Incidental Mutation 'IGL01736:Dis3l'
ID |
105720 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dis3l
|
Ensembl Gene |
ENSMUSG00000032396 |
Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.339)
|
Stock # |
IGL01736
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
64214038-64248570 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 64226536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068367]
[ENSMUST00000068367]
[ENSMUST00000113890]
[ENSMUST00000120760]
[ENSMUST00000168844]
|
AlphaFold |
Q8C0S1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068367
|
SMART Domains |
Protein: ENSMUSP00000063830 Gene: ENSMUSG00000032396
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068367
|
SMART Domains |
Protein: ENSMUSP00000063830 Gene: ENSMUSG00000032396
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113890
|
SMART Domains |
Protein: ENSMUSP00000109522 Gene: ENSMUSG00000032396
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120760
|
SMART Domains |
Protein: ENSMUSP00000113503 Gene: ENSMUSG00000032396
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134843
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168844
|
SMART Domains |
Protein: ENSMUSP00000129772 Gene: ENSMUSG00000032396
Domain | Start | End | E-Value | Type |
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
RNB
|
465 |
817 |
4.82e-127 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,326,503 (GRCm39) |
T290A |
possibly damaging |
Het |
Apip |
G |
A |
2: 102,917,486 (GRCm39) |
V62M |
probably damaging |
Het |
Appbp2 |
T |
C |
11: 85,105,143 (GRCm39) |
K141R |
possibly damaging |
Het |
Arhgef18 |
T |
A |
8: 3,501,624 (GRCm39) |
|
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,522,583 (GRCm39) |
T240A |
probably benign |
Het |
Bivm |
A |
T |
1: 44,180,973 (GRCm39) |
N385I |
probably damaging |
Het |
Brd4 |
A |
T |
17: 32,417,649 (GRCm39) |
|
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,789 (GRCm39) |
D352G |
possibly damaging |
Het |
Ceacam10 |
A |
G |
7: 24,480,535 (GRCm39) |
Y102C |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,156,282 (GRCm39) |
D677G |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,165,360 (GRCm39) |
V582M |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,521,552 (GRCm39) |
L541P |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,391,444 (GRCm39) |
T384A |
possibly damaging |
Het |
Gdpd3 |
T |
C |
7: 126,365,695 (GRCm39) |
L18P |
probably damaging |
Het |
Grxcr2 |
T |
A |
18: 42,132,047 (GRCm39) |
K7N |
probably damaging |
Het |
Gulo |
A |
G |
14: 66,234,325 (GRCm39) |
F246L |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
Ints4 |
C |
T |
7: 97,175,849 (GRCm39) |
L647F |
probably benign |
Het |
Kif17 |
T |
A |
4: 138,013,876 (GRCm39) |
L264Q |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,843,948 (GRCm39) |
N1104S |
possibly damaging |
Het |
Ly6e |
T |
G |
15: 74,830,546 (GRCm39) |
L132R |
probably benign |
Het |
Mis18bp1 |
T |
A |
12: 65,185,452 (GRCm39) |
H905L |
probably damaging |
Het |
Nr2f2 |
A |
G |
7: 70,004,446 (GRCm39) |
S269P |
probably damaging |
Het |
Or2b2b |
C |
A |
13: 21,858,787 (GRCm39) |
C109F |
probably benign |
Het |
Or2o1 |
G |
A |
11: 49,051,354 (GRCm39) |
C171Y |
probably damaging |
Het |
Or5d46 |
T |
A |
2: 88,170,771 (GRCm39) |
N287K |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,166,910 (GRCm39) |
I757V |
probably damaging |
Het |
Psg23 |
A |
T |
7: 18,346,122 (GRCm39) |
I191N |
possibly damaging |
Het |
Slc12a4 |
A |
T |
8: 106,672,475 (GRCm39) |
|
probably null |
Het |
Snph |
A |
T |
2: 151,436,093 (GRCm39) |
Y209* |
probably null |
Het |
Tnfaip3 |
T |
C |
10: 18,882,649 (GRCm39) |
H256R |
probably damaging |
Het |
Tnip3 |
T |
A |
6: 65,573,107 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,243,386 (GRCm39) |
F1130Y |
probably damaging |
Het |
Twnk |
T |
G |
19: 44,998,627 (GRCm39) |
V515G |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,280,658 (GRCm39) |
I2324K |
probably benign |
Het |
Vwa7 |
T |
C |
17: 35,238,827 (GRCm39) |
F305S |
probably damaging |
Het |
Ythdc2 |
A |
T |
18: 44,983,735 (GRCm39) |
Q567L |
probably damaging |
Het |
Zbtb11 |
T |
A |
16: 55,818,523 (GRCm39) |
I649K |
probably damaging |
Het |
Zbtb49 |
T |
C |
5: 38,358,204 (GRCm39) |
Y683C |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,309,152 (GRCm39) |
M793L |
possibly damaging |
Het |
Zmym6 |
T |
G |
4: 127,002,437 (GRCm39) |
I556R |
probably damaging |
Het |
Zswim8 |
C |
T |
14: 20,764,780 (GRCm39) |
P717S |
probably benign |
Het |
|
Other mutations in Dis3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01812:Dis3l
|
APN |
9 |
64,217,519 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01838:Dis3l
|
APN |
9 |
64,215,581 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02104:Dis3l
|
APN |
9 |
64,217,611 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02478:Dis3l
|
APN |
9 |
64,222,055 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02481:Dis3l
|
APN |
9 |
64,226,362 (GRCm39) |
splice site |
probably null |
|
IGL02483:Dis3l
|
APN |
9 |
64,226,362 (GRCm39) |
splice site |
probably null |
|
IGL02965:Dis3l
|
APN |
9 |
64,217,766 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03139:Dis3l
|
APN |
9 |
64,219,232 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03054:Dis3l
|
UTSW |
9 |
64,217,722 (GRCm39) |
critical splice donor site |
probably null |
|
R0066:Dis3l
|
UTSW |
9 |
64,226,447 (GRCm39) |
missense |
probably benign |
0.27 |
R0066:Dis3l
|
UTSW |
9 |
64,226,447 (GRCm39) |
missense |
probably benign |
0.27 |
R0724:Dis3l
|
UTSW |
9 |
64,214,408 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0801:Dis3l
|
UTSW |
9 |
64,226,436 (GRCm39) |
missense |
probably benign |
|
R0925:Dis3l
|
UTSW |
9 |
64,248,412 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
R1502:Dis3l
|
UTSW |
9 |
64,233,069 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1541:Dis3l
|
UTSW |
9 |
64,214,771 (GRCm39) |
missense |
probably benign |
0.07 |
R1794:Dis3l
|
UTSW |
9 |
64,225,058 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1929:Dis3l
|
UTSW |
9 |
64,238,165 (GRCm39) |
missense |
probably damaging |
0.96 |
R2007:Dis3l
|
UTSW |
9 |
64,215,558 (GRCm39) |
splice site |
probably null |
|
R2062:Dis3l
|
UTSW |
9 |
64,246,855 (GRCm39) |
missense |
probably benign |
0.02 |
R2152:Dis3l
|
UTSW |
9 |
64,214,545 (GRCm39) |
missense |
probably benign |
0.00 |
R2153:Dis3l
|
UTSW |
9 |
64,214,545 (GRCm39) |
missense |
probably benign |
0.00 |
R2154:Dis3l
|
UTSW |
9 |
64,214,545 (GRCm39) |
missense |
probably benign |
0.00 |
R2186:Dis3l
|
UTSW |
9 |
64,246,894 (GRCm39) |
nonsense |
probably null |
|
R2271:Dis3l
|
UTSW |
9 |
64,238,165 (GRCm39) |
missense |
probably damaging |
0.96 |
R2280:Dis3l
|
UTSW |
9 |
64,225,076 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2287:Dis3l
|
UTSW |
9 |
64,214,779 (GRCm39) |
missense |
probably benign |
0.20 |
R3156:Dis3l
|
UTSW |
9 |
64,219,032 (GRCm39) |
missense |
probably benign |
0.25 |
R4664:Dis3l
|
UTSW |
9 |
64,238,080 (GRCm39) |
missense |
unknown |
|
R4775:Dis3l
|
UTSW |
9 |
64,238,190 (GRCm39) |
missense |
probably benign |
0.16 |
R4977:Dis3l
|
UTSW |
9 |
64,214,483 (GRCm39) |
missense |
probably benign |
0.00 |
R4997:Dis3l
|
UTSW |
9 |
64,219,224 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5097:Dis3l
|
UTSW |
9 |
64,226,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Dis3l
|
UTSW |
9 |
64,238,117 (GRCm39) |
missense |
probably benign |
0.44 |
R5623:Dis3l
|
UTSW |
9 |
64,214,885 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6310:Dis3l
|
UTSW |
9 |
64,229,857 (GRCm39) |
missense |
probably benign |
0.00 |
R6442:Dis3l
|
UTSW |
9 |
64,214,837 (GRCm39) |
missense |
probably benign |
|
R6505:Dis3l
|
UTSW |
9 |
64,214,795 (GRCm39) |
missense |
probably benign |
0.15 |
R6731:Dis3l
|
UTSW |
9 |
64,217,720 (GRCm39) |
splice site |
probably null |
|
R7008:Dis3l
|
UTSW |
9 |
64,217,735 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7405:Dis3l
|
UTSW |
9 |
64,221,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Dis3l
|
UTSW |
9 |
64,219,219 (GRCm39) |
nonsense |
probably null |
|
R7798:Dis3l
|
UTSW |
9 |
64,248,299 (GRCm39) |
missense |
probably benign |
|
R7890:Dis3l
|
UTSW |
9 |
64,229,753 (GRCm39) |
missense |
probably benign |
0.00 |
R8329:Dis3l
|
UTSW |
9 |
64,219,112 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8715:Dis3l
|
UTSW |
9 |
64,214,342 (GRCm39) |
missense |
probably benign |
|
R8942:Dis3l
|
UTSW |
9 |
64,214,875 (GRCm39) |
missense |
probably benign |
0.22 |
R8973:Dis3l
|
UTSW |
9 |
64,246,824 (GRCm39) |
missense |
probably damaging |
0.96 |
R9189:Dis3l
|
UTSW |
9 |
64,217,731 (GRCm39) |
missense |
probably benign |
0.21 |
R9240:Dis3l
|
UTSW |
9 |
64,217,447 (GRCm39) |
critical splice donor site |
probably null |
|
R9354:Dis3l
|
UTSW |
9 |
64,221,922 (GRCm39) |
missense |
probably benign |
0.01 |
R9394:Dis3l
|
UTSW |
9 |
64,225,017 (GRCm39) |
missense |
probably benign |
0.24 |
R9569:Dis3l
|
UTSW |
9 |
64,236,829 (GRCm39) |
missense |
unknown |
|
X0020:Dis3l
|
UTSW |
9 |
64,233,016 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Dis3l
|
UTSW |
9 |
64,214,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-01-21 |