Incidental Mutation 'R5705:Use1'
ID451925
Institutional Source Beutler Lab
Gene Symbol Use1
Ensembl Gene ENSMUSG00000002395
Gene Nameunconventional SNARE in the ER 1 homolog (S. cerevisiae)
Synonyms5730403H22Rik, mED2, Q-SNARE, D12, 2010315L10Rik
MMRRC Submission 043330-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5705 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location71366848-71369732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 71369687 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000002466
SMART Domains Protein: ENSMUSP00000002466
Gene: ENSMUSG00000002393

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Use1 15 266 9.7e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110051
SMART Domains Protein: ENSMUSP00000105678
Gene: ENSMUSG00000002396

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Use1 15 266 9.7e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137734
Predicted Effect probably benign
Transcript: ENSMUST00000139541
SMART Domains Protein: ENSMUSP00000122406
Gene: ENSMUSG00000002395

DomainStartEndE-ValueType
Pfam:Use1 15 74 2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155463
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 80,015,442 V2163A probably benign Het
Abcg3 G A 5: 104,968,170 A266V probably damaging Het
Ago1 T C 4: 126,448,794 I519V probably benign Het
Arhgap4 G A X: 73,906,817 R43W probably damaging Het
Aurkb T A 11: 69,048,815 L213I possibly damaging Het
Bod1l T A 5: 41,817,002 Q2323L probably benign Het
Ccdc17 C T 4: 116,596,869 T28I probably benign Het
Ccdc39 T C 3: 33,816,937 E630G probably damaging Het
Cnih4 A G 1: 181,153,735 I24V probably benign Het
Ctse C A 1: 131,664,374 T146K possibly damaging Het
Ctsr A G 13: 61,161,264 F226L probably damaging Het
Cyp2a22 T C 7: 26,939,215 N49D probably benign Het
Defb23 C T 2: 152,459,284 A123T probably benign Het
Dtx2 C A 5: 136,010,295 D69E probably damaging Het
Eps8l1 T C 7: 4,470,035 V91A probably benign Het
Eps8l3 C A 3: 107,891,264 Q489K probably benign Het
Esyt3 A G 9: 99,318,207 S645P probably benign Het
Fam161a T A 11: 23,028,869 M472K unknown Het
Fam196b A G 11: 34,404,349 Y473C probably damaging Het
Fam26e A T 10: 34,095,993 C149S probably damaging Het
Glp2r A G 11: 67,709,739 V428A probably benign Het
Gnl1 G A 17: 35,981,600 V191I probably benign Het
Hfm1 T C 5: 106,911,453 I234M probably benign Het
Hlx T C 1: 184,730,865 T197A probably benign Het
Hs3st2 T C 7: 121,393,082 L85P probably damaging Het
Igsf9 T C 1: 172,494,771 V511A possibly damaging Het
Kcnma1 A T 14: 24,003,771 C54S possibly damaging Het
Klhdc4 A G 8: 121,804,993 V181A probably benign Het
Ldb3 T C 14: 34,577,029 M213V probably null Het
Mertk C A 2: 128,771,401 Q446K probably benign Het
Ndufs1 A G 1: 63,147,158 V46A probably benign Het
Neurod4 A G 10: 130,271,402 M1T probably null Het
Nlrc5 T A 8: 94,475,757 C162S probably benign Het
Pald1 A G 10: 61,323,297 I785T possibly damaging Het
Pcmt1 T C 10: 7,638,190 I224M possibly damaging Het
Pisd C T 5: 32,737,363 R533H probably benign Het
Plcxd3 C A 15: 4,517,194 Q227K probably benign Het
Polr1b A T 2: 129,105,351 K199* probably null Het
Ppp1r10 T C 17: 35,929,489 V557A probably damaging Het
Ralgapa2 A G 2: 146,449,273 Y248H probably damaging Het
Rsrp1 T C 4: 134,924,020 S32P unknown Het
Setdb2 T G 14: 59,423,365 S110R possibly damaging Het
Srcin1 A G 11: 97,548,951 C152R probably benign Het
Syk A G 13: 52,611,047 N70S probably benign Het
Tlr4 T A 4: 66,833,980 D59E probably damaging Het
Tm9sf4 T A 2: 153,182,458 I67N probably benign Het
Trim30b T A 7: 104,357,577 Y24F probably damaging Het
Tsga13 A G 6: 30,900,016 S189P probably damaging Het
Tspan33 A G 6: 29,717,233 D210G probably benign Het
Wwc1 T C 11: 35,876,596 N403D probably damaging Het
Zfp263 C T 16: 3,746,454 P203S probably benign Het
Other mutations in Use1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01968:Use1 APN 8 71367067 utr 5 prime probably benign
R0442:Use1 UTSW 8 71367058 utr 5 prime probably benign
R0690:Use1 UTSW 8 71367065 utr 5 prime probably benign
R2372:Use1 UTSW 8 71369179 missense possibly damaging 0.96
R4763:Use1 UTSW 8 71367308 missense probably damaging 1.00
R5643:Use1 UTSW 8 71367754 intron probably benign
R5908:Use1 UTSW 8 71369613 missense probably damaging 1.00
R6783:Use1 UTSW 8 71369236 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCATACTTGGGTCTCAGTCTTG -3'
(R):5'- TACGCCTTTGGAGCAGAGTG -3'

Sequencing Primer
(F):5'- CATACTTGGGTCTCAGTCTTGTTGAC -3'
(R):5'- CTTTGGAGCAGAGTGGCCAG -3'
Posted On2017-01-03