Incidental Mutation 'R3749:Ccdc40'
ID |
310108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc40
|
Ensembl Gene |
ENSMUSG00000039963 |
Gene Name |
coiled-coil domain containing 40 |
Synonyms |
B930008I02Rik |
MMRRC Submission |
040734-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R3749 (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 119155252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1164
(V1164A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026666]
[ENSMUST00000035935]
[ENSMUST00000053440]
[ENSMUST00000106258]
[ENSMUST00000106259]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026666
|
SMART Domains |
Protein: ENSMUSP00000026666 Gene: ENSMUSG00000025579
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PD
|
80 |
134 |
1.08e-15 |
SMART |
Pfam:Gal_mutarotas_2
|
254 |
320 |
3.7e-12 |
PFAM |
Pfam:Glyco_hydro_31
|
340 |
825 |
8.8e-175 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035935
AA Change: V1164A
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000039463 Gene: ENSMUSG00000039963 AA Change: V1164A
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
|
SMART Domains |
Protein: ENSMUSP00000062198 Gene: ENSMUSG00000039963
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 |
probably benign
Transcript: ENSMUST00000106258
|
SMART Domains |
Protein: ENSMUSP00000101865 Gene: ENSMUSG00000025579
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PD
|
80 |
134 |
1.08e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106259
|
SMART Domains |
Protein: ENSMUSP00000101866 Gene: ENSMUSG00000025579
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PD
|
80 |
134 |
1.08e-15 |
SMART |
Pfam:NtCtMGAM_N
|
147 |
253 |
3.5e-32 |
PFAM |
Pfam:Gal_mutarotas_2
|
254 |
320 |
6.5e-12 |
PFAM |
Pfam:Glyco_hydro_31
|
340 |
825 |
1.8e-153 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126652
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133788
|
Meta Mutation Damage Score |
0.0744 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (50/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
Adam19 |
A |
T |
11: 46,028,437 (GRCm39) |
D690V |
probably benign |
Het |
Ankib1 |
G |
T |
5: 3,784,097 (GRCm39) |
P293Q |
probably damaging |
Het |
Arhgap19 |
T |
A |
19: 41,762,518 (GRCm39) |
E461V |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,445,936 (GRCm39) |
N319K |
possibly damaging |
Het |
Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
Colq |
A |
T |
14: 31,271,410 (GRCm39) |
|
probably benign |
Het |
Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
Faap24 |
A |
T |
7: 35,092,437 (GRCm39) |
V160D |
possibly damaging |
Het |
Gpc1 |
C |
A |
1: 92,785,304 (GRCm39) |
C414* |
probably null |
Het |
Igkv9-120 |
G |
A |
6: 68,026,985 (GRCm39) |
A7T |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,376,798 (GRCm39) |
C391S |
probably null |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,160 (GRCm39) |
V856A |
probably benign |
Het |
Mfsd1 |
T |
C |
3: 67,490,286 (GRCm39) |
S46P |
probably benign |
Het |
Mme |
T |
A |
3: 63,250,961 (GRCm39) |
V334E |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,474,890 (GRCm39) |
T642A |
probably benign |
Het |
Olfm1 |
C |
T |
2: 28,098,100 (GRCm39) |
T54I |
probably damaging |
Het |
Or10c1 |
G |
A |
17: 37,522,691 (GRCm39) |
R18C |
possibly damaging |
Het |
Or6c3b |
C |
T |
10: 129,527,830 (GRCm39) |
V27I |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
Patj |
A |
G |
4: 98,357,837 (GRCm39) |
Y701C |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
Scn2a |
T |
G |
2: 65,544,115 (GRCm39) |
V832G |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc25a25 |
G |
T |
2: 32,310,392 (GRCm39) |
N122K |
probably benign |
Het |
Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
Syne1 |
C |
T |
10: 5,002,267 (GRCm39) |
|
probably benign |
Het |
Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,223,466 (GRCm39) |
D114G |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
Tpi1 |
T |
A |
6: 124,789,754 (GRCm39) |
S130C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,584,350 (GRCm39) |
H22253Y |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,295,084 (GRCm39) |
V38E |
probably benign |
Het |
Vmn1r158 |
A |
C |
7: 22,489,639 (GRCm39) |
L190W |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
Wnt2 |
T |
C |
6: 18,023,167 (GRCm39) |
I161V |
probably benign |
Het |
Zdhhc25 |
C |
T |
15: 88,485,226 (GRCm39) |
S187L |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
Zkscan1 |
T |
C |
5: 138,099,703 (GRCm39) |
S476P |
probably damaging |
Het |
Zmynd8 |
A |
G |
2: 165,647,118 (GRCm39) |
Y945H |
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 |
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 |
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'- ACTTCCGAGGACAGACATAGG -3'
(R):5'- TGAATCACGTGTCTGGCCTG -3'
Sequencing Primer
(F):5'- ATAGGGTCTTTTTCCCACACAGAAC -3'
(R):5'- TGTCGCTCTAGGAGACACGTG -3'
|
Posted On |
2015-04-17 |