Incidental Mutation 'R4663:Ccdc40'
| ID |
353033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
041921-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R4663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119228572-119265236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119231506 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 45
(I45V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035935]
[ENSMUST00000036113]
[ENSMUST00000053440]
[ENSMUST00000207655]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035935
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
7 |
48 |
1.25e-8 |
PROSPERO |
|
internal_repeat_1
|
55 |
96 |
1.25e-8 |
PROSPERO |
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
232 |
N/A |
INTRINSIC |
|
coiled coil region
|
349 |
371 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
447 |
N/A |
INTRINSIC |
|
Blast:HisKA
|
450 |
519 |
3e-13 |
BLAST |
|
Blast:HisKA
|
574 |
629 |
5e-8 |
BLAST |
|
low complexity region
|
793 |
805 |
N/A |
INTRINSIC |
|
Pfam:BRE1
|
830 |
928 |
4.2e-20 |
PFAM |
|
coiled coil region
|
1044 |
1112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036113
|
| SMART Domains |
Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
Blast:TBC
|
63 |
362 |
5e-75 |
BLAST |
|
Blast:TBC
|
373 |
418 |
2e-13 |
BLAST |
|
TBC
|
421 |
659 |
4.39e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053440
AA Change: I45V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: I45V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
70 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
79 |
114 |
5.57e-8 |
PROSPERO |
|
internal_repeat_1
|
111 |
150 |
5.57e-8 |
PROSPERO |
|
low complexity region
|
229 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
302 |
N/A |
INTRINSIC |
|
coiled coil region
|
419 |
441 |
N/A |
INTRINSIC |
|
coiled coil region
|
493 |
517 |
N/A |
INTRINSIC |
|
Blast:HisKA
|
520 |
589 |
2e-13 |
BLAST |
|
Blast:HisKA
|
644 |
699 |
4e-8 |
BLAST |
|
low complexity region
|
863 |
875 |
N/A |
INTRINSIC |
|
Pfam:BRE1
|
900 |
998 |
4e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150358
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207655
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit heterotaxia, hydrocephalus, short embryonic cilia, and postnatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,218,455 |
V1496A |
probably benign |
Het |
| Aqr |
A |
T |
2: 114,161,666 |
Y76* |
probably null |
Het |
| Armc5 |
C |
A |
7: 128,238,545 |
A140E |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,439,638 |
H947R |
probably damaging |
Het |
| Bag2 |
T |
C |
1: 33,746,993 |
T83A |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 25,769,488 |
A228T |
probably benign |
Het |
| Bean1 |
A |
G |
8: 104,211,167 |
Y126C |
probably damaging |
Het |
| Cars |
T |
C |
7: 143,575,960 |
E330G |
probably damaging |
Het |
| Cd320 |
G |
A |
17: 33,848,178 |
G214R |
probably null |
Het |
| Ckm |
G |
A |
7: 19,419,494 |
V237M |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,886,676 |
V565A |
possibly damaging |
Het |
| Ephb6 |
A |
G |
6: 41,617,865 |
Y638C |
probably damaging |
Het |
| Epp13 |
T |
G |
7: 6,258,625 |
I35S |
possibly damaging |
Het |
| Fam196a |
A |
T |
7: 134,899,148 |
Y409* |
probably null |
Het |
| Fat2 |
G |
C |
11: 55,296,213 |
S1269* |
probably null |
Het |
| Fbxo3 |
T |
C |
2: 104,053,475 |
V348A |
probably damaging |
Het |
| Gas6 |
G |
A |
8: 13,470,254 |
P478L |
probably damaging |
Het |
| Gm11492 |
T |
A |
11: 87,567,603 |
Y268N |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,433,378 |
S1670P |
probably damaging |
Het |
| Hnrnpk |
C |
A |
13: 58,394,517 |
R281L |
probably damaging |
Het |
| Ifih1 |
C |
A |
2: 62,609,219 |
C488F |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,284,215 |
K192E |
probably benign |
Het |
| Ighv5-9 |
T |
A |
12: 113,661,820 |
Q101L |
probably benign |
Het |
| Igkv3-2 |
G |
T |
6: 70,698,879 |
M57I |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,373,173 |
F837S |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,337,817 |
Y237C |
unknown |
Het |
| Lats1 |
G |
A |
10: 7,712,583 |
C988Y |
probably damaging |
Het |
| Lgals3 |
T |
A |
14: 47,381,622 |
|
probably null |
Het |
| Lrrc3b |
G |
T |
14: 15,358,220 |
H129N |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,063,412 |
H1656R |
possibly damaging |
Het |
| Lypd6 |
T |
G |
2: 50,173,611 |
Y43* |
probably null |
Het |
| Mfsd7a |
T |
C |
5: 108,442,145 |
M464V |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,328,677 |
D674G |
possibly damaging |
Het |
| Msi1 |
G |
A |
5: 115,450,275 |
R284Q |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,505,642 |
E947G |
probably damaging |
Het |
| Nat14 |
T |
A |
7: 4,924,447 |
L206Q |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,965,846 |
|
probably null |
Het |
| Olfr27 |
A |
T |
9: 39,144,849 |
I250F |
probably damaging |
Het |
| Olfr727 |
A |
G |
14: 50,127,482 |
R302G |
probably benign |
Het |
| Olfr743 |
A |
T |
14: 50,533,604 |
Y64F |
probably damaging |
Het |
| Pdcl |
T |
C |
2: 37,355,766 |
E75G |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,953,422 |
I387V |
possibly damaging |
Het |
| Phf3 |
G |
A |
1: 30,821,215 |
R845W |
probably damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,798,602 |
I59T |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,419,848 |
|
probably null |
Het |
| Psmb2 |
T |
C |
4: 126,677,765 |
L4P |
probably damaging |
Het |
| Pttg1 |
T |
A |
11: 43,424,850 |
K46* |
probably null |
Het |
| Rrnad1 |
A |
G |
3: 87,927,748 |
S82P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,749,509 |
H1401R |
possibly damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,123,263 |
D696N |
probably benign |
Het |
| Slc16a2 |
T |
C |
X: 103,707,979 |
T274A |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,857,907 |
A335T |
probably damaging |
Het |
| Slc6a5 |
C |
A |
7: 49,938,398 |
Y493* |
probably null |
Het |
| Slf1 |
A |
T |
13: 77,126,604 |
S37R |
probably damaging |
Het |
| Smoc1 |
G |
A |
12: 81,167,602 |
G264S |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,374,181 |
E280G |
possibly damaging |
Het |
| Snx25 |
G |
A |
8: 46,035,579 |
T913M |
probably damaging |
Het |
| Snx7 |
T |
C |
3: 117,800,879 |
T408A |
probably benign |
Het |
| Spdya |
T |
A |
17: 71,578,344 |
S264R |
probably benign |
Het |
| Spg11 |
A |
T |
2: 122,098,099 |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 80,013,524 |
L230Q |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,377,684 |
|
probably benign |
Het |
| Tenm3 |
C |
A |
8: 48,235,970 |
R2194L |
probably damaging |
Het |
| Tmed8 |
T |
A |
12: 87,174,231 |
I194F |
probably damaging |
Het |
| Tmem79 |
T |
A |
3: 88,333,444 |
T66S |
probably damaging |
Het |
| Trappc1 |
T |
A |
11: 69,325,511 |
S118T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,776,495 |
T18024A |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,738,881 |
V27223I |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,294,074 |
M164I |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,600,974 |
Y253F |
probably benign |
Het |
| Wdr92 |
T |
C |
11: 17,232,853 |
V338A |
probably benign |
Het |
| Zfand6 |
C |
T |
7: 84,617,885 |
R163H |
probably benign |
Het |
|
| Other mutations in Ccdc40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01538:Ccdc40
|
APN |
11 |
119,242,719 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01864:Ccdc40
|
APN |
11 |
119,243,085 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL01911:Ccdc40
|
APN |
11 |
119,231,971 (GRCm38) |
splice site |
probably null |
|
|
IGL02640:Ccdc40
|
APN |
11 |
119,238,078 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03278:Ccdc40
|
APN |
11 |
119,242,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03054:Ccdc40
|
UTSW |
11 |
119,263,201 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
PIT4151001:Ccdc40
|
UTSW |
11 |
119,242,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0139:Ccdc40
|
UTSW |
11 |
119,264,299 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0140:Ccdc40
|
UTSW |
11 |
119,264,299 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0415:Ccdc40
|
UTSW |
11 |
119,232,118 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0617:Ccdc40
|
UTSW |
11 |
119,242,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Ccdc40
|
UTSW |
11 |
119,231,803 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1531:Ccdc40
|
UTSW |
11 |
119,263,189 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1751:Ccdc40
|
UTSW |
11 |
119,230,696 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1767:Ccdc40
|
UTSW |
11 |
119,230,696 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1870:Ccdc40
|
UTSW |
11 |
119,259,904 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1971:Ccdc40
|
UTSW |
11 |
119,263,075 (GRCm38) |
splice site |
probably null |
|
|
R2106:Ccdc40
|
UTSW |
11 |
119,264,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2370:Ccdc40
|
UTSW |
11 |
119,263,117 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3421:Ccdc40
|
UTSW |
11 |
119,234,779 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3746:Ccdc40
|
UTSW |
11 |
119,264,426 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3749:Ccdc40
|
UTSW |
11 |
119,264,426 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3871:Ccdc40
|
UTSW |
11 |
119,264,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4508:Ccdc40
|
UTSW |
11 |
119,242,509 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4613:Ccdc40
|
UTSW |
11 |
119,231,532 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4787:Ccdc40
|
UTSW |
11 |
119,253,621 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4867:Ccdc40
|
UTSW |
11 |
119,231,788 (GRCm38) |
missense |
probably benign |
|
|
R5237:Ccdc40
|
UTSW |
11 |
119,259,976 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5661:Ccdc40
|
UTSW |
11 |
119,237,927 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5678:Ccdc40
|
UTSW |
11 |
119,231,572 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5805:Ccdc40
|
UTSW |
11 |
119,246,080 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5830:Ccdc40
|
UTSW |
11 |
119,242,746 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5895:Ccdc40
|
UTSW |
11 |
119,253,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5932:Ccdc40
|
UTSW |
11 |
119,251,012 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6034:Ccdc40
|
UTSW |
11 |
119,243,072 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6034:Ccdc40
|
UTSW |
11 |
119,243,072 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6109:Ccdc40
|
UTSW |
11 |
119,231,978 (GRCm38) |
missense |
probably benign |
|
|
R6166:Ccdc40
|
UTSW |
11 |
119,232,001 (GRCm38) |
missense |
probably benign |
|
|
R6336:Ccdc40
|
UTSW |
11 |
119,231,993 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6569:Ccdc40
|
UTSW |
11 |
119,242,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6884:Ccdc40
|
UTSW |
11 |
119,242,739 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7022:Ccdc40
|
UTSW |
11 |
119,231,786 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7212:Ccdc40
|
UTSW |
11 |
119,264,444 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7472:Ccdc40
|
UTSW |
11 |
119,263,148 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7522:Ccdc40
|
UTSW |
11 |
119,232,221 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7888:Ccdc40
|
UTSW |
11 |
119,229,141 (GRCm38) |
missense |
unknown |
|
|
R8041:Ccdc40
|
UTSW |
11 |
119,231,681 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8117:Ccdc40
|
UTSW |
11 |
119,253,385 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8162:Ccdc40
|
UTSW |
11 |
119,260,044 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8514:Ccdc40
|
UTSW |
11 |
119,230,633 (GRCm38) |
missense |
unknown |
|
|
R8725:Ccdc40
|
UTSW |
11 |
119,264,497 (GRCm38) |
missense |
probably benign |
|
|
R8727:Ccdc40
|
UTSW |
11 |
119,264,497 (GRCm38) |
missense |
probably benign |
|
|
R8799:Ccdc40
|
UTSW |
11 |
119,264,466 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8877:Ccdc40
|
UTSW |
11 |
119,263,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9304:Ccdc40
|
UTSW |
11 |
119,231,771 (GRCm38) |
missense |
probably benign |
0.06 |
|
S24628:Ccdc40
|
UTSW |
11 |
119,232,118 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Z1176:Ccdc40
|
UTSW |
11 |
119,252,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ccdc40
|
UTSW |
11 |
119,254,398 (GRCm38) |
missense |
probably benign |
0.16 |
|
Z1177:Ccdc40
|
UTSW |
11 |
119,238,107 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTTGTAACACGTGCC -3'
(R):5'- TTCCACATCTGTGTCTGGAGC -3'
Sequencing Primer
(F):5'- GCTTGTAACACGTGCCTCTAGAAAG -3'
(R):5'- GAGCGGTCTCTCCAATGAATTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation