Incidental Mutation 'R6884:Ccdc40'
| ID |
536858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
044979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119133565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 568
(E568D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062198
(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: E498D
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: E498D
| 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: E568D
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: E568D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,407 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,220,043 (GRCm39) |
V8M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,863 (GRCm39) |
D736E |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,050,324 (GRCm39) |
D1072G |
probably benign |
Het |
| Cacna1i |
C |
T |
15: 80,259,010 (GRCm39) |
R1240C |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,547,091 (GRCm39) |
G2247E |
possibly damaging |
Het |
| Dapk3 |
T |
A |
10: 81,027,588 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
T |
C |
15: 38,986,635 (GRCm39) |
W136R |
probably damaging |
Het |
| Dip2a |
C |
A |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
| Eif3c |
T |
C |
7: 126,156,051 (GRCm39) |
D473G |
probably benign |
Het |
| Erich2 |
G |
A |
2: 70,339,505 (GRCm39) |
R20H |
possibly damaging |
Het |
| Gcnt7 |
T |
C |
2: 172,296,125 (GRCm39) |
N233S |
probably damaging |
Het |
| Gdpd4 |
G |
T |
7: 97,621,382 (GRCm39) |
L208F |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,815,932 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Gm7298 |
A |
T |
6: 121,737,480 (GRCm39) |
I295F |
possibly damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,779 (GRCm39) |
|
probably null |
Het |
| Ing1 |
A |
G |
8: 11,611,916 (GRCm39) |
Y118C |
probably damaging |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,284 (GRCm39) |
W40* |
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,467 (GRCm39) |
D51E |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,986 (GRCm39) |
Q2513L |
probably benign |
Het |
| Morf4l1 |
A |
T |
9: 89,976,532 (GRCm39) |
N265K |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,952,904 (GRCm39) |
D299G |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,745,197 (GRCm39) |
G55R |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,028,431 (GRCm39) |
K144I |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,709,875 (GRCm39) |
I587T |
possibly damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,135,374 (GRCm39) |
S288G |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,969,128 (GRCm39) |
Y2700H |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,345 (GRCm39) |
V247A |
probably benign |
Het |
| Or6c3 |
T |
A |
10: 129,309,023 (GRCm39) |
F154Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,536,574 (GRCm39) |
D90G |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,022,627 (GRCm39) |
F315L |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,132,362 (GRCm39) |
D1026G |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,096 (GRCm39) |
Q143L |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,272,910 (GRCm39) |
E210G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,698,712 (GRCm39) |
T46S |
probably benign |
Het |
| Serpinb9e |
A |
T |
13: 33,435,609 (GRCm39) |
H14L |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,652 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Slc25a25 |
A |
C |
2: 32,310,674 (GRCm39) |
V168G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,726 (GRCm39) |
T261A |
possibly damaging |
Het |
| Spocd1 |
T |
C |
4: 129,849,197 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,995,514 (GRCm39) |
Y178N |
probably damaging |
Het |
| Top1mt |
C |
T |
15: 75,535,893 (GRCm39) |
E470K |
probably benign |
Het |
| Traj42 |
T |
C |
14: 54,413,290 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,876 (GRCm39) |
Y13H |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,461 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,633 (GRCm39) |
V159I |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,213 (GRCm39) |
T700S |
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 |
|
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'- TCCAAGTCATGAAGCAGGTGG -3'
(R):5'- GTGCTGTCTGGTTGAACCTAC -3'
Sequencing Primer
(F):5'- AGATGCACGCCGAGGTG -3'
(R):5'- TGGTTGAACCTACCAGGCCAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation