Incidental Mutation 'IGL02880:Ccdc65'
| ID |
362777 |
| 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: 0.638)
|
| Stock # |
IGL02880
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98606088-98621217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 98606973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 60
(N60T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003444]
[ENSMUST00000229471]
|
| AlphaFold |
Q8VHI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003444
AA Change: N60T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354
AA Change: N60T
| 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 damaging
Transcript: ENSMUST00000229471
AA Change: N60T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankzf1 |
T |
C |
1: 75,169,312 (GRCm39) |
S73P |
probably benign |
Het |
| Camsap3 |
T |
C |
8: 3,653,913 (GRCm39) |
Y517H |
probably damaging |
Het |
| Catsperg1 |
C |
T |
7: 28,894,910 (GRCm39) |
M562I |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,283,310 (GRCm39) |
D7G |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Col19a1 |
A |
G |
1: 24,365,054 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
T |
C |
9: 44,524,194 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
G |
A |
6: 5,966,821 (GRCm39) |
|
probably null |
Het |
| Eml6 |
T |
C |
11: 29,699,959 (GRCm39) |
N1726D |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,660,640 (GRCm39) |
S706P |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,741,071 (GRCm39) |
P497S |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,257,306 (GRCm39) |
E477G |
probably benign |
Het |
| Gatd1 |
T |
G |
7: 140,990,951 (GRCm39) |
Q65H |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lag3 |
A |
G |
6: 124,882,434 (GRCm39) |
L354S |
probably benign |
Het |
| Lrp1 |
A |
C |
10: 127,376,091 (GRCm39) |
V4342G |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,651,517 (GRCm39) |
I491V |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,937,973 (GRCm39) |
L291P |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 54,019,525 (GRCm39) |
Y523H |
probably benign |
Het |
| Slc47a2 |
C |
T |
11: 61,198,366 (GRCm39) |
G443E |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,654,024 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
C |
T |
4: 45,885,278 (GRCm39) |
T582M |
possibly damaging |
Het |
| Tmem144 |
G |
A |
3: 79,734,929 (GRCm39) |
T163I |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,137,622 (GRCm39) |
Y120H |
probably damaging |
Het |
| Tspan3 |
G |
T |
9: 56,053,800 (GRCm39) |
Q184K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,628,270 (GRCm39) |
V14630D |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,642,584 (GRCm39) |
N1054I |
probably benign |
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 |
|
|
IGL03393:Ccdc65
|
APN |
15 |
98,618,568 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
2015-12-18 |
Incidental Mutation