Incidental Mutation 'R8329:Dis3l'
| ID |
644264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l
|
| Ensembl Gene |
ENSMUSG00000032396 |
| Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
| Synonyms |
|
| MMRRC Submission |
067859-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R8329 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
64214038-64248570 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64219112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 606
(D606G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068367]
[ENSMUST00000113890]
[ENSMUST00000120760]
[ENSMUST00000168844]
|
| AlphaFold |
Q8C0S1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068367
AA Change: D523G
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: D523G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113890
AA Change: D523G
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: D523G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120760
AA Change: D523G
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: D523G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168844
AA Change: D606G
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: D606G
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,461,978 (GRCm39) |
|
probably null |
Het |
| Ackr4 |
A |
G |
9: 103,976,660 (GRCm39) |
F96L |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,186,376 (GRCm39) |
I596T |
possibly damaging |
Het |
| Aff3 |
G |
A |
1: 38,244,135 (GRCm39) |
R879W |
probably benign |
Het |
| Apob |
A |
G |
12: 8,061,135 (GRCm39) |
R3206G |
probably damaging |
Het |
| Atg7 |
T |
A |
6: 114,663,057 (GRCm39) |
D224E |
possibly damaging |
Het |
| Capn12 |
T |
C |
7: 28,582,626 (GRCm39) |
F167S |
probably damaging |
Het |
| Ccdc3 |
T |
G |
2: 5,233,848 (GRCm39) |
V224G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,874,714 (GRCm39) |
V452I |
probably damaging |
Het |
| Cherp |
G |
A |
8: 73,215,852 (GRCm39) |
R834C |
|
Het |
| Clptm1l |
T |
A |
13: 73,760,547 (GRCm39) |
I310N |
probably damaging |
Het |
| Cog3 |
A |
T |
14: 75,978,003 (GRCm39) |
D230E |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,005 (GRCm39) |
I1101F |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,343,282 (GRCm39) |
M313K |
probably damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,174,906 (GRCm39) |
C435* |
probably null |
Het |
| Defb13 |
A |
G |
8: 22,438,562 (GRCm39) |
E40G |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,568,675 (GRCm39) |
L1579P |
probably damaging |
Het |
| Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,747,921 (GRCm39) |
G1776E |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,037,154 (GRCm39) |
T232A |
probably benign |
Het |
| Gprc6a |
A |
T |
10: 51,503,355 (GRCm39) |
Y169* |
probably null |
Het |
| Guca2b |
T |
C |
4: 119,516,001 (GRCm39) |
S18G |
unknown |
Het |
| Hars2 |
A |
G |
18: 36,922,288 (GRCm39) |
D301G |
possibly damaging |
Het |
| Haus5 |
T |
A |
7: 30,358,984 (GRCm39) |
Q226L |
possibly damaging |
Het |
| Hc |
G |
A |
2: 34,902,910 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
T |
C |
10: 14,004,011 (GRCm39) |
V203A |
probably damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,899,543 (GRCm39) |
Y111C |
probably damaging |
Het |
| Hoxd13 |
G |
T |
2: 74,498,661 (GRCm39) |
R3L |
probably benign |
Het |
| Hspa8 |
T |
G |
9: 40,713,897 (GRCm39) |
I130S |
probably damaging |
Het |
| Ier5l |
C |
A |
2: 30,362,861 (GRCm39) |
C388F |
possibly damaging |
Het |
| Ldc1 |
C |
T |
4: 130,109,156 (GRCm39) |
V295M |
possibly damaging |
Het |
| Lmx1a |
A |
G |
1: 167,517,372 (GRCm39) |
N10S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,272 (GRCm39) |
I1054T |
probably benign |
Het |
| Me1 |
C |
T |
9: 86,501,790 (GRCm39) |
D268N |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,226,525 (GRCm39) |
P1501S |
unknown |
Het |
| Myo1d |
T |
C |
11: 80,528,900 (GRCm39) |
M641V |
probably benign |
Het |
| Nuggc |
G |
A |
14: 65,878,731 (GRCm39) |
R667K |
probably benign |
Het |
| Oprl1 |
T |
A |
2: 181,360,717 (GRCm39) |
C231S |
probably damaging |
Het |
| Or11g26 |
T |
C |
14: 50,753,015 (GRCm39) |
F118S |
probably damaging |
Het |
| Or13p10 |
A |
C |
4: 118,523,604 (GRCm39) |
N297H |
probably damaging |
Het |
| Pard3b |
C |
A |
1: 62,676,957 (GRCm39) |
Q1163K |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 116,017,283 (GRCm39) |
Y158C |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 17,098,629 (GRCm39) |
S1378A |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,712,110 (GRCm39) |
T158K |
probably damaging |
Het |
| Rbm42 |
T |
A |
7: 30,344,582 (GRCm39) |
E227V |
unknown |
Het |
| Ripor3 |
T |
C |
2: 167,825,119 (GRCm39) |
R797G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,492,855 (GRCm39) |
H3764L |
possibly damaging |
Het |
| Sbno2 |
T |
C |
10: 79,900,221 (GRCm39) |
Y541C |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,365,030 (GRCm39) |
V396A |
probably damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,039,409 (GRCm39) |
L73P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,934,407 (GRCm39) |
I278T |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,285,450 (GRCm39) |
L274* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,211,003 (GRCm39) |
N341K |
probably damaging |
Het |
| Timm29 |
A |
G |
9: 21,505,001 (GRCm39) |
Y223C |
probably damaging |
Het |
| Tmprss2 |
T |
A |
16: 97,369,665 (GRCm39) |
M370L |
probably benign |
Het |
| Tmtc3 |
T |
A |
10: 100,283,296 (GRCm39) |
N753I |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,558,832 (GRCm39) |
C699* |
probably null |
Het |
| Trav5d-4 |
G |
A |
14: 53,239,208 (GRCm39) |
W13* |
probably null |
Het |
| Trdn |
A |
G |
10: 33,320,074 (GRCm39) |
|
probably null |
Het |
| Tsg101 |
A |
T |
7: 46,558,808 (GRCm39) |
Y68N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,664,062 (GRCm39) |
V11649A |
unknown |
Het |
| Wnk2 |
A |
T |
13: 49,248,914 (GRCm39) |
V379D |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,990,903 (GRCm39) |
|
probably null |
Het |
| Yme1l1 |
C |
T |
2: 23,054,597 (GRCm39) |
Q139* |
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 |
|
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 |
|
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'- GCTAGGATCATGCACTCAGC -3'
(R):5'- ATTATCCTGTTGATGTCCCTGG -3'
Sequencing Primer
(F):5'- ACCGTCTCGTGAACCTCCAG -3'
(R):5'- ATGTCCCTGGTTTTATAGGTATGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation