Incidental Mutation 'R3401:Cactin'
ID |
259195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cactin
|
Ensembl Gene |
ENSMUSG00000034889 |
Gene Name |
cactin, spliceosome C complex subunit |
Synonyms |
2510012J08Rik |
MMRRC Submission |
040620-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.580)
|
Stock # |
R3401 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81156937-81162076 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 81161709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 747
(R747H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050867]
[ENSMUST00000105325]
[ENSMUST00000218120]
[ENSMUST00000220312]
|
AlphaFold |
Q9CS00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050867
AA Change: R747H
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000059533 Gene: ENSMUSG00000034889 AA Change: R747H
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: ENSMUST00000218120
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219285
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220312
|
Meta Mutation Damage Score |
0.5062 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (30/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B3gat1 |
C |
A |
9: 26,667,149 (GRCm39) |
T127K |
probably damaging |
Het |
Cul5 |
A |
T |
9: 53,532,512 (GRCm39) |
M747K |
probably benign |
Het |
Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
Eif1ad |
T |
C |
19: 5,418,276 (GRCm39) |
V20A |
probably benign |
Het |
Faim2 |
C |
T |
15: 99,418,229 (GRCm39) |
V119I |
probably damaging |
Het |
Fli1 |
G |
A |
9: 32,372,570 (GRCm39) |
S156L |
probably damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,635,154 (GRCm39) |
D399E |
probably benign |
Het |
Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
Htr2a |
T |
C |
14: 74,882,499 (GRCm39) |
S162P |
probably damaging |
Het |
Naip5 |
G |
A |
13: 100,358,411 (GRCm39) |
Q942* |
probably null |
Het |
Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,628,193 (GRCm39) |
I422M |
possibly damaging |
Het |
Polr3b |
C |
T |
10: 84,535,355 (GRCm39) |
T888M |
probably damaging |
Het |
Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,705,922 (GRCm39) |
T2323A |
possibly damaging |
Het |
Sntg2 |
A |
G |
12: 30,338,171 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
G |
2: 120,534,170 (GRCm39) |
I3476V |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,873,097 (GRCm39) |
|
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,901,707 (GRCm39) |
M334T |
probably benign |
Het |
Uprt |
A |
G |
X: 103,549,864 (GRCm39) |
D310G |
probably damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Zfp157 |
T |
A |
5: 138,455,273 (GRCm39) |
N490K |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
probably benign |
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 |
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 |
PCR Primer
(F):5'- GCATTATGACTTCGACAACCC -3'
(R):5'- CCACAGATTCCTACGGCTTCTG -3'
Sequencing Primer
(F):5'- TGTGCAGGGCTACAAATTCAAC -3'
(R):5'- CAGATTCCTACGGCTTCTGAAGGAG -3'
|
Posted On |
2015-01-23 |