Incidental Mutation 'R9204:Ccdc33'
| ID |
698389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9204 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57938388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 861
(V861A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034874]
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034874
|
| SMART Domains |
Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
|
Pfam:p450
|
49 |
507 |
1.8e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042205
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
| 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 |
probably benign
Transcript: ENSMUST00000098682
AA Change: V861A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: V861A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
| 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 |
probably benign
Transcript: ENSMUST00000215944
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,996,566 (GRCm39) |
V389A |
possibly damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,660,519 (GRCm39) |
F792S |
probably benign |
Het |
| Angptl2 |
A |
T |
2: 33,118,342 (GRCm39) |
I39F |
probably benign |
Het |
| Aprt |
A |
G |
8: 123,303,355 (GRCm39) |
I29T |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,885,816 (GRCm39) |
S464T |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,603,636 (GRCm39) |
Y151H |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,623 (GRCm39) |
T77A |
unknown |
Het |
| Boc |
C |
A |
16: 44,308,077 (GRCm39) |
C926F |
|
Het |
| Brd10 |
A |
G |
19: 29,696,938 (GRCm39) |
S852P |
possibly damaging |
Het |
| Cabin1 |
C |
T |
10: 75,530,550 (GRCm39) |
R1544Q |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,904,322 (GRCm39) |
T230A |
unknown |
Het |
| Cdc42bpa |
T |
A |
1: 179,939,460 (GRCm39) |
|
probably null |
Het |
| Chrnb2 |
T |
C |
3: 89,668,128 (GRCm39) |
M396V |
probably benign |
Het |
| Chst2 |
A |
G |
9: 95,287,155 (GRCm39) |
V397A |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,126,498 (GRCm39) |
N1643K |
probably damaging |
Het |
| Ckb |
T |
A |
12: 111,637,869 (GRCm39) |
D113V |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,727,571 (GRCm39) |
M136K |
probably damaging |
Het |
| Epas1 |
G |
T |
17: 87,116,873 (GRCm39) |
R181L |
probably damaging |
Het |
| Flnc |
A |
C |
6: 29,452,353 (GRCm39) |
I1726L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,883,022 (GRCm39) |
R2518H |
probably damaging |
Het |
| Gid4 |
T |
C |
11: 60,308,654 (GRCm39) |
V58A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,610,262 (GRCm39) |
N1469I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,278,377 (GRCm39) |
E1693G |
probably damaging |
Het |
| Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,387,438 (GRCm39) |
S410P |
possibly damaging |
Het |
| Lsm11 |
A |
G |
11: 45,824,789 (GRCm39) |
V246A |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,670,425 (GRCm39) |
V1489F |
probably damaging |
Het |
| Mc2r |
T |
C |
18: 68,540,667 (GRCm39) |
T209A |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,581,153 (GRCm39) |
L821P |
probably damaging |
Het |
| Mtus2 |
A |
T |
5: 148,238,293 (GRCm39) |
E1206V |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,410,129 (GRCm39) |
H1234Q |
unknown |
Het |
| Naip5 |
A |
T |
13: 100,359,008 (GRCm39) |
F743I |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,919,305 (GRCm39) |
V1318I |
probably benign |
Het |
| Or4c10b |
T |
G |
2: 89,711,482 (GRCm39) |
L104W |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,382,056 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or5p60 |
A |
T |
7: 107,723,935 (GRCm39) |
N178K |
possibly damaging |
Het |
| Or7g26 |
T |
C |
9: 19,229,995 (GRCm39) |
L61P |
probably damaging |
Het |
| Or8b4 |
C |
A |
9: 37,830,670 (GRCm39) |
T239K |
probably damaging |
Het |
| Or9k2b |
G |
C |
10: 130,016,566 (GRCm39) |
P61R |
probably damaging |
Het |
| Paqr5 |
G |
A |
9: 61,868,826 (GRCm39) |
R246C |
probably benign |
Het |
| Pdgfb |
T |
C |
15: 79,885,956 (GRCm39) |
Q128R |
probably damaging |
Het |
| Prr3 |
T |
A |
17: 36,285,619 (GRCm39) |
I88F |
possibly damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,301 (GRCm39) |
D433N |
probably benign |
Het |
| Scnn1b |
A |
T |
7: 121,498,522 (GRCm39) |
T21S |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,668,857 (GRCm39) |
I2V |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,940,686 (GRCm39) |
D8G |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,098,803 (GRCm39) |
F10L |
probably benign |
Het |
| Tmem126a |
T |
A |
7: 90,102,026 (GRCm39) |
I58F |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,869,880 (GRCm39) |
K398E |
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Usp53 |
G |
T |
3: 122,741,068 (GRCm39) |
N727K |
probably benign |
Het |
| Vmn2r25 |
T |
G |
6: 123,830,092 (GRCm39) |
I20L |
probably benign |
Het |
| Zfp747l1 |
T |
A |
7: 126,984,332 (GRCm39) |
I257L |
unknown |
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 |
|
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 |
|
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'- ATACATGGTATGTGGTTAAACTGGAGG -3'
(R):5'- ACCTTCTGGGATTGGTGCAG -3'
Sequencing Primer
(F):5'- GGTCTTTTGTAGCATAAAGGCTCATC -3'
(R):5'- AGCCTTGGAGAGCCCTTTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation