Incidental Mutation 'IGL03393:Ccdc65'
| ID |
421149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc65
|
| Ensembl Gene |
ENSMUSG00000003354 |
| Gene Name |
coiled-coil domain containing 65 |
| Synonyms |
4933417K04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.717)
|
| Stock # |
IGL03393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98606088-98621217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 98618568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 241
(E241A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003444]
[ENSMUST00000003445]
|
| AlphaFold |
Q8VHI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003444
AA Change: E241A
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354
AA Change: E241A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
Pfam:NYD-SP28
|
27 |
127 |
9.8e-32 |
PFAM |
|
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003445
|
| SMART Domains |
Protein: ENSMUSP00000003445
Gene: ENSMUSG00000003355
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
50 |
141 |
2.5e-26 |
PFAM |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230743
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 86,909,902 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
G |
T |
16: 85,665,083 (GRCm39) |
S627Y |
probably damaging |
Het |
| Allc |
G |
A |
12: 28,610,010 (GRCm39) |
R196C |
probably damaging |
Het |
| Dclk3 |
T |
C |
9: 111,317,741 (GRCm39) |
|
probably benign |
Het |
| Fzd4 |
T |
C |
7: 89,056,505 (GRCm39) |
V184A |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,784,083 (GRCm39) |
|
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,511,366 (GRCm39) |
V211A |
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,491,355 (GRCm39) |
I623T |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,696,665 (GRCm39) |
T687A |
probably benign |
Het |
| Kcnc4 |
T |
G |
3: 107,355,243 (GRCm39) |
M402L |
possibly damaging |
Het |
| Ktn1 |
T |
C |
14: 47,928,391 (GRCm39) |
L584S |
probably damaging |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,650 (GRCm39) |
S25N |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
| Or4c58 |
C |
A |
2: 89,674,913 (GRCm39) |
V135L |
probably benign |
Het |
| Or6c3b |
T |
C |
10: 129,527,147 (GRCm39) |
I254M |
probably damaging |
Het |
| Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,400,972 (GRCm39) |
D224G |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,710,648 (GRCm39) |
C1525S |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,865,156 (GRCm39) |
L669F |
probably damaging |
Het |
| Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,326,009 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
T |
19: 41,860,232 (GRCm39) |
M997K |
possibly damaging |
Het |
| Sbno2 |
G |
A |
10: 79,902,735 (GRCm39) |
R414W |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,148,362 (GRCm39) |
D41G |
probably benign |
Het |
| Serpinb1c |
A |
T |
13: 33,066,044 (GRCm39) |
D300E |
probably damaging |
Het |
| Timeless |
G |
A |
10: 128,087,924 (GRCm39) |
D1165N |
probably damaging |
Het |
| Tnpo1 |
T |
G |
13: 99,024,981 (GRCm39) |
K66N |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,963,912 (GRCm39) |
N629K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,179,989 (GRCm39) |
L255M |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,091,042 (GRCm39) |
Y211* |
probably null |
Het |
| Vmn2r76 |
T |
G |
7: 85,879,034 (GRCm39) |
N422T |
probably benign |
Het |
| Xylt1 |
C |
A |
7: 117,192,940 (GRCm39) |
N415K |
probably damaging |
Het |
| Zfp786 |
A |
T |
6: 47,798,458 (GRCm39) |
V160E |
possibly damaging |
Het |
|
| Other mutations in Ccdc65 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01072:Ccdc65
|
APN |
15 |
98,606,277 (GRCm39) |
start codon destroyed |
unknown |
|
|
IGL01800:Ccdc65
|
APN |
15 |
98,606,946 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02300:Ccdc65
|
APN |
15 |
98,620,991 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02880:Ccdc65
|
APN |
15 |
98,606,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Ccdc65
|
UTSW |
15 |
98,615,348 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0503:Ccdc65
|
UTSW |
15 |
98,607,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Ccdc65
|
UTSW |
15 |
98,618,930 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0707:Ccdc65
|
UTSW |
15 |
98,607,095 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2173:Ccdc65
|
UTSW |
15 |
98,618,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4880:Ccdc65
|
UTSW |
15 |
98,620,538 (GRCm39) |
splice site |
probably null |
|
|
R6176:Ccdc65
|
UTSW |
15 |
98,606,433 (GRCm39) |
splice site |
probably null |
|
|
R7337:Ccdc65
|
UTSW |
15 |
98,618,977 (GRCm39) |
missense |
probably benign |
|
|
R8524:Ccdc65
|
UTSW |
15 |
98,606,990 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8968:Ccdc65
|
UTSW |
15 |
98,616,723 (GRCm39) |
nonsense |
probably null |
|
|
R9124:Ccdc65
|
UTSW |
15 |
98,618,863 (GRCm39) |
nonsense |
probably null |
|
|
R9561:Ccdc65
|
UTSW |
15 |
98,620,759 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9568:Ccdc65
|
UTSW |
15 |
98,620,819 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Posted On |
2016-08-02 |
Incidental Mutation