Incidental Mutation 'IGL02407:Elac2'
| ID |
292120 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
64869864-64892895 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64890001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 612
(V612A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098610
(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 benign
Transcript: ENSMUST00000071891
AA Change: V612A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: V612A
| 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 benign
Transcript: ENSMUST00000101049
AA Change: V612A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: V612A
| 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: V611A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: V611A
| 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 |
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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,645,575 (GRCm39) |
W1040* |
probably null |
Het |
| Adgrv1 |
C |
A |
13: 81,627,789 (GRCm39) |
A3691S |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,718,295 (GRCm39) |
Y345* |
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,069,823 (GRCm39) |
Y496* |
probably null |
Het |
| Ash1l |
T |
C |
3: 88,979,855 (GRCm39) |
V2793A |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,668,853 (GRCm39) |
D575E |
probably benign |
Het |
| Ceacam20 |
G |
T |
7: 19,704,332 (GRCm39) |
V128F |
probably benign |
Het |
| Cers4 |
A |
T |
8: 4,570,306 (GRCm39) |
K204* |
probably null |
Het |
| Cog1 |
T |
C |
11: 113,544,852 (GRCm39) |
Y345H |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,272 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
A |
T |
1: 24,351,453 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
T |
A |
15: 30,966,914 (GRCm39) |
M955K |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,388,652 (GRCm39) |
M275K |
probably damaging |
Het |
| Degs2 |
T |
G |
12: 108,658,254 (GRCm39) |
T242P |
probably damaging |
Het |
| Elovl6 |
T |
A |
3: 129,398,733 (GRCm39) |
F45I |
probably damaging |
Het |
| Exoc1 |
A |
C |
5: 76,693,193 (GRCm39) |
N360H |
probably damaging |
Het |
| Fam221b |
A |
T |
4: 43,666,309 (GRCm39) |
S101T |
possibly damaging |
Het |
| Garre1 |
A |
T |
7: 33,955,909 (GRCm39) |
N393K |
probably damaging |
Het |
| Glyr1 |
A |
G |
16: 4,854,812 (GRCm39) |
F89L |
probably benign |
Het |
| Herc4 |
C |
A |
10: 63,142,203 (GRCm39) |
T668K |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,525,874 (GRCm39) |
V259I |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,967,983 (GRCm39) |
D397E |
probably damaging |
Het |
| Ift80 |
G |
T |
3: 68,805,869 (GRCm39) |
D724E |
probably benign |
Het |
| Igkv3-10 |
T |
C |
6: 70,550,223 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,842,678 (GRCm39) |
A75S |
possibly damaging |
Het |
| Kif13a |
C |
T |
13: 46,938,769 (GRCm39) |
V76M |
probably damaging |
Het |
| Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
| Lgals8 |
A |
G |
13: 12,469,699 (GRCm39) |
W87R |
probably benign |
Het |
| Mccc2 |
G |
A |
13: 100,127,816 (GRCm39) |
P96L |
probably damaging |
Het |
| Megf11 |
A |
C |
9: 64,587,531 (GRCm39) |
D443A |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,321,008 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,281 (GRCm39) |
V230A |
probably benign |
Het |
| Nif3l1 |
G |
T |
1: 58,496,956 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,923 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,128 (GRCm39) |
Y169N |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,710,635 (GRCm39) |
I1529T |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,279,915 (GRCm39) |
I219F |
probably damaging |
Het |
| Prpf38a |
G |
A |
4: 108,424,836 (GRCm39) |
R242W |
unknown |
Het |
| Prrc2a |
A |
T |
17: 35,379,480 (GRCm39) |
D255E |
unknown |
Het |
| Rapgef6 |
G |
T |
11: 54,567,181 (GRCm39) |
D1121Y |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,585,303 (GRCm39) |
H2761L |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,810,042 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,510,065 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,826,777 (GRCm39) |
S172G |
probably benign |
Het |
| Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
| Smurf1 |
A |
T |
5: 144,821,534 (GRCm39) |
M496K |
probably damaging |
Het |
| Srgap2 |
A |
T |
1: 131,247,340 (GRCm39) |
V564D |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,430,576 (GRCm39) |
I162T |
probably benign |
Het |
| Tchhl1 |
A |
T |
3: 93,378,634 (GRCm39) |
N446I |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,584 (GRCm39) |
H211Q |
probably damaging |
Het |
| Trim3 |
T |
C |
7: 105,262,218 (GRCm39) |
N586S |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,868,869 (GRCm39) |
E507G |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,020,523 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,365,316 (GRCm39) |
K310* |
probably null |
Het |
| Unc13a |
T |
A |
8: 72,101,586 (GRCm39) |
N1022Y |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,228 (GRCm39) |
N38Y |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,770 (GRCm39) |
I161F |
probably damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,243,108 (GRCm39) |
M25T |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,323,795 (GRCm39) |
R130Q |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,802 (GRCm39) |
S724G |
probably benign |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation