Incidental Mutation 'R4867:Ccdc40'
ID |
376262 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc40
|
Ensembl Gene |
ENSMUSG00000039963 |
Gene Name |
coiled-coil domain containing 40 |
Synonyms |
B930008I02Rik |
MMRRC Submission |
042477-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R4867 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119122614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 139
(S139P)
|
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
AA Change: S69P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039463 Gene: ENSMUSG00000039963 AA Change: S69P
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: S139P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000062198 Gene: ENSMUSG00000039963 AA Change: S139P
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
T |
C |
8: 125,366,099 (GRCm39) |
I215V |
probably damaging |
Het |
4921509C19Rik |
A |
T |
2: 151,314,742 (GRCm39) |
L312* |
probably null |
Het |
9930111J21Rik1 |
T |
A |
11: 48,839,375 (GRCm39) |
|
probably null |
Het |
Abca6 |
C |
A |
11: 110,093,205 (GRCm39) |
V1023F |
probably benign |
Het |
Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
Acsbg2 |
A |
G |
17: 57,169,914 (GRCm39) |
I151T |
possibly damaging |
Het |
Arid1a |
G |
A |
4: 133,448,168 (GRCm39) |
S115L |
probably benign |
Het |
B4galnt2 |
T |
C |
11: 95,759,252 (GRCm39) |
D344G |
probably damaging |
Het |
Ccnjl |
T |
C |
11: 43,474,055 (GRCm39) |
V210A |
possibly damaging |
Het |
Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
A |
T |
1: 139,702,213 (GRCm39) |
|
probably null |
Het |
Cog4 |
T |
C |
8: 111,593,242 (GRCm39) |
V451A |
probably damaging |
Het |
Crb1 |
A |
T |
1: 139,170,752 (GRCm39) |
N818K |
probably damaging |
Het |
Crtc1 |
T |
C |
8: 70,855,164 (GRCm39) |
D152G |
probably damaging |
Het |
Cse1l |
T |
A |
2: 166,768,323 (GRCm39) |
I207N |
possibly damaging |
Het |
Cux1 |
TGGCAGGCGCG |
TG |
5: 136,303,815 (GRCm39) |
|
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,947,235 (GRCm39) |
Y272C |
possibly damaging |
Het |
Cyp4f16 |
T |
C |
17: 32,769,724 (GRCm39) |
F445L |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,051,799 (GRCm39) |
H644R |
probably benign |
Het |
Ecm2 |
A |
T |
13: 49,684,821 (GRCm39) |
I643F |
probably damaging |
Het |
Eogt |
A |
T |
6: 97,097,108 (GRCm39) |
|
probably benign |
Het |
Fbxo41 |
A |
C |
6: 85,452,176 (GRCm39) |
S777A |
probably benign |
Het |
Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,271,250 (GRCm39) |
V897D |
probably damaging |
Het |
Fmn1 |
G |
T |
2: 113,414,465 (GRCm39) |
|
probably null |
Het |
Frem3 |
T |
C |
8: 81,339,912 (GRCm39) |
L735P |
probably damaging |
Het |
Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
Gabpa |
T |
A |
16: 84,654,356 (GRCm39) |
D344E |
probably benign |
Het |
Gtf3a |
C |
T |
5: 146,888,723 (GRCm39) |
Q145* |
probably null |
Het |
Il36rn |
A |
T |
2: 24,170,847 (GRCm39) |
N48I |
probably damaging |
Het |
Iqca1 |
A |
G |
1: 90,017,226 (GRCm39) |
L403S |
probably benign |
Het |
Jrk |
C |
T |
15: 74,579,069 (GRCm39) |
R72Q |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
Krt12 |
T |
C |
11: 99,307,789 (GRCm39) |
D433G |
possibly damaging |
Het |
Lce1h |
A |
T |
3: 92,670,770 (GRCm39) |
S127R |
unknown |
Het |
Lrrc7 |
T |
G |
3: 157,866,642 (GRCm39) |
Y1033S |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,993 (GRCm39) |
S1358P |
probably damaging |
Het |
Mfsd1 |
T |
A |
3: 67,495,320 (GRCm39) |
|
probably null |
Het |
Mki67 |
T |
C |
7: 135,301,585 (GRCm39) |
T1150A |
probably damaging |
Het |
Nadk2 |
A |
G |
15: 9,098,946 (GRCm39) |
I291M |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,955,491 (GRCm39) |
T277A |
probably benign |
Het |
Or1j12 |
A |
C |
2: 36,343,211 (GRCm39) |
M205L |
probably benign |
Het |
Or2r2 |
A |
G |
6: 42,464,031 (GRCm39) |
V32A |
probably benign |
Het |
Or6e1 |
T |
A |
14: 54,520,086 (GRCm39) |
T89S |
probably benign |
Het |
Or7g17 |
A |
T |
9: 18,768,862 (GRCm39) |
I305F |
probably benign |
Het |
Parp14 |
T |
A |
16: 35,677,697 (GRCm39) |
Y757F |
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,709,113 (GRCm39) |
Y734C |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,620,726 (GRCm39) |
S849P |
probably benign |
Het |
Pds5a |
T |
C |
5: 65,801,463 (GRCm39) |
K595E |
probably damaging |
Het |
Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
Prr5 |
G |
T |
15: 84,624,967 (GRCm39) |
L46F |
probably benign |
Het |
Ptgdr |
G |
T |
14: 45,096,253 (GRCm39) |
P153Q |
probably damaging |
Het |
Rbm12b2 |
T |
C |
4: 12,094,805 (GRCm39) |
S555P |
probably damaging |
Het |
Rhog |
T |
G |
7: 101,889,357 (GRCm39) |
Y32S |
probably damaging |
Het |
Rnf141 |
T |
C |
7: 110,415,975 (GRCm39) |
T209A |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,837,757 (GRCm39) |
I103T |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,379,737 (GRCm39) |
C182* |
probably null |
Het |
Sema3a |
A |
G |
5: 13,501,208 (GRCm39) |
N84D |
probably benign |
Het |
Sema5a |
G |
T |
15: 32,550,436 (GRCm39) |
M158I |
possibly damaging |
Het |
Shprh |
T |
A |
10: 11,040,301 (GRCm39) |
D71E |
probably benign |
Het |
Slc26a8 |
A |
G |
17: 28,882,608 (GRCm39) |
I239T |
probably benign |
Het |
Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
Ston1 |
C |
T |
17: 88,943,122 (GRCm39) |
A176V |
probably damaging |
Het |
Sult2a5 |
T |
C |
7: 13,357,976 (GRCm39) |
S3P |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,545,158 (GRCm39) |
V1007E |
probably damaging |
Het |
Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
Tas2r124 |
A |
G |
6: 132,732,156 (GRCm39) |
Y155C |
probably damaging |
Het |
Tenm3 |
G |
A |
8: 48,688,856 (GRCm39) |
R2244W |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,668,868 (GRCm39) |
I1130T |
possibly damaging |
Het |
Tlk1 |
A |
T |
2: 70,551,915 (GRCm39) |
Y585* |
probably null |
Het |
Tmem221 |
C |
T |
8: 72,007,784 (GRCm39) |
E214K |
probably benign |
Het |
Tmem38a |
T |
C |
8: 73,335,077 (GRCm39) |
V172A |
possibly damaging |
Het |
Tspo2 |
C |
T |
17: 48,755,705 (GRCm39) |
A146T |
possibly damaging |
Het |
Ttc3 |
G |
A |
16: 94,255,374 (GRCm39) |
A1268T |
probably damaging |
Het |
Usp25 |
T |
A |
16: 76,847,355 (GRCm39) |
D154E |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,401,999 (GRCm39) |
F2410L |
probably benign |
Het |
Vmn1r128 |
T |
A |
7: 21,083,939 (GRCm39) |
H214Q |
possibly damaging |
Het |
Vmn1r24 |
A |
C |
6: 57,933,421 (GRCm39) |
C32W |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,855 (GRCm39) |
H177L |
probably damaging |
Het |
Znrf1 |
T |
C |
8: 112,264,198 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ccdc40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01538:Ccdc40
|
APN |
11 |
119,133,545 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01864:Ccdc40
|
APN |
11 |
119,133,911 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01911:Ccdc40
|
APN |
11 |
119,122,797 (GRCm39) |
splice site |
probably null |
|
IGL02640:Ccdc40
|
APN |
11 |
119,128,904 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03278:Ccdc40
|
APN |
11 |
119,133,336 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03054:Ccdc40
|
UTSW |
11 |
119,154,027 (GRCm39) |
missense |
possibly damaging |
0.69 |
PIT4151001:Ccdc40
|
UTSW |
11 |
119,133,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:Ccdc40
|
UTSW |
11 |
119,155,125 (GRCm39) |
missense |
probably benign |
0.00 |
R0140:Ccdc40
|
UTSW |
11 |
119,155,125 (GRCm39) |
missense |
probably benign |
0.00 |
R0415:Ccdc40
|
UTSW |
11 |
119,122,944 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0617:Ccdc40
|
UTSW |
11 |
119,133,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Ccdc40
|
UTSW |
11 |
119,122,629 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1531:Ccdc40
|
UTSW |
11 |
119,154,015 (GRCm39) |
missense |
probably benign |
0.01 |
R1751:Ccdc40
|
UTSW |
11 |
119,121,522 (GRCm39) |
critical splice donor site |
probably null |
|
R1767:Ccdc40
|
UTSW |
11 |
119,121,522 (GRCm39) |
critical splice donor site |
probably null |
|
R1870:Ccdc40
|
UTSW |
11 |
119,150,730 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1971:Ccdc40
|
UTSW |
11 |
119,153,901 (GRCm39) |
splice site |
probably null |
|
R2106:Ccdc40
|
UTSW |
11 |
119,155,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R2370:Ccdc40
|
UTSW |
11 |
119,153,943 (GRCm39) |
missense |
probably benign |
0.00 |
R3421:Ccdc40
|
UTSW |
11 |
119,125,605 (GRCm39) |
missense |
probably benign |
0.02 |
R3746:Ccdc40
|
UTSW |
11 |
119,155,252 (GRCm39) |
missense |
probably benign |
0.26 |
R3749:Ccdc40
|
UTSW |
11 |
119,155,252 (GRCm39) |
missense |
probably benign |
0.26 |
R3871:Ccdc40
|
UTSW |
11 |
119,155,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4508:Ccdc40
|
UTSW |
11 |
119,133,335 (GRCm39) |
missense |
probably damaging |
0.98 |
R4613:Ccdc40
|
UTSW |
11 |
119,122,358 (GRCm39) |
missense |
probably benign |
0.09 |
R4663:Ccdc40
|
UTSW |
11 |
119,122,332 (GRCm39) |
missense |
probably benign |
0.01 |
R4787:Ccdc40
|
UTSW |
11 |
119,144,447 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5237:Ccdc40
|
UTSW |
11 |
119,150,802 (GRCm39) |
missense |
probably benign |
0.00 |
R5661:Ccdc40
|
UTSW |
11 |
119,128,753 (GRCm39) |
missense |
probably benign |
0.13 |
R5678:Ccdc40
|
UTSW |
11 |
119,122,398 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5805:Ccdc40
|
UTSW |
11 |
119,136,906 (GRCm39) |
critical splice donor site |
probably null |
|
R5830:Ccdc40
|
UTSW |
11 |
119,133,572 (GRCm39) |
missense |
probably benign |
0.00 |
R5895:Ccdc40
|
UTSW |
11 |
119,144,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R5932:Ccdc40
|
UTSW |
11 |
119,141,838 (GRCm39) |
missense |
probably damaging |
0.98 |
R6034:Ccdc40
|
UTSW |
11 |
119,133,898 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6034:Ccdc40
|
UTSW |
11 |
119,133,898 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6109:Ccdc40
|
UTSW |
11 |
119,122,804 (GRCm39) |
missense |
probably benign |
|
R6166:Ccdc40
|
UTSW |
11 |
119,122,827 (GRCm39) |
missense |
probably benign |
|
R6336:Ccdc40
|
UTSW |
11 |
119,122,819 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6569:Ccdc40
|
UTSW |
11 |
119,133,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R6884:Ccdc40
|
UTSW |
11 |
119,133,565 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7022:Ccdc40
|
UTSW |
11 |
119,122,612 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7212:Ccdc40
|
UTSW |
11 |
119,155,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R7472:Ccdc40
|
UTSW |
11 |
119,153,974 (GRCm39) |
missense |
probably benign |
0.30 |
R7522:Ccdc40
|
UTSW |
11 |
119,123,047 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7888:Ccdc40
|
UTSW |
11 |
119,119,967 (GRCm39) |
missense |
unknown |
|
R8041:Ccdc40
|
UTSW |
11 |
119,122,507 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8117:Ccdc40
|
UTSW |
11 |
119,144,211 (GRCm39) |
missense |
probably benign |
0.00 |
R8162:Ccdc40
|
UTSW |
11 |
119,150,870 (GRCm39) |
critical splice donor site |
probably null |
|
R8514:Ccdc40
|
UTSW |
11 |
119,121,459 (GRCm39) |
missense |
unknown |
|
R8725:Ccdc40
|
UTSW |
11 |
119,155,323 (GRCm39) |
missense |
probably benign |
|
R8727:Ccdc40
|
UTSW |
11 |
119,155,323 (GRCm39) |
missense |
probably benign |
|
R8799:Ccdc40
|
UTSW |
11 |
119,155,292 (GRCm39) |
missense |
probably benign |
0.00 |
R8877:Ccdc40
|
UTSW |
11 |
119,153,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R9304:Ccdc40
|
UTSW |
11 |
119,122,597 (GRCm39) |
missense |
probably benign |
0.06 |
S24628:Ccdc40
|
UTSW |
11 |
119,122,944 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1176:Ccdc40
|
UTSW |
11 |
119,142,834 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ccdc40
|
UTSW |
11 |
119,145,224 (GRCm39) |
missense |
probably benign |
0.16 |
Z1177:Ccdc40
|
UTSW |
11 |
119,128,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGGGGAAGCCATCTCTGAAG -3'
(R):5'- TTCCAGTGGATTCAACTTCCG -3'
Sequencing Primer
(F):5'- TCTCTGAAGGAGAAGTGGGGTCC -3'
(R):5'- AACTTCCGCTTGGGGTCTGAC -3'
|
Posted On |
2016-03-17 |