Incidental Mutation 'R0241:Cactin'
ID |
66197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cactin
|
Ensembl Gene |
ENSMUSG00000034889 |
Gene Name |
cactin, spliceosome C complex subunit |
Synonyms |
2510012J08Rik |
MMRRC Submission |
038479-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.580)
|
Stock # |
R0241 (G1)
|
Quality Score |
155 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
81156937-81162076 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81158486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 151
(T151A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045469]
[ENSMUST00000050867]
[ENSMUST00000105327]
[ENSMUST00000161854]
[ENSMUST00000161869]
[ENSMUST00000163075]
[ENSMUST00000218120]
|
AlphaFold |
Q9CS00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045469
|
SMART Domains |
Protein: ENSMUSP00000038225 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
PIPKc
|
103 |
444 |
2.72e-164 |
SMART |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
low complexity region
|
601 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050867
AA Change: T151A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000059533 Gene: ENSMUSG00000034889 AA Change: T151A
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
101 |
N/A |
INTRINSIC |
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
coiled coil region
|
157 |
184 |
N/A |
INTRINSIC |
low complexity region
|
186 |
206 |
N/A |
INTRINSIC |
low complexity region
|
246 |
253 |
N/A |
INTRINSIC |
Pfam:Cactin_mid
|
292 |
479 |
2.1e-68 |
PFAM |
low complexity region
|
507 |
524 |
N/A |
INTRINSIC |
low complexity region
|
531 |
558 |
N/A |
INTRINSIC |
low complexity region
|
596 |
607 |
N/A |
INTRINSIC |
CactinC_cactus
|
648 |
772 |
2.13e-87 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105327
|
SMART Domains |
Protein: ENSMUSP00000100964 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
PIPKc
|
103 |
444 |
2.72e-164 |
SMART |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
low complexity region
|
601 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159636
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161586
|
SMART Domains |
Protein: ENSMUSP00000124612 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
low complexity region
|
54 |
81 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161854
|
SMART Domains |
Protein: ENSMUSP00000124004 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161869
|
SMART Domains |
Protein: ENSMUSP00000124235 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219285
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163075
|
SMART Domains |
Protein: ENSMUSP00000124155 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
PIPKc
|
103 |
444 |
2.72e-164 |
SMART |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
low complexity region
|
601 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218120
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 89.8%
- 20x: 65.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,470,549 (GRCm39) |
M1527K |
possibly damaging |
Het |
Bicra |
A |
T |
7: 15,709,070 (GRCm39) |
M1188K |
probably damaging |
Het |
Brd7 |
G |
A |
8: 89,072,478 (GRCm39) |
R331W |
probably benign |
Het |
Cadps |
G |
A |
14: 12,376,675 (GRCm38) |
T1274M |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,952,667 (GRCm39) |
M175T |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,450,589 (GRCm39) |
D605G |
probably damaging |
Het |
Chst12 |
G |
A |
5: 140,510,054 (GRCm39) |
R227H |
possibly damaging |
Het |
Cobl |
A |
T |
11: 12,204,524 (GRCm39) |
V644E |
probably benign |
Het |
Ddx31 |
A |
G |
2: 28,738,303 (GRCm39) |
T155A |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,521,953 (GRCm39) |
Q4069R |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
Doc2b |
A |
G |
11: 75,663,387 (GRCm39) |
V355A |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,556,340 (GRCm39) |
S578T |
probably benign |
Het |
Fcer2a |
A |
G |
8: 3,738,796 (GRCm39) |
|
probably null |
Het |
Fmnl1 |
G |
A |
11: 103,072,996 (GRCm39) |
|
probably null |
Het |
Git2 |
T |
C |
5: 114,871,290 (GRCm39) |
E208G |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,376,232 (GRCm39) |
F136L |
probably benign |
Het |
Hydin |
G |
A |
8: 111,124,655 (GRCm39) |
V555I |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,276,494 (GRCm39) |
L1726S |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,027,114 (GRCm39) |
D615G |
probably damaging |
Het |
Nfasc |
C |
A |
1: 132,564,731 (GRCm39) |
A70S |
probably benign |
Het |
Or4d1 |
T |
A |
11: 87,804,860 (GRCm39) |
N291Y |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,889 (GRCm39) |
M131K |
possibly damaging |
Het |
Or52n4 |
A |
G |
7: 104,294,450 (GRCm39) |
M41T |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,154 (GRCm39) |
K90R |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,311,962 (GRCm39) |
C239R |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,368,027 (GRCm39) |
L2654Q |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,575,110 (GRCm39) |
|
probably null |
Het |
Proz |
T |
A |
8: 13,115,356 (GRCm39) |
M124K |
probably benign |
Het |
Raet1d |
A |
G |
10: 22,247,328 (GRCm39) |
T135A |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,592,682 (GRCm39) |
N558S |
possibly damaging |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Simc1 |
G |
T |
13: 54,698,338 (GRCm39) |
L1319F |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,438,429 (GRCm39) |
E1499G |
possibly damaging |
Het |
Tas2r118 |
T |
C |
6: 23,969,338 (GRCm39) |
Y241C |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,430,636 (GRCm39) |
E344G |
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tmbim7 |
A |
T |
5: 3,716,866 (GRCm39) |
Y66F |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,465,853 (GRCm39) |
L548P |
probably damaging |
Het |
Wdr3 |
A |
G |
3: 100,052,973 (GRCm39) |
V593A |
probably damaging |
Het |
Zan |
T |
C |
5: 137,420,084 (GRCm39) |
T2858A |
unknown |
Het |
Zbtb37 |
A |
T |
1: 160,847,939 (GRCm39) |
V356E |
probably benign |
Het |
Zfp36 |
C |
T |
7: 28,077,759 (GRCm39) |
V50I |
probably damaging |
Het |
Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
|
Other mutations in Cactin |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01124:Cactin
|
APN |
10 |
81,160,184 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01631:Cactin
|
APN |
10 |
81,159,058 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01816:Cactin
|
APN |
10 |
81,161,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02484:Cactin
|
APN |
10 |
81,158,808 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03001:Cactin
|
APN |
10 |
81,161,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R0241:Cactin
|
UTSW |
10 |
81,158,486 (GRCm39) |
missense |
probably benign |
|
R0326:Cactin
|
UTSW |
10 |
81,158,496 (GRCm39) |
missense |
probably benign |
0.01 |
R0570:Cactin
|
UTSW |
10 |
81,159,067 (GRCm39) |
missense |
probably damaging |
0.98 |
R0591:Cactin
|
UTSW |
10 |
81,159,837 (GRCm39) |
nonsense |
probably null |
|
R1429:Cactin
|
UTSW |
10 |
81,159,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R1444:Cactin
|
UTSW |
10 |
81,158,270 (GRCm39) |
splice site |
probably null |
|
R1470:Cactin
|
UTSW |
10 |
81,158,985 (GRCm39) |
nonsense |
probably null |
|
R1470:Cactin
|
UTSW |
10 |
81,158,985 (GRCm39) |
nonsense |
probably null |
|
R1630:Cactin
|
UTSW |
10 |
81,159,559 (GRCm39) |
missense |
probably benign |
0.26 |
R2022:Cactin
|
UTSW |
10 |
81,158,727 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3401:Cactin
|
UTSW |
10 |
81,161,709 (GRCm39) |
missense |
probably benign |
0.07 |
R3402:Cactin
|
UTSW |
10 |
81,161,709 (GRCm39) |
missense |
probably benign |
0.07 |
R3403:Cactin
|
UTSW |
10 |
81,161,709 (GRCm39) |
missense |
probably benign |
0.07 |
R5284:Cactin
|
UTSW |
10 |
81,159,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R6126:Cactin
|
UTSW |
10 |
81,160,143 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6127:Cactin
|
UTSW |
10 |
81,160,143 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6907:Cactin
|
UTSW |
10 |
81,159,278 (GRCm39) |
critical splice donor site |
probably null |
|
R7339:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7340:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7558:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7625:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7627:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7904:Cactin
|
UTSW |
10 |
81,161,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8825:Cactin
|
UTSW |
10 |
81,161,492 (GRCm39) |
missense |
probably damaging |
0.99 |
R8885:Cactin
|
UTSW |
10 |
81,157,082 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
|
Posted On |
2013-08-19 |