Incidental Mutation 'R0737:Ccdc33'
ID |
70519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc33
|
Ensembl Gene |
ENSMUSG00000037716 |
Gene Name |
coiled-coil domain containing 33 |
Synonyms |
LOC382077, 4930535E21Rik |
MMRRC Submission |
038918-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0737 (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 57989331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 114
(D114G)
|
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: D114G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040899 Gene: ENSMUSG00000037716 AA Change: D114G
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: D359G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000096279 Gene: ENSMUSG00000037716 AA Change: D359G
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: D114G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112613 Gene: ENSMUSG00000037716 AA Change: D114G
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: ENSMUST00000151404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146741
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145886
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215944
AA Change: D359G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
T |
A |
X: 69,437,813 (GRCm39) |
|
probably benign |
Het |
Aff4 |
T |
A |
11: 53,301,780 (GRCm39) |
L1043* |
probably null |
Het |
Ankrd11 |
G |
T |
8: 123,622,575 (GRCm39) |
R426S |
probably damaging |
Het |
Atm |
T |
A |
9: 53,367,866 (GRCm39) |
N2422I |
probably damaging |
Het |
Bahcc1 |
C |
A |
11: 120,163,667 (GRCm39) |
P655Q |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,951,949 (GRCm39) |
I556V |
possibly damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,255,612 (GRCm39) |
H424R |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,438,299 (GRCm39) |
E864G |
possibly damaging |
Het |
Cit |
T |
A |
5: 116,084,978 (GRCm39) |
S836R |
probably damaging |
Het |
Clip4 |
C |
T |
17: 72,144,694 (GRCm39) |
Q95* |
probably null |
Het |
Col17a1 |
C |
T |
19: 47,657,872 (GRCm39) |
G433S |
possibly damaging |
Het |
Col6a3 |
A |
G |
1: 90,756,020 (GRCm39) |
F90L |
probably damaging |
Het |
Cybc1 |
C |
T |
11: 121,118,068 (GRCm39) |
|
probably null |
Het |
Degs1l |
G |
A |
1: 180,882,944 (GRCm39) |
M235I |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,998,724 (GRCm39) |
H1108R |
probably damaging |
Het |
Elac1 |
A |
T |
18: 73,872,110 (GRCm39) |
M295K |
probably damaging |
Het |
Epas1 |
G |
T |
17: 87,136,884 (GRCm39) |
G816C |
possibly damaging |
Het |
Ermap |
C |
A |
4: 119,035,707 (GRCm39) |
C427F |
probably damaging |
Het |
Fbxo44 |
T |
C |
4: 148,243,266 (GRCm39) |
|
probably benign |
Het |
Fmo4 |
T |
A |
1: 162,635,961 (GRCm39) |
K14* |
probably null |
Het |
Gadl1 |
G |
A |
9: 115,903,055 (GRCm39) |
M461I |
probably damaging |
Het |
Garnl3 |
T |
A |
2: 32,880,654 (GRCm39) |
I868F |
probably damaging |
Het |
Gm7168 |
A |
G |
17: 14,169,245 (GRCm39) |
D204G |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 120,106,795 (GRCm39) |
F401S |
possibly damaging |
Het |
Kcnmb1 |
A |
T |
11: 33,914,701 (GRCm39) |
M1L |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,984,620 (GRCm39) |
T292A |
probably benign |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lamb2 |
T |
A |
9: 108,360,993 (GRCm39) |
W572R |
probably benign |
Het |
Letmd1 |
A |
G |
15: 100,367,702 (GRCm39) |
T87A |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,278,513 (GRCm39) |
Y3947H |
probably damaging |
Het |
Mocos |
T |
C |
18: 24,822,044 (GRCm39) |
F685L |
probably damaging |
Het |
Nsun6 |
A |
T |
2: 15,001,285 (GRCm39) |
F424I |
probably damaging |
Het |
Nup88 |
A |
G |
11: 70,860,776 (GRCm39) |
M1T |
probably null |
Het |
Or13p5 |
C |
T |
4: 118,592,421 (GRCm39) |
R232C |
probably benign |
Het |
Or14c45 |
C |
T |
7: 86,176,195 (GRCm39) |
P77S |
probably damaging |
Het |
Or4c29 |
T |
C |
2: 88,740,617 (GRCm39) |
N40S |
probably damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,570,762 (GRCm39) |
V636D |
probably damaging |
Het |
Pclo |
C |
A |
5: 14,565,453 (GRCm39) |
A73E |
probably damaging |
Het |
Pdlim7 |
A |
T |
13: 55,652,693 (GRCm39) |
|
probably null |
Het |
Phldb1 |
G |
A |
9: 44,610,933 (GRCm39) |
P67S |
possibly damaging |
Het |
Ppp2r2b |
T |
C |
18: 43,192,257 (GRCm39) |
T17A |
probably benign |
Het |
Ppp4r3c2 |
A |
G |
X: 88,797,926 (GRCm39) |
H586R |
probably benign |
Het |
Rab11fip4 |
T |
C |
11: 79,574,328 (GRCm39) |
V241A |
probably benign |
Het |
Slc41a1 |
T |
C |
1: 131,768,690 (GRCm39) |
L216P |
probably damaging |
Het |
Slco1a8 |
G |
T |
6: 141,949,154 (GRCm39) |
A74E |
possibly damaging |
Het |
Smg6 |
T |
A |
11: 75,050,662 (GRCm39) |
D1352E |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,985,942 (GRCm39) |
I816F |
probably damaging |
Het |
Tex264 |
T |
C |
9: 106,536,498 (GRCm39) |
T220A |
probably benign |
Het |
Tmco6 |
G |
A |
18: 36,874,829 (GRCm39) |
V439I |
probably damaging |
Het |
Tmem64 |
A |
G |
4: 15,266,717 (GRCm39) |
I256V |
probably damaging |
Het |
Tnks1bp1 |
A |
G |
2: 84,882,880 (GRCm39) |
S236G |
possibly damaging |
Het |
Tsc1 |
A |
G |
2: 28,560,942 (GRCm39) |
T267A |
possibly damaging |
Het |
Txndc2 |
A |
G |
17: 65,946,548 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
G |
A |
17: 18,497,695 (GRCm39) |
Q26* |
probably null |
Het |
Zan |
T |
C |
5: 137,387,511 (GRCm39) |
D4900G |
unknown |
Het |
Zkscan3 |
T |
C |
13: 21,572,766 (GRCm39) |
T122A |
probably benign |
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 |
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 |
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'- AGGCTGATGCTCAGTTGTGCCC -3'
(R):5'- AGTCTTCCTGTGCTGTATGAGCCTC -3'
Sequencing Primer
(F):5'- GGAGGAGCATCACCTAGACC -3'
(R):5'- GCTGTATGAGCCTCCCTCC -3'
|
Posted On |
2013-09-30 |