Incidental Mutation 'R5844:Ccdc33'
| ID |
450601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
044062-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 57940489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042205
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
36 |
140 |
5.79e-3 |
SMART |
|
coiled coil region
|
413 |
451 |
N/A |
INTRINSIC |
|
coiled coil region
|
472 |
560 |
N/A |
INTRINSIC |
|
coiled coil region
|
630 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098682
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
281 |
385 |
5.79e-3 |
SMART |
|
coiled coil region
|
598 |
636 |
N/A |
INTRINSIC |
|
coiled coil region
|
657 |
745 |
N/A |
INTRINSIC |
|
coiled coil region
|
884 |
922 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119665
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
36 |
140 |
5.79e-3 |
SMART |
|
coiled coil region
|
413 |
559 |
N/A |
INTRINSIC |
|
coiled coil region
|
629 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215944
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,950,065 (GRCm39) |
M1321L |
probably benign |
Het |
| Adra1a |
C |
T |
14: 66,965,183 (GRCm39) |
T391I |
probably benign |
Het |
| Atf7ip |
C |
A |
6: 136,583,812 (GRCm39) |
A1281D |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,866,023 (GRCm39) |
N141S |
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,397,257 (GRCm39) |
L1082Q |
possibly damaging |
Het |
| Cavin2 |
C |
T |
1: 51,328,998 (GRCm39) |
R152C |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,784,135 (GRCm39) |
D466G |
probably benign |
Het |
| Cfap46 |
C |
A |
7: 139,230,858 (GRCm39) |
M923I |
probably damaging |
Het |
| Chd1l |
T |
A |
3: 97,479,883 (GRCm39) |
K621N |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,955,575 (GRCm39) |
|
probably benign |
Het |
| Cym |
T |
C |
3: 107,127,080 (GRCm39) |
H25R |
probably benign |
Het |
| Dagla |
T |
A |
19: 10,248,489 (GRCm39) |
D57V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
A |
10: 34,029,038 (GRCm39) |
D684V |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,058,760 (GRCm39) |
S326T |
probably benign |
Het |
| Galntl5 |
G |
T |
5: 25,391,091 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,453,232 (GRCm39) |
R290G |
possibly damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,945,199 (GRCm39) |
T425A |
probably benign |
Het |
| Hepacam2 |
A |
G |
6: 3,476,073 (GRCm39) |
I284T |
probably damaging |
Het |
| Ifi205 |
A |
C |
1: 173,854,258 (GRCm39) |
|
probably null |
Het |
| Irs3 |
T |
C |
5: 137,642,548 (GRCm39) |
T297A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,039,036 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,697,542 (GRCm39) |
S782G |
probably benign |
Het |
| Mis18a |
G |
A |
16: 90,523,969 (GRCm39) |
|
silent |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,181,182 (GRCm39) |
|
probably null |
Het |
| Ntaq1 |
A |
G |
15: 58,017,056 (GRCm39) |
N157S |
probably benign |
Het |
| Or13a1 |
A |
T |
6: 116,470,900 (GRCm39) |
E110V |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,239 (GRCm39) |
V142A |
probably benign |
Het |
| Pde3b |
C |
T |
7: 114,108,106 (GRCm39) |
T568I |
probably benign |
Het |
| Pip4p1 |
T |
C |
14: 51,166,499 (GRCm39) |
T160A |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,451,685 (GRCm39) |
D2203E |
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,473,566 (GRCm39) |
K66E |
possibly damaging |
Het |
| Rfc1 |
C |
A |
5: 65,451,130 (GRCm39) |
M319I |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Runx1t1 |
T |
C |
4: 13,881,068 (GRCm39) |
V456A |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,966,589 (GRCm39) |
K109R |
probably benign |
Het |
| Sgo2a |
T |
G |
1: 58,055,556 (GRCm39) |
V580G |
probably damaging |
Het |
| Skint9 |
T |
C |
4: 112,271,080 (GRCm39) |
Q110R |
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,868,035 (GRCm39) |
Y507C |
probably damaging |
Het |
| Smarca4 |
T |
A |
9: 21,589,238 (GRCm39) |
|
probably benign |
Het |
| Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,384,580 (GRCm39) |
F1413V |
probably damaging |
Het |
| Trpm8 |
T |
C |
1: 88,312,433 (GRCm39) |
*1105Q |
probably null |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
| Zim1 |
T |
C |
7: 6,681,115 (GRCm39) |
R183G |
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,657,354 (GRCm39) |
S871P |
probably damaging |
Het |
|
| Other mutations in Ccdc33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Ccdc33
|
APN |
9 |
57,977,257 (GRCm39) |
splice site |
probably benign |
|
|
IGL01403:Ccdc33
|
APN |
9 |
58,024,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Ccdc33
|
APN |
9 |
58,024,919 (GRCm39) |
splice site |
probably benign |
|
|
IGL01714:Ccdc33
|
APN |
9 |
57,937,153 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02028:Ccdc33
|
APN |
9 |
57,983,861 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02158:Ccdc33
|
APN |
9 |
57,937,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02174:Ccdc33
|
APN |
9 |
57,940,938 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02805:Ccdc33
|
APN |
9 |
58,005,874 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0276:Ccdc33
|
UTSW |
9 |
57,965,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0537:Ccdc33
|
UTSW |
9 |
58,024,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Ccdc33
|
UTSW |
9 |
57,989,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0789:Ccdc33
|
UTSW |
9 |
58,024,497 (GRCm39) |
splice site |
probably benign |
|
|
R0791:Ccdc33
|
UTSW |
9 |
57,936,046 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0920:Ccdc33
|
UTSW |
9 |
57,940,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1541:Ccdc33
|
UTSW |
9 |
58,024,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1759:Ccdc33
|
UTSW |
9 |
58,024,729 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1857:Ccdc33
|
UTSW |
9 |
57,939,991 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1976:Ccdc33
|
UTSW |
9 |
58,024,445 (GRCm39) |
nonsense |
probably null |
|
|
R1982:Ccdc33
|
UTSW |
9 |
58,024,451 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2044:Ccdc33
|
UTSW |
9 |
57,938,395 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2224:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2227:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2369:Ccdc33
|
UTSW |
9 |
57,983,913 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3899:Ccdc33
|
UTSW |
9 |
57,940,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4468:Ccdc33
|
UTSW |
9 |
57,977,155 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4468:Ccdc33
|
UTSW |
9 |
57,937,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4703:Ccdc33
|
UTSW |
9 |
57,940,953 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4705:Ccdc33
|
UTSW |
9 |
58,024,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4790:Ccdc33
|
UTSW |
9 |
57,937,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4817:Ccdc33
|
UTSW |
9 |
57,974,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4879:Ccdc33
|
UTSW |
9 |
57,974,839 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4931:Ccdc33
|
UTSW |
9 |
57,977,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Ccdc33
|
UTSW |
9 |
58,025,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Ccdc33
|
UTSW |
9 |
57,940,267 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5327:Ccdc33
|
UTSW |
9 |
57,993,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5528:Ccdc33
|
UTSW |
9 |
57,936,078 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5534:Ccdc33
|
UTSW |
9 |
58,024,450 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5786:Ccdc33
|
UTSW |
9 |
57,937,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5975:Ccdc33
|
UTSW |
9 |
58,024,761 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6120:Ccdc33
|
UTSW |
9 |
57,993,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6256:Ccdc33
|
UTSW |
9 |
58,009,201 (GRCm39) |
splice site |
probably null |
|
|
R6363:Ccdc33
|
UTSW |
9 |
58,021,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6610:Ccdc33
|
UTSW |
9 |
57,976,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6767:Ccdc33
|
UTSW |
9 |
57,940,527 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7072:Ccdc33
|
UTSW |
9 |
58,019,267 (GRCm39) |
makesense |
probably null |
|
|
R7121:Ccdc33
|
UTSW |
9 |
57,988,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:Ccdc33
|
UTSW |
9 |
57,941,456 (GRCm39) |
splice site |
probably null |
|
|
R7239:Ccdc33
|
UTSW |
9 |
57,940,192 (GRCm39) |
nonsense |
probably null |
|
|
R7655:Ccdc33
|
UTSW |
9 |
58,025,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7656:Ccdc33
|
UTSW |
9 |
58,025,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7868:Ccdc33
|
UTSW |
9 |
57,976,374 (GRCm39) |
missense |
probably benign |
|
|
R8215:Ccdc33
|
UTSW |
9 |
57,939,995 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9139:Ccdc33
|
UTSW |
9 |
57,983,842 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9204:Ccdc33
|
UTSW |
9 |
57,938,388 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9280:Ccdc33
|
UTSW |
9 |
57,965,549 (GRCm39) |
missense |
probably benign |
|
|
R9297:Ccdc33
|
UTSW |
9 |
57,993,876 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9318:Ccdc33
|
UTSW |
9 |
57,993,876 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9361:Ccdc33
|
UTSW |
9 |
58,024,908 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9664:Ccdc33
|
UTSW |
9 |
57,993,855 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
RF003:Ccdc33
|
UTSW |
9 |
57,965,574 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1176:Ccdc33
|
UTSW |
9 |
58,024,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ccdc33
|
UTSW |
9 |
58,025,868 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTCTTCTGCAGGGTGGAG -3'
(R):5'- AGAAAATCCTGGGCCAAGC -3'
Sequencing Primer
(F):5'- CAATGGGTACATGAGAGTTCCCC -3'
(R):5'- CAAGCCCTAGAGCTGAGGTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation