Incidental Mutation 'IGL01538:Dis3'
| ID |
90055 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dis3
|
| Ensembl Gene |
ENSMUSG00000033166 |
| Gene Name |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
| Synonyms |
2810028N01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99335181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 140
(N140K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
[ENSMUST00000042471]
[ENSMUST00000227022]
[ENSMUST00000228643]
|
| AlphaFold |
Q9CSH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022650
|
| SMART Domains |
Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
200 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
396 |
444 |
N/A |
INTRINSIC |
|
coiled coil region
|
474 |
553 |
N/A |
INTRINSIC |
|
coiled coil region
|
586 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042471
AA Change: N140K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: N140K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
PINc
|
64 |
182 |
2.8e-24 |
SMART |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
RNB
|
467 |
797 |
5.56e-141 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228354
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228643
AA Change: N140K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,708,032 (GRCm39) |
|
noncoding transcript |
Het |
| Abca3 |
G |
T |
17: 24,595,447 (GRCm39) |
C328F |
possibly damaging |
Het |
| Aldh5a1 |
T |
C |
13: 25,102,495 (GRCm39) |
N323D |
possibly damaging |
Het |
| Atp5f1c |
T |
C |
2: 10,073,477 (GRCm39) |
Y32C |
probably damaging |
Het |
| Capn3 |
T |
G |
2: 120,332,667 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
C |
A |
8: 96,277,866 (GRCm39) |
D275E |
probably benign |
Het |
| Ccdc40 |
T |
A |
11: 119,133,545 (GRCm39) |
F562I |
possibly damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,306 (GRCm39) |
Y99H |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,929,490 (GRCm39) |
T152A |
possibly damaging |
Het |
| Cdh20 |
T |
A |
1: 109,988,870 (GRCm39) |
D257E |
probably damaging |
Het |
| Cilp2 |
T |
C |
8: 70,333,854 (GRCm39) |
D1048G |
probably benign |
Het |
| Clrn2 |
T |
G |
5: 45,617,408 (GRCm39) |
L93R |
probably damaging |
Het |
| Crat |
C |
A |
2: 30,299,978 (GRCm39) |
G134V |
probably damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,352,660 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
T |
A |
11: 120,683,905 (GRCm39) |
Q181L |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,421,047 (GRCm39) |
H90L |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,192,951 (GRCm39) |
V164E |
probably damaging |
Het |
| Grik3 |
A |
C |
4: 125,587,829 (GRCm39) |
I650L |
possibly damaging |
Het |
| Gvin3 |
T |
C |
7: 106,201,744 (GRCm39) |
D500G |
probably damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,896 (GRCm39) |
T233S |
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,602,288 (GRCm39) |
V341D |
probably benign |
Het |
| Igsf21 |
A |
G |
4: 139,755,029 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,758,538 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
G |
5: 123,919,721 (GRCm39) |
V864G |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,780,816 (GRCm39) |
E235G |
possibly damaging |
Het |
| Man2b1 |
G |
T |
8: 85,824,059 (GRCm39) |
K985N |
probably benign |
Het |
| Map4k1 |
C |
A |
7: 28,701,044 (GRCm39) |
P670Q |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,319 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,093 (GRCm39) |
Y178* |
probably null |
Het |
| Mrpl11 |
T |
A |
19: 5,013,449 (GRCm39) |
|
probably null |
Het |
| Nup85 |
T |
C |
11: 115,460,540 (GRCm39) |
S140P |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,167 (GRCm39) |
L199P |
possibly damaging |
Het |
| Or1j20 |
T |
C |
2: 36,760,532 (GRCm39) |
|
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,585,350 (GRCm39) |
V252E |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,576,942 (GRCm39) |
V134A |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,428,375 (GRCm39) |
L116* |
probably null |
Het |
| Pdcd7 |
C |
A |
9: 65,253,985 (GRCm39) |
R188S |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,918,111 (GRCm39) |
Y374C |
probably damaging |
Het |
| Ppp1r12a |
G |
T |
10: 108,069,882 (GRCm39) |
D224Y |
probably damaging |
Het |
| Ppp2r2d |
T |
A |
7: 138,478,364 (GRCm39) |
Y169N |
probably damaging |
Het |
| Prcp |
A |
C |
7: 92,559,421 (GRCm39) |
T162P |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,388,925 (GRCm39) |
S873P |
probably benign |
Het |
| Ptpn2 |
T |
C |
18: 67,814,623 (GRCm39) |
T129A |
probably benign |
Het |
| Rtkn |
G |
A |
6: 83,123,042 (GRCm39) |
R68H |
probably damaging |
Het |
| Sall4 |
C |
T |
2: 168,597,776 (GRCm39) |
D355N |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,534,196 (GRCm39) |
V493A |
probably benign |
Het |
| Sema4b |
G |
A |
7: 79,865,444 (GRCm39) |
A140T |
probably damaging |
Het |
| Shisa6 |
C |
A |
11: 66,108,654 (GRCm39) |
G408C |
possibly damaging |
Het |
| Slc7a9 |
G |
T |
7: 35,153,589 (GRCm39) |
V197F |
probably damaging |
Het |
| Spata2 |
A |
T |
2: 167,326,071 (GRCm39) |
D249E |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,672,797 (GRCm39) |
V1013E |
probably benign |
Het |
| Tcp10a |
T |
C |
17: 7,610,899 (GRCm39) |
V336A |
probably damaging |
Het |
| Tfb2m |
A |
T |
1: 179,365,409 (GRCm39) |
V185D |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,937,396 (GRCm39) |
Y76F |
probably benign |
Het |
| Tph1 |
T |
C |
7: 46,303,177 (GRCm39) |
Y267C |
probably damaging |
Het |
| Trgv1 |
G |
A |
13: 19,520,740 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
A |
G |
10: 71,091,656 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,716 (GRCm39) |
R282S |
probably damaging |
Het |
| Vps4a |
A |
G |
8: 107,763,556 (GRCm39) |
D72G |
probably benign |
Het |
| Wipf2 |
T |
A |
11: 98,781,629 (GRCm39) |
V56D |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,402,991 (GRCm39) |
V586L |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,486,399 (GRCm39) |
E358G |
possibly damaging |
Het |
|
| Other mutations in Dis3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Dis3
|
APN |
14 |
99,320,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Dis3
|
APN |
14 |
99,328,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00975:Dis3
|
APN |
14 |
99,316,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01536:Dis3
|
APN |
14 |
99,316,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02143:Dis3
|
APN |
14 |
99,328,754 (GRCm39) |
splice site |
probably benign |
|
|
IGL02270:Dis3
|
APN |
14 |
99,315,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02354:Dis3
|
APN |
14 |
99,317,148 (GRCm39) |
nonsense |
probably null |
|
|
IGL02361:Dis3
|
APN |
14 |
99,317,148 (GRCm39) |
nonsense |
probably null |
|
|
IGL02650:Dis3
|
APN |
14 |
99,336,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03053:Dis3
|
APN |
14 |
99,336,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03057:Dis3
|
APN |
14 |
99,327,426 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03389:Dis3
|
APN |
14 |
99,332,783 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Dis3
|
UTSW |
14 |
99,324,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Dis3
|
UTSW |
14 |
99,318,826 (GRCm39) |
splice site |
probably benign |
|
|
R1535:Dis3
|
UTSW |
14 |
99,316,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Dis3
|
UTSW |
14 |
99,323,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Dis3
|
UTSW |
14 |
99,321,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Dis3
|
UTSW |
14 |
99,328,905 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1938:Dis3
|
UTSW |
14 |
99,335,026 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2056:Dis3
|
UTSW |
14 |
99,336,251 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2133:Dis3
|
UTSW |
14 |
99,317,313 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2448:Dis3
|
UTSW |
14 |
99,324,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3407:Dis3
|
UTSW |
14 |
99,336,212 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4052:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4207:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4208:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4465:Dis3
|
UTSW |
14 |
99,321,550 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4612:Dis3
|
UTSW |
14 |
99,328,871 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4859:Dis3
|
UTSW |
14 |
99,325,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Dis3
|
UTSW |
14 |
99,326,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Dis3
|
UTSW |
14 |
99,336,242 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5335:Dis3
|
UTSW |
14 |
99,335,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5409:Dis3
|
UTSW |
14 |
99,323,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5802:Dis3
|
UTSW |
14 |
99,337,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Dis3
|
UTSW |
14 |
99,336,215 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6309:Dis3
|
UTSW |
14 |
99,323,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7275:Dis3
|
UTSW |
14 |
99,324,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Dis3
|
UTSW |
14 |
99,337,042 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7535:Dis3
|
UTSW |
14 |
99,327,415 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7794:Dis3
|
UTSW |
14 |
99,336,233 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8013:Dis3
|
UTSW |
14 |
99,314,835 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8014:Dis3
|
UTSW |
14 |
99,314,835 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8077:Dis3
|
UTSW |
14 |
99,327,471 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8957:Dis3
|
UTSW |
14 |
99,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Dis3
|
UTSW |
14 |
99,332,647 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9073:Dis3
|
UTSW |
14 |
99,332,647 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9345:Dis3
|
UTSW |
14 |
99,318,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Dis3
|
UTSW |
14 |
99,316,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation