Incidental Mutation 'R6034:Ccdc40'
| ID |
480570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
044206-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6034 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119133898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 556
(M556V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035935]
[ENSMUST00000053440]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035935
AA Change: M556V
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: M556V
| 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 |
possibly damaging
Transcript: ENSMUST00000053440
AA Change: M626V
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: M626V
| 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: ENSMUST00000143066
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.4%
- 20x: 87.0%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
G |
T |
1: 34,760,984 (GRCm39) |
G80V |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Atad2 |
A |
T |
15: 57,971,959 (GRCm39) |
L306Q |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,659,645 (GRCm39) |
|
probably null |
Het |
| Atp6v1c2 |
C |
A |
12: 17,357,501 (GRCm39) |
G95V |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,922,278 (GRCm39) |
V2192E |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,542,091 (GRCm39) |
E597G |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,985,354 (GRCm39) |
R587K |
probably benign |
Het |
| Cdipt |
T |
G |
7: 126,577,497 (GRCm39) |
V81G |
probably damaging |
Het |
| Cert1 |
A |
C |
13: 96,746,308 (GRCm39) |
I236L |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,090,869 (GRCm39) |
K40E |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,196,872 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,496,418 (GRCm39) |
D101V |
probably benign |
Het |
| Fastkd3 |
T |
A |
13: 68,731,729 (GRCm39) |
W17R |
probably damaging |
Het |
| H1f4 |
A |
G |
13: 23,806,296 (GRCm39) |
L62P |
probably damaging |
Het |
| H2-Ob |
T |
C |
17: 34,460,192 (GRCm39) |
V30A |
probably damaging |
Het |
| Hmgxb3 |
T |
A |
18: 61,265,594 (GRCm39) |
H1128L |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,680,711 (GRCm39) |
I255N |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,482,537 (GRCm39) |
D91G |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,944,666 (GRCm39) |
D462E |
possibly damaging |
Het |
| Kcnip4 |
G |
T |
5: 48,548,283 (GRCm39) |
R241S |
possibly damaging |
Het |
| Lilra5 |
T |
C |
7: 4,245,133 (GRCm39) |
L259P |
probably benign |
Het |
| Lipf |
T |
C |
19: 33,942,289 (GRCm39) |
I73T |
probably benign |
Het |
| Lsm7 |
T |
C |
10: 80,688,742 (GRCm39) |
|
probably null |
Het |
| Luzp2 |
T |
A |
7: 54,816,972 (GRCm39) |
L141M |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,850,137 (GRCm39) |
V1252E |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,399,205 (GRCm39) |
L866P |
probably damaging |
Het |
| Mink1 |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 70,497,866 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,460 (GRCm39) |
I355V |
possibly damaging |
Het |
| Mtrf1l |
T |
A |
10: 5,773,834 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,163,187 (GRCm39) |
T339S |
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,350,242 (GRCm39) |
D163G |
probably damaging |
Het |
| Oosp2 |
A |
G |
19: 11,628,879 (GRCm39) |
F74S |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4f7 |
T |
A |
2: 111,644,702 (GRCm39) |
Y123F |
probably damaging |
Het |
| Pard3 |
C |
G |
8: 127,791,077 (GRCm39) |
|
probably benign |
Het |
| Pcdha1 |
T |
A |
18: 37,063,651 (GRCm39) |
I105N |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,895,601 (GRCm39) |
T224A |
possibly damaging |
Het |
| Phf12 |
A |
G |
11: 77,908,895 (GRCm39) |
N325S |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,201,750 (GRCm39) |
|
probably null |
Het |
| Raet1e |
A |
G |
10: 22,057,990 (GRCm39) |
*252W |
probably null |
Het |
| Sap130 |
T |
C |
18: 31,822,459 (GRCm39) |
V655A |
possibly damaging |
Het |
| Sec16b |
A |
T |
1: 157,380,509 (GRCm39) |
K360I |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,351,927 (GRCm39) |
T101I |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,983,546 (GRCm39) |
K529R |
probably benign |
Het |
| Slc22a15 |
A |
G |
3: 101,770,235 (GRCm39) |
F451L |
possibly damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,982 (GRCm39) |
S339T |
probably benign |
Het |
| Stard13 |
A |
T |
5: 151,018,965 (GRCm39) |
|
probably null |
Het |
| Synm |
A |
G |
7: 67,384,653 (GRCm39) |
V561A |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,617,460 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
T |
A |
5: 87,229,377 (GRCm39) |
D236V |
probably damaging |
Het |
| Vmn1r65 |
A |
G |
7: 6,011,868 (GRCm39) |
L122P |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,737,632 (GRCm39) |
S40P |
probably benign |
Het |
| Zc3hav1l |
C |
A |
6: 38,272,215 (GRCm39) |
G185C |
probably damaging |
Het |
| Zfp563 |
G |
A |
17: 33,323,935 (GRCm39) |
A177T |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation