Incidental Mutation 'IGL02361:Dis3'
| ID |
290501 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dis3
|
| Ensembl Gene |
ENSMUSG00000033166 |
| Gene Name |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
| Synonyms |
2810028N01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02361
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 99317148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 765
(Y765*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042471]
[ENSMUST00000227022]
[ENSMUST00000228643]
|
| AlphaFold |
Q9CSH3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042471
AA Change: Y765*
|
| SMART Domains |
Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: Y765*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
PINc
|
64 |
182 |
2.8e-24 |
SMART |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
RNB
|
467 |
797 |
5.56e-141 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228756
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp1 |
A |
C |
6: 55,322,498 (GRCm39) |
L164F |
possibly damaging |
Het |
| Bfsp1 |
T |
C |
2: 143,673,907 (GRCm39) |
E261G |
probably damaging |
Het |
| Brinp2 |
A |
G |
1: 158,074,748 (GRCm39) |
C458R |
probably damaging |
Het |
| Cacng3 |
T |
G |
7: 122,271,169 (GRCm39) |
M58R |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,885,852 (GRCm39) |
C254* |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,774,061 (GRCm39) |
|
probably null |
Het |
| Dpep1 |
T |
A |
8: 123,926,957 (GRCm39) |
S260R |
probably benign |
Het |
| Elmod1 |
A |
G |
9: 53,838,842 (GRCm39) |
L106P |
probably damaging |
Het |
| Fut10 |
A |
G |
8: 31,691,398 (GRCm39) |
Y81C |
probably damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,932 (GRCm39) |
D217E |
possibly damaging |
Het |
| Gap43 |
T |
C |
16: 42,160,871 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
T |
C |
5: 137,517,989 (GRCm39) |
|
probably benign |
Het |
| Gpc5 |
C |
T |
14: 115,370,699 (GRCm39) |
R175* |
probably null |
Het |
| Gpi-ps |
T |
C |
8: 5,690,896 (GRCm39) |
|
noncoding transcript |
Het |
| Kcna1 |
C |
A |
6: 126,619,869 (GRCm39) |
Q150H |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,835,677 (GRCm39) |
C1225* |
probably null |
Het |
| Lrrc25 |
A |
T |
8: 71,070,477 (GRCm39) |
D86V |
probably benign |
Het |
| Madd |
A |
T |
2: 90,992,543 (GRCm39) |
V1043E |
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,711,437 (GRCm39) |
|
probably benign |
Het |
| Mzb1 |
T |
A |
18: 35,782,250 (GRCm39) |
H46L |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,843,856 (GRCm38) |
Q193L |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,572,621 (GRCm39) |
I187F |
probably damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,526 (GRCm39) |
M137L |
probably benign |
Het |
| Or5p53 |
T |
A |
7: 107,533,484 (GRCm39) |
Y252* |
probably null |
Het |
| Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
| Pgap1 |
T |
C |
1: 54,551,975 (GRCm39) |
T486A |
probably benign |
Het |
| Prdm9 |
C |
T |
17: 15,783,109 (GRCm39) |
V58M |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,581,583 (GRCm39) |
Y146C |
probably damaging |
Het |
| Psmd9 |
G |
T |
5: 123,386,379 (GRCm39) |
R175I |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,049,188 (GRCm39) |
D618G |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 82,665,393 (GRCm39) |
|
probably benign |
Het |
| Rrm2 |
G |
T |
12: 24,761,438 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,388,536 (GRCm39) |
V376A |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,610,666 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
A |
T |
11: 83,104,068 (GRCm39) |
Q313L |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,060,783 (GRCm39) |
F2062L |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,165,047 (GRCm39) |
V500A |
probably benign |
Het |
| Tcea1 |
T |
C |
1: 4,966,570 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,348,192 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
C |
T |
2: 153,029,570 (GRCm39) |
T173M |
probably benign |
Het |
| Tmtc2 |
T |
C |
10: 105,107,387 (GRCm39) |
T709A |
probably benign |
Het |
| Zfp385b |
T |
C |
2: 77,280,647 (GRCm39) |
E97G |
probably damaging |
Het |
| Zim1 |
A |
T |
7: 6,685,873 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dis3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Dis3
|
APN |
14 |
99,320,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Dis3
|
APN |
14 |
99,328,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00975:Dis3
|
APN |
14 |
99,316,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01536:Dis3
|
APN |
14 |
99,316,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Dis3
|
APN |
14 |
99,335,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02143:Dis3
|
APN |
14 |
99,328,754 (GRCm39) |
splice site |
probably benign |
|
|
IGL02270:Dis3
|
APN |
14 |
99,315,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02354:Dis3
|
APN |
14 |
99,317,148 (GRCm39) |
nonsense |
probably null |
|
|
IGL02650:Dis3
|
APN |
14 |
99,336,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03053:Dis3
|
APN |
14 |
99,336,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03057:Dis3
|
APN |
14 |
99,327,426 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03389:Dis3
|
APN |
14 |
99,332,783 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Dis3
|
UTSW |
14 |
99,324,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Dis3
|
UTSW |
14 |
99,318,826 (GRCm39) |
splice site |
probably benign |
|
|
R1535:Dis3
|
UTSW |
14 |
99,316,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Dis3
|
UTSW |
14 |
99,323,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Dis3
|
UTSW |
14 |
99,321,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Dis3
|
UTSW |
14 |
99,328,905 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1938:Dis3
|
UTSW |
14 |
99,335,026 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2056:Dis3
|
UTSW |
14 |
99,336,251 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2133:Dis3
|
UTSW |
14 |
99,317,313 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2448:Dis3
|
UTSW |
14 |
99,324,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3407:Dis3
|
UTSW |
14 |
99,336,212 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4052:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4207:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4208:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4465:Dis3
|
UTSW |
14 |
99,321,550 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4612:Dis3
|
UTSW |
14 |
99,328,871 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4859:Dis3
|
UTSW |
14 |
99,325,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Dis3
|
UTSW |
14 |
99,326,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Dis3
|
UTSW |
14 |
99,336,242 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5335:Dis3
|
UTSW |
14 |
99,335,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5409:Dis3
|
UTSW |
14 |
99,323,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5802:Dis3
|
UTSW |
14 |
99,337,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Dis3
|
UTSW |
14 |
99,336,215 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6309:Dis3
|
UTSW |
14 |
99,323,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7275:Dis3
|
UTSW |
14 |
99,324,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Dis3
|
UTSW |
14 |
99,337,042 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7535:Dis3
|
UTSW |
14 |
99,327,415 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7794:Dis3
|
UTSW |
14 |
99,336,233 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8013:Dis3
|
UTSW |
14 |
99,314,835 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8014:Dis3
|
UTSW |
14 |
99,314,835 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8077:Dis3
|
UTSW |
14 |
99,327,471 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8957:Dis3
|
UTSW |
14 |
99,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Dis3
|
UTSW |
14 |
99,332,647 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9073:Dis3
|
UTSW |
14 |
99,332,647 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9345:Dis3
|
UTSW |
14 |
99,318,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Dis3
|
UTSW |
14 |
99,316,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation