Incidental Mutation 'R5237:Ccdc40'
| ID |
398559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
042808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R5237 (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 119150802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1105
(V1105A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035935]
[ENSMUST00000053440]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035935
AA Change: V1035A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: V1035A
| 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: ENSMUST00000053440
AA Change: V1105A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: V1105A
| 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: ENSMUST00000125724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155683
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
100% (76/76) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,349,850 (GRCm39) |
W369* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,923,236 (GRCm39) |
M190K |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,303,906 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
A |
T |
11: 7,099,553 (GRCm39) |
I678L |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,817 (GRCm39) |
S27P |
probably benign |
Het |
| Ankrd24 |
C |
A |
10: 81,478,379 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,296,844 (GRCm39) |
V383L |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,391,730 (GRCm39) |
S684T |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,550,444 (GRCm39) |
L360P |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,607,544 (GRCm39) |
Q428L |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,295,068 (GRCm39) |
|
probably benign |
Het |
| Cpeb2 |
G |
A |
5: 43,443,099 (GRCm39) |
C930Y |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,854,393 (GRCm39) |
D103G |
probably benign |
Het |
| Cyb5a |
T |
G |
18: 84,889,689 (GRCm39) |
F39L |
probably damaging |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,207 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,486,690 (GRCm39) |
|
probably null |
Het |
| Efcab9 |
A |
T |
11: 32,472,832 (GRCm39) |
I205K |
probably benign |
Het |
| Ezh1 |
A |
G |
11: 101,107,819 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
C |
A |
15: 100,591,274 (GRCm39) |
C610F |
probably damaging |
Het |
| Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
| Gcc1 |
A |
T |
6: 28,420,651 (GRCm39) |
I222K |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,221,631 (GRCm39) |
H146L |
probably benign |
Het |
| H2-T23 |
C |
T |
17: 36,341,258 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,304,728 (GRCm39) |
I3124N |
probably benign |
Het |
| Hsf2 |
C |
A |
10: 57,382,317 (GRCm39) |
D364E |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,738,016 (GRCm39) |
T250A |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,197,487 (GRCm39) |
E372G |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,478,169 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,601,609 (GRCm39) |
Y524C |
probably damaging |
Het |
| Mfsd6l |
C |
A |
11: 68,448,096 (GRCm39) |
Q316K |
probably benign |
Het |
| Mroh6 |
T |
C |
15: 75,757,840 (GRCm39) |
T417A |
possibly damaging |
Het |
| Mymk |
T |
C |
2: 26,952,200 (GRCm39) |
*181W |
probably null |
Het |
| Nup210l |
A |
G |
3: 90,087,505 (GRCm39) |
T1093A |
probably benign |
Het |
| Or10al4 |
T |
A |
17: 38,037,268 (GRCm39) |
C118S |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,443,732 (GRCm39) |
V206A |
probably benign |
Het |
| Or52w1 |
A |
T |
7: 105,018,513 (GRCm39) |
K327* |
probably null |
Het |
| Or8b54 |
C |
T |
9: 38,687,252 (GRCm39) |
R234W |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pex26 |
T |
A |
6: 121,162,806 (GRCm39) |
L119Q |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,568,249 (GRCm39) |
I1219V |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,095,251 (GRCm39) |
V64A |
probably benign |
Het |
| Plekho1 |
A |
G |
3: 95,902,937 (GRCm39) |
V24A |
probably damaging |
Het |
| Pon2 |
A |
C |
6: 5,265,455 (GRCm39) |
S311A |
probably benign |
Het |
| Pramel31 |
G |
T |
4: 144,089,041 (GRCm39) |
E120* |
probably null |
Het |
| Rsrc2 |
T |
C |
5: 123,877,645 (GRCm39) |
|
probably benign |
Het |
| Selenov |
T |
C |
7: 27,987,572 (GRCm39) |
D295G |
probably damaging |
Het |
| Serpina10 |
T |
A |
12: 103,595,075 (GRCm39) |
Y48F |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,900,190 (GRCm39) |
D1159V |
possibly damaging |
Het |
| Setx |
C |
T |
2: 29,036,995 (GRCm39) |
T1160I |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,459,971 (GRCm39) |
|
probably null |
Het |
| Skint11 |
A |
G |
4: 114,102,042 (GRCm39) |
K352E |
possibly damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,919,118 (GRCm39) |
V914E |
possibly damaging |
Het |
| Srgap1 |
A |
G |
10: 121,643,788 (GRCm39) |
Y633H |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,529,839 (GRCm39) |
D2032G |
probably damaging |
Het |
| Sv2c |
G |
A |
13: 96,118,391 (GRCm39) |
T486I |
possibly damaging |
Het |
| Tesk1 |
T |
C |
4: 43,447,100 (GRCm39) |
F496S |
probably damaging |
Het |
| Tfg |
T |
A |
16: 56,533,071 (GRCm39) |
E29D |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,880,333 (GRCm39) |
T2038I |
probably damaging |
Het |
| Tor4a |
T |
G |
2: 25,084,976 (GRCm39) |
N309T |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,003,821 (GRCm39) |
T257A |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,790,828 (GRCm39) |
A621V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r6 |
A |
C |
6: 56,980,179 (GRCm39) |
Q258H |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,863 (GRCm39) |
C786R |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,557,953 (GRCm39) |
D638G |
probably benign |
Het |
| Zfp934 |
A |
G |
13: 62,665,652 (GRCm39) |
C330R |
probably damaging |
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 |
|
|
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'- CCAGTGTTAAAGGCAGACAAGC -3'
(R):5'- CCTGCCGACCATATGAAGTGAG -3'
Sequencing Primer
(F):5'- GCAGACAAGCCCGGAAG -3'
(R):5'- AAGGTGAACCCTAACGTGTGTCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation