Incidental Mutation 'IGL00664:Elac2'
ID 13445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elac2
Ensembl Gene ENSMUSG00000020549
Gene Name elaC ribonuclease Z 2
Synonyms tRNase Z(L), D11Wsu80e, 1110017O07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00664
Quality Score
Status
Chromosome 11
Chromosomal Location 64869864-64892895 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64871476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 129 (V129A)
Ref Sequence ENSEMBL: ENSMUSP00000098610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071891] [ENSMUST00000101049] [ENSMUST00000108697] [ENSMUST00000132308]
AlphaFold Q80Y81
Predicted Effect possibly damaging
Transcript: ENSMUST00000071891
AA Change: V129A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: V129A

DomainStartEndE-ValueType
Pfam:Lactamase_B_4 53 112 1.5e-16 PFAM
Lactamase_B 494 698 1.75e0 SMART
low complexity region 772 791 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000101049
AA Change: V129A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: V129A

DomainStartEndE-ValueType
Pfam:Lactamase_B_4 53 112 3.1e-17 PFAM
Lactamase_B 494 698 1.75e0 SMART
low complexity region 772 791 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108697
AA Change: V129A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: V129A

DomainStartEndE-ValueType
Pfam:Lactamase_B_4 53 112 9.8e-19 PFAM
Lactamase_B 493 697 1.75e0 SMART
low complexity region 771 790 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132308
SMART Domains Protein: ENSMUSP00000117422
Gene: ENSMUSG00000020549

DomainStartEndE-ValueType
Blast:Lactamase_B 29 95 6e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142574
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,079,006 (GRCm39) V406E probably benign Het
Bptf T A 11: 106,968,491 (GRCm39) D1001V possibly damaging Het
Clca3a1 G A 3: 144,733,660 (GRCm39) T92M probably benign Het
Fyb2 T C 4: 104,872,913 (GRCm39) I762T probably damaging Het
Ifna4 T C 4: 88,760,336 (GRCm39) V80A probably benign Het
Other mutations in Elac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Elac2 APN 11 64,892,661 (GRCm39) missense probably benign
IGL02407:Elac2 APN 11 64,890,001 (GRCm39) missense probably benign 0.01
R0329:Elac2 UTSW 11 64,870,136 (GRCm39) missense probably damaging 1.00
R0360:Elac2 UTSW 11 64,870,136 (GRCm39) missense probably damaging 1.00
R0364:Elac2 UTSW 11 64,870,136 (GRCm39) missense probably damaging 1.00
R0526:Elac2 UTSW 11 64,890,262 (GRCm39) missense probably benign 0.07
R0729:Elac2 UTSW 11 64,889,349 (GRCm39) missense possibly damaging 0.62
R1912:Elac2 UTSW 11 64,885,089 (GRCm39) missense probably benign
R1929:Elac2 UTSW 11 64,870,015 (GRCm39) missense probably benign 0.00
R2345:Elac2 UTSW 11 64,891,900 (GRCm39) missense probably damaging 0.99
R4765:Elac2 UTSW 11 64,883,048 (GRCm39) missense probably damaging 1.00
R4828:Elac2 UTSW 11 64,886,153 (GRCm39) missense probably damaging 1.00
R5000:Elac2 UTSW 11 64,876,379 (GRCm39) missense probably benign
R5109:Elac2 UTSW 11 64,883,142 (GRCm39) missense probably damaging 1.00
R5391:Elac2 UTSW 11 64,885,120 (GRCm39) missense probably benign
R5865:Elac2 UTSW 11 64,888,783 (GRCm39) missense probably benign 0.39
R5953:Elac2 UTSW 11 64,890,049 (GRCm39) missense probably benign 0.00
R6800:Elac2 UTSW 11 64,890,265 (GRCm39) critical splice donor site probably null
R6829:Elac2 UTSW 11 64,880,190 (GRCm39) missense probably benign
R6870:Elac2 UTSW 11 64,890,589 (GRCm39) missense probably null 1.00
R7037:Elac2 UTSW 11 64,874,537 (GRCm39) missense probably benign
R7869:Elac2 UTSW 11 64,890,213 (GRCm39) missense probably damaging 0.99
R8087:Elac2 UTSW 11 64,870,034 (GRCm39) missense probably benign 0.14
R8139:Elac2 UTSW 11 64,871,440 (GRCm39) missense probably benign 0.28
R8559:Elac2 UTSW 11 64,872,502 (GRCm39) critical splice donor site probably null
R9197:Elac2 UTSW 11 64,892,682 (GRCm39) missense probably benign
R9211:Elac2 UTSW 11 64,869,864 (GRCm39) unclassified probably benign
R9291:Elac2 UTSW 11 64,883,142 (GRCm39) missense probably damaging 1.00
X0020:Elac2 UTSW 11 64,878,284 (GRCm39) missense probably damaging 0.96
Z1186:Elac2 UTSW 11 64,870,015 (GRCm39) missense probably benign
Z1187:Elac2 UTSW 11 64,870,015 (GRCm39) missense probably benign
Z1188:Elac2 UTSW 11 64,870,015 (GRCm39) missense probably benign
Z1189:Elac2 UTSW 11 64,870,015 (GRCm39) missense probably benign
Z1190:Elac2 UTSW 11 64,870,015 (GRCm39) missense probably benign
Z1191:Elac2 UTSW 11 64,870,015 (GRCm39) missense probably benign
Z1192:Elac2 UTSW 11 64,870,015 (GRCm39) missense probably benign
Posted On 2012-12-06