Incidental Mutation 'R7212:Ccdc40'
| ID |
561166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
045340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R7212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119155270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 1170
(Q1170R)
|
| 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 damaging
Transcript: ENSMUST00000035935
AA Change: Q1170R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: Q1170R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (70/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
C |
T |
6: 83,138,654 (GRCm39) |
A193V |
probably benign |
Het |
| Aatf |
C |
T |
11: 84,340,006 (GRCm39) |
R435Q |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,248,854 (GRCm39) |
H2867R |
probably benign |
Het |
| Abcd2 |
C |
T |
15: 91,043,326 (GRCm39) |
A621T |
possibly damaging |
Het |
| Actl11 |
T |
A |
9: 107,805,856 (GRCm39) |
S60T |
probably damaging |
Het |
| Adam28 |
T |
A |
14: 68,874,846 (GRCm39) |
N277I |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,896,326 (GRCm39) |
C1240S |
probably damaging |
Het |
| Arhgap27 |
C |
T |
11: 103,251,581 (GRCm39) |
R49Q |
probably damaging |
Het |
| Armc10 |
T |
C |
5: 21,865,581 (GRCm39) |
S209P |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,934,783 (GRCm39) |
F617L |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,973,580 (GRCm39) |
N2K |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,102,158 (GRCm39) |
N1363K |
|
Het |
| Cass4 |
T |
A |
2: 172,269,106 (GRCm39) |
L396* |
probably null |
Het |
| Cdhr5 |
C |
T |
7: 140,852,572 (GRCm39) |
R348H |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,790,109 (GRCm39) |
S647P |
probably benign |
Het |
| Chordc1 |
T |
A |
9: 18,206,647 (GRCm39) |
|
probably null |
Het |
| Chordc1 |
T |
C |
9: 18,212,308 (GRCm39) |
S41P |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,148,978 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
C |
3: 144,711,727 (GRCm39) |
I756S |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,268,323 (GRCm39) |
V165A |
possibly damaging |
Het |
| Clec4a4 |
T |
A |
6: 122,968,704 (GRCm39) |
|
probably null |
Het |
| Cog7 |
T |
C |
7: 121,576,537 (GRCm39) |
K130E |
probably damaging |
Het |
| Coq7 |
A |
G |
7: 118,109,271 (GRCm39) |
I259T |
unknown |
Het |
| Cp |
T |
C |
3: 20,029,130 (GRCm39) |
S536P |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,447 (GRCm39) |
|
probably null |
Het |
| Dcst2 |
A |
G |
3: 89,273,607 (GRCm39) |
I162V |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,721,228 (GRCm39) |
E630G |
probably damaging |
Het |
| Dpt |
A |
T |
1: 164,624,484 (GRCm39) |
I62F |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,444 (GRCm39) |
I157F |
probably damaging |
Het |
| Ext1 |
A |
T |
15: 53,208,558 (GRCm39) |
W68R |
probably benign |
Het |
| Fgf4 |
A |
G |
7: 144,416,523 (GRCm39) |
K152E |
probably benign |
Het |
| G530012D18Rik |
A |
T |
1: 85,504,864 (GRCm39) |
T90S |
unknown |
Het |
| Galnt17 |
T |
C |
5: 130,992,949 (GRCm39) |
T322A |
possibly damaging |
Het |
| Gcm1 |
A |
T |
9: 77,966,925 (GRCm39) |
D48V |
possibly damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm49358 |
G |
T |
10: 86,661,071 (GRCm39) |
R353L |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,365,908 (GRCm39) |
E320G |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,758 (GRCm39) |
I1002T |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,111,845 (GRCm39) |
V7E |
possibly damaging |
Het |
| Hipk1 |
G |
A |
3: 103,684,926 (GRCm39) |
Q230* |
probably null |
Het |
| Igsf9b |
C |
T |
9: 27,242,992 (GRCm39) |
P726L |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,464,998 (GRCm39) |
I345V |
probably damaging |
Het |
| Lhx4 |
G |
T |
1: 155,600,699 (GRCm39) |
Q29K |
probably benign |
Het |
| Manba |
A |
G |
3: 135,273,396 (GRCm39) |
T777A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,337,145 (GRCm39) |
D1360G |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
| Mmp14 |
T |
G |
14: 54,673,336 (GRCm39) |
D81E |
probably damaging |
Het |
| Naalad2 |
T |
C |
9: 18,275,337 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Or7a38 |
A |
T |
10: 78,753,339 (GRCm39) |
I222L |
possibly damaging |
Het |
| Or8b35 |
T |
A |
9: 37,904,253 (GRCm39) |
M150K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,025,312 (GRCm39) |
D488G |
possibly damaging |
Het |
| Prr5 |
T |
G |
15: 84,629,993 (GRCm39) |
L108R |
probably null |
Het |
| Psg23 |
A |
G |
7: 18,341,064 (GRCm39) |
S397P |
probably benign |
Het |
| Rfpl4 |
C |
A |
7: 5,113,659 (GRCm39) |
R174L |
probably damaging |
Het |
| Runx3 |
T |
A |
4: 134,880,090 (GRCm39) |
I3N |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,372,451 (GRCm39) |
N214K |
possibly damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,037,092 (GRCm39) |
I412T |
probably damaging |
Het |
| Sptbn4 |
T |
G |
7: 27,116,210 (GRCm39) |
T530P |
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,060,854 (GRCm39) |
R95* |
probably null |
Het |
| Tex15 |
T |
C |
8: 34,063,023 (GRCm39) |
S818P |
probably damaging |
Het |
| Tmod1 |
A |
T |
4: 46,093,951 (GRCm39) |
K221* |
probably null |
Het |
| Tpm3 |
G |
A |
3: 89,998,361 (GRCm39) |
D272N |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,131 (GRCm39) |
C512S |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,215,268 (GRCm39) |
E417V |
probably benign |
Het |
| Wfdc11 |
T |
C |
2: 164,506,366 (GRCm39) |
N60S |
probably benign |
Het |
| Zfp217 |
A |
T |
2: 169,956,072 (GRCm39) |
S975R |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,309 (GRCm39) |
Q287* |
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 |
|
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'- AGAACCTTCTGGAGATCGTGAC -3'
(R):5'- CAGCAGAGAGGCTTTGAATCAC -3'
Sequencing Primer
(F):5'- TTCTGGAGATCGTGACCCTGC -3'
(R):5'- CAGAGAGGCTTTGAATCACGTGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation