Incidental Mutation 'R5284:Cactin'
ID |
402948 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cactin
|
Ensembl Gene |
ENSMUSG00000034889 |
Gene Name |
cactin, spliceosome C complex subunit |
Synonyms |
2510012J08Rik |
MMRRC Submission |
042841-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.580)
|
Stock # |
R5284 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
81156937-81162076 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81159596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 51
(D51G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045469]
[ENSMUST00000050867]
[ENSMUST00000105325]
[ENSMUST00000161854]
[ENSMUST00000163075]
[ENSMUST00000218120]
[ENSMUST00000220312]
|
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 damaging
Transcript: ENSMUST00000050867
AA Change: D365G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059533 Gene: ENSMUSG00000034889 AA Change: D365G
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: ENSMUST00000105325
|
SMART Domains |
Protein: ENSMUSP00000100962 Gene: ENSMUSG00000034881
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
41 |
305 |
2.1e-24 |
PFAM |
|
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: 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 damaging
Transcript: ENSMUST00000218120
AA Change: D51G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219285
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
A |
7: 45,630,483 (GRCm39) |
Q1259L |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,327,052 (GRCm39) |
S522P |
probably damaging |
Het |
Asic5 |
C |
T |
3: 81,915,830 (GRCm39) |
P218L |
probably damaging |
Het |
Atad1 |
T |
C |
19: 32,664,671 (GRCm39) |
M248V |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,769,915 (GRCm39) |
D522G |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,977,810 (GRCm39) |
S1168L |
probably benign |
Het |
Camkk1 |
A |
G |
11: 72,928,381 (GRCm39) |
D261G |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,421,941 (GRCm39) |
S930P |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Crim1 |
A |
T |
17: 78,620,695 (GRCm39) |
R378S |
possibly damaging |
Het |
Dcun1d4 |
T |
C |
5: 73,680,025 (GRCm39) |
|
probably null |
Het |
Dhdds |
A |
G |
4: 133,707,523 (GRCm39) |
V187A |
probably benign |
Het |
Ecpas |
C |
T |
4: 58,836,172 (GRCm39) |
E723K |
possibly damaging |
Het |
Egfem1 |
A |
G |
3: 29,704,936 (GRCm39) |
E251G |
possibly damaging |
Het |
Ehhadh |
T |
C |
16: 21,582,094 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
G |
5: 110,815,990 (GRCm39) |
V2724A |
probably damaging |
Het |
Epb41l4a |
T |
A |
18: 33,931,853 (GRCm39) |
T581S |
probably damaging |
Het |
Erg |
C |
T |
16: 95,260,102 (GRCm39) |
M1I |
probably null |
Het |
Fastkd1 |
T |
C |
2: 69,542,532 (GRCm39) |
T92A |
probably benign |
Het |
Gabpb1 |
T |
C |
2: 126,494,277 (GRCm39) |
H116R |
possibly damaging |
Het |
Gucy2c |
A |
G |
6: 136,740,041 (GRCm39) |
L262P |
possibly damaging |
Het |
Ifi203 |
C |
T |
1: 173,756,274 (GRCm39) |
|
probably benign |
Het |
Kcnk13 |
A |
C |
12: 100,027,548 (GRCm39) |
I208L |
probably benign |
Het |
Klhl7 |
A |
G |
5: 24,364,615 (GRCm39) |
T550A |
probably benign |
Het |
Krtap12-1 |
G |
T |
10: 77,556,799 (GRCm39) |
C114F |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,474,234 (GRCm39) |
T1650A |
probably benign |
Het |
Myo19 |
T |
A |
11: 84,776,098 (GRCm39) |
|
probably null |
Het |
Nav1 |
C |
T |
1: 135,377,701 (GRCm39) |
W1656* |
probably null |
Het |
Nup188 |
A |
T |
2: 30,220,647 (GRCm39) |
S907C |
probably damaging |
Het |
Oplah |
A |
T |
15: 76,190,759 (GRCm39) |
H125Q |
probably benign |
Het |
Or6d12 |
T |
A |
6: 116,493,513 (GRCm39) |
Y258* |
probably null |
Het |
Pcnx1 |
A |
T |
12: 81,965,803 (GRCm39) |
T657S |
probably benign |
Het |
Phf14 |
C |
A |
6: 11,997,119 (GRCm39) |
Q796K |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,457,874 (GRCm39) |
I699V |
probably benign |
Het |
Prex2 |
C |
A |
1: 11,336,314 (GRCm39) |
S1504* |
probably null |
Het |
Prpf18 |
G |
A |
2: 4,650,481 (GRCm39) |
Q50* |
probably null |
Het |
Rnf213 |
A |
G |
11: 119,349,692 (GRCm39) |
Y3851C |
possibly damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,386,733 (GRCm39) |
D726G |
probably damaging |
Het |
Sacm1l |
T |
C |
9: 123,415,485 (GRCm39) |
S487P |
probably damaging |
Het |
Setdb1 |
G |
T |
3: 95,234,881 (GRCm39) |
R941S |
probably damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Smg8 |
G |
A |
11: 86,971,137 (GRCm39) |
S878L |
possibly damaging |
Het |
Trpc4 |
T |
A |
3: 54,187,368 (GRCm39) |
V440E |
probably damaging |
Het |
Tsen15 |
A |
G |
1: 152,247,624 (GRCm39) |
S123P |
probably damaging |
Het |
Tspan12 |
G |
T |
6: 21,835,466 (GRCm39) |
A69D |
probably damaging |
Het |
Ubiad1 |
G |
A |
4: 148,520,955 (GRCm39) |
T223M |
probably damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,741 (GRCm39) |
K90* |
probably null |
Het |
Wdr19 |
C |
T |
5: 65,382,752 (GRCm39) |
T492I |
probably damaging |
Het |
Zfp423 |
C |
T |
8: 88,508,305 (GRCm39) |
D659N |
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 |
|
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 |
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 |
PCR Primer
(F):5'- AGTCTGAACCTGTTTGGCTG -3'
(R):5'- CAGAAGTCCACATTCTTGCCC -3'
Sequencing Primer
(F):5'- TGTGCCAGCGGAACTCTG -3'
(R):5'- CTGCTCTAGTTCCATGTACACCTG -3'
|
Posted On |
2016-07-22 |