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? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R4663 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119122332 bp (GRCm39)
|
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 |
Aqr |
A |
T |
2: 113,992,147 (GRCm39) |
Y76* |
probably null |
Het |
Armc5 |
C |
A |
7: 127,837,717 (GRCm39) |
A140E |
probably benign |
Het |
Auts2 |
T |
C |
5: 131,468,476 (GRCm39) |
H947R |
probably damaging |
Het |
Bag2 |
T |
C |
1: 33,786,074 (GRCm39) |
T83A |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bean1 |
A |
G |
8: 104,937,799 (GRCm39) |
Y126C |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,129,697 (GRCm39) |
E330G |
probably damaging |
Het |
Cd320 |
G |
A |
17: 34,067,152 (GRCm39) |
G214R |
probably null |
Het |
Ckm |
G |
A |
7: 19,153,419 (GRCm39) |
V237M |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,247,939 (GRCm39) |
V1496A |
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,793,960 (GRCm39) |
V565A |
possibly damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,182,853 (GRCm39) |
V338A |
probably benign |
Het |
Eddm13 |
T |
G |
7: 6,261,624 (GRCm39) |
I35S |
possibly damaging |
Het |
Ephb6 |
A |
G |
6: 41,594,799 (GRCm39) |
Y638C |
probably damaging |
Het |
Fat2 |
G |
C |
11: 55,187,039 (GRCm39) |
S1269* |
probably null |
Het |
Fbxo3 |
T |
C |
2: 103,883,820 (GRCm39) |
V348A |
probably damaging |
Het |
Gas6 |
G |
A |
8: 13,520,254 (GRCm39) |
P478L |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,340,660 (GRCm39) |
S1670P |
probably damaging |
Het |
Hnrnpk |
C |
A |
13: 58,542,331 (GRCm39) |
R281L |
probably damaging |
Het |
Ifih1 |
C |
A |
2: 62,439,563 (GRCm39) |
C488F |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,441,559 (GRCm39) |
K192E |
probably benign |
Het |
Ighv5-9 |
T |
A |
12: 113,625,440 (GRCm39) |
Q101L |
probably benign |
Het |
Igkv3-2 |
G |
T |
6: 70,675,863 (GRCm39) |
M57I |
probably benign |
Het |
Insyn2a |
A |
T |
7: 134,500,877 (GRCm39) |
Y409* |
probably null |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
L3mbtl3 |
T |
C |
10: 26,213,715 (GRCm39) |
Y237C |
unknown |
Het |
Lats1 |
G |
A |
10: 7,588,347 (GRCm39) |
C988Y |
probably damaging |
Het |
Lgals3 |
T |
A |
14: 47,619,079 (GRCm39) |
|
probably null |
Het |
Lrrc3b |
G |
T |
14: 15,358,220 (GRCm38) |
H129N |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 102,899,273 (GRCm39) |
H1656R |
possibly damaging |
Het |
Lypd6 |
T |
G |
2: 50,063,623 (GRCm39) |
Y43* |
probably null |
Het |
Mettl25b |
A |
G |
3: 87,835,055 (GRCm39) |
S82P |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
Msi1 |
G |
A |
5: 115,588,334 (GRCm39) |
R284Q |
probably damaging |
Het |
Mybpc2 |
T |
C |
7: 44,155,066 (GRCm39) |
E947G |
probably damaging |
Het |
Nat14 |
T |
A |
7: 4,927,446 (GRCm39) |
L206Q |
probably damaging |
Het |
Nup88 |
A |
T |
11: 70,856,672 (GRCm39) |
|
probably null |
Het |
Or11g27 |
A |
T |
14: 50,771,061 (GRCm39) |
Y64F |
probably damaging |
Het |
Or4k15 |
A |
G |
14: 50,364,939 (GRCm39) |
R302G |
probably benign |
Het |
Or8g19 |
A |
T |
9: 39,056,145 (GRCm39) |
I250F |
probably damaging |
Het |
Pdcl |
T |
C |
2: 37,245,778 (GRCm39) |
E75G |
probably damaging |
Het |
Phf14 |
A |
G |
6: 11,953,421 (GRCm39) |
I387V |
possibly damaging |
Het |
Phf3 |
G |
A |
1: 30,860,296 (GRCm39) |
R845W |
probably damaging |
Het |
Pm20d1 |
T |
C |
1: 131,726,340 (GRCm39) |
I59T |
probably damaging |
Het |
Prkd1 |
C |
T |
12: 50,466,631 (GRCm39) |
|
probably null |
Het |
Psmb2 |
T |
C |
4: 126,571,558 (GRCm39) |
L4P |
probably damaging |
Het |
Pttg1 |
T |
A |
11: 43,315,677 (GRCm39) |
K46* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,764,395 (GRCm39) |
H1401R |
possibly damaging |
Het |
Septin4 |
T |
A |
11: 87,458,429 (GRCm39) |
Y268N |
probably damaging |
Het |
Sh3d19 |
G |
A |
3: 86,030,570 (GRCm39) |
D696N |
probably benign |
Het |
Slc16a2 |
T |
C |
X: 102,751,585 (GRCm39) |
T274A |
probably benign |
Het |
Slc26a6 |
G |
A |
9: 108,735,106 (GRCm39) |
A335T |
probably damaging |
Het |
Slc49a3 |
T |
C |
5: 108,590,011 (GRCm39) |
M464V |
probably benign |
Het |
Slc6a5 |
C |
A |
7: 49,588,146 (GRCm39) |
Y493* |
probably null |
Het |
Slf1 |
A |
T |
13: 77,274,723 (GRCm39) |
S37R |
probably damaging |
Het |
Smoc1 |
G |
A |
12: 81,214,376 (GRCm39) |
G264S |
probably damaging |
Het |
Snapc4 |
T |
C |
2: 26,264,193 (GRCm39) |
E280G |
possibly damaging |
Het |
Snx25 |
G |
A |
8: 46,488,616 (GRCm39) |
T913M |
probably damaging |
Het |
Snx7 |
T |
C |
3: 117,594,528 (GRCm39) |
T408A |
probably benign |
Het |
Spdya |
T |
A |
17: 71,885,339 (GRCm39) |
S264R |
probably benign |
Het |
Spg11 |
A |
T |
2: 121,928,580 (GRCm39) |
|
probably null |
Het |
Suz12 |
T |
A |
11: 79,904,350 (GRCm39) |
L230Q |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,234,881 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
C |
A |
8: 48,689,005 (GRCm39) |
R2194L |
probably damaging |
Het |
Tmed8 |
T |
A |
12: 87,221,005 (GRCm39) |
I194F |
probably damaging |
Het |
Tmem79 |
T |
A |
3: 88,240,751 (GRCm39) |
T66S |
probably damaging |
Het |
Trappc1 |
T |
A |
11: 69,216,337 (GRCm39) |
S118T |
probably benign |
Het |
Ttn |
C |
T |
2: 76,569,225 (GRCm39) |
V27223I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,606,839 (GRCm39) |
T18024A |
probably damaging |
Het |
Vmn2r15 |
C |
T |
5: 109,441,940 (GRCm39) |
M164I |
probably benign |
Het |
Vmn2r53 |
T |
A |
7: 12,334,901 (GRCm39) |
Y253F |
probably benign |
Het |
Zfand6 |
C |
T |
7: 84,267,093 (GRCm39) |
R163H |
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 |
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 |
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'- CATGCTTGTAACACGTGCC -3'
(R):5'- TTCCACATCTGTGTCTGGAGC -3'
Sequencing Primer
(F):5'- GCTTGTAACACGTGCCTCTAGAAAG -3'
(R):5'- GAGCGGTCTCTCCAATGAATTC -3'
|
Posted On |
2015-10-08 |