Incidental Mutation 'R0442:Use1'
ID 39221
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 038643-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0442 (G1)
Quality Score 82
Status Validated
Chromosome 8
Chromosomal Location 71819492-71822376 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 71819702 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

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 benign
Transcript: ENSMUST00000019169
SMART Domains Protein: ENSMUSP00000019169
Gene: ENSMUSG00000002395

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 unknown
Transcript: ENSMUST00000110053
AA Change: S8P
SMART Domains Protein: ENSMUSP00000105680
Gene: ENSMUSG00000002395
AA Change: S8P

DomainStartEndE-ValueType
Pfam:Use1 30 280 4.6e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110054
SMART Domains Protein: ENSMUSP00000105681
Gene: ENSMUSG00000002395

DomainStartEndE-ValueType
Pfam:Use1 15 266 9.7e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143657
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 probably benign
Transcript: ENSMUST00000139541
SMART Domains Protein: ENSMUSP00000122406
Gene: ENSMUSG00000002395

DomainStartEndE-ValueType
Pfam:Use1 15 74 2e-25 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.5%
  • 10x: 93.4%
  • 20x: 81.2%
Validation Efficiency 99% (70/71)
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
Adgrb3 T A 1: 25,435,551 (GRCm39) N816Y probably damaging Het
Arfgef3 T C 10: 18,553,563 (GRCm39) probably benign Het
Cd200 T A 16: 45,217,518 (GRCm39) S58C probably damaging Het
Cep128 C T 12: 91,233,545 (GRCm39) E508K probably damaging Het
Dnah2 C A 11: 69,339,368 (GRCm39) L3046F probably damaging Het
Duox2 T C 2: 122,119,813 (GRCm39) N872D probably benign Het
Fam90a1a C T 8: 22,453,074 (GRCm39) T143I probably benign Het
Fdft1 T C 14: 63,400,798 (GRCm39) T112A probably benign Het
Gimap9 G T 6: 48,655,000 (GRCm39) G196* probably null Het
Grhl1 G A 12: 24,662,169 (GRCm39) R536Q probably damaging Het
Gtpbp3 T A 8: 71,944,135 (GRCm39) V293E probably damaging Het
Hcn3 A T 3: 89,058,847 (GRCm39) F251Y probably damaging Het
Hectd4 T A 5: 121,462,045 (GRCm39) C971S possibly damaging Het
Helz2 T A 2: 180,874,002 (GRCm39) D2164V probably damaging Het
Hif1an T G 19: 44,554,451 (GRCm39) L188R probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iqgap3 C T 3: 88,023,266 (GRCm39) P519L probably damaging Het
Jakmip1 T G 5: 37,292,897 (GRCm39) probably null Het
Klra1 T C 6: 130,349,835 (GRCm39) Y201C probably damaging Het
Minpp1 T C 19: 32,471,348 (GRCm39) F299L possibly damaging Het
Myb A G 10: 21,002,095 (GRCm39) S749P probably benign Het
Myo3b T C 2: 70,069,305 (GRCm39) probably null Het
Naip1 T A 13: 100,581,024 (GRCm39) R74S probably benign Het
Nt5m A G 11: 59,765,445 (GRCm39) T158A possibly damaging Het
Obscn A T 11: 58,893,000 (GRCm39) probably benign Het
Or5af1 T A 11: 58,722,257 (GRCm39) Y92* probably null Het
Or5b119 T G 19: 13,457,412 (GRCm39) D50A probably damaging Het
Or6c210 T C 10: 129,495,693 (GRCm39) I6T probably benign Het
Otogl T A 10: 107,712,716 (GRCm39) T543S probably damaging Het
Pds5b T C 5: 150,640,009 (GRCm39) probably benign Het
Plekhm1 A G 11: 103,288,000 (GRCm39) M49T possibly damaging Het
Rabl6 A T 2: 25,477,534 (GRCm39) S305R probably damaging Het
Rad54b G A 4: 11,609,480 (GRCm39) probably benign Het
Rad54b C A 4: 11,610,362 (GRCm39) R660S probably benign Het
Rexo5 T C 7: 119,442,508 (GRCm39) L542P probably damaging Het
Rp1 C T 1: 4,416,970 (GRCm39) D1381N probably benign Het
Scnn1a T G 6: 125,316,100 (GRCm39) M346R probably damaging Het
Sirpb1c A G 3: 15,856,710 (GRCm39) I380T probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sstr3 A T 15: 78,424,597 (GRCm39) L50Q probably damaging Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
Sun5 T C 2: 153,712,872 (GRCm39) D16G possibly damaging Het
Svil A T 18: 5,046,870 (GRCm39) T39S probably damaging Het
Taar1 A G 10: 23,796,380 (GRCm39) Y26C possibly damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Usp54 T C 14: 20,657,277 (GRCm39) Y7C probably damaging Het
Zbtb37 A G 1: 160,859,918 (GRCm39) F129S possibly damaging Het
Zfhx2 T C 14: 55,304,357 (GRCm39) H1209R possibly damaging Het
Zfp28 T C 7: 6,397,998 (GRCm39) L811P probably damaging Het
Zfp616 T C 11: 73,975,321 (GRCm39) I530T possibly damaging Het
Other mutations in Use1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01968:Use1 APN 8 71,819,711 (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
Predicted Primers PCR Primer
(F):5'- AACTGACACGTCATCAAGCAGGG -3'
(R):5'- AAGCAGCCGTACCAGGTTCAACTC -3'

Sequencing Primer
(F):5'- AGGTCAAGGTTCCCGCTAC -3'
(R):5'- CTGCGCCATCTTAGAAAAGG -3'
Posted On 2013-05-23