Incidental Mutation 'R1396:Ccdc40'
ID |
162660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc40
|
Ensembl Gene |
ENSMUSG00000039963 |
Gene Name |
coiled-coil domain containing 40 |
Synonyms |
B930008I02Rik |
MMRRC Submission |
039458-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R1396 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119122629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 144
(T144A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035935]
[ENSMUST00000036113]
[ENSMUST00000053440]
[ENSMUST00000207655]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035935
AA Change: T74A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000039463 Gene: ENSMUSG00000039963 AA Change: T74A
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: ENSMUST00000036113
|
SMART Domains |
Protein: ENSMUSP00000048516 Gene: ENSMUSG00000039976
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
Blast:TBC
|
63 |
362 |
5e-75 |
BLAST |
Blast:TBC
|
373 |
418 |
2e-13 |
BLAST |
TBC
|
421 |
659 |
4.39e-43 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053440
AA Change: T144A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000062198 Gene: ENSMUSG00000039963 AA Change: T144A
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: ENSMUST00000147037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150358
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207655
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
G |
A |
13: 61,001,057 (GRCm39) |
P160S |
probably benign |
Het |
Adamts12 |
G |
T |
15: 11,311,558 (GRCm39) |
D1272Y |
probably benign |
Het |
Akr1c20 |
A |
T |
13: 4,557,726 (GRCm39) |
V267D |
probably damaging |
Het |
C1s1 |
A |
G |
6: 124,508,010 (GRCm39) |
S660P |
probably damaging |
Het |
Ccdc202 |
A |
G |
14: 96,119,987 (GRCm39) |
N248S |
probably benign |
Het |
Cdk20 |
T |
C |
13: 64,585,217 (GRCm39) |
I167T |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,825,023 (GRCm39) |
L1212S |
probably damaging |
Het |
Clock |
G |
C |
5: 76,414,649 (GRCm39) |
D15E |
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,343,446 (GRCm39) |
V667A |
probably benign |
Het |
Cr2 |
A |
T |
1: 194,851,561 (GRCm39) |
|
probably null |
Het |
Cyp2e1 |
A |
G |
7: 140,352,992 (GRCm39) |
D343G |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Etf1 |
G |
A |
18: 35,041,220 (GRCm39) |
T298I |
possibly damaging |
Het |
Gm5431 |
T |
C |
11: 48,786,261 (GRCm39) |
|
probably benign |
Het |
Gss |
G |
A |
2: 155,409,641 (GRCm39) |
T265I |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,420,927 (GRCm39) |
S406L |
possibly damaging |
Het |
Hgsnat |
C |
A |
8: 26,447,363 (GRCm39) |
M310I |
possibly damaging |
Het |
Inpp5b |
G |
A |
4: 124,682,873 (GRCm39) |
R598H |
probably damaging |
Het |
Ints2 |
G |
T |
11: 86,140,074 (GRCm39) |
Q253K |
probably damaging |
Het |
Kng1 |
A |
G |
16: 22,897,730 (GRCm39) |
M377V |
probably benign |
Het |
Krt72 |
C |
T |
15: 101,694,440 (GRCm39) |
|
probably null |
Het |
Lemd2 |
G |
C |
17: 27,409,706 (GRCm39) |
R482G |
probably damaging |
Het |
Lrpprc |
C |
T |
17: 85,033,731 (GRCm39) |
D1049N |
possibly damaging |
Het |
Lrrc49 |
A |
T |
9: 60,587,810 (GRCm39) |
H117Q |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,279,213 (GRCm39) |
F191Y |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,033,949 (GRCm39) |
T252A |
possibly damaging |
Het |
Mgat4e |
T |
C |
1: 134,469,271 (GRCm39) |
T258A |
probably benign |
Het |
Mpeg1 |
A |
G |
19: 12,440,168 (GRCm39) |
N542S |
probably damaging |
Het |
Nln |
C |
T |
13: 104,198,261 (GRCm39) |
V184I |
probably benign |
Het |
Nova1 |
A |
C |
12: 46,863,676 (GRCm39) |
F91L |
unknown |
Het |
Polk |
T |
C |
13: 96,620,716 (GRCm39) |
I516V |
probably benign |
Het |
Ppig |
C |
T |
2: 69,579,362 (GRCm39) |
P357S |
unknown |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 156,992,236 (GRCm39) |
H552Q |
probably damaging |
Het |
Rnf41 |
G |
A |
10: 128,271,440 (GRCm39) |
E117K |
probably benign |
Het |
Sbk3 |
A |
G |
7: 4,970,452 (GRCm39) |
Y306H |
possibly damaging |
Het |
Senp1 |
A |
G |
15: 97,974,435 (GRCm39) |
S126P |
probably benign |
Het |
Sfr1 |
A |
G |
19: 47,722,129 (GRCm39) |
K182E |
probably benign |
Het |
Slc25a4 |
C |
A |
8: 46,662,325 (GRCm39) |
R111L |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,393,710 (GRCm39) |
Y551F |
probably benign |
Het |
Stard4 |
A |
T |
18: 33,339,263 (GRCm39) |
N80K |
probably damaging |
Het |
Tbk1 |
G |
A |
10: 121,407,821 (GRCm39) |
T104M |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tmem102 |
A |
T |
11: 69,695,196 (GRCm39) |
W259R |
probably damaging |
Het |
Tnk1 |
A |
T |
11: 69,743,962 (GRCm39) |
C466S |
probably benign |
Het |
Tspoap1 |
A |
C |
11: 87,656,946 (GRCm39) |
Q307P |
probably damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,159,389 (GRCm39) |
N528D |
possibly damaging |
Het |
Usp6nl |
A |
G |
2: 6,431,809 (GRCm39) |
|
probably null |
Het |
Vmn1r203 |
C |
T |
13: 22,708,678 (GRCm39) |
T153M |
probably benign |
Het |
Vmn1r89 |
T |
A |
7: 12,953,938 (GRCm39) |
S157T |
probably damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,013,230 (GRCm39) |
Y117F |
probably benign |
Het |
Vmn2r116 |
A |
C |
17: 23,605,115 (GRCm39) |
M143L |
probably benign |
Het |
Vmn2r62 |
A |
T |
7: 42,414,261 (GRCm39) |
D727E |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,862,304 (GRCm39) |
I2974V |
probably benign |
Het |
Wrn |
C |
T |
8: 33,758,847 (GRCm39) |
G769D |
probably damaging |
Het |
Zhx3 |
T |
A |
2: 160,622,940 (GRCm39) |
H409L |
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 |
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 |
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'- AATTGATGAGGGCAGAGACCCCAC -3'
(R):5'- TTTGGCGGATAGGCAACTGTGATAG -3'
Sequencing Primer
(F):5'- TCCTGAAGAGGACATTACAACTG -3'
(R):5'- GGCAACTGTGATAGATTCCAAGTC -3'
|
Posted On |
2014-03-17 |