Incidental Mutation 'R7522:Ccdc40'
| ID |
582739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
045594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R7522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 119123047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 213
(I213R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035935]
[ENSMUST00000036113]
[ENSMUST00000053440]
[ENSMUST00000207655]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035935
AA Change: I213R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: I213R
| 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: I283R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: I283R
| 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: ENSMUST00000207655
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (75/77) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030014E15Rik |
G |
T |
1: 82,902,949 (GRCm39) |
C82F |
unknown |
Het |
| Adam21 |
G |
C |
12: 81,605,722 (GRCm39) |
T680R |
possibly damaging |
Het |
| Adgrf4 |
A |
C |
17: 42,980,675 (GRCm39) |
Y137D |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,257,600 (GRCm39) |
K477R |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,686 (GRCm39) |
D323E |
probably benign |
Het |
| Amph |
A |
G |
13: 19,270,715 (GRCm39) |
D108G |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,682,910 (GRCm39) |
C106S |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,683,384 (GRCm39) |
T4S |
probably benign |
Het |
| Brix1 |
G |
A |
15: 10,476,676 (GRCm39) |
R267C |
probably damaging |
Het |
| Calcrl |
G |
A |
2: 84,203,708 (GRCm39) |
S24L |
probably benign |
Het |
| Cd300lg |
A |
G |
11: 101,945,028 (GRCm39) |
I413V |
probably benign |
Het |
| Cdh3 |
G |
A |
8: 107,268,005 (GRCm39) |
D347N |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,394,446 (GRCm39) |
T55A |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,055,195 (GRCm39) |
T260A |
probably damaging |
Het |
| Cpne8 |
G |
T |
15: 90,486,022 (GRCm39) |
P147Q |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,203,734 (GRCm39) |
Y74H |
unknown |
Het |
| Cryl1 |
A |
T |
14: 57,513,428 (GRCm39) |
S264R |
probably benign |
Het |
| Cyp39a1 |
C |
T |
17: 43,978,370 (GRCm39) |
|
probably benign |
Het |
| Cyp4f39 |
T |
C |
17: 32,705,946 (GRCm39) |
S346P |
probably damaging |
Het |
| Cyria |
A |
G |
12: 12,408,057 (GRCm39) |
T28A |
possibly damaging |
Het |
| Ddhd1 |
G |
A |
14: 45,895,104 (GRCm39) |
A122V |
possibly damaging |
Het |
| Dnmt1 |
C |
A |
9: 20,831,498 (GRCm39) |
C662F |
probably damaging |
Het |
| E2f6 |
G |
A |
12: 16,872,125 (GRCm39) |
G190S |
probably benign |
Het |
| Esp34 |
A |
T |
17: 38,870,432 (GRCm39) |
I109F |
possibly damaging |
Het |
| Espl1 |
A |
T |
15: 102,213,486 (GRCm39) |
D604V |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,728,870 (GRCm39) |
C645R |
probably benign |
Het |
| Fah |
A |
G |
7: 84,246,282 (GRCm39) |
V189A |
probably benign |
Het |
| Fam184b |
A |
C |
5: 45,688,093 (GRCm39) |
Y939D |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,908,829 (GRCm39) |
L410* |
probably null |
Het |
| Gak |
A |
T |
5: 108,739,065 (GRCm39) |
I665N |
possibly damaging |
Het |
| Galnt9 |
A |
G |
5: 110,743,705 (GRCm39) |
|
probably null |
Het |
| Gcg |
T |
C |
2: 62,306,103 (GRCm39) |
R165G |
probably benign |
Het |
| Hexd |
T |
C |
11: 121,108,923 (GRCm39) |
V214A |
possibly damaging |
Het |
| Hoxb3 |
A |
T |
11: 96,235,507 (GRCm39) |
S145C |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,486,640 (GRCm39) |
Y23C |
probably damaging |
Het |
| Itgav |
A |
T |
2: 83,632,373 (GRCm39) |
I954F |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,126,600 (GRCm39) |
R445G |
probably damaging |
Het |
| Kyat3 |
T |
A |
3: 142,440,305 (GRCm39) |
L343Q |
probably damaging |
Het |
| Lgals4 |
A |
T |
7: 28,537,117 (GRCm39) |
D139V |
possibly damaging |
Het |
| Lrp3 |
C |
T |
7: 34,903,755 (GRCm39) |
G197D |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,821,668 (GRCm39) |
C1347* |
probably null |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,480,219 (GRCm39) |
Q661R |
probably benign |
Het |
| Marcks |
A |
C |
10: 37,012,577 (GRCm39) |
F153V |
unknown |
Het |
| Mocs1 |
T |
C |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
| Naa60 |
A |
G |
16: 3,719,768 (GRCm39) |
T232A |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,666,065 (GRCm39) |
I75N |
probably benign |
Het |
| Opn3 |
A |
G |
1: 175,493,189 (GRCm39) |
V125A |
probably benign |
Het |
| Or2ag18 |
A |
G |
7: 106,404,994 (GRCm39) |
V225A |
probably damaging |
Het |
| Or2f1 |
T |
A |
6: 42,721,568 (GRCm39) |
I199N |
probably damaging |
Het |
| Or4c102 |
A |
G |
2: 88,423,005 (GRCm39) |
T286A |
possibly damaging |
Het |
| Or7g27 |
T |
A |
9: 19,250,294 (GRCm39) |
C179* |
probably null |
Het |
| Palb2 |
T |
C |
7: 121,712,501 (GRCm39) |
T947A |
probably damaging |
Het |
| Pde5a |
C |
T |
3: 122,634,648 (GRCm39) |
R730* |
probably null |
Het |
| Plcl1 |
T |
C |
1: 55,735,523 (GRCm39) |
I288T |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,977 (GRCm39) |
I966T |
probably benign |
Het |
| Prkcz |
T |
C |
4: 155,355,742 (GRCm39) |
E400G |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,400,102 (GRCm39) |
D2332G |
possibly damaging |
Het |
| Ptgds |
T |
G |
2: 25,357,920 (GRCm39) |
T154P |
probably benign |
Het |
| Rel |
T |
C |
11: 23,720,676 (GRCm39) |
|
probably null |
Het |
| Rxylt1 |
A |
G |
10: 121,917,344 (GRCm39) |
W390R |
probably damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,066,200 (GRCm39) |
K248N |
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,046,583 (GRCm39) |
W394G |
possibly damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,193,076 (GRCm39) |
V559A |
probably benign |
Het |
| Sox6 |
A |
T |
7: 115,400,813 (GRCm39) |
F10I |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,837,259 (GRCm39) |
V303A |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,289,803 (GRCm39) |
|
probably null |
Het |
| Tet1 |
T |
C |
10: 62,654,762 (GRCm39) |
T1574A |
possibly damaging |
Het |
| Tkt |
A |
T |
14: 30,290,180 (GRCm39) |
I270F |
possibly damaging |
Het |
| Trak1 |
A |
G |
9: 121,271,777 (GRCm39) |
E166G |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,849,939 (GRCm39) |
I58N |
probably damaging |
Het |
| Uhmk1 |
T |
A |
1: 170,042,809 (GRCm39) |
M1L |
probably benign |
Het |
| Usp50 |
T |
C |
2: 126,625,146 (GRCm39) |
Y21C |
probably damaging |
Het |
| Vmn1r180 |
C |
G |
7: 23,652,685 (GRCm39) |
P283A |
probably damaging |
Het |
| Vmn1r83 |
A |
G |
7: 12,055,505 (GRCm39) |
M184T |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,665 (GRCm39) |
I230T |
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 |
|
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 |
|
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'- AAGTAGAAGCCCTTCTCGATG -3'
(R):5'- CGATTCCTAACATTGGCCAGC -3'
Sequencing Primer
(F):5'- AAGTAGAAGCCCTTCTCGATGAGTTG -3'
(R):5'- GGGCTTAGCAAACCGTTTAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation