Incidental Mutation 'R7037:Elac2'
ID 546781
Institutional Source Beutler Lab
Gene Symbol Elac2
Ensembl Gene ENSMUSG00000020549
Gene Name elaC ribonuclease Z 2
Synonyms tRNase Z(L), D11Wsu80e, 1110017O07Rik
MMRRC Submission 045137-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7037 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 64869864-64892895 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64874537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 218 (E218G)
Ref Sequence ENSEMBL: ENSMUSP00000104337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071891] [ENSMUST00000101049] [ENSMUST00000108697] [ENSMUST00000132308]
AlphaFold Q80Y81
Predicted Effect probably benign
Transcript: ENSMUST00000071891
AA Change: E218G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: E218G

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: ENSMUST00000101049
AA Change: E218G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: E218G

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
AA Change: E218G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: E218G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,367,266 (GRCm39) N33I probably damaging Het
Ahnak2 A T 12: 112,740,712 (GRCm39) V314D probably damaging Het
Arl14epl T G 18: 47,065,510 (GRCm39) C92G probably benign Het
Atp6v1h T A 1: 5,220,215 (GRCm39) M423K possibly damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2b C T 2: 59,764,014 (GRCm39) probably null Het
Bicral T C 17: 47,135,560 (GRCm39) H550R probably benign Het
C1rl A G 6: 124,485,598 (GRCm39) Y323C probably damaging Het
Ccr9 T A 9: 123,609,036 (GRCm39) H239Q possibly damaging Het
Cdh16 T A 8: 105,344,267 (GRCm39) R91* probably null Het
Coro1c A G 5: 113,983,457 (GRCm39) F357S possibly damaging Het
Cpsf4 G A 5: 145,112,939 (GRCm39) R141Q possibly damaging Het
Cryzl2 G A 1: 157,298,318 (GRCm39) V236I probably damaging Het
Cttnbp2 T C 6: 18,435,117 (GRCm39) E247G probably damaging Het
Dbr1 T A 9: 99,458,621 (GRCm39) probably null Het
Dclk1 T C 3: 55,370,469 (GRCm39) S23P probably damaging Het
Dpyd A T 3: 118,692,938 (GRCm39) I361F probably benign Het
Eml4 T A 17: 83,732,756 (GRCm39) D136E probably benign Het
Foxred1 A T 9: 35,118,844 (GRCm39) S223T probably benign Het
Garin5b G T 7: 4,761,584 (GRCm39) probably benign Het
Gask1a G T 9: 121,794,592 (GRCm39) V249L possibly damaging Het
Gm11595 A G 11: 99,663,474 (GRCm39) C69R unknown Het
Gna14 A T 19: 16,511,128 (GRCm39) H59L Het
H2-Ab1 T A 17: 34,486,963 (GRCm39) I239N probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Itgb4 T A 11: 115,896,391 (GRCm39) Y1379* probably null Het
Kank1 A G 19: 25,407,705 (GRCm39) D1233G probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lrrc66 A T 5: 73,764,504 (GRCm39) D846E probably benign Het
Lyst A G 13: 13,791,251 (GRCm39) H38R probably damaging Het
Mc3r T C 2: 172,091,554 (GRCm39) F259L probably damaging Het
Med25 A G 7: 44,532,206 (GRCm39) Y384H probably damaging Het
Met A T 6: 17,547,127 (GRCm39) probably benign Het
Mmp16 T C 4: 18,116,148 (GRCm39) V584A possibly damaging Het
Mrgprb3 A G 7: 48,292,942 (GRCm39) L203P probably damaging Het
Mus81 A G 19: 5,536,108 (GRCm39) L185P probably damaging Het
Naaa A G 5: 92,424,934 (GRCm39) V75A possibly damaging Het
Obscn T A 11: 58,934,755 (GRCm39) T5292S probably damaging Het
Obscn T C 11: 58,943,430 (GRCm39) S4801G probably damaging Het
Or2ag19 T C 7: 106,444,543 (GRCm39) S242P probably damaging Het
Otof T C 5: 30,538,882 (GRCm39) D1112G probably benign Het
Pals1 T A 12: 78,843,973 (GRCm39) I59N probably damaging Het
Pbx4 A G 8: 70,317,525 (GRCm39) R170G probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plce1 A T 19: 38,690,461 (GRCm39) D715V probably damaging Het
Pms1 T C 1: 53,246,770 (GRCm39) T311A possibly damaging Het
Popdc2 A G 16: 38,194,629 (GRCm39) D350G probably damaging Het
Prex1 A G 2: 166,429,100 (GRCm39) V661A probably benign Het
Ptbp2 A G 3: 119,545,557 (GRCm39) Y130H probably damaging Het
Rev3l C T 10: 39,727,971 (GRCm39) R2707W probably damaging Het
Rpl37 G A 15: 5,147,185 (GRCm39) R75K probably null Het
Ryr3 T A 2: 112,779,475 (GRCm39) R259* probably null Het
Scai A T 2: 39,080,633 (GRCm39) S8T probably benign Het
Scn4a C A 11: 106,211,726 (GRCm39) L1430F probably damaging Het
Sema5a A G 15: 32,686,993 (GRCm39) K1035R probably damaging Het
Siah3 A G 14: 75,763,025 (GRCm39) H92R probably benign Het
Smc4 G A 3: 68,925,528 (GRCm39) V342I possibly damaging Het
Spata31d1a C T 13: 59,848,138 (GRCm39) C1330Y possibly damaging Het
St18 C A 1: 6,873,260 (GRCm39) H332N possibly damaging Het
Sycp1 T A 3: 102,806,250 (GRCm39) E480D possibly damaging Het
Tex14 A T 11: 87,388,741 (GRCm39) I323F probably damaging Het
Tm7sf2 A T 19: 6,114,107 (GRCm39) probably null Het
Tmem241 G T 18: 12,246,463 (GRCm39) H62Q probably benign Het
Tmem54 T A 4: 129,004,594 (GRCm39) probably null Het
Tomm34 A G 2: 163,912,398 (GRCm39) L39P probably damaging Het
Triml2 T A 8: 43,646,573 (GRCm39) V354D probably damaging Het
Usp19 T C 9: 108,374,157 (GRCm39) I738T possibly damaging Het
Utp25 A C 1: 192,803,031 (GRCm39) probably null Het
Utrn T A 10: 12,702,514 (GRCm39) probably null Het
Zfp1005 G T 2: 150,108,376 (GRCm39) V46F possibly damaging Het
Other mutations in Elac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00664:Elac2 APN 11 64,871,476 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- CTGCAGGGAAAGGAGTTCTG -3'
(R):5'- GGCCACACTATACTGTGATCAC -3'

Sequencing Primer
(F):5'- TTCGCACATGTGAACACCTGG -3'
(R):5'- TCACAGAAAGCCATGTGGTTGC -3'
Posted On 2019-05-13