Incidental Mutation 'R4787:Ccdc40'
| ID |
397172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
041975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R4787 (G1)
|
| Quality Score |
144 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119144447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 924
(D924G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039463
(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: D924G
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: D924G
| 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: ENSMUST00000053440
AA Change: D994G
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: D994G
| 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: ENSMUST00000133788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143066
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (72/72) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
A |
8: 73,199,008 (GRCm39) |
Y138* |
probably null |
Het |
| 4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
| Amy2b |
T |
C |
3: 113,058,634 (GRCm39) |
|
noncoding transcript |
Het |
| Anxa1 |
T |
A |
19: 20,351,118 (GRCm39) |
D334V |
probably damaging |
Het |
| Atoh8 |
T |
C |
6: 72,200,761 (GRCm39) |
T310A |
possibly damaging |
Het |
| BC002059 |
G |
A |
17: 17,193,810 (GRCm39) |
|
noncoding transcript |
Het |
| Ccm2l |
A |
T |
2: 152,921,422 (GRCm39) |
M433L |
probably benign |
Het |
| Cd209e |
T |
C |
8: 3,901,181 (GRCm39) |
S158G |
probably null |
Het |
| Cdkn2a |
C |
T |
4: 89,194,955 (GRCm39) |
R153H |
unknown |
Het |
| Cfap69 |
A |
G |
5: 5,696,934 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,808,280 (GRCm39) |
T923A |
unknown |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,248 (GRCm39) |
F216S |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,180,310 (GRCm39) |
C1995* |
probably null |
Het |
| Epb41l5 |
G |
A |
1: 119,523,725 (GRCm39) |
P467S |
probably benign |
Het |
| Extl1 |
G |
A |
4: 134,091,978 (GRCm39) |
L292F |
probably damaging |
Het |
| Fsd1 |
A |
G |
17: 56,303,257 (GRCm39) |
N409D |
possibly damaging |
Het |
| Gm15455 |
A |
T |
1: 33,876,803 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8894 |
A |
G |
14: 55,658,172 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c2 |
C |
T |
5: 31,314,921 (GRCm39) |
S942N |
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,681,041 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Ab1 |
A |
T |
17: 34,486,441 (GRCm39) |
T167S |
possibly damaging |
Het |
| Ighv8-9 |
C |
T |
12: 115,432,134 (GRCm39) |
R59H |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,228,752 (GRCm39) |
V171I |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,664,079 (GRCm39) |
E533K |
possibly damaging |
Het |
| Iqgap1 |
A |
C |
7: 80,385,261 (GRCm39) |
L1022R |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,813 (GRCm39) |
F516L |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,668,081 (GRCm39) |
T47A |
possibly damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,548,175 (GRCm39) |
|
probably benign |
Het |
| Ldhb-ps |
C |
A |
19: 21,915,601 (GRCm39) |
|
noncoding transcript |
Het |
| Lipo3 |
T |
A |
19: 33,757,749 (GRCm39) |
Q240L |
probably benign |
Het |
| Lpar5 |
A |
G |
6: 125,059,461 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
G |
15: 91,597,031 (GRCm39) |
D541G |
probably benign |
Het |
| Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
| Meig1 |
A |
G |
2: 3,410,251 (GRCm39) |
V83A |
possibly damaging |
Het |
| Natd1 |
A |
C |
11: 60,797,822 (GRCm39) |
C34W |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,178,996 (GRCm39) |
C689S |
probably damaging |
Het |
| Or4c104 |
T |
A |
2: 88,586,219 (GRCm39) |
K267* |
probably null |
Het |
| Or52u1 |
T |
C |
7: 104,237,167 (GRCm39) |
M52T |
probably benign |
Het |
| Or5d35 |
T |
C |
2: 87,855,204 (GRCm39) |
M46T |
possibly damaging |
Het |
| Or6a2 |
G |
A |
7: 106,600,293 (GRCm39) |
A258V |
probably benign |
Het |
| Pdgfrb |
A |
C |
18: 61,212,759 (GRCm39) |
S888R |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,979 (GRCm39) |
E626G |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 44,990,050 (GRCm39) |
A1159S |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,547,450 (GRCm39) |
K74* |
probably null |
Het |
| Prex1 |
A |
G |
2: 166,480,260 (GRCm39) |
V160A |
probably benign |
Het |
| Psmb7 |
C |
T |
2: 38,478,283 (GRCm39) |
C247Y |
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,547,435 (GRCm39) |
|
probably null |
Het |
| Rfc5 |
T |
C |
5: 117,520,485 (GRCm39) |
T236A |
probably benign |
Het |
| Sdk1 |
G |
T |
5: 141,568,168 (GRCm39) |
R122L |
probably benign |
Het |
| Sh3bp1 |
T |
C |
15: 78,792,195 (GRCm39) |
S451P |
possibly damaging |
Het |
| Smap1 |
G |
T |
1: 23,888,347 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,462,927 (GRCm39) |
V639E |
probably damaging |
Het |
| Synpo2l |
T |
A |
14: 20,711,765 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
| Tbc1d17 |
G |
A |
7: 44,492,488 (GRCm39) |
P392S |
probably benign |
Het |
| Tef |
T |
A |
15: 81,707,758 (GRCm39) |
I261N |
probably damaging |
Het |
| Tmbim1 |
T |
C |
1: 74,334,519 (GRCm39) |
N14D |
possibly damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,404,312 (GRCm39) |
K121R |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,305,599 (GRCm39) |
M461I |
probably benign |
Het |
| Trpc1 |
T |
A |
9: 95,603,468 (GRCm39) |
M355L |
probably benign |
Het |
| Tspyl4 |
A |
C |
10: 34,173,760 (GRCm39) |
D84A |
probably benign |
Het |
| Twf1 |
G |
T |
15: 94,482,315 (GRCm39) |
P144T |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,392 (GRCm39) |
C184R |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,013,257 (GRCm39) |
P283S |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,796,860 (GRCm39) |
C49R |
probably benign |
Het |
| Wdr11 |
T |
A |
7: 129,210,658 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,152,816 (GRCm39) |
M97K |
possibly 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 |
|
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 |
|
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'- ACAAGAACCGATGCAGTTCG -3'
(R):5'- CCCAGTGGTGCCAATATTTG -3'
Sequencing Primer
(F):5'- ACGCTGAAGGCCAGTACTG -3'
(R):5'- AATATTTGGTGGCTATCCCTCAG -3'
|
| Posted On |
2016-06-24 |
Incidental Mutation