Incidental Mutation 'R5015:Ccdc33'
| ID |
385507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
042606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5015 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 58025918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 37
(F37C)
|
| 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: F37C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098682
AA Change: F37C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: F37C
| 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: F37C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
T |
A |
8: 41,207,671 (GRCm39) |
F312L |
probably benign |
Het |
| Adprm |
A |
G |
11: 66,932,856 (GRCm39) |
F18L |
possibly damaging |
Het |
| Ampd1 |
T |
G |
3: 103,006,981 (GRCm39) |
N735K |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,081,649 (GRCm39) |
M168V |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,793,600 (GRCm39) |
H116Y |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,890,383 (GRCm39) |
N338K |
probably damaging |
Het |
| Bms1 |
A |
T |
6: 118,381,224 (GRCm39) |
Y697* |
probably null |
Het |
| Ccdc60 |
T |
A |
5: 116,426,507 (GRCm39) |
Q30L |
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,650,036 (GRCm39) |
R219L |
probably damaging |
Het |
| Cstdc4 |
T |
C |
16: 36,006,837 (GRCm39) |
|
probably null |
Het |
| Daam2 |
C |
A |
17: 49,783,550 (GRCm39) |
D627Y |
probably damaging |
Het |
| Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dnah2 |
T |
G |
11: 69,388,708 (GRCm39) |
T892P |
possibly damaging |
Het |
| Dqx1 |
A |
G |
6: 83,043,092 (GRCm39) |
T610A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,324,926 (GRCm39) |
I430L |
possibly damaging |
Het |
| Dytn |
T |
A |
1: 63,672,854 (GRCm39) |
K516N |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 52,993,773 (GRCm39) |
N389K |
possibly damaging |
Het |
| Fn1 |
G |
A |
1: 71,665,336 (GRCm39) |
T927I |
probably damaging |
Het |
| Foxn1 |
T |
C |
11: 78,261,989 (GRCm39) |
K127E |
probably damaging |
Het |
| Fpr-rs6 |
A |
G |
17: 20,402,608 (GRCm39) |
F251S |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,672,088 (GRCm39) |
D62G |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,148 (GRCm39) |
V301D |
probably damaging |
Het |
| Gk5 |
A |
G |
9: 96,059,470 (GRCm39) |
|
probably null |
Het |
| Glipr1l1 |
T |
A |
10: 111,914,279 (GRCm39) |
N213K |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,793,162 (GRCm39) |
F538S |
probably benign |
Het |
| Gm7347 |
T |
A |
5: 26,262,366 (GRCm39) |
T52S |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,427,406 (GRCm39) |
I178T |
probably damaging |
Het |
| H1f9 |
C |
A |
11: 94,858,928 (GRCm39) |
N74K |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 117,739,556 (GRCm39) |
Q106L |
unknown |
Het |
| Isg20l2 |
G |
T |
3: 87,839,288 (GRCm39) |
L166F |
possibly damaging |
Het |
| Kcnq3 |
T |
A |
15: 65,876,612 (GRCm39) |
E510D |
probably damaging |
Het |
| Kif26b |
G |
T |
1: 178,755,895 (GRCm39) |
R2003L |
probably damaging |
Het |
| Kiss1r |
T |
C |
10: 79,754,641 (GRCm39) |
V45A |
probably damaging |
Het |
| Krt14 |
G |
A |
11: 100,098,032 (GRCm39) |
R84* |
probably null |
Het |
| Mbd5 |
T |
C |
2: 49,148,208 (GRCm39) |
M806T |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,058,847 (GRCm39) |
I13N |
possibly damaging |
Het |
| Mfsd4b5 |
T |
C |
10: 39,850,758 (GRCm39) |
K73E |
probably benign |
Het |
| Mterf2 |
C |
T |
10: 84,955,596 (GRCm39) |
G343R |
probably benign |
Het |
| Mto1 |
T |
A |
9: 78,368,903 (GRCm39) |
F522I |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,937,923 (GRCm39) |
E1734G |
probably damaging |
Het |
| Myoz1 |
T |
C |
14: 20,703,787 (GRCm39) |
T53A |
probably benign |
Het |
| Naxd |
T |
C |
8: 11,563,032 (GRCm39) |
L324P |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,005,334 (GRCm39) |
V18D |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
| Or10v5 |
T |
C |
19: 11,805,482 (GRCm39) |
R303G |
probably benign |
Het |
| Or10z1 |
A |
G |
1: 174,078,448 (GRCm39) |
L15S |
possibly damaging |
Het |
| Or1e29 |
C |
G |
11: 73,668,007 (GRCm39) |
V49L |
probably benign |
Het |
| Or2j6 |
T |
C |
7: 139,980,083 (GRCm39) |
D292G |
probably damaging |
Het |
| Or52b1 |
A |
G |
7: 104,978,811 (GRCm39) |
V196A |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,540,238 (GRCm39) |
Y981F |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,670,597 (GRCm39) |
K7E |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,120,946 (GRCm39) |
S73P |
possibly damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,929,498 (GRCm39) |
I118N |
possibly damaging |
Het |
| Prcc |
T |
C |
3: 87,779,560 (GRCm39) |
D158G |
probably damaging |
Het |
| Ptpn7 |
C |
A |
1: 135,066,877 (GRCm39) |
R245S |
possibly damaging |
Het |
| Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,018,527 (GRCm39) |
C86R |
probably benign |
Het |
| Rfng |
T |
G |
11: 120,673,876 (GRCm39) |
D178A |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,580,090 (GRCm39) |
I51T |
probably damaging |
Het |
| Rnasel |
G |
T |
1: 153,629,843 (GRCm39) |
E120* |
probably null |
Het |
| Sall2 |
T |
G |
14: 52,553,112 (GRCm39) |
S26R |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,451,987 (GRCm39) |
V1312A |
possibly damaging |
Het |
| Sdk2 |
C |
A |
11: 113,684,587 (GRCm39) |
R1958L |
probably damaging |
Het |
| Septin4 |
C |
T |
11: 87,458,043 (GRCm39) |
S139F |
possibly damaging |
Het |
| Slc52a2 |
T |
A |
15: 76,424,751 (GRCm39) |
C330S |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,668,788 (GRCm39) |
I987N |
possibly damaging |
Het |
| Srrt |
A |
T |
5: 137,294,271 (GRCm39) |
Y486N |
probably damaging |
Het |
| Stat5b |
A |
T |
11: 100,695,831 (GRCm39) |
N50K |
possibly damaging |
Het |
| Strip2 |
T |
A |
6: 29,931,265 (GRCm39) |
D405E |
probably benign |
Het |
| Tcstv6 |
T |
A |
13: 120,298,474 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
T |
4: 63,924,739 (GRCm39) |
D986E |
probably damaging |
Het |
| Tph2 |
T |
C |
10: 114,915,621 (GRCm39) |
N473S |
probably benign |
Het |
| Tpp1 |
C |
T |
7: 105,401,232 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,689,076 (GRCm39) |
Y2H |
probably damaging |
Het |
| Ttc21a |
A |
T |
9: 119,795,195 (GRCm39) |
E1072V |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,050,762 (GRCm39) |
D753G |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,159,051 (GRCm39) |
S609T |
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 |
|
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'- TACCTTTGGGCAGAGTGAAG -3'
(R):5'- CCCCAAGTGCCTAATCTGTC -3'
Sequencing Primer
(F):5'- GGCAGAGTGAAGATAAATTTGTTCC -3'
(R):5'- TTTCCGACTGGACCCAGGATG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation