Incidental Mutation 'R9394:Dis3l'
| ID |
710745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l
|
| Ensembl Gene |
ENSMUSG00000032396 |
| Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.353)
|
| Stock # |
R9394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64214038-64248570 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64225017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 427
(I427V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068367]
[ENSMUST00000113890]
[ENSMUST00000120760]
[ENSMUST00000168844]
|
| AlphaFold |
Q8C0S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068367
AA Change: I344V
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: I344V
| 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: I344V
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: I344V
| 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: I344V
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: I344V
| 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: I427V
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: I427V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,135,225 (GRCm39) |
D78G |
|
Het |
| Adgrv1 |
A |
G |
13: 81,624,767 (GRCm39) |
V3734A |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,466,187 (GRCm39) |
E1106D |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,145,006 (GRCm39) |
Y639C |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,676,469 (GRCm39) |
V119I |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cfap52 |
A |
G |
11: 67,815,921 (GRCm39) |
*621R |
probably null |
Het |
| Dscaml1 |
G |
A |
9: 45,661,354 (GRCm39) |
V1751I |
possibly damaging |
Het |
| Eif3c |
A |
T |
7: 126,156,550 (GRCm39) |
F432L |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,883,536 (GRCm39) |
N1110S |
probably benign |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,826,792 (GRCm39) |
M1K |
probably null |
Het |
| Igkv3-1 |
T |
A |
6: 70,680,953 (GRCm39) |
Y51N |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,724,217 (GRCm39) |
I600K |
probably benign |
Het |
| Madd |
G |
A |
2: 91,000,199 (GRCm39) |
T569M |
probably benign |
Het |
| Mapk7 |
A |
T |
11: 61,381,858 (GRCm39) |
H351Q |
probably damaging |
Het |
| Met |
A |
C |
6: 17,513,395 (GRCm39) |
Y415S |
probably damaging |
Het |
| Mmd2 |
A |
T |
5: 142,555,239 (GRCm39) |
V151D |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,549,390 (GRCm39) |
D1267G |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,570 (GRCm39) |
V253A |
probably damaging |
Het |
| Or2l13 |
A |
C |
16: 19,306,421 (GRCm39) |
T278P |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,226,019 (GRCm39) |
V249A |
probably benign |
Het |
| Or5w12 |
T |
C |
2: 87,502,094 (GRCm39) |
I206V |
probably benign |
Het |
| Osbpl8 |
C |
T |
10: 111,127,375 (GRCm39) |
R820* |
probably null |
Het |
| Oxsr1 |
C |
A |
9: 119,151,134 (GRCm39) |
E3* |
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,623,862 (GRCm39) |
D1035G |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 16,981,053 (GRCm39) |
T70I |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,291,698 (GRCm39) |
L235S |
probably damaging |
Het |
| Rasal1 |
A |
C |
5: 120,816,746 (GRCm39) |
S761R |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,213,831 (GRCm39) |
N609S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,511,856 (GRCm39) |
S566G |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,942,905 (GRCm39) |
H611R |
probably damaging |
Het |
| Rpl35rt |
T |
C |
1: 156,193,793 (GRCm39) |
V49A |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,324,682 (GRCm39) |
N1382I |
probably damaging |
Het |
| Sgcb |
T |
C |
5: 73,801,653 (GRCm39) |
I71V |
probably benign |
Het |
| Slc6a20a |
C |
A |
9: 123,507,805 (GRCm39) |
V23L |
probably damaging |
Het |
| Slc7a1 |
A |
G |
5: 148,270,712 (GRCm39) |
W585R |
probably damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tom1l2 |
T |
C |
11: 60,132,715 (GRCm39) |
T403A |
probably benign |
Het |
| Trpm1 |
G |
T |
7: 63,918,480 (GRCm39) |
A1491S |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,707,058 (GRCm39) |
D9044E |
unknown |
Het |
| Ube3a |
A |
T |
7: 58,921,960 (GRCm39) |
K111* |
probably null |
Het |
| Wee2 |
A |
G |
6: 40,433,878 (GRCm39) |
H264R |
probably damaging |
Het |
| Zdhhc23 |
T |
A |
16: 43,791,826 (GRCm39) |
I316F |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,254,600 (GRCm39) |
E1398G |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,810,993 (GRCm39) |
P57T |
probably damaging |
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 |
|
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 |
|
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'- TGCACAGTGTGGCATCTTTTCA -3'
(R):5'- AGATTGGGCCATTTAACTCCA -3'
Sequencing Primer
(F):5'- GCATGCACAATTACTCGAGTGTG -3'
(R):5'- AACTCCAGCCTTGGTTGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation