Incidental Mutation 'R2280:Dis3l'
| ID |
243051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l
|
| Ensembl Gene |
ENSMUSG00000032396 |
| Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
| Synonyms |
|
| MMRRC Submission |
040279-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R2280 (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 64225076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 407
(N407I)
|
| 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: N324I
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: N324I
| 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: N324I
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: N324I
| 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: N324I
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: N324I
| 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: N407I
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: N407I
| 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: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,654,955 (GRCm39) |
N2698S |
probably damaging |
Het |
| Ankrd37 |
T |
C |
8: 46,452,413 (GRCm39) |
T19A |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,802,164 (GRCm39) |
K353N |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,664,724 (GRCm39) |
M888V |
unknown |
Het |
| Apoh |
T |
A |
11: 108,300,006 (GRCm39) |
Y218* |
probably null |
Het |
| Arhgef19 |
G |
A |
4: 140,973,827 (GRCm39) |
G105S |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,069,385 (GRCm39) |
S437P |
probably benign |
Het |
| Cacna2d4 |
A |
T |
6: 119,327,002 (GRCm39) |
Q1089L |
possibly damaging |
Het |
| Ccdc168 |
T |
A |
1: 44,095,620 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Ccser1 |
A |
T |
6: 61,547,799 (GRCm39) |
M49L |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,602,071 (GRCm39) |
V345E |
probably benign |
Het |
| Chaf1b |
T |
G |
16: 93,688,459 (GRCm39) |
Y185D |
probably damaging |
Het |
| Clasp1 |
C |
T |
1: 118,492,913 (GRCm39) |
P1153S |
probably benign |
Het |
| Clvs2 |
A |
T |
10: 33,404,496 (GRCm39) |
I240N |
probably damaging |
Het |
| Cox8c |
A |
T |
12: 102,865,713 (GRCm39) |
H30L |
possibly damaging |
Het |
| Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
| Cyp46a1 |
T |
C |
12: 108,321,730 (GRCm39) |
S319P |
probably damaging |
Het |
| Dcdc5 |
G |
A |
2: 106,202,867 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx4 |
T |
C |
13: 112,757,190 (GRCm39) |
I377V |
probably benign |
Het |
| Dysf |
A |
C |
6: 84,041,476 (GRCm39) |
T161P |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
| Ei24 |
A |
G |
9: 36,693,635 (GRCm39) |
|
probably null |
Het |
| Fbxl19 |
A |
T |
7: 127,347,540 (GRCm39) |
D32V |
possibly damaging |
Het |
| Fgd5 |
G |
A |
6: 91,965,926 (GRCm39) |
V562M |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Frem2 |
A |
G |
3: 53,479,844 (GRCm39) |
C1950R |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,858,359 (GRCm39) |
V40D |
probably damaging |
Het |
| Gcc2 |
C |
A |
10: 58,105,502 (GRCm39) |
T210K |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,750,789 (GRCm39) |
M1991K |
probably damaging |
Het |
| Gpr18 |
T |
A |
14: 122,150,017 (GRCm39) |
T3S |
probably benign |
Het |
| Herc2 |
A |
C |
7: 55,787,019 (GRCm39) |
K1621N |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,249,354 (GRCm39) |
E1300G |
probably damaging |
Het |
| Krtap19-5 |
C |
T |
16: 88,693,231 (GRCm39) |
C27Y |
unknown |
Het |
| Lrrc3b |
A |
T |
14: 15,358,076 (GRCm38) |
L177M |
probably damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,327,266 (GRCm39) |
I118T |
probably benign |
Het |
| Ncoa4-ps |
A |
G |
12: 119,226,573 (GRCm39) |
|
noncoding transcript |
Het |
| Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
| Npy1r |
C |
T |
8: 67,156,711 (GRCm39) |
L44F |
possibly damaging |
Het |
| Or10aa1 |
C |
A |
1: 173,870,087 (GRCm39) |
S190R |
probably benign |
Het |
| Pcx |
C |
A |
19: 4,654,571 (GRCm39) |
R328S |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
| Pum1 |
A |
T |
4: 130,493,322 (GRCm39) |
I696F |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,034,905 (GRCm39) |
V254A |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
| Rsph4a |
A |
T |
10: 33,787,595 (GRCm39) |
I584L |
probably benign |
Het |
| Scamp5 |
A |
G |
9: 57,352,722 (GRCm39) |
V149A |
probably benign |
Het |
| Sike1 |
A |
G |
3: 102,904,694 (GRCm39) |
H134R |
possibly damaging |
Het |
| Slc12a9 |
A |
G |
5: 137,330,474 (GRCm39) |
L77P |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
| Taar7f |
G |
A |
10: 23,925,417 (GRCm39) |
A4T |
probably benign |
Het |
| Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,593,016 (GRCm39) |
R94C |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,661,365 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,248 (GRCm39) |
Y525C |
probably damaging |
Het |
| Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,321,814 (GRCm39) |
Q935L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCAGATGAAACAGCAACAG -3'
(R):5'- GCCATCTGAAGAGTGGCAAG -3'
Sequencing Primer
(F):5'- GAAGCAGAAAGAAATGTATGTCTACG -3'
(R):5'- AGTAAGCCTCTGCAAGCCG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation