Incidental Mutation 'R6829:Elac2'
| ID |
534305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elac2
|
| Ensembl Gene |
ENSMUSG00000020549 |
| Gene Name |
elaC ribonuclease Z 2 |
| Synonyms |
tRNase Z(L), D11Wsu80e, 1110017O07Rik |
| MMRRC Submission |
044939-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6829 (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 64880190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 111
(E111G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071891]
[ENSMUST00000101049]
[ENSMUST00000108697]
[ENSMUST00000132308]
|
| AlphaFold |
Q80Y81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071891
AA Change: E328G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: E328G
| 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: ENSMUST00000101049
AA Change: E328G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: E328G
| 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 benign
Transcript: ENSMUST00000108697
AA Change: E328G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: E328G
| 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 |
probably benign
Transcript: ENSMUST00000132308
AA Change: E111G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117422
Gene: ENSMUSG00000020549
AA Change: E111G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
29 |
95 |
6e-6 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,265,446 (GRCm39) |
|
probably null |
Het |
| Adamts5 |
A |
T |
16: 85,666,959 (GRCm39) |
M511K |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,125,018 (GRCm39) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,876,463 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ccdc198 |
A |
G |
14: 49,464,025 (GRCm39) |
*295Q |
probably null |
Het |
| Dcaf1 |
T |
A |
9: 106,715,803 (GRCm39) |
S307T |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Fbxw4 |
A |
G |
19: 45,624,813 (GRCm39) |
F57S |
possibly damaging |
Het |
| Gm17655 |
T |
G |
5: 110,194,792 (GRCm39) |
H330P |
probably damaging |
Het |
| Gm2a |
T |
C |
11: 54,994,576 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
A |
3: 88,787,413 (GRCm39) |
D600E |
possibly damaging |
Het |
| Gsg1l2 |
T |
C |
11: 67,665,684 (GRCm39) |
I84T |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,323,241 (GRCm39) |
R652G |
probably benign |
Het |
| Il17rd |
C |
T |
14: 26,809,379 (GRCm39) |
R112* |
probably null |
Het |
| Jph1 |
C |
A |
1: 17,074,647 (GRCm39) |
R457L |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,964,810 (GRCm39) |
V249A |
possibly damaging |
Het |
| Mocs2 |
A |
G |
13: 114,955,980 (GRCm39) |
S43G |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,172,643 (GRCm39) |
L1190* |
probably null |
Het |
| Or2w1 |
T |
A |
13: 21,317,023 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or4f62 |
G |
C |
2: 111,986,139 (GRCm39) |
|
probably benign |
Het |
| Or5ac16 |
A |
G |
16: 59,021,898 (GRCm39) |
V297A |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,613 (GRCm39) |
L285* |
probably null |
Het |
| Pgc |
A |
T |
17: 48,043,706 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
G |
3: 63,604,939 (GRCm39) |
D1655A |
probably damaging |
Het |
| Pnliprp2 |
G |
A |
19: 58,748,305 (GRCm39) |
G29R |
probably benign |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,488 (GRCm39) |
I969T |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sema7a |
A |
G |
9: 57,868,181 (GRCm39) |
E538G |
probably benign |
Het |
| Slc2a2 |
C |
T |
3: 28,781,590 (GRCm39) |
Q513* |
probably null |
Het |
| Slc4a8 |
A |
G |
15: 100,698,419 (GRCm39) |
Y636C |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,164,438 (GRCm39) |
D248G |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,623,166 (GRCm39) |
|
probably benign |
Het |
| Vmn1r14 |
T |
C |
6: 57,210,536 (GRCm39) |
L38P |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,396,380 (GRCm39) |
S397P |
probably damaging |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,414,540 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,676,915 (GRCm39) |
T2655M |
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 |
|
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 |
|
|
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'- CCTATTGCAGCCAGAGGAAC -3'
(R):5'- ACTATAAGGCATTGGAGCAGGC -3'
Sequencing Primer
(F):5'- AGCCACTGAACTAGAAATAAGTGTC -3'
(R):5'- CTTGGACTGGTCTCCATA -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation