Incidental Mutation 'R6166:Ccdc40'
| ID |
490156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
044312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6166 (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 119122827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 210
(S210P)
|
| 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: S140P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: S140P
| 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: S210P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: S210P
| 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
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (57/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
A |
T |
12: 84,039,378 (GRCm39) |
N296Y |
probably damaging |
Het |
| Ago2 |
T |
A |
15: 72,996,089 (GRCm39) |
I347L |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,329,288 (GRCm39) |
|
probably null |
Het |
| Ap1ar |
A |
G |
3: 127,606,177 (GRCm39) |
|
probably null |
Het |
| Arap3 |
T |
C |
18: 38,107,423 (GRCm39) |
T1365A |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,525,699 (GRCm39) |
H1966Q |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
| Atg13 |
G |
T |
2: 91,506,736 (GRCm39) |
Q479K |
probably damaging |
Het |
| Bmp8a |
T |
C |
4: 123,218,471 (GRCm39) |
T183A |
probably benign |
Het |
| Camta2 |
G |
C |
11: 70,565,087 (GRCm39) |
|
probably null |
Het |
| Catspere2 |
A |
G |
1: 177,931,403 (GRCm39) |
T441A |
unknown |
Het |
| Cnn2 |
A |
G |
10: 79,824,561 (GRCm39) |
E17G |
possibly damaging |
Het |
| Cnot6l |
T |
C |
5: 96,227,799 (GRCm39) |
D478G |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,044 (GRCm39) |
H478R |
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,228,766 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dll4 |
A |
G |
2: 119,165,107 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,780,316 (GRCm39) |
V1039A |
probably benign |
Het |
| Fam117a |
T |
C |
11: 95,271,607 (GRCm39) |
M393T |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,532,212 (GRCm39) |
N508K |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,522 (GRCm39) |
S758P |
probably damaging |
Het |
| Fgf20 |
T |
C |
8: 40,732,881 (GRCm39) |
K186E |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,726,736 (GRCm39) |
K628E |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,811,071 (GRCm39) |
K2463N |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,090,646 (GRCm39) |
Y299* |
probably null |
Het |
| Gm7363 |
A |
T |
7: 3,986,784 (GRCm39) |
|
noncoding transcript |
Het |
| Gpx5 |
A |
T |
13: 21,473,435 (GRCm39) |
F104I |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,259,274 (GRCm39) |
G1038D |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,862,184 (GRCm39) |
A134T |
probably benign |
Het |
| Lrba |
G |
A |
3: 86,261,614 (GRCm39) |
|
probably null |
Het |
| Lypd10 |
A |
T |
7: 24,413,644 (GRCm39) |
Q220L |
probably benign |
Het |
| Naprt |
T |
C |
15: 75,763,326 (GRCm39) |
Q439R |
possibly damaging |
Het |
| Ndufs6 |
G |
A |
13: 73,466,060 (GRCm39) |
|
probably benign |
Het |
| Nodal |
C |
A |
10: 61,260,337 (GRCm39) |
S329R |
probably damaging |
Het |
| Olfm3 |
T |
A |
3: 114,916,074 (GRCm39) |
N315K |
probably damaging |
Het |
| Or4k2 |
C |
T |
14: 50,424,225 (GRCm39) |
V150I |
probably benign |
Het |
| Or6c3b |
A |
T |
10: 129,527,148 (GRCm39) |
I254K |
probably damaging |
Het |
| Or6k2 |
A |
G |
1: 173,986,659 (GRCm39) |
T107A |
probably benign |
Het |
| Plg |
T |
A |
17: 12,617,001 (GRCm39) |
V373E |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,861,306 (GRCm39) |
S661R |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,390,664 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
T |
C |
14: 70,035,627 (GRCm39) |
D148G |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,322,543 (GRCm39) |
N116K |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,617,177 (GRCm39) |
|
probably benign |
Homo |
| Slc38a9 |
T |
G |
13: 112,831,801 (GRCm39) |
Y184D |
possibly damaging |
Het |
| Sowahc |
A |
G |
10: 59,058,182 (GRCm39) |
D106G |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,406,696 (GRCm39) |
Y563C |
probably damaging |
Het |
| Src |
A |
G |
2: 157,310,442 (GRCm39) |
Y359C |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,026,673 (GRCm39) |
D47G |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,585,923 (GRCm39) |
K541E |
possibly damaging |
Het |
| Tgm7 |
A |
G |
2: 120,929,539 (GRCm39) |
V245A |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,900,650 (GRCm39) |
R519H |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,681 (GRCm39) |
S157P |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,818,157 (GRCm39) |
S507N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,718,791 (GRCm39) |
H152Q |
possibly damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,427,947 (GRCm39) |
L773P |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,215,189 (GRCm39) |
L115P |
probably benign |
Het |
| Wdr59 |
C |
T |
8: 112,199,293 (GRCm39) |
R631H |
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 |
|
R6109:Ccdc40
|
UTSW |
11 |
119,122,804 (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'- GTTGAATCCATCGGAGAGGC -3'
(R):5'- ATATGCCTTGCTGGAATGTGTC -3'
Sequencing Primer
(F):5'- TACCCCAGGAATGGACGTG -3'
(R):5'- CGGTTGATGTGGCTGAGAC -3'
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| Posted On |
2017-10-10 |
Incidental Mutation