Incidental Mutation 'R2225:Ccdc33'
ID |
239678 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc33
|
Ensembl Gene |
ENSMUSG00000037716 |
Gene Name |
coiled-coil domain containing 33 |
Synonyms |
LOC382077, 4930535E21Rik |
MMRRC Submission |
040226-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57989305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 123
(S123P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000128021]
[ENSMUST00000136154]
[ENSMUST00000215944]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042205
AA Change: S123P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040899 Gene: ENSMUSG00000037716 AA Change: S123P
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 |
possibly damaging
Transcript: ENSMUST00000098682
AA Change: S368P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000096279 Gene: ENSMUSG00000037716 AA Change: S368P
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 damaging
Transcript: ENSMUST00000119665
AA Change: S123P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112613 Gene: ENSMUSG00000037716 AA Change: S123P
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: ENSMUST00000123746
|
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 |
noncoding transcript
Transcript: ENSMUST00000146741
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151404
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215944
AA Change: S368P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.2635 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
C |
6: 88,813,349 (GRCm39) |
L439R |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably damaging |
Het |
Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
Aggf1 |
A |
G |
13: 95,507,354 (GRCm39) |
S144P |
probably damaging |
Het |
Akap9 |
A |
T |
5: 4,127,271 (GRCm39) |
R3706S |
probably damaging |
Het |
Btd |
A |
G |
14: 31,389,017 (GRCm39) |
D246G |
probably benign |
Het |
Cep152 |
T |
C |
2: 125,423,704 (GRCm39) |
E899G |
probably damaging |
Het |
Cpsf6 |
A |
T |
10: 117,198,941 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,375,041 (GRCm39) |
I2071T |
probably damaging |
Het |
Cwc22 |
T |
A |
2: 77,738,495 (GRCm39) |
|
probably benign |
Het |
Ddah2 |
T |
A |
17: 35,279,187 (GRCm39) |
I16N |
probably damaging |
Het |
Dld |
T |
G |
12: 31,391,448 (GRCm39) |
M123L |
probably benign |
Het |
Eif5b |
A |
T |
1: 38,058,304 (GRCm39) |
K202I |
unknown |
Het |
Gm6430 |
T |
C |
1: 96,953,441 (GRCm39) |
|
noncoding transcript |
Het |
Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
Hspa4 |
C |
T |
11: 53,177,760 (GRCm39) |
V117M |
probably benign |
Het |
Htra4 |
T |
C |
8: 25,515,736 (GRCm39) |
D434G |
probably benign |
Het |
Itgb3 |
A |
G |
11: 104,556,336 (GRCm39) |
M726V |
probably benign |
Het |
Itih1 |
A |
G |
14: 30,651,534 (GRCm39) |
V886A |
possibly damaging |
Het |
Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
Limk1 |
G |
T |
5: 134,690,410 (GRCm39) |
|
probably null |
Het |
Lonrf1 |
T |
C |
8: 36,703,252 (GRCm39) |
D308G |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,576,265 (GRCm39) |
|
probably benign |
Het |
Muc4 |
G |
A |
16: 32,587,316 (GRCm39) |
C2719Y |
possibly damaging |
Het |
Mvb12b |
G |
A |
2: 33,730,211 (GRCm39) |
T60I |
possibly damaging |
Het |
Myh2 |
C |
T |
11: 67,084,555 (GRCm39) |
T1698M |
probably benign |
Het |
Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
Or10d5 |
T |
C |
9: 39,861,833 (GRCm39) |
K78R |
possibly damaging |
Het |
Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
Or8g33 |
T |
C |
9: 39,337,915 (GRCm39) |
I151V |
probably benign |
Het |
Plekhg2 |
G |
A |
7: 28,059,760 (GRCm39) |
P1190S |
probably benign |
Het |
Reck |
A |
G |
4: 43,922,837 (GRCm39) |
T371A |
probably benign |
Het |
Rnf185 |
T |
C |
11: 3,382,445 (GRCm39) |
D44G |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,948,095 (GRCm39) |
E1196G |
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,322,170 (GRCm39) |
|
probably benign |
Het |
Sf3b3 |
T |
C |
8: 111,541,205 (GRCm39) |
Y970C |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
Shprh |
T |
C |
10: 11,037,979 (GRCm39) |
|
probably benign |
Het |
Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
Tbxa2r |
A |
G |
10: 81,168,983 (GRCm39) |
Y224C |
probably benign |
Het |
Tlr5 |
A |
G |
1: 182,799,941 (GRCm39) |
|
probably benign |
Het |
Tmem270 |
A |
G |
5: 134,935,492 (GRCm39) |
L21P |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,206,218 (GRCm39) |
E359G |
probably benign |
Het |
Tnn |
A |
T |
1: 159,975,035 (GRCm39) |
C131S |
probably damaging |
Het |
Tnnt2 |
A |
G |
1: 135,771,529 (GRCm39) |
|
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tph1 |
A |
G |
7: 46,314,598 (GRCm39) |
|
probably null |
Het |
Wiz |
C |
T |
17: 32,575,899 (GRCm39) |
V836M |
probably damaging |
Het |
Zfp451 |
T |
A |
1: 33,809,988 (GRCm39) |
|
probably benign |
Het |
Zfp738 |
A |
G |
13: 67,818,431 (GRCm39) |
F520S |
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 |
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'- TACTCCACATCTCTGGCTTGGG -3'
(R):5'- CACCAGAAAAGAGTGTTACAATGC -3'
Sequencing Primer
(F):5'- CTTGGGAGGAGCATCACCTAGAC -3'
(R):5'- TGCTAAGAAAATAGCTGCACAG -3'
|
Posted On |
2014-10-15 |