Incidental Mutation 'R5678:Ccdc40'
| ID |
442898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
043317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R5678 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119122398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 67
(S67P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000053440
AA Change: S67P
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: S67P
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,466,529 (GRCm39) |
T168A |
probably damaging |
Het |
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| A530016L24Rik |
T |
G |
12: 112,463,306 (GRCm39) |
C43W |
probably damaging |
Het |
| Aatk |
T |
C |
11: 119,900,980 (GRCm39) |
T1082A |
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,945,887 (GRCm39) |
F7I |
probably benign |
Het |
| Adgb |
T |
G |
10: 10,307,070 (GRCm39) |
S299R |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,041,494 (GRCm39) |
F738L |
possibly damaging |
Het |
| Art3 |
T |
C |
5: 92,540,409 (GRCm39) |
Y51H |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,833,540 (GRCm39) |
Q2597* |
probably null |
Het |
| Atrn |
T |
C |
2: 130,811,936 (GRCm39) |
V627A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,947,317 (GRCm39) |
K1111E |
probably damaging |
Het |
| Cd164 |
T |
C |
10: 41,395,948 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
C |
9: 15,234,154 (GRCm39) |
D2214G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,284,199 (GRCm39) |
Y589C |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,536,239 (GRCm39) |
A998V |
unknown |
Het |
| Csrnp2 |
T |
C |
15: 100,379,685 (GRCm39) |
*535W |
probably null |
Het |
| Dhrs7 |
C |
T |
12: 72,704,106 (GRCm39) |
G130D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,677,074 (GRCm39) |
T477A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,592,100 (GRCm39) |
F725S |
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,381,029 (GRCm39) |
V508A |
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,879,053 (GRCm39) |
E595G |
probably damaging |
Het |
| Epha6 |
A |
T |
16: 59,639,342 (GRCm39) |
V844E |
probably damaging |
Het |
| Esrp2 |
G |
A |
8: 106,858,750 (GRCm39) |
A629V |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,483,172 (GRCm39) |
S1009P |
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,894,706 (GRCm39) |
I28N |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,207 (GRCm39) |
E4G |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,310,855 (GRCm39) |
V455A |
probably damaging |
Het |
| Lamtor2 |
A |
G |
3: 88,458,101 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,156,855 (GRCm39) |
C92R |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,098,266 (GRCm39) |
V1406A |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,199 (GRCm39) |
V31A |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,447,625 (GRCm39) |
F304L |
probably benign |
Het |
| Or4c108 |
A |
T |
2: 88,803,317 (GRCm39) |
L306* |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,604,979 (GRCm39) |
E43G |
possibly damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,691,135 (GRCm39) |
E2G |
unknown |
Het |
| Setd2 |
A |
G |
9: 110,431,254 (GRCm39) |
T5A |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,300,249 (GRCm39) |
I40T |
probably damaging |
Het |
| Srpk2 |
TCA |
T |
5: 23,729,604 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
C |
7: 18,783,397 (GRCm39) |
|
probably null |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,933 (GRCm39) |
Q791L |
unknown |
Het |
| Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,719,319 (GRCm39) |
D1989G |
unknown |
Het |
| Utp20 |
A |
T |
10: 88,644,979 (GRCm39) |
H582Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,317,762 (GRCm39) |
I554T |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,110,425 (GRCm39) |
R372* |
probably null |
Het |
| Zfp119a |
T |
C |
17: 56,175,336 (GRCm39) |
E53G |
probably benign |
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 |
|
R4867:Ccdc40
|
UTSW |
11 |
119,122,614 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- GACACAGAACATCATCTCTTGGGG -3'
(R):5'- ATGCTCTCTCCAGTGGGTTC -3'
Sequencing Primer
(F):5'- AACATCATCTCTTGGGGGTGGG -3'
(R):5'- TCCACGTCTGTTCCTGGGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation