Incidental Mutation 'R1794:Dis3l'
| ID |
202056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l
|
| Ensembl Gene |
ENSMUSG00000032396 |
| Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
| Synonyms |
|
| MMRRC Submission |
039824-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.353)
|
| Stock # |
R1794 (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 64225058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 413
(V413G)
|
| 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: V330G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: V330G
| 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: V330G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: V330G
| 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: V330G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: V330G
| 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: V413G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: V413G
| 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: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 91.1%
|
| 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 |
|---|
| Anxa7 |
A |
G |
14: 20,521,535 (GRCm39) |
Y54H |
unknown |
Het |
| Arhgef3 |
A |
G |
14: 27,119,562 (GRCm39) |
T331A |
probably benign |
Het |
| Arhgef40 |
G |
T |
14: 52,227,387 (GRCm39) |
C477F |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp13a5 |
C |
A |
16: 29,140,527 (GRCm39) |
R343L |
probably damaging |
Het |
| Brdt |
ACAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGC |
5: 107,507,719 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
G |
T |
10: 80,479,747 (GRCm39) |
D426E |
probably damaging |
Het |
| Cabin1 |
A |
C |
10: 75,561,579 (GRCm39) |
I974R |
possibly damaging |
Het |
| Cacna1i |
G |
A |
15: 80,273,323 (GRCm39) |
V1670M |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,845,594 (GRCm39) |
Q288K |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,550 (GRCm39) |
I37K |
possibly damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,019,159 (GRCm39) |
V40A |
probably benign |
Het |
| Cdcp1 |
T |
C |
9: 123,044,896 (GRCm39) |
T27A |
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,528,635 (GRCm39) |
T581I |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,669,864 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
G |
A |
9: 108,794,996 (GRCm39) |
G1493D |
unknown |
Het |
| Creb3 |
A |
G |
4: 43,563,302 (GRCm39) |
E133G |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,420,927 (GRCm39) |
T498A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,001,941 (GRCm39) |
E3865G |
probably damaging |
Het |
| Fam219b |
A |
G |
9: 57,446,564 (GRCm39) |
Y139C |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,908,432 (GRCm39) |
Y2523* |
probably null |
Het |
| Fat3 |
A |
T |
9: 15,908,434 (GRCm39) |
Y2523N |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,087,973 (GRCm39) |
S40P |
probably benign |
Het |
| Gm4792 |
T |
C |
10: 94,134,352 (GRCm39) |
D6G |
unknown |
Het |
| Hhat |
G |
T |
1: 192,376,214 (GRCm39) |
Y306* |
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,474,036 (GRCm39) |
I4802T |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,502,903 (GRCm39) |
T3908I |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,238 (GRCm39) |
N79K |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,186,955 (GRCm39) |
Y579F |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,276,957 (GRCm39) |
D838G |
probably benign |
Het |
| Klhdc7b |
T |
C |
15: 89,271,223 (GRCm39) |
S702P |
probably benign |
Het |
| Lingo3 |
C |
A |
10: 80,671,432 (GRCm39) |
R166L |
probably benign |
Het |
| Lins1 |
T |
C |
7: 66,361,657 (GRCm39) |
F436S |
probably damaging |
Het |
| Lman1 |
T |
C |
18: 66,124,755 (GRCm39) |
D328G |
probably benign |
Het |
| Lox |
A |
G |
18: 52,661,379 (GRCm39) |
C232R |
probably damaging |
Het |
| Lrrc59 |
T |
C |
11: 94,529,421 (GRCm39) |
V165A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,287,528 (GRCm39) |
D50G |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,839,594 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Mcf2l |
T |
C |
8: 12,965,982 (GRCm39) |
F3L |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nin |
G |
A |
12: 70,090,569 (GRCm39) |
Q949* |
probably null |
Het |
| Nlgn3 |
A |
G |
X: 100,363,639 (GRCm39) |
H636R |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,006,863 (GRCm39) |
D411G |
possibly damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,364 (GRCm39) |
Y30C |
probably damaging |
Het |
| Or5b24 |
G |
C |
19: 12,912,332 (GRCm39) |
A77P |
probably damaging |
Het |
| Pate7 |
T |
A |
9: 35,688,418 (GRCm39) |
I56F |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 115,739,916 (GRCm39) |
V579A |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,533,528 (GRCm39) |
|
probably benign |
Het |
| Rab7b |
T |
C |
1: 131,624,806 (GRCm39) |
|
probably null |
Het |
| Reg3b |
G |
T |
6: 78,349,197 (GRCm39) |
|
probably null |
Het |
| Rgs20 |
A |
G |
1: 4,980,795 (GRCm39) |
Y177H |
probably damaging |
Het |
| Ripk3 |
G |
T |
14: 56,022,786 (GRCm39) |
N379K |
probably benign |
Het |
| Rnf220 |
G |
T |
4: 117,164,765 (GRCm39) |
Q7K |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,000,199 (GRCm39) |
K1109* |
probably null |
Het |
| Slc22a7 |
T |
G |
17: 46,744,079 (GRCm39) |
R460S |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,644,326 (GRCm39) |
M975V |
probably damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,533,952 (GRCm39) |
I1100F |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,950 (GRCm39) |
E207G |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,058,656 (GRCm39) |
E369G |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,890,434 (GRCm39) |
E44G |
probably benign |
Het |
| Tcf4 |
T |
A |
18: 69,790,924 (GRCm39) |
M178K |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,458,728 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,972,877 (GRCm39) |
I521N |
probably damaging |
Het |
| Tmem203 |
A |
G |
2: 25,146,006 (GRCm39) |
T109A |
probably benign |
Het |
| Tmem50b |
T |
C |
16: 91,374,917 (GRCm39) |
I126V |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,595,006 (GRCm39) |
F3813L |
probably benign |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,521 (GRCm39) |
R101W |
probably damaging |
Het |
| Vmn2r79 |
G |
A |
7: 86,650,621 (GRCm39) |
V136I |
probably benign |
Het |
| Wdr38 |
A |
G |
2: 38,890,741 (GRCm39) |
Y205C |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,264 (GRCm39) |
F442L |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,599 (GRCm39) |
I236T |
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 |
|
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 |
|
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'- TGTTGACCTCTGGCCTCCATAT -3'
(R):5'- CCAGAGAGCAGAGTAAGCCTC -3'
Sequencing Primer
(F):5'- GCATGCACAATTACTCGAGTGTG -3'
(R):5'- AGTAAGCCTCTGCAAGCCG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation