Mutagenetix > Incidental Mutation

Incidental Mutation 'R9022:Use1'

686287

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

068852-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71819492-71822376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71819942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 36 (V36I)

Ref Sequence

ENSEMBL: ENSMUSP00000105680 (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
AA Change: V22I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000019169
Gene: ENSMUSG00000002395
AA Change: V22I

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 benign
Transcript: ENSMUST00000110053
AA Change: V36I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105680
Gene: ENSMUSG00000002395
AA Change: V36I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110054
AA Change: V22I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105681
Gene: ENSMUSG00000002395
AA Change: V22I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139541
AA Change: V22I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122406
Gene: ENSMUSG00000002395
AA Change: V22I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (84/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	T	3: 32,769,649 (GRCm39)	A155S	probably benign	Het
Adar	A	G	3: 89,643,045 (GRCm39)	T309A	probably benign	Het
Adgrv1	A	T	13: 81,303,312 (GRCm39)	W6125R	probably damaging	Het
Adprhl1	A	G	8: 13,274,352 (GRCm39)	L802P	probably benign	Het
Ahcy	A	G	2: 154,910,779 (GRCm39)	L63P	probably damaging	Het
Ang5	G	A	14: 44,200,352 (GRCm39)	D139N	probably damaging	Het
Ankrd31	A	G	13: 96,962,655 (GRCm39)	D482G	probably benign	Het
Arhgef7	A	G	8: 11,850,469 (GRCm39)	N257D	probably benign	Het
Art3	C	A	5: 92,540,393 (GRCm39)	S45R	probably benign	Het
Atxn1	T	C	13: 45,720,891 (GRCm39)	R335G	probably damaging	Het
Bag6	T	A	17: 35,363,641 (GRCm39)	L775H	probably damaging	Het
BC004004	T	G	17: 29,501,130 (GRCm39)	H26Q	possibly damaging	Het
Camsap3	T	C	8: 3,656,575 (GRCm39)	L986S	probably benign	Het
Cbx5	T	C	15: 103,121,586 (GRCm39)	E17G	probably damaging	Het
Cc2d1b	T	C	4: 108,484,617 (GRCm39)		probably null	Het
Ccdc59	T	C	10: 105,683,007 (GRCm39)	Y231H	probably damaging	Het
Cemip2	T	C	19: 21,789,986 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,917,854 (GRCm39)		probably null	Het
Cybrd1	A	G	2: 70,967,904 (GRCm39)	I158M	possibly damaging	Het
Disp2	T	A	2: 118,621,179 (GRCm39)	I637N	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,512,116 (GRCm39)		probably null	Het
Duox2	C	A	2: 122,110,919 (GRCm39)	*1518L	probably null	Het
Dym	A	G	18: 75,258,507 (GRCm39)	I422V	probably benign	Het
Entpd8	A	C	2: 24,975,144 (GRCm39)	I492L	probably benign	Het
Fabp12	A	G	3: 10,317,333 (GRCm39)	S13P	probably damaging	Het
Fam124b	A	G	1: 80,190,705 (GRCm39)	I226T	probably damaging	Het
Fer1l6	T	C	15: 58,455,329 (GRCm39)	L763P	probably damaging	Het
Git2	A	G	5: 114,907,676 (GRCm39)		probably null	Het
Gltpd2	A	T	11: 70,410,153 (GRCm39)	Y37F	probably benign	Het
Gm44511	T	G	6: 128,797,271 (GRCm39)	Q72H	possibly damaging	Het
Grid2ip	A	T	5: 143,366,204 (GRCm39)	T565S	probably benign	Het
Grk6	T	C	13: 55,606,877 (GRCm39)	S532P	possibly damaging	Het
Haspin	A	T	11: 73,026,831 (GRCm39)	F753I	probably damaging	Het
Herpud1	T	A	8: 95,116,197 (GRCm39)	S92T	possibly damaging	Het
Heyl	C	T	4: 123,139,768 (GRCm39)	A109V	probably damaging	Het
Hivep3	T	C	4: 119,955,304 (GRCm39)	S1207P	probably benign	Het
Hk1	A	G	10: 62,105,768 (GRCm39)	S893P	probably damaging	Het
Itih1	C	A	14: 30,652,327 (GRCm39)	V789L	probably benign	Het
Kif12	T	C	4: 63,090,121 (GRCm39)	D10G	possibly damaging	Het
Kif16b	C	T	2: 142,554,537 (GRCm39)	E754K	possibly damaging	Het
Kif20a	A	G	18: 34,760,898 (GRCm39)	Q191R	probably benign	Het
Lap3	A	G	5: 45,652,548 (GRCm39)	D48G	probably benign	Het
Matn3	T	A	12: 9,002,355 (GRCm39)	V189E	probably damaging	Het
Mbp	G	A	18: 82,597,067 (GRCm39)	E143K	possibly damaging	Het
Mrgprd	A	G	7: 144,875,555 (GRCm39)	H142R	probably benign	Het
Nbea	A	T	3: 55,551,110 (GRCm39)	C2685S	possibly damaging	Het
Nhsl1	A	C	10: 18,403,409 (GRCm39)	I1381L	possibly damaging	Het
Npc1	A	G	18: 12,346,422 (GRCm39)	M258T	probably benign	Het
Or2w3	T	C	11: 58,556,550 (GRCm39)	L55P	probably damaging	Het
Or7e178	T	A	9: 20,225,268 (GRCm39)	N316I	probably damaging	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdia4	C	G	6: 47,785,149 (GRCm39)	A73P	probably benign	Het
Plxnb2	T	C	15: 89,048,471 (GRCm39)	Y646C	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pold2	T	C	11: 5,824,121 (GRCm39)	D228G	probably benign	Het
Popdc2	T	G	16: 38,194,508 (GRCm39)	C310G	probably benign	Het
Prdm10	A	G	9: 31,268,424 (GRCm39)	Y791C	probably benign	Het
Psg19	C	T	7: 18,530,762 (GRCm39)	V131I	probably benign	Het
Psg19	T	A	7: 18,531,044 (GRCm39)	T37S	probably benign	Het
Psme1	A	G	14: 55,817,271 (GRCm39)	E39G	probably damaging	Het
Rabep2	A	G	7: 126,043,719 (GRCm39)	E472G	probably damaging	Het
Rap1gap	T	C	4: 137,445,309 (GRCm39)	F297S	probably damaging	Het
Reln	A	G	5: 22,181,613 (GRCm39)	S1757P	possibly damaging	Het
Rybp	G	T	6: 100,210,074 (GRCm39)	D95E	possibly damaging	Het
Slc12a8	T	A	16: 33,466,934 (GRCm39)	D480E	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc25a24	A	T	3: 109,070,757 (GRCm39)	D372V	probably benign	Het
Slc49a4	T	C	16: 35,570,912 (GRCm39)	T131A	probably benign	Het
Stab1	T	C	14: 30,882,226 (GRCm39)	T490A	probably benign	Het
Stat5b	A	T	11: 100,681,634 (GRCm39)	I540N	probably benign	Het
Tasor2	A	G	13: 3,626,659 (GRCm39)	V1097A	probably benign	Het
Thy1	T	A	9: 43,957,947 (GRCm39)	L25Q	probably damaging	Het
Trim30a	A	G	7: 104,084,956 (GRCm39)	S85P	probably benign	Het
Vmn1r228	T	A	17: 20,996,778 (GRCm39)	I247F	probably damaging	Het
Vmn2r13	T	A	5: 109,304,242 (GRCm39)	T730S	possibly damaging	Het
Vmn2r9	T	C	5: 108,992,923 (GRCm39)	D529G	possibly damaging	Het
Washc5	A	G	15: 59,217,233 (GRCm39)	I778T	possibly damaging	Het
Washc5	A	T	15: 59,233,069 (GRCm39)	M294K	probably damaging	Het
Wnt8a	A	T	18: 34,680,298 (GRCm39)	D221V	probably damaging	Het
Zfp616	A	G	11: 73,976,539 (GRCm39)	K936R	probably damaging	Het
Zfp618	G	A	4: 63,012,687 (GRCm39)	C133Y	probably damaging	Het
Zfp82	A	G	7: 29,761,714 (GRCm39)	S56P	probably damaging	Het
Zkscan16	T	A	4: 58,957,021 (GRCm39)	D434E	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
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
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'- GGCCAGGTATCAAGACCATC -3'
(R):5'- AACTAGGACGTCAGGGGTTACG -3'

Sequencing Primer
(F):5'- CAGGGACGAAAACGATTTATCTTTG -3'
(R):5'- TCAGGGGTTACGCACGAG -3'

Posted On

2021-10-11