Incidental Mutation 'R1857:Ccdc33'
| ID |
206240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
039881-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1857 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57939991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 750
(N750S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042205
AA Change: N565S
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: N565S
| 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: N750S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: N750S
| 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: N564S
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: N564S
| 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: ENSMUST00000143797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153106
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215944
AA Change: N750S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,766,789 (GRCm39) |
I57N |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,960,592 (GRCm39) |
S685P |
probably damaging |
Het |
| Adpgk |
G |
T |
9: 59,222,248 (GRCm39) |
V392L |
probably benign |
Het |
| Akap14 |
C |
T |
X: 36,420,779 (GRCm39) |
A476T |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,367,416 (GRCm39) |
I246N |
probably damaging |
Het |
| Amhr2 |
T |
A |
15: 102,355,212 (GRCm39) |
L165* |
probably null |
Het |
| Atr |
T |
A |
9: 95,747,150 (GRCm39) |
I144N |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,159,076 (GRCm39) |
I2233T |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,324 (GRCm39) |
V774F |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,632,518 (GRCm39) |
T362K |
possibly damaging |
Het |
| Cnih3 |
A |
G |
1: 181,277,638 (GRCm39) |
H101R |
probably damaging |
Het |
| Crebrf |
T |
A |
17: 26,961,937 (GRCm39) |
Y345N |
probably benign |
Het |
| Cyb5r4 |
C |
T |
9: 86,923,332 (GRCm39) |
S185L |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,547,723 (GRCm39) |
E173G |
possibly damaging |
Het |
| Cyp3a41b |
T |
A |
5: 145,503,660 (GRCm39) |
I296F |
probably benign |
Het |
| Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
| Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,629,059 (GRCm39) |
F4205L |
probably damaging |
Het |
| Eif3a |
A |
C |
19: 60,770,635 (GRCm39) |
L71V |
probably damaging |
Het |
| Eif3h |
T |
C |
15: 51,662,674 (GRCm39) |
Y124C |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,903,187 (GRCm39) |
Q1169L |
possibly damaging |
Het |
| Endod1 |
T |
A |
9: 14,268,405 (GRCm39) |
H360L |
probably benign |
Het |
| Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,562,294 (GRCm39) |
T738S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,957,539 (GRCm39) |
T148S |
probably damaging |
Het |
| Gm4894 |
T |
C |
9: 49,189,976 (GRCm39) |
S84P |
unknown |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Il1f10 |
A |
T |
2: 24,182,817 (GRCm39) |
D31V |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
| Meiob |
T |
C |
17: 25,042,544 (GRCm39) |
V124A |
probably damaging |
Het |
| Mmp11 |
A |
T |
10: 75,764,191 (GRCm39) |
D91E |
probably benign |
Het |
| Mpped2 |
T |
C |
2: 106,613,989 (GRCm39) |
Y108H |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,866,714 (GRCm39) |
V674A |
probably damaging |
Het |
| Mtor |
G |
T |
4: 148,565,336 (GRCm39) |
Q1015H |
probably damaging |
Het |
| Mylk3 |
G |
A |
8: 86,055,223 (GRCm39) |
T711I |
probably damaging |
Het |
| Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
| Neurl4 |
G |
T |
11: 69,796,361 (GRCm39) |
G435V |
probably damaging |
Het |
| Nipal2 |
A |
G |
15: 34,678,779 (GRCm39) |
S21P |
possibly damaging |
Het |
| Nphp1 |
T |
A |
2: 127,612,296 (GRCm39) |
D217V |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,898,493 (GRCm39) |
I432T |
possibly damaging |
Het |
| Oprd1 |
T |
G |
4: 131,840,992 (GRCm39) |
D322A |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,992 (GRCm39) |
L198P |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,346 (GRCm39) |
M83V |
possibly damaging |
Het |
| Or56a3b |
T |
G |
7: 104,770,751 (GRCm39) |
L29R |
probably benign |
Het |
| Pcdh10 |
C |
A |
3: 45,334,372 (GRCm39) |
Q229K |
possibly damaging |
Het |
| Pdlim7 |
G |
A |
13: 55,653,858 (GRCm39) |
T253M |
probably damaging |
Het |
| Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
| Pigc |
T |
G |
1: 161,798,446 (GRCm39) |
S143A |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
| Ppp2r1a |
T |
C |
17: 21,181,951 (GRCm39) |
S490P |
possibly damaging |
Het |
| Ppp2r3d |
T |
A |
9: 101,090,092 (GRCm39) |
N77I |
probably damaging |
Het |
| Pramel17 |
T |
C |
4: 101,692,770 (GRCm39) |
Y410C |
probably damaging |
Het |
| Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,163 (GRCm39) |
C213* |
probably null |
Het |
| Prpf8 |
T |
A |
11: 75,386,249 (GRCm39) |
|
probably null |
Het |
| Psmd7 |
A |
T |
8: 108,311,525 (GRCm39) |
N109K |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,224,549 (GRCm39) |
K936E |
possibly damaging |
Het |
| Ro60 |
T |
C |
1: 143,646,488 (GRCm39) |
T86A |
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,298,700 (GRCm39) |
Q691L |
probably damaging |
Het |
| Sars2 |
A |
G |
7: 28,449,437 (GRCm39) |
M322V |
probably benign |
Het |
| Scfd2 |
C |
A |
5: 74,372,962 (GRCm39) |
E638* |
probably null |
Het |
| Scgb3a2 |
A |
G |
18: 43,899,900 (GRCm39) |
T63A |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
| Smarcd1 |
A |
G |
15: 99,607,295 (GRCm39) |
K382E |
probably damaging |
Het |
| Sox5 |
T |
A |
6: 143,906,541 (GRCm39) |
S305C |
probably damaging |
Het |
| Sp5 |
C |
A |
2: 70,307,213 (GRCm39) |
H299Q |
possibly damaging |
Het |
| Stard13 |
T |
C |
5: 151,018,903 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,336,752 (GRCm39) |
F383L |
probably damaging |
Het |
| Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
T |
C |
5: 87,052,241 (GRCm39) |
T252A |
possibly damaging |
Het |
| Vangl2 |
A |
T |
1: 171,837,464 (GRCm39) |
L115Q |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,597 (GRCm39) |
I324T |
probably benign |
Het |
| Vwa5b1 |
A |
G |
4: 138,296,413 (GRCm39) |
F1205L |
probably damaging |
Het |
| Zfp951 |
G |
C |
5: 104,962,723 (GRCm39) |
T281R |
probably damaging |
Het |
| Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- CACCATGGAAGCTCTCAGTACTTG -3'
(R):5'- TGCAGAAGATGAAGGCCCTG -3'
Sequencing Primer
(F):5'- TGAGAGAGGTGAGAGTAATATTTCTC -3'
(R):5'- TGGAGGACACTGTACGGCAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation