Incidental Mutation 'R0537:Ccdc33'
| ID |
49506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
038729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58024737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 163
(Y163C)
|
| 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 |
probably damaging
Transcript: ENSMUST00000098681
AA Change: Y163C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098682
AA Change: Y163C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: Y163C
| 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 |
probably damaging
Transcript: ENSMUST00000215944
AA Change: Y163C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.2011 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
T |
14: 35,818,657 (GRCm39) |
K218N |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,619,652 (GRCm39) |
E156G |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,094,224 (GRCm39) |
N973K |
probably damaging |
Het |
| B4galt3 |
T |
C |
1: 171,101,821 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
T |
C |
14: 34,165,769 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
T |
17: 85,702,087 (GRCm39) |
I184F |
probably benign |
Het |
| Ccdc9 |
A |
G |
7: 16,014,701 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
T |
1: 160,888,318 (GRCm39) |
C201S |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,312,767 (GRCm39) |
S194R |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,148,941 (GRCm39) |
D1473G |
probably benign |
Het |
| Dpm2 |
T |
A |
2: 32,462,961 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
C |
18: 20,591,628 (GRCm39) |
S456P |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,089,425 (GRCm39) |
S195P |
probably damaging |
Het |
| Heatr6 |
G |
T |
11: 83,670,290 (GRCm39) |
E948* |
probably null |
Het |
| Itgal |
G |
A |
7: 126,910,445 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,103 (GRCm39) |
T172S |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,840,604 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,975,562 (GRCm39) |
F121S |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,622,817 (GRCm39) |
R1966W |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,256 (GRCm39) |
F247L |
possibly damaging |
Het |
| Nebl |
G |
T |
2: 17,409,026 (GRCm39) |
D392E |
possibly damaging |
Het |
| Notch2 |
C |
A |
3: 98,024,057 (GRCm39) |
N840K |
possibly damaging |
Het |
| Nubp1 |
T |
C |
16: 10,240,678 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,577,017 (GRCm39) |
Q159L |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,444 (GRCm39) |
S167P |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,897 (GRCm39) |
S455T |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,184,516 (GRCm39) |
E828G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rala |
A |
T |
13: 18,063,233 (GRCm39) |
N119K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,975,362 (GRCm39) |
V1149E |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,715,501 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rps18-ps6 |
A |
T |
13: 97,897,071 (GRCm39) |
F9Y |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,431,752 (GRCm39) |
D635E |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,116 (GRCm39) |
T335A |
possibly damaging |
Het |
| Slc11a2 |
C |
T |
15: 100,303,679 (GRCm39) |
G185R |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,967 (GRCm39) |
R274H |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,032,618 (GRCm39) |
V2276A |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Tmem168 |
C |
A |
6: 13,603,360 (GRCm39) |
C2F |
probably damaging |
Het |
| Tmem80 |
A |
G |
7: 140,913,609 (GRCm39) |
Y13C |
probably damaging |
Het |
| Try4 |
T |
A |
6: 41,281,296 (GRCm39) |
N79K |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,225,318 (GRCm39) |
N798K |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,813 (GRCm39) |
|
probably benign |
Het |
| Zfp30 |
A |
T |
7: 29,492,160 (GRCm39) |
E138V |
probably damaging |
Het |
| Zfp366 |
A |
C |
13: 99,365,786 (GRCm39) |
T316P |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,883,621 (GRCm39) |
H162R |
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 |
|
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 |
|
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'- TGCAGACAGCCAGTTTCATCAAAGG -3'
(R):5'- TTTAAAGCCATGTTCTCCACCCAGG -3'
Sequencing Primer
(F):5'- TCAAAGGCTGTGTCCTGAAC -3'
(R):5'- AGGGTTCTGTAAGAATGATGGGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation