Incidental Mutation 'R4775:Dis3l'
| ID |
367857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l
|
| Ensembl Gene |
ENSMUSG00000032396 |
| Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
| Synonyms |
|
| MMRRC Submission |
041991-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R4775 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64214038-64248570 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64238190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 101
(N101Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068367]
[ENSMUST00000113890]
[ENSMUST00000120760]
[ENSMUST00000154076]
[ENSMUST00000168844]
|
| AlphaFold |
Q8C0S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068367
AA Change: N18Y
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: N18Y
| 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: N18Y
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: N18Y
| 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: N18Y
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: N18Y
| 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 benign
Transcript: ENSMUST00000154076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168844
AA Change: N101Y
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: N101Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
RNB
|
465 |
817 |
4.82e-127 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,134,165 (GRCm39) |
Y426C |
probably damaging |
Het |
| Adam7 |
A |
G |
14: 68,745,361 (GRCm39) |
I621T |
probably benign |
Het |
| Adamts1 |
A |
T |
16: 85,597,278 (GRCm39) |
Y260* |
probably null |
Het |
| Adgrf1 |
C |
T |
17: 43,622,054 (GRCm39) |
L764F |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,808,984 (GRCm39) |
|
probably null |
Het |
| C5ar2 |
A |
C |
7: 15,971,540 (GRCm39) |
L129R |
probably damaging |
Het |
| Ccdc174 |
G |
A |
6: 91,867,875 (GRCm39) |
|
probably null |
Het |
| Cidec |
T |
C |
6: 113,411,695 (GRCm39) |
M1V |
probably null |
Het |
| Clec16a |
G |
T |
16: 10,456,778 (GRCm39) |
R663L |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 129,976,468 (GRCm39) |
C118R |
possibly damaging |
Het |
| Cox6b2 |
A |
G |
7: 4,755,074 (GRCm39) |
C67R |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,454,229 (GRCm39) |
I92F |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,897,156 (GRCm39) |
S792T |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,604,184 (GRCm39) |
T884A |
possibly damaging |
Het |
| Dvl1 |
T |
C |
4: 155,942,584 (GRCm39) |
W617R |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,768,566 (GRCm39) |
V1503A |
probably benign |
Het |
| Engase |
A |
T |
11: 118,373,497 (GRCm39) |
D280V |
probably benign |
Het |
| F11r |
T |
C |
1: 171,289,209 (GRCm39) |
S224P |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,023,045 (GRCm39) |
V564A |
probably damaging |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,826,073 (GRCm39) |
W51R |
possibly damaging |
Het |
| Gm94 |
A |
G |
18: 43,925,836 (GRCm39) |
|
probably null |
Het |
| Gm9830 |
A |
T |
9: 44,375,721 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
T |
A |
15: 76,218,891 (GRCm39) |
|
probably null |
Het |
| Grin1 |
C |
T |
2: 25,182,475 (GRCm39) |
A929T |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 110,891,332 (GRCm39) |
D188E |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,242,970 (GRCm39) |
F395L |
probably benign |
Het |
| Lipo3 |
C |
A |
19: 33,757,795 (GRCm39) |
G225C |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,857,140 (GRCm39) |
|
probably null |
Het |
| Marveld2 |
A |
G |
13: 100,753,303 (GRCm39) |
|
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,777 (GRCm39) |
L416P |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,359,930 (GRCm39) |
L312P |
possibly damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,977,730 (GRCm39) |
S113T |
probably damaging |
Het |
| Mylk3 |
G |
A |
8: 86,085,689 (GRCm39) |
Q149* |
probably null |
Het |
| Myt1 |
T |
A |
2: 181,464,470 (GRCm39) |
I968N |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,265 (GRCm39) |
Y228H |
probably damaging |
Het |
| Nelfcd |
T |
G |
2: 174,268,369 (GRCm39) |
C520G |
probably damaging |
Het |
| Nfrkb |
C |
A |
9: 31,330,345 (GRCm39) |
T1199K |
possibly damaging |
Het |
| Nipa2 |
A |
G |
7: 55,585,611 (GRCm39) |
I109T |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,042,525 (GRCm39) |
T804A |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,763,419 (GRCm39) |
I395K |
possibly damaging |
Het |
| Nt5c1b |
G |
A |
12: 10,425,449 (GRCm39) |
V331I |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,377 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pask |
T |
C |
1: 93,265,246 (GRCm39) |
D3G |
probably damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,933,037 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,019,825 (GRCm39) |
V377M |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,700,749 (GRCm39) |
|
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,135,922 (GRCm39) |
|
probably null |
Het |
| Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,092,551 (GRCm39) |
Y350F |
probably benign |
Het |
| Skint4 |
A |
T |
4: 111,993,261 (GRCm39) |
H328L |
probably damaging |
Het |
| Smyd4 |
G |
A |
11: 75,282,018 (GRCm39) |
C497Y |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,510,497 (GRCm39) |
W864R |
possibly damaging |
Het |
| Stkld1 |
T |
A |
2: 26,841,757 (GRCm39) |
V543E |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,469,940 (GRCm39) |
S963P |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,653,959 (GRCm39) |
L354P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,821,079 (GRCm39) |
L325P |
probably damaging |
Het |
| Trappc3l |
C |
G |
10: 33,974,807 (GRCm39) |
H96Q |
probably benign |
Het |
| Trim66 |
A |
T |
7: 109,056,796 (GRCm39) |
Y1120* |
probably null |
Het |
| Trio |
G |
A |
15: 27,881,428 (GRCm39) |
Q548* |
probably null |
Het |
| Wipf2 |
T |
A |
11: 98,781,558 (GRCm39) |
D32E |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGATGAGGAAATTCAAGAG -3'
(R):5'- GTGCGTGTGTACCAGAGCAC -3'
Sequencing Primer
(F):5'- TTCAAGAGGACCCTATGAAGAGC -3'
(R):5'- ACAGCATCACTTGTTGAGCG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation