probably null	Het
Gsx2	T	C	5: 75,237,713 (GRCm39)	F222L	probably damaging	Het
Hpca	T	A	4: 129,012,237 (GRCm39)	K100*	probably null	Het
Iqsec1	A	G	6: 90,671,636 (GRCm39)	S89P	probably damaging	Het
Kif12	T	A	4: 63,086,796 (GRCm39)	T347S	possibly damaging	Het
Knop1	A	G	7: 118,452,440 (GRCm39)	L93S	probably damaging	Het
Mib1	A	G	18: 10,812,045 (GRCm39)	T981A	probably damaging	Het
N4bp2l1	C	T	5: 150,496,246 (GRCm39)	E123K	probably damaging	Het
Npr2	C	T	4: 43,650,432 (GRCm39)	R976W	probably damaging	Het
Rbpj	T	C	5: 53,799,537 (GRCm39)		probably benign	Het
Ro60	C	A	1: 143,646,620 (GRCm39)	E42*	probably null	Het
Ruvbl1	T	C	6: 88,462,779 (GRCm39)	V301A	possibly damaging	Het
Sgip1	T	C	4: 102,766,988 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,716,840 (GRCm39)	I361T	probably benign	Het
Skint1	T	A	4: 111,876,348 (GRCm39)	Y90N	probably damaging	Het
Slc25a45	G	A	19: 5,934,580 (GRCm39)	V183I	probably benign	Het
Slco4c1	T	A	1: 96,748,925 (GRCm39)	H664L	probably benign	Het
Sult2a4	T	A	7: 13,649,225 (GRCm39)	I194L	probably benign	Het
Tecta	C	A	9: 42,299,570 (GRCm39)	D173Y	probably damaging	Het
Tnrc18	T	A	5: 142,745,459 (GRCm39)		probably benign	Het
Zfp335	A	G	2: 164,736,959 (GRCm39)	L918P	probably damaging	Het
Zfp451	A	T	1: 33,819,133 (GRCm39)		probably null	Het

Other mutations in Use1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01968:Use1	APN	8	71,819,711 (GRCm39)	utr 5 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTATAAGGACCAGCTGCC -3'
(R):5'- CAGAGCTTTCTGAGGCAGAC -3'

Sequencing Primer
(F):5'- CTGCTGTTCCCAGAATGTAAAAGAGC -3'
(R):5'- CTTTCTGAGGCAGACAGAGGC -3'

Posted On

2014-11-11