Incidental Mutation 'R4977:Dis3l'
ID |
382776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dis3l
|
Ensembl Gene |
ENSMUSG00000032396 |
Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
Synonyms |
|
MMRRC Submission |
042572-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.339)
|
Stock # |
R4977 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
64214038-64248570 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 64214483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 919
(S919A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034964]
[ENSMUST00000068367]
[ENSMUST00000113890]
[ENSMUST00000120760]
[ENSMUST00000168844]
[ENSMUST00000216594]
|
AlphaFold |
Q8C0S1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034964
|
SMART Domains |
Protein: ENSMUSP00000034964 Gene: ENSMUSG00000032397
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
43 |
N/A |
INTRINSIC |
Pfam:Swi3
|
63 |
143 |
2.8e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000068367
AA Change: S919A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000063830 Gene: ENSMUSG00000032396 AA Change: S919A
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113890
AA Change: S919A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000109522 Gene: ENSMUSG00000032396 AA Change: S919A
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120760
AA Change: S919A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000113503 Gene: ENSMUSG00000032396 AA Change: S919A
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168844
AA Change: S1002A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129772 Gene: ENSMUSG00000032396 AA Change: S1002A
Domain | Start | End | E-Value | Type |
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
RNB
|
465 |
817 |
4.82e-127 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216594
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,026,899 (GRCm39) |
D910G |
probably benign |
Het |
Amy1 |
C |
T |
3: 113,363,026 (GRCm39) |
|
probably null |
Het |
C1s2 |
A |
G |
6: 124,612,598 (GRCm39) |
M19T |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,599,478 (GRCm39) |
I276T |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,302,008 (GRCm39) |
C458R |
probably damaging |
Het |
Cep112 |
T |
C |
11: 108,325,062 (GRCm39) |
S35P |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,760,336 (GRCm39) |
L2027P |
possibly damaging |
Het |
Clcn4 |
T |
A |
7: 7,294,436 (GRCm39) |
I411F |
probably benign |
Het |
Cyp3a57 |
T |
C |
5: 145,286,236 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
G |
17: 30,882,275 (GRCm39) |
T616A |
probably benign |
Het |
Emx2 |
A |
G |
19: 59,447,678 (GRCm39) |
T11A |
probably damaging |
Het |
Fbxl18 |
A |
G |
5: 142,871,840 (GRCm39) |
L465P |
probably damaging |
Het |
Fbxw27 |
G |
A |
9: 109,601,187 (GRCm39) |
T311I |
probably damaging |
Het |
Fhip1b |
A |
T |
7: 105,038,542 (GRCm39) |
D232E |
probably damaging |
Het |
Fstl5 |
C |
T |
3: 76,317,801 (GRCm39) |
Q156* |
probably null |
Het |
Ggn |
G |
T |
7: 28,871,621 (GRCm39) |
G334C |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,008,841 (GRCm39) |
N749D |
probably damaging |
Het |
Helb |
A |
G |
10: 119,946,786 (GRCm39) |
S176P |
probably benign |
Het |
Hyal1 |
A |
G |
9: 107,456,153 (GRCm39) |
D73G |
probably benign |
Het |
Ifi205 |
C |
A |
1: 173,842,574 (GRCm39) |
R374I |
probably benign |
Het |
Ift172 |
A |
T |
5: 31,429,460 (GRCm39) |
V567D |
possibly damaging |
Het |
Ighv1-43 |
A |
T |
12: 114,909,845 (GRCm39) |
S26T |
possibly damaging |
Het |
Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
Jam3 |
A |
G |
9: 27,009,669 (GRCm39) |
V309A |
probably damaging |
Het |
Kcnh4 |
A |
T |
11: 100,637,659 (GRCm39) |
L666Q |
probably damaging |
Het |
Kcnk10 |
A |
G |
12: 98,406,946 (GRCm39) |
V250A |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,044,677 (GRCm39) |
Y192C |
probably damaging |
Het |
Lamb2 |
G |
A |
9: 108,364,846 (GRCm39) |
R1200H |
probably damaging |
Het |
Lilra6 |
T |
G |
7: 3,917,382 (GRCm39) |
R204S |
probably benign |
Het |
Lrrn1 |
A |
G |
6: 107,545,668 (GRCm39) |
I489V |
probably benign |
Het |
Mdh2 |
T |
A |
5: 135,812,263 (GRCm39) |
D57E |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,844,302 (GRCm39) |
S282P |
probably benign |
Het |
Midn |
T |
A |
10: 79,986,018 (GRCm39) |
I36N |
probably damaging |
Het |
Mpped1 |
A |
T |
15: 83,680,907 (GRCm39) |
|
probably benign |
Het |
Myh10 |
A |
G |
11: 68,689,197 (GRCm39) |
D1258G |
possibly damaging |
Het |
Nup62 |
T |
C |
7: 44,478,449 (GRCm39) |
S155P |
possibly damaging |
Het |
Or2g7 |
A |
T |
17: 38,378,638 (GRCm39) |
H192L |
possibly damaging |
Het |
Or2t46 |
A |
G |
11: 58,472,455 (GRCm39) |
T262A |
possibly damaging |
Het |
Or52ab7 |
A |
T |
7: 102,978,040 (GRCm39) |
M116L |
probably benign |
Het |
Pex7 |
T |
C |
10: 19,745,078 (GRCm39) |
T258A |
probably benign |
Het |
Plg |
A |
G |
17: 12,621,976 (GRCm39) |
D432G |
probably damaging |
Het |
Plxnd1 |
A |
T |
6: 115,971,337 (GRCm39) |
S144T |
probably damaging |
Het |
Prkch |
T |
C |
12: 73,749,667 (GRCm39) |
F420S |
possibly damaging |
Het |
Psg26 |
A |
G |
7: 18,209,235 (GRCm39) |
V391A |
probably benign |
Het |
Psg29 |
G |
A |
7: 16,942,556 (GRCm39) |
G186R |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,699,574 (GRCm39) |
I1357K |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,123 (GRCm39) |
|
probably benign |
Het |
Runx1 |
T |
A |
16: 92,441,235 (GRCm39) |
|
probably null |
Het |
Sapcd1 |
A |
T |
17: 35,245,427 (GRCm39) |
S119T |
possibly damaging |
Het |
Sema5a |
T |
A |
15: 32,679,332 (GRCm39) |
N870K |
probably damaging |
Het |
Serpina3f |
G |
A |
12: 104,183,314 (GRCm39) |
E59K |
probably benign |
Het |
Slc8b1 |
A |
G |
5: 120,662,352 (GRCm39) |
K299E |
possibly damaging |
Het |
Slco1b2 |
G |
A |
6: 141,603,283 (GRCm39) |
M221I |
probably benign |
Het |
Smg5 |
C |
T |
3: 88,263,032 (GRCm39) |
Q812* |
probably null |
Het |
Smr3a |
T |
G |
5: 88,155,962 (GRCm39) |
|
probably null |
Het |
Syt9 |
G |
A |
7: 107,103,479 (GRCm39) |
D426N |
probably damaging |
Het |
Tcf25 |
T |
C |
8: 124,115,374 (GRCm39) |
Y204H |
probably benign |
Het |
Tmeff2 |
T |
A |
1: 51,018,715 (GRCm39) |
C232* |
probably null |
Het |
Tmem184a |
C |
A |
5: 139,793,757 (GRCm39) |
G219V |
probably null |
Het |
Tnc |
G |
T |
4: 63,924,485 (GRCm39) |
T1071K |
possibly damaging |
Het |
Tnn |
C |
A |
1: 159,948,188 (GRCm39) |
G842W |
probably damaging |
Het |
Tshz3 |
T |
A |
7: 36,470,615 (GRCm39) |
I868N |
probably benign |
Het |
Ulbp1 |
C |
T |
10: 7,397,391 (GRCm39) |
R238H |
probably benign |
Het |
Ushbp1 |
C |
T |
8: 71,847,693 (GRCm39) |
|
probably null |
Het |
Usp34 |
G |
C |
11: 23,438,982 (GRCm39) |
D3515H |
probably damaging |
Het |
Wdr91 |
T |
C |
6: 34,887,726 (GRCm39) |
E10G |
probably damaging |
Het |
Xdh |
A |
T |
17: 74,205,965 (GRCm39) |
F1016L |
probably benign |
Het |
Zfp235 |
T |
G |
7: 23,841,609 (GRCm39) |
I676S |
possibly damaging |
Het |
Zfp619 |
G |
A |
7: 39,186,811 (GRCm39) |
C947Y |
probably damaging |
Het |
Zfp663 |
A |
G |
2: 165,195,731 (GRCm39) |
S163P |
probably damaging |
Het |
Zfp93 |
A |
G |
7: 23,974,836 (GRCm39) |
I274V |
probably benign |
Het |
Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Dis3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01736:Dis3l
|
APN |
9 |
64,226,536 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACATGGAAGTATTTCACATTGCAC -3'
(R):5'- CTATTTGACCATGTGACGGTAAG -3'
Sequencing Primer
(F):5'- TTCACATTGCACAACTGTCAGAG -3'
(R):5'- GACGGTAAGTCTCTGCATTCAATG -3'
|
Posted On |
2016-04-27 |