Incidental Mutation 'R2345:Elac2'
ID |
245987 |
Institutional Source |
Beutler Lab
|
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)
|
Stock # |
R2345 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
64869864-64892895 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64891900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 773
(M773T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047463]
[ENSMUST00000071891]
[ENSMUST00000093002]
[ENSMUST00000101049]
[ENSMUST00000108697]
|
AlphaFold |
Q80Y81 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047463
|
SMART Domains |
Protein: ENSMUSP00000039139 Gene: ENSMUSG00000033389
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000071891
AA Change: M774T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000071788 Gene: ENSMUSG00000020549 AA Change: M774T
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000101049
AA Change: M774T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098610 Gene: ENSMUSG00000020549 AA Change: M774T
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000108697
AA Change: M773T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104337 Gene: ENSMUSG00000020549 AA Change: M773T
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000140369
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130420
|
SMART Domains |
Protein: ENSMUSP00000115612 Gene: ENSMUSG00000033389
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.1504 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (30/30) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn3 |
A |
T |
12: 101,914,580 (GRCm39) |
M48K |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,210,740 (GRCm39) |
E638G |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Ceacam3 |
T |
G |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
Ckb |
G |
A |
12: 111,638,238 (GRCm39) |
T52I |
probably damaging |
Het |
Fbxw8 |
A |
T |
5: 118,203,872 (GRCm39) |
|
probably benign |
Het |
Hk3 |
T |
C |
13: 55,156,806 (GRCm39) |
D582G |
probably damaging |
Het |
Htt |
T |
A |
5: 34,983,348 (GRCm39) |
N982K |
possibly damaging |
Het |
Jag2 |
T |
C |
12: 112,872,684 (GRCm39) |
E1190G |
probably damaging |
Het |
Kcnc1 |
A |
G |
7: 46,047,370 (GRCm39) |
E90G |
probably damaging |
Het |
Kynu |
A |
C |
2: 43,471,397 (GRCm39) |
Y71S |
probably damaging |
Het |
Lonrf1 |
A |
T |
8: 36,690,016 (GRCm39) |
|
probably null |
Het |
Mfsd4b3-ps |
T |
A |
10: 39,824,069 (GRCm39) |
M64L |
probably benign |
Het |
Nbea |
A |
T |
3: 55,992,700 (GRCm39) |
F302Y |
probably damaging |
Het |
Ndst4 |
T |
C |
3: 125,501,769 (GRCm39) |
S111P |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or1f19 |
G |
A |
16: 3,411,003 (GRCm39) |
V248M |
probably damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,166 (GRCm39) |
T2A |
probably benign |
Het |
Or8b57 |
T |
G |
9: 40,003,849 (GRCm39) |
I138L |
probably benign |
Het |
Phf3 |
G |
T |
1: 30,844,432 (GRCm39) |
S1509* |
probably null |
Het |
Plekhh1 |
A |
T |
12: 79,100,421 (GRCm39) |
I130F |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,238,594 (GRCm39) |
F1953S |
unknown |
Het |
Togaram1 |
T |
A |
12: 65,055,406 (GRCm39) |
S1466T |
probably benign |
Het |
Tox2 |
T |
C |
2: 163,161,518 (GRCm39) |
Y348H |
probably damaging |
Het |
Vmn2r129 |
T |
A |
4: 156,689,334 (GRCm39) |
|
noncoding transcript |
Het |
Wdr90 |
G |
T |
17: 26,078,136 (GRCm39) |
H411N |
probably benign |
Het |
Yme1l1 |
C |
T |
2: 23,084,798 (GRCm39) |
T632I |
probably damaging |
Het |
|
Other mutations in Elac2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTCCATTGGTCTGAGGGAATAC -3'
(R):5'- AGGTGACAGATGTGGCTTCC -3'
Sequencing Primer
(F):5'- CATTGGTCTGAGGGAATACAAGCAAG -3'
(R):5'- AGCCTACAGTCCAGGATGG -3'
|
Posted On |
2014-10-30 |