Incidental Mutation 'IGL01124:Cactin'
| ID |
52134 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cactin
|
| Ensembl Gene |
ENSMUSG00000034889 |
| Gene Name |
cactin, spliceosome C complex subunit |
| Synonyms |
2510012J08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
IGL01124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81156937-81162076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81160184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 426
(S426P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059533
(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 |
possibly damaging
Transcript: ENSMUST00000050867
AA Change: S426P
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889
AA Change: S426P
| 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 |
possibly damaging
Transcript: ENSMUST00000218120
AA Change: S112P
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220312
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
T |
C |
10: 50,608,569 (GRCm39) |
I1477T |
probably damaging |
Het |
| Baat |
A |
G |
4: 49,490,391 (GRCm39) |
I231T |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,110,999 (GRCm39) |
F6I |
probably benign |
Het |
| Clec4a2 |
C |
T |
6: 123,116,037 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,611,129 (GRCm39) |
S148P |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,482,904 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,081,954 (GRCm39) |
|
probably benign |
Het |
| Dennd4b |
A |
T |
3: 90,176,381 (GRCm39) |
T243S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,663,394 (GRCm39) |
G518D |
probably damaging |
Het |
| Fmo3 |
G |
A |
1: 162,785,830 (GRCm39) |
R387C |
probably damaging |
Het |
| Foxo6 |
T |
C |
4: 120,126,349 (GRCm39) |
T149A |
probably benign |
Het |
| Fthl17d |
T |
C |
X: 8,852,827 (GRCm39) |
E3G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,724,010 (GRCm39) |
Y107C |
unknown |
Het |
| Ipo8 |
T |
A |
6: 148,678,874 (GRCm39) |
E908V |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,217,216 (GRCm39) |
S307P |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,974,123 (GRCm39) |
M3V |
possibly damaging |
Het |
| Ldb3 |
T |
A |
14: 34,266,157 (GRCm39) |
E417D |
probably damaging |
Het |
| Lrch1 |
A |
T |
14: 74,994,503 (GRCm39) |
D673E |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,474,087 (GRCm39) |
K865E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,589,104 (GRCm39) |
V754I |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,692,219 (GRCm39) |
N223D |
probably benign |
Het |
| Nell2 |
G |
A |
15: 95,194,060 (GRCm39) |
T551M |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,183,163 (GRCm39) |
M1241K |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,393,020 (GRCm39) |
S121T |
possibly damaging |
Het |
| Or5i1 |
T |
C |
2: 87,613,720 (GRCm39) |
F279L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,445,984 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
C |
5: 14,764,343 (GRCm39) |
I4272T |
unknown |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,344 (GRCm39) |
|
probably benign |
Het |
| Prcp |
A |
G |
7: 92,559,416 (GRCm39) |
E160G |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,343,090 (GRCm39) |
R92Q |
possibly damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,500,347 (GRCm39) |
M106K |
possibly damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,869,749 (GRCm39) |
|
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,295 (GRCm39) |
Y626H |
probably damaging |
Het |
| Smtn |
A |
G |
11: 3,476,326 (GRCm39) |
|
probably null |
Het |
| Snx30 |
T |
C |
4: 59,886,404 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,967,209 (GRCm39) |
D393G |
unknown |
Het |
| Trem3 |
T |
G |
17: 48,556,829 (GRCm39) |
L100R |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,781,659 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,386 (GRCm39) |
M901V |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,948,513 (GRCm39) |
S873T |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,856 (GRCm39) |
I7V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,338,959 (GRCm39) |
L400P |
probably damaging |
Het |
|
| Other mutations in Cactin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation