Incidental Mutation 'R5661:Ccdc40'
ID |
444097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc40
|
Ensembl Gene |
ENSMUSG00000039963 |
Gene Name |
coiled-coil domain containing 40 |
Synonyms |
B930008I02Rik |
MMRRC Submission |
043304-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R5661 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119128753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 427
(K427E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035935]
[ENSMUST00000053440]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035935
AA Change: K357E
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000039463 Gene: ENSMUSG00000039963 AA Change: K357E
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: K427E
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000062198 Gene: ENSMUSG00000039963 AA Change: K427E
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
|
Meta Mutation Damage Score |
0.1287 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg2 |
A |
G |
6: 83,497,754 (GRCm39) |
I166T |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,231,618 (GRCm39) |
E273G |
probably benign |
Het |
Arhgap15 |
G |
A |
2: 44,212,739 (GRCm39) |
R403H |
possibly damaging |
Het |
Arhgef26 |
T |
C |
3: 62,285,075 (GRCm39) |
|
probably benign |
Het |
Avl9 |
A |
T |
6: 56,702,087 (GRCm39) |
R81* |
probably null |
Het |
Brd3 |
G |
A |
2: 27,351,584 (GRCm39) |
T223I |
possibly damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,320,492 (GRCm39) |
M890T |
probably benign |
Het |
Carm1 |
A |
G |
9: 21,498,295 (GRCm39) |
D433G |
probably benign |
Het |
Ccdc80 |
T |
C |
16: 44,947,808 (GRCm39) |
Y929H |
probably damaging |
Het |
Ccr9 |
A |
C |
9: 123,609,164 (GRCm39) |
Y282S |
probably benign |
Het |
Det1 |
C |
T |
7: 78,492,958 (GRCm39) |
E349K |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,070,406 (GRCm39) |
N834Y |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,946,217 (GRCm39) |
|
probably null |
Het |
Fap |
A |
T |
2: 62,367,307 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,411,053 (GRCm39) |
C23R |
probably benign |
Het |
Gad1-ps |
T |
C |
10: 99,280,901 (GRCm39) |
|
noncoding transcript |
Het |
Gli2 |
C |
A |
1: 118,781,032 (GRCm39) |
E238* |
probably null |
Het |
Gm20939 |
C |
A |
17: 95,183,207 (GRCm39) |
H148N |
probably damaging |
Het |
Gnl1 |
T |
C |
17: 36,293,447 (GRCm39) |
Y211H |
probably benign |
Het |
Gpat3 |
A |
T |
5: 101,033,808 (GRCm39) |
K221* |
probably null |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hnrnph1 |
A |
T |
11: 50,275,507 (GRCm39) |
Q415L |
probably benign |
Het |
Kansl3 |
T |
C |
1: 36,388,038 (GRCm39) |
E383G |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,526,811 (GRCm39) |
V311A |
probably benign |
Het |
Lipk |
T |
A |
19: 34,009,727 (GRCm39) |
M215K |
probably benign |
Het |
Madd |
A |
G |
2: 90,984,778 (GRCm39) |
|
probably null |
Het |
Meltf |
A |
G |
16: 31,700,744 (GRCm39) |
E88G |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,195,626 (GRCm39) |
S713T |
probably benign |
Het |
Mocos |
T |
A |
18: 24,799,052 (GRCm39) |
|
probably null |
Het |
Msto1 |
T |
A |
3: 88,820,192 (GRCm39) |
D88V |
possibly damaging |
Het |
Myo5a |
A |
G |
9: 75,074,488 (GRCm39) |
Y799C |
probably benign |
Het |
Nectin4 |
T |
A |
1: 171,212,738 (GRCm39) |
L357H |
probably damaging |
Het |
Or4p22 |
G |
A |
2: 88,317,441 (GRCm39) |
V122M |
probably damaging |
Het |
Or6c2 |
A |
T |
10: 129,362,618 (GRCm39) |
H174L |
probably benign |
Het |
Pax2 |
A |
G |
19: 44,779,161 (GRCm39) |
N179S |
probably damaging |
Het |
Pcdhac2 |
C |
A |
18: 37,278,499 (GRCm39) |
T493K |
probably damaging |
Het |
Pgk2 |
G |
T |
17: 40,518,287 (GRCm39) |
C380* |
probably null |
Het |
Pi4k2b |
G |
A |
5: 52,900,906 (GRCm39) |
|
probably null |
Het |
Plcb3 |
A |
G |
19: 6,940,588 (GRCm39) |
V416A |
probably damaging |
Het |
Pom121l2 |
G |
A |
13: 22,168,425 (GRCm39) |
G899R |
possibly damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,110,963 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,628,634 (GRCm39) |
E3460K |
possibly damaging |
Het |
Psmb3 |
A |
G |
11: 97,597,659 (GRCm39) |
E75G |
possibly damaging |
Het |
Retnlb |
C |
T |
16: 48,638,429 (GRCm39) |
T50I |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,649 (GRCm39) |
S789P |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,136,734 (GRCm39) |
T489I |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,136,791 (GRCm39) |
M508T |
possibly damaging |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Terf1 |
T |
A |
1: 15,889,888 (GRCm39) |
V221E |
probably damaging |
Het |
Trak1 |
A |
G |
9: 121,272,703 (GRCm39) |
N187S |
possibly damaging |
Het |
Trappc11 |
T |
A |
8: 47,965,642 (GRCm39) |
D528V |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,370,384 (GRCm39) |
D761G |
probably benign |
Het |
Vmn1r170 |
A |
G |
7: 23,306,231 (GRCm39) |
N211S |
possibly damaging |
Het |
Zfpm2 |
G |
A |
15: 40,959,467 (GRCm39) |
W50* |
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 |
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'- GGAAAATCATCTGTGTCTGTCC -3'
(R):5'- CAGGTCTTGTTGTAGACGGAGC -3'
Sequencing Primer
(F):5'- GAAAATCATCTGTGTCTGTCCATACC -3'
(R):5'- TCACAGGCCACCAGAGAGTG -3'
|
Posted On |
2016-11-09 |