Incidental Mutation 'IGL02035:Elac2'
ID184489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elac2
Ensembl Gene ENSMUSG00000020549
Gene NameelaC ribonuclease Z 2
Synonyms1110017O07Rik, tRNase Z(L), D11Wsu80e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02035
Quality Score
Status
Chromosome11
Chromosomal Location64979038-65002069 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65001835 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 822 (S822G)
Ref Sequence ENSEMBL: ENSMUSP00000071788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047463] [ENSMUST00000071891] [ENSMUST00000093002] [ENSMUST00000101049] [ENSMUST00000108697]
Predicted Effect probably benign
Transcript: ENSMUST00000047463
SMART Domains Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389

DomainStartEndE-ValueType
BAR 1 242 2.27e-71 SMART
RhoGAP 266 442 1.07e-66 SMART
low complexity region 530 556 N/A INTRINSIC
low complexity region 561 575 N/A INTRINSIC
low complexity region 592 606 N/A INTRINSIC
low complexity region 616 631 N/A INTRINSIC
low complexity region 664 689 N/A INTRINSIC
low complexity region 695 707 N/A INTRINSIC
low complexity region 716 746 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071891
AA Change: S822G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: S822G

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 probably benign
Transcript: ENSMUST00000093002
SMART Domains Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389

DomainStartEndE-ValueType
BAR 1 242 2.27e-71 SMART
RhoGAP 266 442 1.07e-66 SMART
low complexity region 536 562 N/A INTRINSIC
low complexity region 567 581 N/A INTRINSIC
low complexity region 598 612 N/A INTRINSIC
low complexity region 622 637 N/A INTRINSIC
low complexity region 670 695 N/A INTRINSIC
low complexity region 701 713 N/A INTRINSIC
low complexity region 722 752 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101049
SMART Domains Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549

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 probably benign
Transcript: ENSMUST00000108697
SMART Domains Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549

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 noncoding transcript
Transcript: ENSMUST00000128693
Predicted Effect probably benign
Transcript: ENSMUST00000130420
SMART Domains Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389

DomainStartEndE-ValueType
Pfam:BAR 1 117 1.1e-29 PFAM
RhoGAP 141 317 1.07e-66 SMART
low complexity region 411 437 N/A INTRINSIC
low complexity region 442 456 N/A INTRINSIC
low complexity region 473 487 N/A INTRINSIC
low complexity region 497 512 N/A INTRINSIC
low complexity region 545 570 N/A INTRINSIC
low complexity region 576 588 N/A INTRINSIC
low complexity region 597 627 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140369
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik G T 17: 25,947,162 H384N probably benign Het
Ahctf1 A T 1: 179,766,014 I1135N probably benign Het
Atl1 A G 12: 69,960,544 probably benign Het
Atr A G 9: 95,866,682 N427D probably benign Het
Chd2 T C 7: 73,441,627 probably null Het
Cnot4 A T 6: 35,070,251 V142D probably damaging Het
Ctnnd1 A T 2: 84,620,081 V265E probably damaging Het
Ddx27 G T 2: 167,029,512 V510F probably benign Het
Fat3 A T 9: 16,377,970 F86I probably benign Het
Fbn1 T A 2: 125,335,362 probably null Het
Fgd4 C T 16: 16,490,416 probably benign Het
Furin T C 7: 80,390,987 E701G probably benign Het
Fzd2 A G 11: 102,606,444 *571W probably null Het
Gm9 A T X: 37,210,891 H3Q probably benign Het
Jak2 T C 19: 29,286,408 V441A probably benign Het
Kcnj3 T A 2: 55,437,578 N126K probably damaging Het
Lca5 T C 9: 83,423,312 E147G probably damaging Het
Magt1 G T X: 105,983,776 probably null Het
Nkx6-2 A T 7: 139,581,685 W195R probably damaging Het
Nt5c1a A T 4: 123,214,102 S193C possibly damaging Het
Olfr812 A G 10: 129,842,790 L84P possibly damaging Het
Os9 G A 10: 127,096,291 P604S possibly damaging Het
Pecam1 C T 11: 106,695,859 A277T probably benign Het
Polr1c A G 17: 46,246,159 V66A possibly damaging Het
Proser1 T C 3: 53,478,830 V711A probably benign Het
Sbp A G 17: 23,942,612 N19S possibly damaging Het
Sh3bp4 A G 1: 89,143,690 T87A probably benign Het
Vmn1r59 A T 7: 5,454,209 I184N possibly damaging Het
Zcchc14 T C 8: 121,604,615 probably benign Het
Other mutations in Elac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00664:Elac2 APN 11 64980650 missense possibly damaging 0.92
IGL02407:Elac2 APN 11 64999175 missense probably benign 0.01
R0329:Elac2 UTSW 11 64979310 missense probably damaging 1.00
R0360:Elac2 UTSW 11 64979310 missense probably damaging 1.00
R0364:Elac2 UTSW 11 64979310 missense probably damaging 1.00
R0526:Elac2 UTSW 11 64999436 missense probably benign 0.07
R0729:Elac2 UTSW 11 64998523 missense possibly damaging 0.62
R1912:Elac2 UTSW 11 64994263 missense probably benign
R1929:Elac2 UTSW 11 64979189 missense probably benign 0.00
R2345:Elac2 UTSW 11 65001074 missense probably damaging 0.99
R4765:Elac2 UTSW 11 64992222 missense probably damaging 1.00
R4828:Elac2 UTSW 11 64995327 missense probably damaging 1.00
R5000:Elac2 UTSW 11 64985553 missense probably benign
R5109:Elac2 UTSW 11 64992316 missense probably damaging 1.00
R5391:Elac2 UTSW 11 64994294 missense probably benign
R5865:Elac2 UTSW 11 64997957 missense probably benign 0.39
R5953:Elac2 UTSW 11 64999223 missense probably benign 0.00
R6800:Elac2 UTSW 11 64999439 critical splice donor site probably null
R6829:Elac2 UTSW 11 64989364 missense probably benign
R6870:Elac2 UTSW 11 64999763 missense probably null 1.00
R7037:Elac2 UTSW 11 64983711 missense probably benign
R7869:Elac2 UTSW 11 64999387 missense probably damaging 0.99
R7952:Elac2 UTSW 11 64999387 missense probably damaging 0.99
X0020:Elac2 UTSW 11 64987458 missense probably damaging 0.96
Posted On2014-05-07