Incidental Mutation 'R7022:Ccdc40'
| ID |
545709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
045123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R7022 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119122612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 138
(E138G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000035935
AA Change: E68G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: E68G
| 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: E138G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: E138G
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,974,326 (GRCm39) |
S203T |
probably damaging |
Het |
| Adat1 |
A |
T |
8: 112,716,494 (GRCm39) |
M76K |
probably damaging |
Het |
| Ankrd33 |
G |
C |
15: 101,014,780 (GRCm39) |
V56L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,592,725 (GRCm39) |
L1134I |
possibly damaging |
Het |
| C3 |
T |
G |
17: 57,524,286 (GRCm39) |
D948A |
probably damaging |
Het |
| Ccdc121rt3 |
A |
C |
5: 112,503,395 (GRCm39) |
M103R |
probably benign |
Het |
| Cd80 |
A |
G |
16: 38,306,866 (GRCm39) |
|
probably null |
Het |
| Cdca7 |
T |
A |
2: 72,309,873 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,079,030 (GRCm39) |
S447G |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,205,786 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
A |
T |
19: 46,750,989 (GRCm39) |
I260F |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,847,379 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
C |
6: 4,534,639 (GRCm39) |
L881P |
unknown |
Het |
| Crebbp |
A |
T |
16: 3,935,187 (GRCm39) |
S901T |
probably damaging |
Het |
| Dcun1d2 |
T |
C |
8: 13,321,637 (GRCm39) |
Y158C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,005 (GRCm39) |
P4477S |
probably benign |
Het |
| Donson |
A |
G |
16: 91,478,218 (GRCm39) |
Y428H |
probably damaging |
Het |
| Dsp |
G |
T |
13: 38,375,716 (GRCm39) |
W1167L |
probably benign |
Het |
| Elmo2 |
C |
T |
2: 165,136,961 (GRCm39) |
V592M |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,702,093 (GRCm39) |
E60D |
probably damaging |
Het |
| Erfl |
A |
T |
7: 24,631,089 (GRCm39) |
|
probably null |
Het |
| Fam83b |
TAAGA |
T |
9: 76,409,394 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
G |
18: 62,669,295 (GRCm39) |
C52R |
probably damaging |
Het |
| Gm10912 |
T |
C |
2: 103,897,055 (GRCm39) |
W65R |
probably damaging |
Het |
| Gm43518 |
A |
T |
5: 124,074,490 (GRCm39) |
M44L |
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,637,913 (GRCm39) |
D212E |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,299,620 (GRCm39) |
N597S |
probably damaging |
Het |
| Gprin1 |
T |
G |
13: 54,886,855 (GRCm39) |
E473A |
probably benign |
Het |
| Ighv1-69 |
T |
A |
12: 115,586,834 (GRCm39) |
M100L |
probably benign |
Het |
| Igkv14-100 |
T |
C |
6: 68,496,193 (GRCm39) |
S29P |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,951,786 (GRCm39) |
V232A |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,270,379 (GRCm39) |
L376P |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,132,920 (GRCm39) |
Y119* |
probably null |
Het |
| Kif1a |
T |
G |
1: 92,993,820 (GRCm39) |
T377P |
probably benign |
Het |
| Lama5 |
C |
A |
2: 179,822,524 (GRCm39) |
V2850L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,552 (GRCm39) |
Y2393C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,356,763 (GRCm39) |
Q255* |
probably null |
Het |
| Msh3 |
A |
C |
13: 92,372,096 (GRCm39) |
D891E |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,957,335 (GRCm39) |
N2D |
possibly damaging |
Het |
| Myo19 |
T |
C |
11: 84,791,373 (GRCm39) |
L476P |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,467,686 (GRCm39) |
R501W |
probably damaging |
Het |
| Nfasc |
C |
A |
1: 132,548,787 (GRCm39) |
K293N |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,319 (GRCm39) |
L65Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,401,825 (GRCm39) |
D34E |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,220,871 (GRCm39) |
V1891D |
probably benign |
Het |
| Or51g2 |
T |
A |
7: 102,623,175 (GRCm39) |
N8I |
possibly damaging |
Het |
| Or5g29 |
T |
A |
2: 85,420,942 (GRCm39) |
D19E |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,482 (GRCm39) |
N19S |
probably benign |
Het |
| Or8g22 |
G |
T |
9: 38,958,379 (GRCm39) |
C156* |
probably null |
Het |
| Oscp1 |
G |
A |
4: 125,976,783 (GRCm39) |
|
probably null |
Het |
| Pcdhgb7 |
A |
G |
18: 37,886,086 (GRCm39) |
T419A |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,281,121 (GRCm39) |
D387G |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,990 (GRCm39) |
F56S |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,061 (GRCm39) |
E59G |
possibly damaging |
Het |
| Prickle1 |
G |
T |
15: 93,398,752 (GRCm39) |
T692K |
possibly damaging |
Het |
| Rbm45 |
T |
A |
2: 76,206,738 (GRCm39) |
L250Q |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,265,108 (GRCm39) |
M194K |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,799,722 (GRCm39) |
|
probably null |
Het |
| Rundc3b |
T |
C |
5: 8,562,348 (GRCm39) |
K340R |
probably null |
Het |
| Scn1a |
T |
A |
2: 66,148,243 (GRCm39) |
T1101S |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,080,412 (GRCm39) |
|
probably null |
Het |
| Skic2 |
A |
G |
17: 35,064,183 (GRCm39) |
F501S |
possibly damaging |
Het |
| Slc20a1 |
T |
A |
2: 129,041,979 (GRCm39) |
M114K |
probably damaging |
Het |
| Sorl1 |
A |
C |
9: 41,881,047 (GRCm39) |
I2158S |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,534,111 (GRCm39) |
F174L |
probably benign |
Het |
| Sucnr1 |
A |
T |
3: 59,993,699 (GRCm39) |
I76L |
probably benign |
Het |
| Syt17 |
C |
T |
7: 118,007,242 (GRCm39) |
V412I |
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,346,850 (GRCm39) |
H18L |
probably benign |
Het |
| Tpp1 |
T |
G |
7: 105,398,129 (GRCm39) |
K345Q |
probably damaging |
Het |
| Trcg1 |
G |
A |
9: 57,148,852 (GRCm39) |
M141I |
possibly damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,499,742 (GRCm39) |
N260S |
probably benign |
Het |
| Vps41 |
C |
A |
13: 19,026,438 (GRCm39) |
T512K |
possibly damaging |
Het |
| Vps52 |
A |
T |
17: 34,178,293 (GRCm39) |
M147L |
probably benign |
Het |
| Ywhaq |
A |
G |
12: 21,441,752 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,184,387 (GRCm39) |
N139S |
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 |
|
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'- ATGGGGAAGCCATCTCTGAAG -3'
(R):5'- AGCTCTTCCAGTGGATTCAAC -3'
Sequencing Primer
(F):5'- TCTCTGAAGGAGAAGTGGGGTCC -3'
(R):5'- AACTTCCGCTTGGGGTCTGAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation