Incidental Mutation 'R6109:Ccdc40'
ID |
484735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc40
|
Ensembl Gene |
ENSMUSG00000039963 |
Gene Name |
coiled-coil domain containing 40 |
Synonyms |
B930008I02Rik |
MMRRC Submission |
044259-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R6109 (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 C
at 119122804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 202
(V202A)
|
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 |
probably benign
Transcript: ENSMUST00000035935
AA Change: V132A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039463 Gene: ENSMUSG00000039963 AA Change: V132A
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 |
probably benign
Transcript: ENSMUST00000053440
AA Change: V202A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000062198 Gene: ENSMUSG00000039963 AA Change: V202A
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: ENSMUST00000147037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150358
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207655
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (64/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,621,303 (GRCm39) |
Y950C |
probably benign |
Het |
Acadm |
A |
G |
3: 153,647,580 (GRCm39) |
C20R |
probably damaging |
Het |
Agtpbp1 |
G |
T |
13: 59,621,560 (GRCm39) |
T984K |
probably damaging |
Het |
Agxt2 |
C |
T |
15: 10,377,508 (GRCm39) |
T136I |
probably damaging |
Het |
Ankrd36 |
C |
A |
11: 5,578,941 (GRCm39) |
N68K |
probably damaging |
Het |
Ap3b2 |
T |
A |
7: 81,143,340 (GRCm39) |
D10V |
possibly damaging |
Het |
Apcdd1 |
A |
T |
18: 63,070,437 (GRCm39) |
I235F |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,171,407 (GRCm39) |
W1396R |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,525,343 (GRCm39) |
T513A |
probably benign |
Het |
Aym1 |
C |
T |
5: 113,505,407 (GRCm39) |
L9F |
unknown |
Het |
Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
Camk2a |
A |
T |
18: 61,076,306 (GRCm39) |
K95* |
probably null |
Het |
Cd200r3 |
T |
A |
16: 44,774,045 (GRCm39) |
D152E |
probably benign |
Het |
Cd2bp2 |
C |
T |
7: 126,793,987 (GRCm39) |
D101N |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,921,739 (GRCm39) |
D679N |
probably damaging |
Het |
Clpx |
C |
T |
9: 65,207,234 (GRCm39) |
T44I |
probably benign |
Het |
Cnnm4 |
T |
G |
1: 36,537,560 (GRCm39) |
V541G |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,249,874 (GRCm39) |
I1035V |
possibly damaging |
Het |
Ctsw |
T |
C |
19: 5,517,147 (GRCm39) |
S62G |
probably benign |
Het |
Dlk2 |
T |
A |
17: 46,612,623 (GRCm39) |
Y109N |
probably damaging |
Het |
Ebf3 |
C |
T |
7: 136,807,955 (GRCm39) |
V363M |
probably damaging |
Het |
Farsb |
A |
G |
1: 78,439,907 (GRCm39) |
|
probably null |
Het |
Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Foxl3 |
C |
A |
5: 138,805,850 (GRCm39) |
Q6K |
probably damaging |
Het |
Gk5 |
C |
A |
9: 96,022,663 (GRCm39) |
F166L |
probably benign |
Het |
Gm11271 |
G |
T |
13: 21,565,309 (GRCm39) |
|
noncoding transcript |
Het |
Gnat2 |
T |
A |
3: 108,007,451 (GRCm39) |
Y290N |
probably damaging |
Het |
H2-D1 |
A |
T |
17: 35,482,913 (GRCm39) |
I148F |
probably damaging |
Het |
Hdac2 |
A |
G |
10: 36,862,385 (GRCm39) |
D83G |
probably null |
Het |
Kdm5d |
T |
C |
Y: 921,501 (GRCm39) |
W500R |
probably damaging |
Het |
Kel |
A |
T |
6: 41,665,796 (GRCm39) |
F489I |
probably benign |
Het |
Kmo |
C |
A |
1: 175,465,474 (GRCm39) |
A76E |
possibly damaging |
Het |
Krt32 |
T |
C |
11: 99,978,791 (GRCm39) |
T88A |
probably benign |
Het |
Lce3b |
A |
G |
3: 92,840,994 (GRCm39) |
T30A |
unknown |
Het |
Lcn11 |
A |
G |
2: 25,669,308 (GRCm39) |
H155R |
possibly damaging |
Het |
Lmln |
T |
A |
16: 32,889,481 (GRCm39) |
I129N |
possibly damaging |
Het |
Meiob |
A |
G |
17: 25,031,993 (GRCm39) |
K3E |
probably benign |
Het |
Mitf |
C |
T |
6: 97,973,429 (GRCm39) |
T229M |
probably damaging |
Het |
Ms4a20 |
T |
C |
19: 11,079,276 (GRCm39) |
M131V |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,566,655 (GRCm39) |
I1955V |
unknown |
Het |
Naip1 |
A |
G |
13: 100,563,690 (GRCm39) |
C492R |
probably damaging |
Het |
Ncor2 |
C |
T |
5: 125,132,910 (GRCm39) |
A26T |
probably damaging |
Het |
Ngfr |
T |
G |
11: 95,468,883 (GRCm39) |
D165A |
probably damaging |
Het |
Nobox |
A |
T |
6: 43,282,103 (GRCm39) |
S323R |
probably damaging |
Het |
Or51ac3 |
T |
C |
7: 103,214,346 (GRCm39) |
I47V |
probably benign |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Or8g23 |
A |
G |
9: 38,971,492 (GRCm39) |
S157P |
probably benign |
Het |
Pcdhb1 |
G |
T |
18: 37,398,306 (GRCm39) |
V86F |
possibly damaging |
Het |
Pdk1 |
A |
G |
2: 71,713,850 (GRCm39) |
E165G |
probably benign |
Het |
Peak1 |
C |
T |
9: 56,166,567 (GRCm39) |
V454I |
probably benign |
Het |
Rad9b |
C |
T |
5: 122,482,360 (GRCm39) |
G125D |
probably damaging |
Het |
S100a16 |
T |
C |
3: 90,449,381 (GRCm39) |
F19L |
probably damaging |
Het |
Serpine2 |
T |
C |
1: 79,788,388 (GRCm39) |
K190E |
probably damaging |
Het |
Slf1 |
A |
T |
13: 77,274,799 (GRCm39) |
M12K |
probably damaging |
Het |
Tex101 |
T |
C |
7: 24,367,738 (GRCm39) |
T205A |
possibly damaging |
Het |
Tssk5 |
T |
C |
15: 76,257,916 (GRCm39) |
E147G |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,144,675 (GRCm39) |
T1495A |
probably damaging |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Wdr70 |
A |
T |
15: 8,108,638 (GRCm39) |
|
probably null |
Het |
Zfp811 |
T |
A |
17: 33,016,348 (GRCm39) |
|
probably null |
Het |
Zscan10 |
T |
A |
17: 23,826,103 (GRCm39) |
F88L |
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 |
R6034:Ccdc40
|
UTSW |
11 |
119,133,898 (GRCm39) |
missense |
possibly damaging |
0.70 |
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'- CCACTGGAGAGAGCATACAG -3'
(R):5'- TCTTCACCCATCTCCAAGGG -3'
Sequencing Primer
(F):5'- TTGAATCCATCGGAGAGGCTACC -3'
(R):5'- CATCTCCAAGGGACTGATGTC -3'
|
Posted On |
2017-08-16 |