Incidental Mutation 'R8942:Dis3l'
| ID |
681050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l
|
| Ensembl Gene |
ENSMUSG00000032396 |
| Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R8942 (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 64214875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 898
(K898R)
|
| 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 |
probably benign
Transcript: ENSMUST00000068367
AA Change: K815R
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: K815R
| 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: K815R
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: K815R
| 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: K815R
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: K815R
| 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: K898R
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: K898R
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,790,732 (GRCm39) |
D833E |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,796,568 (GRCm39) |
I626L |
probably benign |
Het |
| AI182371 |
A |
C |
2: 34,990,622 (GRCm39) |
L25R |
probably damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,790,991 (GRCm39) |
Q138K |
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,353,658 (GRCm39) |
F491L |
probably damaging |
Het |
| Bcap29 |
T |
A |
12: 31,684,353 (GRCm39) |
M1L |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,773,583 (GRCm39) |
D294G |
probably benign |
Het |
| Ccdc170 |
C |
T |
10: 4,484,044 (GRCm39) |
A290V |
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,741,292 (GRCm39) |
L228I |
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,170,768 (GRCm39) |
V645D |
probably benign |
Het |
| Cyp4a31 |
C |
T |
4: 115,426,918 (GRCm39) |
R173W |
possibly damaging |
Het |
| Efr3b |
G |
T |
12: 4,032,091 (GRCm39) |
H172Q |
possibly damaging |
Het |
| Eipr1 |
A |
T |
12: 28,917,053 (GRCm39) |
N374Y |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,392,002 (GRCm39) |
E414D |
possibly damaging |
Het |
| Exoc3l4 |
G |
T |
12: 111,392,003 (GRCm39) |
V415L |
probably benign |
Het |
| Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,619,134 (GRCm39) |
T80A |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,292,287 (GRCm39) |
S501P |
probably benign |
Het |
| Gm10643 |
A |
G |
8: 84,790,799 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,481,395 (GRCm39) |
V445D |
probably benign |
Het |
| Hells |
CT |
C |
19: 38,942,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpr |
T |
G |
4: 136,059,791 (GRCm39) |
D197E |
possibly damaging |
Het |
| Hspb1 |
G |
A |
5: 135,916,928 (GRCm39) |
V6M |
probably damaging |
Het |
| Iglon5 |
A |
G |
7: 43,126,315 (GRCm39) |
V196A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,103,720 (GRCm39) |
T1142A |
probably benign |
Het |
| Katnip |
T |
G |
7: 125,449,975 (GRCm39) |
L1013R |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,724,244 (GRCm39) |
D587V |
probably damaging |
Het |
| Lmln |
C |
T |
16: 32,901,330 (GRCm39) |
P242L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,173,307 (GRCm39) |
|
probably null |
Het |
| Mrgpre |
T |
C |
7: 143,335,002 (GRCm39) |
Y167C |
|
Het |
| Mtx2 |
A |
T |
2: 74,699,696 (GRCm39) |
I156F |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,381,104 (GRCm39) |
S563T |
probably benign |
Het |
| Nmbr |
C |
T |
10: 14,646,197 (GRCm39) |
S357L |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,594 (GRCm39) |
I49N |
possibly damaging |
Het |
| Or4e1 |
A |
C |
14: 52,700,692 (GRCm39) |
I258S |
probably damaging |
Het |
| Or4f14 |
T |
A |
2: 111,743,207 (GRCm39) |
I23F |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,802 (GRCm39) |
N42S |
probably damaging |
Het |
| Or4k15b |
A |
C |
14: 50,272,602 (GRCm39) |
L86R |
probably damaging |
Het |
| Or4p4 |
C |
T |
2: 88,483,308 (GRCm39) |
L271F |
possibly damaging |
Het |
| Pctp |
A |
G |
11: 89,875,554 (GRCm39) |
M203T |
possibly damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,036,084 (GRCm39) |
V261A |
probably benign |
Het |
| Pm20d1 |
G |
T |
1: 131,739,785 (GRCm39) |
V378F |
possibly damaging |
Het |
| Ppcdc |
C |
T |
9: 57,342,265 (GRCm39) |
R19H |
probably benign |
Het |
| Pramel26 |
T |
C |
4: 143,536,861 (GRCm39) |
N490S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,082,598 (GRCm39) |
E1332G |
probably damaging |
Het |
| Sgce |
G |
T |
6: 4,730,027 (GRCm39) |
L66M |
probably benign |
Het |
| Sycp2l |
G |
T |
13: 41,277,522 (GRCm39) |
|
probably null |
Het |
| Tars1 |
G |
T |
15: 11,384,183 (GRCm39) |
H695N |
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,876,851 (GRCm39) |
V107A |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,805,793 (GRCm39) |
M1550K |
possibly damaging |
Het |
| Ttf2 |
A |
C |
3: 100,869,042 (GRCm39) |
S431R |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,512,468 (GRCm39) |
D126G |
possibly damaging |
Het |
| Usp17lb |
C |
T |
7: 104,490,583 (GRCm39) |
V115I |
possibly damaging |
Het |
| Vezf1 |
A |
G |
11: 87,972,553 (GRCm39) |
T305A |
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,876 (GRCm39) |
N31K |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,211,808 (GRCm39) |
K380E |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,971 (GRCm39) |
Y499* |
probably null |
Het |
| Zfp777 |
T |
C |
6: 48,006,125 (GRCm39) |
E467G |
probably benign |
Het |
| Zkscan4 |
C |
A |
13: 21,668,680 (GRCm39) |
P406Q |
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 |
|
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 |
|
|
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'- CATGTTACTGCATCATGGCC -3'
(R):5'- GGAGTACATGTAGACACACATCCC -3'
Sequencing Primer
(F):5'- CATTGAATGCAGAGACTTACCGTC -3'
(R):5'- CATCCCTACCAGTCTTAGAACTC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation