Incidental Mutation 'R8162:Ccdc40'
| ID |
633584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
067588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R8162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 119150870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035935]
[ENSMUST00000035935]
[ENSMUST00000053440]
[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: 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
98% (47/48) |
| 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 |
|---|
| Apol7b |
T |
A |
15: 77,307,430 (GRCm39) |
Q355L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,633,945 (GRCm39) |
Q383H |
probably benign |
Het |
| Ash1l |
T |
G |
3: 88,977,553 (GRCm39) |
M2661R |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,577,313 (GRCm39) |
|
probably null |
Het |
| Cd27 |
T |
A |
6: 125,210,188 (GRCm39) |
|
probably null |
Het |
| Ces3b |
T |
C |
8: 105,817,385 (GRCm39) |
L371S |
possibly damaging |
Het |
| Clec4a2 |
T |
A |
6: 123,117,711 (GRCm39) |
Y210N |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,394,681 (GRCm39) |
H553L |
|
Het |
| Cpne8 |
T |
C |
15: 90,503,881 (GRCm39) |
I95V |
probably benign |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,525 (GRCm39) |
T96A |
probably benign |
Het |
| Dand5 |
C |
A |
8: 85,543,147 (GRCm39) |
G110C |
probably damaging |
Het |
| Erich3 |
C |
T |
3: 154,470,210 (GRCm39) |
T1554M |
unknown |
Het |
| Evi5l |
T |
C |
8: 4,241,300 (GRCm39) |
S278P |
probably damaging |
Het |
| Farp2 |
C |
A |
1: 93,548,325 (GRCm39) |
H1003Q |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gm13741 |
A |
C |
2: 87,486,446 (GRCm39) |
M273R |
possibly damaging |
Het |
| Gm28363 |
T |
A |
1: 117,626,641 (GRCm39) |
D26E |
unknown |
Het |
| Gm8674 |
A |
T |
13: 50,054,407 (GRCm39) |
D700E |
noncoding transcript |
Het |
| Gtf3c4 |
G |
A |
2: 28,724,593 (GRCm39) |
Q380* |
probably null |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il1a |
A |
T |
2: 129,148,477 (GRCm39) |
S78T |
possibly damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,582,508 (GRCm39) |
|
probably null |
Het |
| Met |
A |
G |
6: 17,547,061 (GRCm39) |
D898G |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,221 (GRCm39) |
Y127N |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,071 (GRCm39) |
S8P |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,197 (GRCm39) |
T148S |
unknown |
Het |
| Nutm1 |
G |
A |
2: 112,078,817 (GRCm39) |
L1033F |
probably benign |
Het |
| Ocstamp |
G |
T |
2: 165,239,787 (GRCm39) |
A133D |
probably damaging |
Het |
| Or1ab2 |
T |
G |
8: 72,864,253 (GRCm39) |
V281G |
noncoding transcript |
Het |
| Or5p63 |
T |
C |
7: 107,810,995 (GRCm39) |
H247R |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,930,249 (GRCm39) |
D196V |
probably benign |
Het |
| Or9s18 |
G |
A |
13: 65,300,734 (GRCm39) |
R232Q |
probably damaging |
Het |
| Phf12 |
C |
A |
11: 77,915,651 (GRCm39) |
P46Q |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,138,749 (GRCm39) |
T236A |
probably damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,884,798 (GRCm39) |
V47A |
probably benign |
Het |
| Rapgef1 |
A |
T |
2: 29,626,011 (GRCm39) |
N1071Y |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf26rt |
C |
A |
6: 76,473,558 (GRCm39) |
A353S |
probably benign |
Het |
| Tango6 |
C |
T |
8: 107,409,882 (GRCm39) |
P33L |
possibly damaging |
Het |
| Tasor2 |
G |
T |
13: 3,649,691 (GRCm39) |
T36N |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,089,937 (GRCm39) |
R864H |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,304,432 (GRCm39) |
|
probably null |
Het |
| Trav10n |
A |
T |
14: 53,359,929 (GRCm39) |
I69L |
probably benign |
Het |
| Tsks |
A |
G |
7: 44,603,296 (GRCm39) |
Q366R |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,853,106 (GRCm39) |
S618* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,622,799 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
A |
8: 79,787,206 (GRCm39) |
L124* |
probably null |
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 |
|
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 |
|
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'- TCTTGTGTCCCCAGGTTAGG -3'
(R):5'- ATGATCCAAGGTCTGCTGCTC -3'
Sequencing Primer
(F):5'- TTAGGCACGGGCAGCTACTG -3'
(R):5'- CTCAGAATTGAGTGGACAAGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation