Mutagenetix > Incidental Mutation

Incidental Mutation 'R5705:Use1'

451925

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

043330-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5705 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71819492-71822376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71822331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 278 (R278L)

Ref Sequence

ENSEMBL: ENSMUSP00000105680 (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

probably damaging
Transcript: ENSMUST00000019169
AA Change: R264L

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

SMART Domains

Protein: ENSMUSP00000019169
Gene: ENSMUSG00000002395
AA Change: R264L

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

probably damaging
Transcript: ENSMUST00000110053
AA Change: R278L

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

SMART Domains

Protein: ENSMUSP00000105680
Gene: ENSMUSG00000002395
AA Change: R278L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110054
AA Change: R264L

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

SMART Domains

Protein: ENSMUSP00000105681
Gene: ENSMUSG00000002395
AA Change: R264L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137734

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,851,276 (GRCm39)	V2163A	probably benign	Het
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Ago1	T	C	4: 126,342,587 (GRCm39)	I519V	probably benign	Het
Arhgap4	G	A	X: 72,950,423 (GRCm39)	R43W	probably damaging	Het
Aurkb	T	A	11: 68,939,641 (GRCm39)	L213I	possibly damaging	Het
Bod1l	T	A	5: 41,974,345 (GRCm39)	Q2323L	probably benign	Het
Calhm5	A	T	10: 33,971,989 (GRCm39)	C149S	probably damaging	Het
Ccdc17	C	T	4: 116,454,066 (GRCm39)	T28I	probably benign	Het
Ccdc39	T	C	3: 33,871,086 (GRCm39)	E630G	probably damaging	Het
Cnih4	A	G	1: 180,981,300 (GRCm39)	I24V	probably benign	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Ctsr	A	G	13: 61,309,078 (GRCm39)	F226L	probably damaging	Het
Cyp2a22	T	C	7: 26,638,640 (GRCm39)	N49D	probably benign	Het
Defb23	C	T	2: 152,301,204 (GRCm39)	A123T	probably benign	Het
Dtx2	C	A	5: 136,039,149 (GRCm39)	D69E	probably damaging	Het
Eps8l1	T	C	7: 4,473,034 (GRCm39)	V91A	probably benign	Het
Eps8l3	C	A	3: 107,798,580 (GRCm39)	Q489K	probably benign	Het
Esyt3	A	G	9: 99,200,260 (GRCm39)	S645P	probably benign	Het
Fam161a	T	A	11: 22,978,869 (GRCm39)	M472K	unknown	Het
Glp2r	A	G	11: 67,600,565 (GRCm39)	V428A	probably benign	Het
Gnl1	G	A	17: 36,292,492 (GRCm39)	V191I	probably benign	Het
Hfm1	T	C	5: 107,059,319 (GRCm39)	I234M	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hs3st2	T	C	7: 120,992,305 (GRCm39)	L85P	probably damaging	Het
Igsf9	T	C	1: 172,322,338 (GRCm39)	V511A	possibly damaging	Het
Insyn2b	A	G	11: 34,354,349 (GRCm39)	Y473C	probably damaging	Het
Kcnma1	A	T	14: 24,053,839 (GRCm39)	C54S	possibly damaging	Het
Klhdc4	A	G	8: 122,531,732 (GRCm39)	V181A	probably benign	Het
Ldb3	T	C	14: 34,298,986 (GRCm39)	M213V	probably null	Het
Mertk	C	A	2: 128,613,321 (GRCm39)	Q446K	probably benign	Het
Ndufs1	A	G	1: 63,186,317 (GRCm39)	V46A	probably benign	Het
Neurod4	A	G	10: 130,107,271 (GRCm39)	M1T	probably null	Het
Nlrc5	T	A	8: 95,202,385 (GRCm39)	C162S	probably benign	Het
Pald1	A	G	10: 61,159,076 (GRCm39)	I785T	possibly damaging	Het
Pcmt1	T	C	10: 7,513,954 (GRCm39)	I224M	possibly damaging	Het
Pisd	C	T	5: 32,894,707 (GRCm39)	R533H	probably benign	Het
Plcxd3	C	A	15: 4,546,676 (GRCm39)	Q227K	probably benign	Het
Polr1b	A	T	2: 128,947,271 (GRCm39)	K199*	probably null	Het
Ppp1r10	T	C	17: 36,240,381 (GRCm39)	V557A	probably damaging	Het
Ralgapa2	A	G	2: 146,291,193 (GRCm39)	Y248H	probably damaging	Het
Rsrp1	T	C	4: 134,651,331 (GRCm39)	S32P	unknown	Het
Setdb2	T	G	14: 59,660,814 (GRCm39)	S110R	possibly damaging	Het
Srcin1	A	G	11: 97,439,777 (GRCm39)	C152R	probably benign	Het
Syk	A	G	13: 52,765,083 (GRCm39)	N70S	probably benign	Het
Tlr4	T	A	4: 66,752,217 (GRCm39)	D59E	probably damaging	Het
Tm9sf4	T	A	2: 153,024,378 (GRCm39)	I67N	probably benign	Het
Trim30b	T	A	7: 104,006,784 (GRCm39)	Y24F	probably damaging	Het
Tsga13	A	G	6: 30,876,951 (GRCm39)	S189P	probably damaging	Het
Tspan33	A	G	6: 29,717,232 (GRCm39)	D210G	probably benign	Het
Wwc1	T	C	11: 35,767,423 (GRCm39)	N403D	probably damaging	Het
Zfp263	C	T	16: 3,564,318 (GRCm39)	P203S	probably benign	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
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
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'- AAGTCATACTTGGGTCTCAGTCTTG -3'
(R):5'- TACGCCTTTGGAGCAGAGTG -3'

Sequencing Primer
(F):5'- CATACTTGGGTCTCAGTCTTGTTGAC -3'
(R):5'- CTTTGGAGCAGAGTGGCCAG -3'

Posted On

2017-01-03