Incidental Mutation 'R5534:Ccdc33'
| ID |
434713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
043092-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5534 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58024450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 226
(S226P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098681]
[ENSMUST00000098682]
[ENSMUST00000128021]
[ENSMUST00000136154]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098681
AA Change: S226P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098682
AA Change: S226P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: S226P
| 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: ENSMUST00000128021
|
| SMART Domains |
Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
87 |
8.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131007
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000145886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146741
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215944
AA Change: S226P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
A |
8: 25,155,530 (GRCm39) |
D163V |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,740,947 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,814,442 (GRCm39) |
E355G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,232,491 (GRCm39) |
N172S |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,510,231 (GRCm39) |
M712T |
probably damaging |
Het |
| Apcdd1 |
T |
C |
18: 63,070,105 (GRCm39) |
I124T |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,347 (GRCm39) |
K256R |
probably damaging |
Het |
| Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,888,241 (GRCm39) |
V508A |
probably benign |
Het |
| Cep72 |
T |
C |
13: 74,210,335 (GRCm39) |
E9G |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,621,227 (GRCm39) |
Y616N |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,054,939 (GRCm39) |
S117P |
possibly damaging |
Het |
| Col11a2 |
C |
T |
17: 34,269,998 (GRCm39) |
A429V |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,465,238 (GRCm39) |
E979G |
unknown |
Het |
| Coq10b |
T |
C |
1: 55,103,359 (GRCm39) |
Y46H |
possibly damaging |
Het |
| Cplane1 |
C |
A |
15: 8,258,319 (GRCm39) |
F2188L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,943,596 (GRCm39) |
T3169A |
possibly damaging |
Het |
| Dock6 |
G |
A |
9: 21,714,372 (GRCm39) |
R1824* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,379,818 (GRCm39) |
I1589L |
probably benign |
Het |
| Edil3 |
A |
G |
13: 89,347,593 (GRCm39) |
T383A |
probably benign |
Het |
| Efemp1 |
T |
C |
11: 28,817,758 (GRCm39) |
V79A |
probably damaging |
Het |
| Esyt1 |
C |
T |
10: 128,355,329 (GRCm39) |
V471I |
probably benign |
Het |
| Fbxo30 |
T |
C |
10: 11,165,409 (GRCm39) |
S44P |
possibly damaging |
Het |
| Fdx2 |
G |
T |
9: 20,984,562 (GRCm39) |
D57E |
probably benign |
Het |
| Gbp11 |
A |
T |
5: 105,478,904 (GRCm39) |
V178D |
probably damaging |
Het |
| Gna11 |
A |
T |
10: 81,366,967 (GRCm39) |
I283N |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 63,480,345 (GRCm39) |
Q53L |
probably benign |
Het |
| Jmjd6 |
A |
G |
11: 116,731,252 (GRCm39) |
S266P |
probably damaging |
Het |
| Kirrel1 |
G |
A |
3: 86,997,825 (GRCm39) |
R233C |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,735,238 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,686,267 (GRCm39) |
T1171S |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,210,191 (GRCm39) |
S650R |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
| Mgat1 |
T |
C |
11: 49,151,976 (GRCm39) |
V153A |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,110,452 (GRCm39) |
D416V |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,987,870 (GRCm39) |
R1448W |
probably damaging |
Het |
| Nedd1 |
A |
T |
10: 92,530,894 (GRCm39) |
F398L |
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,567 (GRCm39) |
I109M |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,349 (GRCm39) |
T147A |
probably benign |
Het |
| Or5ac17 |
T |
C |
16: 59,036,403 (GRCm39) |
D191G |
probably benign |
Het |
| Or5g9 |
T |
C |
2: 85,552,331 (GRCm39) |
I194T |
probably benign |
Het |
| Otud3 |
A |
G |
4: 138,624,894 (GRCm39) |
L269P |
probably damaging |
Het |
| Otx1 |
A |
G |
11: 21,946,296 (GRCm39) |
|
probably benign |
Het |
| Pcdhga7 |
A |
C |
18: 37,849,331 (GRCm39) |
D446A |
probably damaging |
Het |
| Pcnx2 |
T |
G |
8: 126,564,754 (GRCm39) |
K1046N |
possibly damaging |
Het |
| Pfkp |
C |
A |
13: 6,698,619 (GRCm39) |
G33W |
probably damaging |
Het |
| Poglut2 |
C |
T |
1: 44,151,837 (GRCm39) |
V351M |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,188,043 (GRCm39) |
I585T |
probably damaging |
Het |
| Pole4 |
A |
G |
6: 82,629,115 (GRCm39) |
Y84H |
possibly damaging |
Het |
| Pramel26 |
G |
T |
4: 143,539,169 (GRCm39) |
S108* |
probably null |
Het |
| Ptpn23 |
A |
G |
9: 110,221,809 (GRCm39) |
S126P |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rin3 |
T |
C |
12: 102,353,891 (GRCm39) |
L766P |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rras2 |
G |
A |
7: 113,649,650 (GRCm39) |
T138I |
possibly damaging |
Het |
| Scrn2 |
A |
G |
11: 96,921,751 (GRCm39) |
I74V |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,501,735 (GRCm39) |
I526T |
possibly damaging |
Het |
| Shd |
G |
T |
17: 56,278,577 (GRCm39) |
E47* |
probably null |
Het |
| Slc22a27 |
T |
C |
19: 7,903,996 (GRCm39) |
H47R |
probably damaging |
Het |
| Slc36a3 |
C |
G |
11: 55,033,595 (GRCm39) |
W141S |
possibly damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,376,977 (GRCm39) |
V429E |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,976,296 (GRCm39) |
D428E |
probably benign |
Het |
| Snrpe |
A |
T |
1: 133,534,211 (GRCm39) |
F84Y |
probably benign |
Het |
| Tbc1d2b |
C |
T |
9: 90,109,559 (GRCm39) |
D306N |
possibly damaging |
Het |
| Trav9n-4 |
A |
G |
14: 53,532,356 (GRCm39) |
Y70C |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,936,367 (GRCm39) |
F843L |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,870,847 (GRCm39) |
I330T |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,488,349 (GRCm39) |
L12P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,436,713 (GRCm39) |
S2047P |
unknown |
Het |
| Zfp763 |
A |
C |
17: 33,240,768 (GRCm39) |
S20R |
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 |
|
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 |
|
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'- CGTGGAACCTAGAATCCTGAG -3'
(R):5'- CTCAGACTGTCAACTGGAACC -3'
Sequencing Primer
(F):5'- GTGCAATGAACTACTGCTTGC -3'
(R):5'- TGGAACCCAGCCAACCAGAG -3'
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| Posted On |
2016-10-24 |
Incidental Mutation