Incidental Mutation 'R5805:Ccdc40'
| ID |
448464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
043212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R5805 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 119136906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035935]
[ENSMUST00000053440]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035935
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
| 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 null
Transcript: ENSMUST00000053440
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
| 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: ENSMUST00000143066
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,170,216 (GRCm39) |
C1293Y |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,565,794 (GRCm39) |
D611V |
probably damaging |
Het |
| Arhgap33 |
T |
C |
7: 30,225,839 (GRCm39) |
T576A |
probably benign |
Het |
| Atf7 |
A |
T |
15: 102,466,022 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,466,489 (GRCm39) |
T464S |
probably benign |
Het |
| Celf2 |
T |
C |
2: 6,558,598 (GRCm39) |
E430G |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,035,792 (GRCm39) |
T211A |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,257,408 (GRCm39) |
F151S |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,378,965 (GRCm39) |
T175A |
probably damaging |
Het |
| Doc2b |
A |
G |
11: 75,663,364 (GRCm39) |
S363P |
probably damaging |
Het |
| Garem1 |
C |
T |
18: 21,281,492 (GRCm39) |
R288H |
probably benign |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,882,301 (GRCm39) |
C164F |
probably damaging |
Het |
| Itfg1 |
A |
T |
8: 86,493,601 (GRCm39) |
S293T |
probably benign |
Het |
| Kcnn2 |
T |
A |
18: 45,816,198 (GRCm39) |
D336E |
probably damaging |
Het |
| Kifc2 |
C |
T |
15: 76,546,353 (GRCm39) |
A245V |
probably benign |
Het |
| Krt18 |
T |
A |
15: 101,939,735 (GRCm39) |
I311N |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,517 (GRCm39) |
M7T |
possibly damaging |
Het |
| Mef2a |
T |
C |
7: 66,901,416 (GRCm39) |
M285V |
possibly damaging |
Het |
| Micu1 |
A |
C |
10: 59,663,128 (GRCm39) |
K353Q |
possibly damaging |
Het |
| Mpv17l |
A |
G |
16: 13,760,013 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
G |
A |
3: 87,687,479 (GRCm39) |
R652W |
probably damaging |
Het |
| Or13a28 |
T |
A |
7: 140,218,384 (GRCm39) |
F257I |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,855,152 (GRCm39) |
I281T |
probably benign |
Het |
| Or4c107 |
G |
A |
2: 88,788,985 (GRCm39) |
M58I |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,066,091 (GRCm39) |
T252K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,434,193 (GRCm39) |
M1392V |
probably benign |
Het |
| Phf20 |
T |
A |
2: 156,149,214 (GRCm39) |
V964E |
probably damaging |
Het |
| Pira13 |
G |
A |
7: 3,825,622 (GRCm39) |
L416F |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,325,234 (GRCm39) |
|
probably null |
Het |
| Rnf10 |
A |
T |
5: 115,382,127 (GRCm39) |
C693S |
probably benign |
Het |
| Rnf19b |
A |
G |
4: 128,952,617 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ros1 |
G |
T |
10: 51,999,385 (GRCm39) |
D1167E |
probably damaging |
Het |
| Sidt2 |
G |
A |
9: 45,853,497 (GRCm39) |
S701L |
probably damaging |
Het |
| Slc66a2 |
C |
T |
18: 80,306,658 (GRCm39) |
P76L |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,200,430 (GRCm39) |
I345T |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,141,211 (GRCm39) |
S1603T |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,831 (GRCm39) |
Y251N |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,776,330 (GRCm39) |
N33S |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,769,299 (GRCm39) |
L363P |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,361,357 (GRCm39) |
R591H |
possibly damaging |
Het |
| Usf3 |
A |
G |
16: 44,041,109 (GRCm39) |
N1863S |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,806 (GRCm39) |
I633V |
possibly damaging |
Het |
| Zfp979 |
T |
C |
4: 147,698,067 (GRCm39) |
D214G |
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 |
|
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 |
|
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'- GCAAGAAGTCCATCATGCAGG -3'
(R):5'- ACTTGGTCATCTTGCTGGAG -3'
Sequencing Primer
(F):5'- GTCCATCATGCAGGAGGAAG -3'
(R):5'- TGCAGCTTGTCCACCATGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation