Incidental Mutation 'R7121:Ccdc33'
| ID |
552016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| MMRRC Submission |
045210-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7121 (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 T
at 57988167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 144
(S144T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000128021]
[ENSMUST00000136154]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042205
AA Change: S144T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: S144T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
| 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: S144T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: S144T
| 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: 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 |
probably benign
Transcript: ENSMUST00000215944
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,634,853 (GRCm39) |
L137* |
probably null |
Het |
| Akap10 |
A |
G |
11: 61,777,524 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,601,604 (GRCm39) |
Y1683N |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 69,978,408 (GRCm39) |
S127G |
probably damaging |
Het |
| Cadm1 |
G |
A |
9: 47,710,708 (GRCm39) |
V204M |
probably damaging |
Het |
| Cbr3 |
T |
A |
16: 93,487,438 (GRCm39) |
I207N |
probably damaging |
Het |
| Ccdc148 |
A |
T |
2: 58,717,579 (GRCm39) |
Y475N |
probably damaging |
Het |
| Ceacam5 |
C |
A |
7: 17,479,462 (GRCm39) |
A193E |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,119,418 (GRCm39) |
D1042G |
probably benign |
Het |
| Chmp5 |
A |
T |
4: 40,952,217 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
A |
3: 144,717,567 (GRCm39) |
N467I |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,754,931 (GRCm39) |
V112A |
probably damaging |
Het |
| Dbh |
A |
T |
2: 27,058,318 (GRCm39) |
D162V |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnm2 |
C |
T |
9: 21,385,862 (GRCm39) |
T295I |
probably benign |
Het |
| Faiml |
A |
C |
9: 99,116,446 (GRCm39) |
D81E |
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,886,477 (GRCm39) |
Y720F |
probably benign |
Het |
| Fn1 |
A |
C |
1: 71,639,697 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,143,123 (GRCm39) |
E397G |
probably damaging |
Het |
| Gm16506 |
T |
C |
14: 43,964,817 (GRCm39) |
K42E |
|
Het |
| Gpr179 |
A |
G |
11: 97,225,556 (GRCm39) |
S2200P |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,028,884 (GRCm39) |
D202G |
probably benign |
Het |
| Hspe1 |
A |
G |
1: 55,128,310 (GRCm39) |
E35G |
probably damaging |
Het |
| Kptn |
T |
A |
7: 15,857,023 (GRCm39) |
H170Q |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,595,839 (GRCm39) |
A923T |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,471 (GRCm39) |
I432K |
probably damaging |
Het |
| Maneal |
G |
A |
4: 124,750,905 (GRCm39) |
P284S |
probably benign |
Het |
| Mrgbp |
A |
G |
2: 180,224,682 (GRCm39) |
T28A |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,476,290 (GRCm39) |
V493A |
|
Het |
| Naxd |
T |
C |
8: 11,556,745 (GRCm39) |
L122P |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,397,020 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
A |
11: 58,904,078 (GRCm39) |
R7299* |
probably null |
Het |
| Odf2l |
G |
A |
3: 144,845,581 (GRCm39) |
V363I |
possibly damaging |
Het |
| Or2g25 |
T |
C |
17: 37,970,699 (GRCm39) |
H175R |
probably damaging |
Het |
| Or2t35 |
A |
G |
14: 14,407,998 (GRCm38) |
T257A |
possibly damaging |
Het |
| Or4c100 |
A |
T |
2: 88,356,170 (GRCm39) |
D81V |
probably damaging |
Het |
| Or52a5b |
A |
T |
7: 103,416,940 (GRCm39) |
Y221* |
probably null |
Het |
| Or5b105 |
T |
A |
19: 13,080,537 (GRCm39) |
I44F |
probably benign |
Het |
| Otud3 |
G |
A |
4: 138,624,067 (GRCm39) |
P325L |
probably benign |
Het |
| Palb2 |
T |
C |
7: 121,724,057 (GRCm39) |
N564S |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,263,761 (GRCm39) |
V401A |
possibly damaging |
Het |
| Plcd4 |
G |
A |
1: 74,604,524 (GRCm39) |
E767K |
probably benign |
Het |
| Ppp3ca |
T |
C |
3: 136,574,387 (GRCm39) |
F95S |
probably damaging |
Het |
| Prkar2a |
A |
G |
9: 108,569,821 (GRCm39) |
T56A |
probably benign |
Het |
| Psma2 |
T |
A |
13: 14,799,815 (GRCm39) |
D186E |
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,329,099 (GRCm39) |
Y72* |
probably null |
Het |
| Ror1 |
G |
A |
4: 100,160,142 (GRCm39) |
D53N |
probably benign |
Het |
| Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
| Sgca |
G |
A |
11: 94,860,373 (GRCm39) |
P255S |
possibly damaging |
Het |
| Skint11 |
A |
T |
4: 114,084,993 (GRCm39) |
R167S |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,060,661 (GRCm39) |
V20A |
probably benign |
Het |
| Snai2 |
T |
C |
16: 14,524,970 (GRCm39) |
S159P |
probably benign |
Het |
| Taar2 |
T |
G |
10: 23,816,725 (GRCm39) |
S88R |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,824,509 (GRCm39) |
N378K |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,699,647 (GRCm39) |
K342E |
probably benign |
Het |
| Tm9sf3 |
G |
T |
19: 41,233,944 (GRCm39) |
S198* |
probably null |
Het |
| Tmbim4 |
T |
A |
10: 120,051,514 (GRCm39) |
F56I |
possibly damaging |
Het |
| Tsen34 |
T |
A |
7: 3,697,986 (GRCm39) |
S85T |
probably benign |
Het |
| Ttc27 |
C |
A |
17: 75,054,710 (GRCm39) |
Q339K |
probably benign |
Het |
| Ubap2 |
G |
T |
4: 41,205,550 (GRCm39) |
P636T |
probably benign |
Het |
| Ubr1 |
G |
A |
2: 120,705,979 (GRCm39) |
L1495F |
probably benign |
Het |
| Vsig10 |
T |
C |
5: 117,481,967 (GRCm39) |
S386P |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,300,653 (GRCm39) |
R19L |
probably benign |
Het |
| Wsb2 |
T |
C |
5: 117,508,944 (GRCm39) |
L126P |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,211,358 (GRCm39) |
I402V |
probably benign |
Het |
| Yrdc |
A |
G |
4: 124,744,748 (GRCm39) |
S61G |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,780,771 (GRCm39) |
D128G |
probably damaging |
Het |
| Zfp423 |
C |
T |
8: 88,507,489 (GRCm39) |
G952R |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,944 (GRCm39) |
T374A |
possibly 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 |
|
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 |
|
|
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'- GCTTAGGTCATTTAGAGGCAAC -3'
(R):5'- AGGCAAGCAGTAGTCCCTTC -3'
Sequencing Primer
(F):5'- GGCAACTAAGGCTTCTATCTGTC -3'
(R):5'- CCTTCGAGGGCAATGAAATATTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation