Incidental Mutation 'R5623:Dis3l'
ID |
486867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dis3l
|
Ensembl Gene |
ENSMUSG00000032396 |
Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
Synonyms |
|
MMRRC Submission |
043162-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.353)
|
Stock # |
R5623 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
64214038-64248570 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64214885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 895
(F895L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034964]
[ENSMUST00000068367]
[ENSMUST00000113890]
[ENSMUST00000120760]
[ENSMUST00000168844]
[ENSMUST00000216594]
|
AlphaFold |
Q8C0S1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034964
|
SMART Domains |
Protein: ENSMUSP00000034964 Gene: ENSMUSG00000032397
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
43 |
N/A |
INTRINSIC |
Pfam:Swi3
|
63 |
143 |
2.8e-36 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068367
AA Change: F812L
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063830 Gene: ENSMUSG00000032396 AA Change: F812L
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: F812L
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109522 Gene: ENSMUSG00000032396 AA Change: F812L
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: F812L
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113503 Gene: ENSMUSG00000032396 AA Change: F812L
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: F895L
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000129772 Gene: ENSMUSG00000032396 AA Change: F895L
Domain | Start | End | E-Value | Type |
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
RNB
|
465 |
817 |
4.82e-127 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216594
|
Meta Mutation Damage Score |
0.2613 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (65/66) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp8b1 |
T |
G |
18: 64,679,165 (GRCm39) |
Q772P |
possibly damaging |
Het |
B3gnt2 |
C |
G |
11: 22,787,018 (GRCm39) |
A57P |
probably damaging |
Het |
Birc6 |
T |
G |
17: 74,835,651 (GRCm39) |
D63E |
probably damaging |
Het |
Ccdc13 |
T |
C |
9: 121,662,799 (GRCm39) |
E72G |
probably damaging |
Het |
Cfap221 |
C |
T |
1: 119,881,898 (GRCm39) |
A297T |
probably benign |
Het |
Chd1 |
T |
A |
17: 15,975,194 (GRCm39) |
N1081K |
probably damaging |
Het |
Chrm3 |
C |
A |
13: 9,927,423 (GRCm39) |
V538L |
possibly damaging |
Het |
Clec16a |
T |
A |
16: 10,428,985 (GRCm39) |
N37K |
probably benign |
Het |
Cnksr3 |
T |
A |
10: 7,070,548 (GRCm39) |
I229F |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,483,168 (GRCm39) |
I1590T |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,421,976 (GRCm39) |
E148G |
probably damaging |
Het |
Diaph1 |
A |
T |
18: 38,029,146 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
G |
T |
14: 31,007,980 (GRCm39) |
D2142E |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,229,214 (GRCm39) |
V1944A |
possibly damaging |
Het |
Eif4a2 |
C |
T |
16: 22,928,969 (GRCm39) |
|
probably benign |
Het |
Ephb6 |
T |
A |
6: 41,593,415 (GRCm39) |
M487K |
probably benign |
Het |
Fgf18 |
T |
G |
11: 33,084,272 (GRCm39) |
T61P |
probably damaging |
Het |
G6pc2 |
A |
G |
2: 69,056,927 (GRCm39) |
E191G |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,026,318 (GRCm39) |
S55L |
probably benign |
Het |
Gm5414 |
A |
G |
15: 101,534,246 (GRCm39) |
F286S |
probably damaging |
Het |
Gpcpd1 |
G |
T |
2: 132,376,637 (GRCm39) |
A553E |
probably damaging |
Het |
Gpr153 |
A |
G |
4: 152,366,398 (GRCm39) |
D321G |
possibly damaging |
Het |
Hecw2 |
T |
A |
1: 53,871,782 (GRCm39) |
Q1388L |
probably null |
Het |
Ighv14-3 |
A |
C |
12: 114,023,710 (GRCm39) |
S36A |
probably damaging |
Het |
Inpp5j |
C |
A |
11: 3,444,766 (GRCm39) |
G969V |
probably damaging |
Het |
Kat5 |
G |
A |
19: 5,657,590 (GRCm39) |
R307W |
probably damaging |
Het |
Klk1b21 |
A |
G |
7: 43,754,989 (GRCm39) |
S95G |
probably damaging |
Het |
Mdm1 |
G |
A |
10: 117,986,694 (GRCm39) |
V171I |
possibly damaging |
Het |
Nfu1 |
TCGC |
T |
6: 86,993,188 (GRCm39) |
|
probably benign |
Het |
Or5k8 |
C |
T |
16: 58,644,706 (GRCm39) |
R122H |
probably benign |
Het |
Or6c206 |
G |
A |
10: 129,096,901 (GRCm39) |
V24M |
probably benign |
Het |
Phkb |
T |
A |
8: 86,569,677 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,350,351 (GRCm39) |
T399S |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 33,001,852 (GRCm39) |
|
probably benign |
Het |
Psg21 |
A |
C |
7: 18,388,939 (GRCm39) |
L51R |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,153,857 (GRCm38) |
I526N |
probably damaging |
Het |
Rab1a |
T |
C |
11: 20,151,626 (GRCm39) |
|
probably benign |
Het |
Rims2 |
A |
T |
15: 39,342,011 (GRCm39) |
Q620L |
probably damaging |
Het |
Rnf215 |
T |
G |
11: 4,085,453 (GRCm39) |
S58A |
probably benign |
Het |
Scaper |
A |
C |
9: 55,771,791 (GRCm39) |
V375G |
probably benign |
Het |
Sgk3 |
A |
T |
1: 9,872,520 (GRCm39) |
|
probably benign |
Het |
Skic2 |
T |
C |
17: 35,066,408 (GRCm39) |
K192E |
probably benign |
Het |
Slc34a3 |
T |
A |
2: 25,123,312 (GRCm39) |
|
probably null |
Het |
Sspn |
T |
A |
6: 145,906,952 (GRCm39) |
C52S |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,534,142 (GRCm39) |
E164G |
possibly damaging |
Het |
Sult5a1 |
A |
C |
8: 123,884,181 (GRCm39) |
S47A |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,091,964 (GRCm39) |
D1557G |
possibly damaging |
Het |
Tdrd6 |
T |
C |
17: 43,940,224 (GRCm39) |
I275V |
probably damaging |
Het |
Thada |
C |
T |
17: 84,499,411 (GRCm39) |
V1929I |
probably benign |
Het |
Tmem132b |
G |
A |
5: 125,700,416 (GRCm39) |
R318Q |
probably damaging |
Het |
Tmem176b |
T |
G |
6: 48,811,004 (GRCm39) |
I259L |
probably benign |
Het |
Tmppe |
C |
A |
9: 114,234,964 (GRCm39) |
P421Q |
possibly damaging |
Het |
Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
Tpcn2 |
T |
A |
7: 144,821,071 (GRCm39) |
R328W |
possibly damaging |
Het |
Trem1 |
C |
T |
17: 48,544,083 (GRCm39) |
T36I |
probably damaging |
Het |
Trpm2 |
C |
A |
10: 77,767,973 (GRCm39) |
R842L |
probably damaging |
Het |
Zfp319 |
A |
G |
8: 96,052,199 (GRCm39) |
|
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 |
|
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 |
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'- ATGTTACTGCATCATGGCCTTC -3'
(R):5'- GGGAGTACATGTAGACACACATCC -3'
Sequencing Primer
(F):5'- TGCAGAGACTTACCGTCACATGG -3'
(R):5'- CATCCCTACCAGTCTTAGAACTC -3'
|
Posted On |
2017-09-06 |