Incidental Mutation 'R2345:Elac2'
| ID | 245987 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Elac2
|
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| Ensembl Gene |
ENSMUSG00000020549 |
|---|
| Gene Name | elaC ribonuclease Z 2 |
|---|
| Synonyms | 1110017O07Rik, tRNase Z(L), D11Wsu80e |
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| Accession Numbers | |
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| Is this an essential gene? |
Essential (E-score: 1.000)
|
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| Stock # | R2345 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Validated
|
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| Chromosome | 11 |
|---|
| Chromosomal Location | 64979038-65002069 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 65001074 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Methionine to Threonine
at position 773
(M773T)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000104337
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047463]
[ENSMUST00000071891]
[ENSMUST00000093002]
[ENSMUST00000101049]
[ENSMUST00000108697]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000047463
|
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| 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
|
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| 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)
|
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| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128693
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000130420
|
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| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140369
|
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| Meta Mutation Damage Score |
0.1504
|
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| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
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| Validation Efficiency |
100% (30/30) |
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,948,321 |
M48K |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,292,503 |
E638G |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 122,856,635 |
R59H |
probably benign |
Het |
| Ceacam3 |
T |
G |
7: 17,155,000 |
D231E |
possibly damaging |
Het |
| Ckb |
G |
A |
12: 111,671,804 |
T52I |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,065,807 |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,008,993 |
D582G |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,826,004 |
N982K |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,909,064 |
E1190G |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,397,946 |
E90G |
probably damaging |
Het |
| Kynu |
A |
C |
2: 43,581,385 |
Y71S |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,222,862 |
|
probably null |
Het |
| Mfsd4b3 |
T |
A |
10: 39,948,073 |
M64L |
probably benign |
Het |
| Nbea |
A |
T |
3: 56,085,279 |
F302Y |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,708,120 |
S111P |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,930,752 |
E26K |
possibly damaging |
Het |
| Olfr1031 |
A |
G |
2: 85,991,822 |
T2A |
probably benign |
Het |
| Olfr161 |
G |
A |
16: 3,593,139 |
V248M |
probably damaging |
Het |
| Olfr983 |
T |
G |
9: 40,092,553 |
I138L |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,805,351 |
S1509* |
probably null |
Het |
| Plekhh1 |
A |
T |
12: 79,053,647 |
I130F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 |
V1151F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,381,397 |
F1953S |
unknown |
Het |
| Togaram1 |
T |
A |
12: 65,008,632 |
S1466T |
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,319,598 |
Y348H |
probably damaging |
Het |
| Vmn2r-ps159 |
T |
A |
4: 156,337,039 |
|
noncoding transcript |
Het |
| Wdr90 |
G |
T |
17: 25,859,162 |
H411N |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,194,786 |
T632I |
probably damaging |
Het |
|
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| Other mutations in Elac2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00664:Elac2
|
APN |
11 |
64980650 |
missense |
possibly damaging |
0.92 |
|
IGL02035:Elac2
|
APN |
11 |
65001835 |
missense |
probably benign |
|
|
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 |
|
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 |
|
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| Predicted Primers |
PCR Primer
(F):5'- GGTCCATTGGTCTGAGGGAATAC -3'
(R):5'- AGGTGACAGATGTGGCTTCC -3'
Sequencing Primer
(F):5'- CATTGGTCTGAGGGAATACAAGCAAG -3'
(R):5'- AGCCTACAGTCCAGGATGG -3'
|
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| Posted On | 2014-10-30 |
|---|
