Incidental Mutation 'R4931:Ccdc33'
| ID |
380573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
042532-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4931 (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 57977134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 289
(Y289C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042205
AA Change: Y289C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: Y289C
| 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: Y498C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: Y498C
| 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: Y289C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: Y289C
| 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: ENSMUST00000145886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146741
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215944
AA Change: Y498C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1415 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
95% (78/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
G |
3: 145,643,875 (GRCm39) |
D21G |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,678,910 (GRCm39) |
L68P |
possibly damaging |
Het |
| Ache |
A |
G |
5: 137,290,176 (GRCm39) |
I414V |
probably benign |
Het |
| Acy1 |
G |
A |
9: 106,310,390 (GRCm39) |
H308Y |
probably damaging |
Het |
| Aldh1b1 |
A |
C |
4: 45,803,661 (GRCm39) |
I400L |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,225,647 (GRCm39) |
L226Q |
probably benign |
Het |
| B3gnt9 |
T |
C |
8: 105,980,876 (GRCm39) |
T171A |
probably benign |
Het |
| Cd209f |
A |
T |
8: 4,153,688 (GRCm39) |
I187N |
probably damaging |
Het |
| Cers6 |
T |
G |
2: 68,935,456 (GRCm39) |
S319A |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,670,665 (GRCm39) |
S364P |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,884,258 (GRCm39) |
S317P |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,774 (GRCm39) |
V1129A |
probably benign |
Het |
| Dhx9 |
G |
A |
1: 153,348,419 (GRCm39) |
P302L |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,583,793 (GRCm39) |
F496L |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,127,236 (GRCm39) |
N147S |
probably benign |
Het |
| Dytn |
T |
G |
1: 63,672,837 (GRCm39) |
E522A |
probably benign |
Het |
| E130114P18Rik |
T |
C |
4: 97,608,524 (GRCm39) |
D27G |
unknown |
Het |
| Egf |
A |
G |
3: 129,505,117 (GRCm39) |
F118S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,082,128 (GRCm39) |
F73L |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,474,240 (GRCm39) |
E237G |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,214,165 (GRCm39) |
E664G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,526,895 (GRCm39) |
S373T |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,784,699 (GRCm39) |
F894Y |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,372,050 (GRCm39) |
E496G |
unknown |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,588 (GRCm39) |
K465E |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,031,297 (GRCm39) |
T459A |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,803,797 (GRCm39) |
I64F |
probably damaging |
Het |
| Itgb2l |
T |
A |
16: 96,238,649 (GRCm39) |
N50I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,962,531 (GRCm39) |
I478T |
probably damaging |
Het |
| Krt31 |
G |
A |
11: 99,940,983 (GRCm39) |
T109I |
probably benign |
Het |
| Ltbr |
G |
T |
6: 125,284,437 (GRCm39) |
|
probably null |
Het |
| Magel2 |
A |
G |
7: 62,030,372 (GRCm39) |
D1092G |
unknown |
Het |
| Minar1 |
T |
C |
9: 89,483,705 (GRCm39) |
H564R |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,401,024 (GRCm39) |
N231K |
probably damaging |
Het |
| Mpnd |
T |
G |
17: 56,319,362 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,014,226 (GRCm39) |
L340F |
probably benign |
Het |
| Nanog |
G |
A |
6: 122,684,865 (GRCm39) |
A17T |
possibly damaging |
Het |
| Ndufa9 |
G |
T |
6: 126,813,283 (GRCm39) |
A181E |
probably damaging |
Het |
| Or52z14 |
T |
G |
7: 103,253,581 (GRCm39) |
L240R |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,048,858 (GRCm39) |
I149F |
probably benign |
Het |
| Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
| Pramel18 |
T |
C |
4: 101,766,367 (GRCm39) |
V17A |
possibly damaging |
Het |
| Prkacb |
T |
C |
3: 146,453,732 (GRCm39) |
I211V |
possibly damaging |
Het |
| Ptpn14 |
C |
G |
1: 189,583,474 (GRCm39) |
L774V |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,492,848 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,573,028 (GRCm39) |
P391Q |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sf3b3 |
C |
T |
8: 111,542,961 (GRCm39) |
R832Q |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,068,035 (GRCm39) |
D975G |
possibly damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,987,811 (GRCm39) |
L632P |
probably damaging |
Het |
| Spire2 |
A |
G |
8: 124,095,523 (GRCm39) |
D542G |
possibly damaging |
Het |
| Sppl3 |
A |
T |
5: 115,220,373 (GRCm39) |
Q95L |
probably damaging |
Het |
| Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
| Tcl1 |
G |
T |
12: 105,188,872 (GRCm39) |
H14N |
probably damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,555 (GRCm39) |
F70L |
probably benign |
Het |
| Tnfrsf13b |
A |
T |
11: 61,031,763 (GRCm39) |
T35S |
possibly damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,821,046 (GRCm39) |
P336L |
probably benign |
Het |
| Trf |
C |
A |
9: 103,105,247 (GRCm39) |
D22Y |
probably damaging |
Het |
| Ttyh1 |
A |
G |
7: 4,136,943 (GRCm39) |
|
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,031 (GRCm39) |
I602F |
probably benign |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,541 (GRCm39) |
Y227C |
probably damaging |
Het |
| Zfp599 |
A |
T |
9: 22,169,419 (GRCm39) |
W18R |
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 |
|
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'- CTCACTGAGGGACACTTATGC -3'
(R):5'- ACATGTACAACCGAATCTGAAGG -3'
Sequencing Primer
(F):5'- CTGAGGGACACTTATGCTATCCAG -3'
(R):5'- GGAAGGTATAACCCACATCTGTTCTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation