Incidental Mutation 'R8877:Ccdc40'
| ID |
676648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| MMRRC Submission |
068745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R8877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119153992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 1088
(S1088L)
|
| 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: S1088L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: S1088L
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| 2900092C05Rik |
T |
A |
7: 12,288,704 (GRCm39) |
|
probably null |
Het |
| Acp2 |
G |
A |
2: 91,036,129 (GRCm39) |
R109H |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,862,688 (GRCm39) |
S298P |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,517,548 (GRCm39) |
V157A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,740,904 (GRCm39) |
K181E |
probably damaging |
Het |
| Armt1 |
A |
G |
10: 4,400,864 (GRCm39) |
T204A |
possibly damaging |
Het |
| Brip1 |
A |
C |
11: 86,043,532 (GRCm39) |
V344G |
possibly damaging |
Het |
| Ccdc93 |
A |
T |
1: 121,403,867 (GRCm39) |
H332L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,706,877 (GRCm39) |
D1120G |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,077,985 (GRCm39) |
I631N |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,637,197 (GRCm39) |
A1354T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,541,692 (GRCm39) |
L10P |
probably damaging |
Het |
| Creg2 |
G |
T |
1: 39,689,861 (GRCm39) |
T83K |
probably benign |
Het |
| Ddit3 |
T |
C |
10: 127,131,884 (GRCm39) |
I144T |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,011,292 (GRCm39) |
I1150V |
possibly damaging |
Het |
| Eprs1 |
C |
T |
1: 185,148,071 (GRCm39) |
R1278* |
probably null |
Het |
| Esco1 |
A |
G |
18: 10,575,017 (GRCm39) |
V685A |
probably damaging |
Het |
| Gid8 |
C |
T |
2: 180,358,710 (GRCm39) |
A125V |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,710,941 (GRCm39) |
D208G |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,503,699 (GRCm39) |
I679V |
probably damaging |
Het |
| Gsto2 |
C |
A |
19: 47,873,176 (GRCm39) |
R184S |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,770,854 (GRCm39) |
H830Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,514,659 (GRCm39) |
T3571I |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,131,782 (GRCm39) |
V568A |
possibly damaging |
Het |
| Kif13a |
T |
A |
13: 46,954,921 (GRCm39) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,193,835 (GRCm39) |
V161A |
probably benign |
Het |
| Larp6 |
T |
A |
9: 60,644,850 (GRCm39) |
M330K |
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
| Mavs |
A |
G |
2: 131,087,489 (GRCm39) |
N329S |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,221,630 (GRCm39) |
N193K |
possibly damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,322,468 (GRCm39) |
R12* |
probably null |
Het |
| Mttp |
A |
T |
3: 137,818,317 (GRCm39) |
D380E |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,459,311 (GRCm39) |
T1939I |
probably damaging |
Het |
| Nsun7 |
A |
T |
5: 66,453,294 (GRCm39) |
R670* |
probably null |
Het |
| Obsl1 |
G |
A |
1: 75,473,167 (GRCm39) |
R1019* |
probably null |
Het |
| Or10ak12 |
A |
G |
4: 118,666,482 (GRCm39) |
V193A |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,212 (GRCm39) |
M19T |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,271 (GRCm39) |
V922I |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,951 (GRCm39) |
V190A |
possibly damaging |
Het |
| Plekhg2 |
G |
T |
7: 28,060,278 (GRCm39) |
T993N |
possibly damaging |
Het |
| Psg26 |
C |
T |
7: 18,217,865 (GRCm39) |
V18I |
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,419,424 (GRCm39) |
Y187C |
probably damaging |
Het |
| Smarcd3 |
A |
G |
5: 24,798,990 (GRCm39) |
S323P |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,199,137 (GRCm39) |
Y3163* |
probably null |
Het |
| Stx4a |
T |
A |
7: 127,447,633 (GRCm39) |
V259D |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,087,941 (GRCm39) |
S1331P |
probably damaging |
Het |
| Tmprss11c |
G |
A |
5: 86,385,540 (GRCm39) |
Q311* |
probably null |
Het |
| Tpo |
T |
A |
12: 30,142,738 (GRCm39) |
N662I |
probably damaging |
Het |
| Trav13d-4 |
C |
A |
14: 53,995,350 (GRCm39) |
D101E |
probably damaging |
Het |
| Trbv14 |
G |
A |
6: 41,112,292 (GRCm39) |
A30T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,567,144 (GRCm39) |
S917P |
possibly damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,856,319 (GRCm39) |
C466* |
probably null |
Het |
| Zfp462 |
T |
C |
4: 55,011,097 (GRCm39) |
V1021A |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,682,017 (GRCm39) |
M72T |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,674,416 (GRCm39) |
E122K |
unknown |
Het |
| Zfyve26 |
T |
C |
12: 79,334,152 (GRCm39) |
K289E |
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 |
|
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 |
|
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'- TTGGCTGATCCTTAGCCAGC -3'
(R):5'- TCGAGATCAGAACGCTGTG -3'
Sequencing Primer
(F):5'- AGCACCTCTGTCTGCCAAGTG -3'
(R):5'- GGTGCTCATTGGCCAAAGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation