Incidental Mutation 'R0026:Uchl4'
ID18678
Institutional Source Beutler Lab
Gene Symbol Uchl4
Ensembl Gene ENSMUSG00000035337
Gene Nameubiquitin carboxyl-terminal esterase L4
Synonyms
MMRRC Submission 038321-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0026 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location64235201-64236362 bp(+) (GRCm38)
Type of Mutationintron (17842 bp from exon)
DNA Base Change (assembly) A to T at 64235371 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005066] [ENSMUST00000039011]
Predicted Effect probably null
Transcript: ENSMUST00000005066
SMART Domains Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936

DomainStartEndE-ValueType
low complexity region 30 51 N/A INTRINSIC
S_TKc 68 361 4.44e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000039011
AA Change: I45L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: I45L

DomainStartEndE-ValueType
Pfam:Peptidase_C12 6 217 2.2e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214497
Meta Mutation Damage Score 0.1212 question?
Coding Region Coverage
  • 1x: 78.7%
  • 3x: 68.7%
  • 10x: 42.4%
  • 20x: 22.6%
Validation Efficiency 96% (75/78)
MGI Phenotype Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration.,NO_PHENOTYPE
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T A 1: 26,683,369 D910V probably benign Het
Abca16 C T 7: 120,477,923 probably benign Het
Acot10 G A 15: 20,666,236 L140F probably benign Het
Asph A C 4: 9,601,361 S129A probably damaging Het
Atrn T C 2: 130,957,920 Y406H probably damaging Het
B4galt3 C T 1: 171,274,261 probably benign Het
BC016579 T C 16: 45,640,367 T113A probably benign Het
Bmpr1b A G 3: 141,870,733 L113P probably benign Het
Casq1 T C 1: 172,219,400 probably benign Het
Ccdc187 T C 2: 26,281,353 D371G probably benign Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cyp4b1 C T 4: 115,647,521 G56D possibly damaging Het
Dock5 C A 14: 67,846,081 E126D probably benign Het
Exph5 A T 9: 53,376,479 D1620V probably benign Het
Fancd2os G T 6: 113,597,691 T118N probably damaging Het
Fli1 A G 9: 32,476,584 Y37H probably damaging Het
Gm17521 G A X: 123,029,542 S43L probably benign Het
Gnb3 A G 6: 124,837,417 V135A probably benign Het
Ibtk A G 9: 85,690,303 V1278A probably benign Het
Ighv1-58 G A 12: 115,312,287 T77I probably benign Het
Lgsn T A 1: 31,203,443 V202D probably damaging Het
Madd A G 2: 91,175,708 F381L possibly damaging Het
Ntf3 T A 6: 126,101,805 N246I probably damaging Het
Pds5b G A 5: 150,749,830 probably benign Het
Ppp3cb C T 14: 20,531,768 V60I probably benign Het
Prc1 T C 7: 80,311,061 probably benign Het
Prpf31 T A 7: 3,639,668 N413K probably benign Het
Rapgef5 T C 12: 117,689,161 S307P probably benign Het
Rbfox2 T C 15: 77,084,157 T435A possibly damaging Het
Senp1 T C 15: 98,076,668 R88G probably damaging Het
Slc35b1 T C 11: 95,390,642 S294P probably benign Het
Slc44a5 G A 3: 154,240,270 probably benign Het
Taf1d T A 9: 15,308,648 S64R probably damaging Het
Trim6 T A 7: 104,225,809 probably null Het
Ttn T C 2: 76,769,190 T19186A probably damaging Het
Usp32 T C 11: 85,032,074 S673G possibly damaging Het
Utrn T C 10: 12,726,196 probably benign Het
Vps13b T C 15: 35,923,301 I3774T possibly damaging Het
Vwa3a A G 7: 120,780,211 Q513R probably damaging Het
Yipf1 T A 4: 107,345,160 L240* probably null Het
Other mutations in Uchl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Uchl4 APN 9 64235716 missense possibly damaging 0.82
IGL01710:Uchl4 APN 9 64235506 missense probably benign 0.20
IGL02030:Uchl4 APN 9 64235629 missense probably benign
IGL02739:Uchl4 APN 9 64235537 missense probably damaging 1.00
R0026:Uchl4 UTSW 9 64235371 intron probably null
R1572:Uchl4 UTSW 9 64235731 missense probably benign
R1801:Uchl4 UTSW 9 64235475 missense probably benign
R2113:Uchl4 UTSW 9 64235536 missense probably damaging 1.00
R4042:Uchl4 UTSW 9 64235557 missense probably benign 0.00
R4500:Uchl4 UTSW 9 64235881 missense possibly damaging 0.96
R4625:Uchl4 UTSW 9 64235798 missense probably damaging 1.00
R5176:Uchl4 UTSW 9 64235740 nonsense probably null
R5364:Uchl4 UTSW 9 64235539 missense possibly damaging 0.88
R6581:Uchl4 UTSW 9 64235793 missense possibly damaging 0.93
R7134:Uchl4 UTSW 9 64235339 missense probably damaging 1.00
R7451:Uchl4 UTSW 9 64235731 missense probably benign
Posted On2013-03-25