Incidental Mutation 'R9139:Ccdc33'
| ID |
694221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9139 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 57983842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 452
(I452M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000128021]
[ENSMUST00000136154]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042205
AA Change: I243M
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: I243M
| 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
AA Change: I452M
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: I452M
| 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
AA Change: I243M
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: I243M
| 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 |
probably benign
Transcript: ENSMUST00000128021
|
| SMART Domains |
Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
87 |
8.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136154
|
| SMART Domains |
Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
199 |
1.7e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215944
AA Change: I452M
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,320,705 (GRCm39) |
V288A |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,711,810 (GRCm39) |
S135R |
|
Het |
| Axl |
G |
A |
7: 25,460,846 (GRCm39) |
T721I |
probably damaging |
Het |
| Blnk |
G |
A |
19: 40,922,962 (GRCm39) |
A388V |
probably benign |
Het |
| C8b |
T |
C |
4: 104,641,631 (GRCm39) |
V189A |
probably damaging |
Het |
| Cfap57 |
T |
C |
4: 118,412,048 (GRCm39) |
T1199A |
probably benign |
Het |
| Chga |
G |
A |
12: 102,528,144 (GRCm39) |
V212M |
probably benign |
Het |
| Cspp1 |
T |
A |
1: 10,186,875 (GRCm39) |
M887K |
probably damaging |
Het |
| Cyp3a16 |
G |
C |
5: 145,406,434 (GRCm39) |
A6G |
unknown |
Het |
| Cyp4f17 |
G |
T |
17: 32,743,868 (GRCm39) |
E349* |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,085,039 (GRCm39) |
D791E |
probably benign |
Het |
| Dpysl5 |
T |
C |
5: 30,935,397 (GRCm39) |
Y167H |
probably benign |
Het |
| Dqx1 |
G |
T |
6: 83,036,759 (GRCm39) |
Q254H |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,955,383 (GRCm39) |
T411A |
probably benign |
Het |
| Fancl |
C |
A |
11: 26,337,231 (GRCm39) |
A6E |
probably benign |
Het |
| Gabrr3 |
A |
G |
16: 59,227,830 (GRCm39) |
Q29R |
probably benign |
Het |
| Gtf2h2 |
A |
C |
13: 100,617,778 (GRCm39) |
L168R |
probably damaging |
Het |
| Hacl1 |
T |
A |
14: 31,338,338 (GRCm39) |
Q413L |
probably benign |
Het |
| Hdc |
A |
T |
2: 126,439,837 (GRCm39) |
V372E |
probably damaging |
Het |
| Hr |
A |
T |
14: 70,795,079 (GRCm39) |
H208L |
possibly damaging |
Het |
| Htr6 |
T |
C |
4: 138,789,501 (GRCm39) |
R255G |
possibly damaging |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,681,370 (GRCm39) |
V747A |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,620,291 (GRCm39) |
T508A |
probably benign |
Het |
| Klhdc8b |
A |
G |
9: 108,326,927 (GRCm39) |
V145A |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,754,924 (GRCm39) |
V73D |
probably damaging |
Het |
| Ksr1 |
T |
A |
11: 78,911,572 (GRCm39) |
M737L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,328,564 (GRCm39) |
Y4723C |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,397 (GRCm39) |
Y182C |
probably damaging |
Het |
| Mtf2 |
T |
C |
5: 108,252,398 (GRCm39) |
|
probably null |
Het |
| Nrxn2 |
A |
T |
19: 6,498,299 (GRCm39) |
T255S |
probably benign |
Het |
| Or10v9 |
A |
G |
19: 11,832,666 (GRCm39) |
L217P |
probably damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,649 (GRCm39) |
T5S |
probably damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,707 (GRCm39) |
L264P |
probably damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,999 (GRCm39) |
T259S |
possibly damaging |
Het |
| Or52k2 |
T |
A |
7: 102,254,185 (GRCm39) |
I208N |
probably damaging |
Het |
| Or9m1 |
A |
T |
2: 87,733,108 (GRCm39) |
M304K |
probably benign |
Het |
| Pamr1 |
T |
A |
2: 102,464,766 (GRCm39) |
V305E |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
T |
6: 4,757,128 (GRCm39) |
T568M |
unknown |
Het |
| Polr3a |
A |
G |
14: 24,519,416 (GRCm39) |
F664S |
probably damaging |
Het |
| Prb1a |
T |
A |
6: 132,185,306 (GRCm39) |
N109I |
unknown |
Het |
| Prdm2 |
T |
C |
4: 142,858,752 (GRCm39) |
I1513V |
probably benign |
Het |
| Prkd3 |
A |
C |
17: 79,269,969 (GRCm39) |
V564G |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,192,513 (GRCm39) |
S151P |
probably damaging |
Het |
| Rnf150 |
C |
T |
8: 83,590,588 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,038,261 (GRCm39) |
T786A |
probably benign |
Het |
| Scin |
A |
G |
12: 40,113,236 (GRCm39) |
V645A |
possibly damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,557,398 (GRCm39) |
M177K |
probably benign |
Het |
| Slc2a6 |
G |
A |
2: 26,914,334 (GRCm39) |
S261L |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,796,115 (GRCm38) |
D1118V |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,709 (GRCm39) |
W351R |
probably damaging |
Het |
| Sp8 |
G |
A |
12: 118,812,174 (GRCm39) |
G10S |
probably damaging |
Het |
| St8sia2 |
A |
G |
7: 73,616,513 (GRCm39) |
I175T |
probably damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,779 (GRCm39) |
N38I |
probably benign |
Het |
| Trim31 |
C |
T |
17: 37,209,382 (GRCm39) |
T46M |
possibly damaging |
Het |
| Trim31 |
A |
G |
17: 37,220,145 (GRCm39) |
K354E |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,922 (GRCm39) |
Q2260* |
probably null |
Het |
| Trpm1 |
T |
C |
7: 63,848,943 (GRCm39) |
I63T |
probably benign |
Het |
| Ugt2b37 |
T |
C |
5: 87,399,636 (GRCm39) |
K291E |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,627,162 (GRCm39) |
T499A |
probably benign |
Het |
| Vmn1r35 |
T |
C |
6: 66,655,933 (GRCm39) |
I246V |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,277 (GRCm39) |
S186P |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,879,170 (GRCm39) |
M377L |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,878,637 (GRCm39) |
M1243R |
possibly 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 |
|
R5844:Ccdc33
|
UTSW |
9 |
57,940,489 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- GCTCTGATAGTCTCTGCTGG -3'
(R):5'- TAAGTGTGAGTCCCAGCTGTC -3'
Sequencing Primer
(F):5'- AAATGTTTAGTATCTCTGGGAGCCC -3'
(R):5'- CTGTCAGAGTGGCCATGAGTCAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation