Incidental Mutation 'R3402:Cactin'
| ID |
259234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cactin
|
| Ensembl Gene |
ENSMUSG00000034889 |
| Gene Name |
cactin, spliceosome C complex subunit |
| Synonyms |
2510012J08Rik |
| MMRRC Submission |
040621-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R3402 (G1)
|
| Quality Score |
225 |
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
A |
T |
5: 89,849,592 (GRCm39) |
F609L |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,691,661 (GRCm39) |
N1642S |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
| Ark2c |
A |
G |
18: 77,652,782 (GRCm39) |
V6A |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,551,229 (GRCm39) |
E2129G |
probably damaging |
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 |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
T |
2: 20,786,693 (GRCm39) |
H763L |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Ift25 |
A |
G |
4: 107,130,803 (GRCm39) |
|
probably null |
Het |
| Kat2b |
C |
T |
17: 53,972,881 (GRCm39) |
P732S |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,434,719 (GRCm39) |
N387S |
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,895 (GRCm39) |
I17V |
probably benign |
Het |
| Or5b120 |
G |
A |
19: 13,480,312 (GRCm39) |
A202T |
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,396,859 (GRCm39) |
R926W |
probably damaging |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,288,660 (GRCm39) |
T538A |
possibly damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,082,958 (GRCm39) |
Y560F |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,440,763 (GRCm39) |
Y1212H |
probably damaging |
Het |
| Stk3 |
G |
T |
15: 34,945,144 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,787 (GRCm39) |
S322G |
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 |
| Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
| Upk3a |
T |
C |
15: 84,902,384 (GRCm39) |
|
probably null |
Het |
| Zfp180 |
G |
A |
7: 23,805,170 (GRCm39) |
V530I |
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 |
|
R3401: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'- GCATTATGACTTCGACAACCCTC -3'
(R):5'- CCACAGATTCCTACGGCTTCTG -3'
Sequencing Primer
(F):5'- TGTGCAGGGCTACAAATTCAAC -3'
(R):5'- CAGATTCCTACGGCTTCTGAAGGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation