Incidental Mutation 'R8799:Ccdc40'
| ID |
671455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc40
|
| Ensembl Gene |
ENSMUSG00000039963 |
| Gene Name |
coiled-coil domain containing 40 |
| Synonyms |
B930008I02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R8799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119119398-119156064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119155292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1177
(S1177R)
|
| 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: S1177R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: S1177R
| 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: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
T |
A |
11: 83,331,578 (GRCm39) |
C134S |
probably damaging |
Het |
| Acox3 |
T |
G |
5: 35,747,052 (GRCm39) |
F156L |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,474 (GRCm39) |
E1428G |
probably benign |
Het |
| Arhgap40 |
A |
T |
2: 158,354,758 (GRCm39) |
M15L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,177,173 (GRCm39) |
F2020L |
probably damaging |
Het |
| BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,355 (GRCm39) |
R294S |
probably benign |
Het |
| Cib1 |
A |
C |
7: 79,882,291 (GRCm39) |
S6R |
probably damaging |
Het |
| Csnk2a1 |
A |
G |
2: 152,099,886 (GRCm39) |
E114G |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,354,128 (GRCm39) |
|
probably benign |
Het |
| Decr2 |
A |
C |
17: 26,307,911 (GRCm39) |
I47M |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,327,027 (GRCm39) |
|
probably null |
Het |
| Dse |
G |
A |
10: 34,060,149 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,708,981 (GRCm39) |
V1480A |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,805,755 (GRCm39) |
I165M |
probably benign |
Het |
| Fan1 |
G |
T |
7: 64,016,406 (GRCm39) |
Q573K |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,793,955 (GRCm39) |
T906I |
probably benign |
Het |
| Gm21915 |
A |
C |
9: 40,582,006 (GRCm39) |
H33P |
possibly damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Lama3 |
G |
T |
18: 12,624,000 (GRCm39) |
Q1384H |
probably damaging |
Het |
| Lrrc34 |
C |
T |
3: 30,678,979 (GRCm39) |
E373K |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,178,785 (GRCm39) |
F677L |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,588,673 (GRCm39) |
D493G |
probably benign |
Het |
| Mta3 |
A |
T |
17: 84,096,369 (GRCm39) |
I348F |
possibly damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,205 (GRCm39) |
F170L |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,539,083 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
A |
T |
4: 41,023,727 (GRCm39) |
E1045D |
probably damaging |
Het |
| Npffr2 |
T |
G |
5: 89,731,177 (GRCm39) |
V369G |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,061,854 (GRCm39) |
C95R |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,985 (GRCm39) |
M267K |
possibly damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,528 (GRCm39) |
I283N |
probably damaging |
Het |
| Or5t18 |
A |
T |
2: 86,636,575 (GRCm39) |
M256K |
probably damaging |
Het |
| Or5w13 |
G |
T |
2: 87,524,057 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 120,691,894 (GRCm39) |
E41K |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,501,400 (GRCm39) |
V385A |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,567,623 (GRCm39) |
T673M |
possibly damaging |
Het |
| Rbm20 |
G |
T |
19: 53,821,120 (GRCm39) |
C525F |
probably damaging |
Het |
| Rnf17 |
A |
T |
14: 56,737,886 (GRCm39) |
E1222D |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 51,922,143 (GRCm39) |
A2331V |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,615,819 (GRCm39) |
I24N |
probably damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,850 (GRCm39) |
V29A |
possibly damaging |
Het |
| Shisa3 |
T |
A |
5: 67,768,749 (GRCm39) |
Y216* |
probably null |
Het |
| Slc22a2 |
A |
T |
17: 12,831,425 (GRCm39) |
Y405F |
probably benign |
Het |
| Slc2a12 |
A |
T |
10: 22,568,105 (GRCm39) |
M511L |
possibly damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,840,136 (GRCm39) |
H338Q |
probably damaging |
Het |
| Slco1c1 |
T |
G |
6: 141,505,531 (GRCm39) |
S486A |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,461,524 (GRCm39) |
S1524P |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,184,140 (GRCm39) |
S561P |
possibly damaging |
Het |
| Stac3 |
T |
A |
10: 127,340,781 (GRCm39) |
M182K |
probably damaging |
Het |
| Stt3b |
T |
C |
9: 115,077,685 (GRCm39) |
E689G |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,248,091 (GRCm39) |
K271E |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,116,708 (GRCm39) |
Y309H |
probably benign |
Het |
| Tbc1d5 |
TGC |
TGCCGC |
17: 51,106,969 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TG |
TGCGG |
17: 51,106,978 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TGC |
TGCGGC |
17: 51,106,963 (GRCm39) |
|
probably benign |
Het |
| Tmem101 |
A |
G |
11: 102,044,336 (GRCm39) |
F184L |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,772,166 (GRCm39) |
Q273R |
probably benign |
Het |
| Zfyve28 |
A |
G |
5: 34,390,670 (GRCm39) |
L197P |
probably 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 |
|
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 |
|
|
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 |
|
| Posted On |
2021-04-30 |
Incidental Mutation