Incidental Mutation 'R1531:Ccdc40'
ID |
166233 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc40
|
Ensembl Gene |
ENSMUSG00000039963 |
Gene Name |
coiled-coil domain containing 40 |
Synonyms |
B930008I02Rik |
MMRRC Submission |
039570-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R1531 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119154015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1096
(V1096I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026666]
[ENSMUST00000035935]
[ENSMUST00000053440]
[ENSMUST00000106258]
[ENSMUST00000106259]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026666
|
SMART Domains |
Protein: ENSMUSP00000026666 Gene: ENSMUSG00000025579
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PD
|
80 |
134 |
1.08e-15 |
SMART |
Pfam:Gal_mutarotas_2
|
254 |
320 |
3.7e-12 |
PFAM |
Pfam:Glyco_hydro_31
|
340 |
825 |
8.8e-175 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035935
AA Change: V1096I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000039463 Gene: ENSMUSG00000039963 AA Change: V1096I
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
|
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 benign
Transcript: ENSMUST00000106258
|
SMART Domains |
Protein: ENSMUSP00000101865 Gene: ENSMUSG00000025579
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PD
|
80 |
134 |
1.08e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106259
|
SMART Domains |
Protein: ENSMUSP00000101866 Gene: ENSMUSG00000025579
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PD
|
80 |
134 |
1.08e-15 |
SMART |
Pfam:NtCtMGAM_N
|
147 |
253 |
3.5e-32 |
PFAM |
Pfam:Gal_mutarotas_2
|
254 |
320 |
6.5e-12 |
PFAM |
Pfam:Glyco_hydro_31
|
340 |
825 |
1.8e-153 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126652
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133788
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
T |
A |
13: 59,648,448 (GRCm39) |
|
probably null |
Het |
Aldh3b2 |
T |
G |
19: 4,027,543 (GRCm39) |
F28C |
probably damaging |
Het |
Apaf1 |
T |
C |
10: 90,890,383 (GRCm39) |
N540S |
probably damaging |
Het |
Apob |
T |
C |
12: 8,047,880 (GRCm39) |
I953T |
possibly damaging |
Het |
Arhgef1 |
A |
G |
7: 24,624,423 (GRCm39) |
T816A |
probably damaging |
Het |
Arid4a |
T |
A |
12: 71,122,779 (GRCm39) |
F1053L |
probably benign |
Het |
Atxn1l |
A |
C |
8: 110,458,691 (GRCm39) |
F524V |
probably damaging |
Het |
Cad |
T |
A |
5: 31,233,563 (GRCm39) |
M1874K |
probably benign |
Het |
Ccdc93 |
A |
G |
1: 121,408,551 (GRCm39) |
D358G |
probably benign |
Het |
Cd96 |
T |
C |
16: 45,938,169 (GRCm39) |
T99A |
probably benign |
Het |
Cdc42ep3 |
A |
T |
17: 79,642,473 (GRCm39) |
M149K |
probably benign |
Het |
Cgas |
A |
G |
9: 78,349,763 (GRCm39) |
Y200H |
probably damaging |
Het |
Cog4 |
A |
G |
8: 111,606,353 (GRCm39) |
E613G |
probably benign |
Het |
Crebbp |
A |
T |
16: 3,902,381 (GRCm39) |
I2286N |
probably benign |
Het |
Csf1 |
T |
C |
3: 107,655,654 (GRCm39) |
E459G |
possibly damaging |
Het |
Csrp2 |
A |
T |
10: 110,771,066 (GRCm39) |
Y57F |
probably benign |
Het |
Ctdspl |
C |
T |
9: 118,869,650 (GRCm39) |
P244L |
probably damaging |
Het |
Cyp2c29 |
A |
G |
19: 39,313,412 (GRCm39) |
R303G |
probably damaging |
Het |
Cyp4a10 |
C |
A |
4: 115,375,632 (GRCm39) |
Y38* |
probably null |
Het |
Dmgdh |
T |
A |
13: 93,880,919 (GRCm39) |
I783N |
probably damaging |
Het |
Efcc1 |
G |
A |
6: 87,708,148 (GRCm39) |
E92K |
probably benign |
Het |
Eif2ak4 |
T |
A |
2: 118,273,691 (GRCm39) |
L872H |
probably damaging |
Het |
Elp2 |
T |
A |
18: 24,764,461 (GRCm39) |
S603T |
probably benign |
Het |
Eml2 |
T |
A |
7: 18,930,179 (GRCm39) |
L300H |
probably damaging |
Het |
Esp3 |
A |
G |
17: 40,946,827 (GRCm39) |
K50R |
possibly damaging |
Het |
Esrp1 |
A |
G |
4: 11,379,375 (GRCm39) |
F136L |
probably damaging |
Het |
Exoc1 |
T |
A |
5: 76,707,011 (GRCm39) |
D497E |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,908,761 (GRCm39) |
S2414P |
probably damaging |
Het |
Foxj3 |
C |
T |
4: 119,477,398 (GRCm39) |
P369S |
unknown |
Het |
Gkn2 |
G |
T |
6: 87,352,921 (GRCm39) |
|
probably null |
Het |
Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
Gm21905 |
A |
T |
5: 68,103,724 (GRCm39) |
|
probably benign |
Het |
Grhl1 |
T |
A |
12: 24,632,962 (GRCm39) |
|
probably null |
Het |
Grk6 |
A |
G |
13: 55,599,967 (GRCm39) |
Y221C |
probably damaging |
Het |
Hcrtr1 |
T |
A |
4: 130,024,720 (GRCm39) |
K389* |
probably null |
Het |
Hk1 |
G |
A |
10: 62,120,563 (GRCm39) |
R545C |
probably damaging |
Het |
Hsp90b1 |
A |
T |
10: 86,532,659 (GRCm39) |
I339N |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,381,272 (GRCm39) |
R103G |
probably damaging |
Het |
Itgad |
A |
C |
7: 127,777,542 (GRCm39) |
I141L |
probably benign |
Het |
Jmjd6 |
T |
A |
11: 116,733,266 (GRCm39) |
Y137F |
probably benign |
Het |
Kcna1 |
A |
G |
6: 126,619,030 (GRCm39) |
V430A |
probably benign |
Het |
Kel |
A |
G |
6: 41,665,560 (GRCm39) |
V520A |
probably damaging |
Het |
Klhl41 |
G |
A |
2: 69,501,084 (GRCm39) |
V182I |
probably benign |
Het |
Ldhb |
C |
A |
6: 142,447,121 (GRCm39) |
M64I |
probably benign |
Het |
Lrrc23 |
A |
G |
6: 124,753,077 (GRCm39) |
S190P |
possibly damaging |
Het |
Mboat2 |
T |
C |
12: 25,009,029 (GRCm39) |
V445A |
probably benign |
Het |
Mlycd |
G |
A |
8: 120,128,258 (GRCm39) |
W188* |
probably null |
Het |
Mpp3 |
C |
T |
11: 101,899,475 (GRCm39) |
E349K |
probably benign |
Het |
Mtres1 |
A |
G |
10: 43,401,316 (GRCm39) |
V211A |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,141,366 (GRCm39) |
M780V |
probably benign |
Het |
Myh6 |
G |
A |
14: 55,193,963 (GRCm39) |
R809C |
probably damaging |
Het |
Mylip |
G |
A |
13: 45,560,046 (GRCm39) |
V161M |
possibly damaging |
Het |
Nrp1 |
G |
A |
8: 129,152,450 (GRCm39) |
V220I |
probably null |
Het |
Nup210 |
A |
T |
6: 91,011,823 (GRCm39) |
N455K |
probably benign |
Het |
Or14j10 |
A |
T |
17: 37,935,243 (GRCm39) |
Y94* |
probably null |
Het |
Or51f1d |
C |
A |
7: 102,700,795 (GRCm39) |
Q97K |
probably benign |
Het |
Pbld2 |
G |
T |
10: 62,889,732 (GRCm39) |
|
probably null |
Het |
Pclo |
C |
G |
5: 14,571,917 (GRCm39) |
P434R |
probably damaging |
Het |
Pdlim3 |
A |
G |
8: 46,349,800 (GRCm39) |
K37E |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,589,970 (GRCm39) |
I2611N |
probably benign |
Het |
Prr12 |
T |
C |
7: 44,677,954 (GRCm39) |
D2019G |
unknown |
Het |
Rab27a |
A |
G |
9: 73,002,685 (GRCm39) |
T205A |
probably benign |
Het |
Rcan3 |
A |
G |
4: 135,152,595 (GRCm39) |
L42P |
probably damaging |
Het |
Rchy1 |
T |
C |
5: 92,103,474 (GRCm39) |
|
probably null |
Het |
Sema6a |
T |
C |
18: 47,382,066 (GRCm39) |
H827R |
probably damaging |
Het |
Sertad4 |
A |
G |
1: 192,533,258 (GRCm39) |
|
probably null |
Het |
Smarcd1 |
T |
A |
15: 99,605,264 (GRCm39) |
C282S |
probably damaging |
Het |
Speg |
A |
G |
1: 75,377,866 (GRCm39) |
T769A |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,297,875 (GRCm39) |
K1141* |
probably null |
Het |
Synpo2 |
T |
C |
3: 122,911,315 (GRCm39) |
E110G |
probably benign |
Het |
Tg |
T |
A |
15: 66,722,351 (GRCm39) |
D333E |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,436,955 (GRCm39) |
Y148C |
probably damaging |
Het |
Tmem215 |
T |
A |
4: 40,473,965 (GRCm39) |
V14E |
probably damaging |
Het |
Tmem229b |
A |
G |
12: 79,011,685 (GRCm39) |
L82P |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,013,039 (GRCm39) |
T97A |
probably benign |
Het |
Trappc9 |
G |
A |
15: 72,565,397 (GRCm39) |
R965* |
probably null |
Het |
Trio |
T |
C |
15: 27,833,071 (GRCm39) |
I104V |
probably benign |
Het |
Trp73 |
A |
G |
4: 154,148,352 (GRCm39) |
F354S |
probably benign |
Het |
Ttyh2 |
T |
C |
11: 114,577,278 (GRCm39) |
L63P |
probably damaging |
Het |
Ulk4 |
G |
C |
9: 120,873,841 (GRCm39) |
P1197A |
probably damaging |
Het |
Vmn1r176 |
T |
C |
7: 23,534,536 (GRCm39) |
M206V |
possibly damaging |
Het |
Vps8 |
T |
A |
16: 21,285,226 (GRCm39) |
Y402* |
probably null |
Het |
Zbtb41 |
A |
G |
1: 139,350,931 (GRCm39) |
I15V |
probably benign |
Het |
Zc3hav1 |
T |
C |
6: 38,284,170 (GRCm39) |
I982V |
possibly damaging |
Het |
Zmynd19 |
T |
A |
2: 24,848,123 (GRCm39) |
N106K |
probably benign |
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 |
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 |
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'- CCAAGTGACGTGGATGCTGGAG -3'
(R):5'- GCCCAGCCAATAACAGGTCGAG -3'
Sequencing Primer
(F):5'- AAGTTCCTAAGCAGCTCCCT -3'
(R):5'- TCGAGATCAGAACGCTGTGC -3'
|
Posted On |
2014-04-13 |