Incidental Mutation 'R5204:Ccdc57'
ID |
478119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc57
|
Ensembl Gene |
ENSMUSG00000048445 |
Gene Name |
coiled-coil domain containing 57 |
Synonyms |
4933434G05Rik |
MMRRC Submission |
042779-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5204 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
120717355-120823698 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120776888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 504
(V504A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056781]
|
AlphaFold |
Q6PHN1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056781
AA Change: V504A
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000050996 Gene: ENSMUSG00000048445 AA Change: V504A
Domain | Start | End | E-Value | Type |
coiled coil region
|
14 |
174 |
N/A |
INTRINSIC |
coiled coil region
|
198 |
350 |
N/A |
INTRINSIC |
low complexity region
|
356 |
365 |
N/A |
INTRINSIC |
coiled coil region
|
380 |
489 |
N/A |
INTRINSIC |
coiled coil region
|
519 |
548 |
N/A |
INTRINSIC |
coiled coil region
|
575 |
607 |
N/A |
INTRINSIC |
low complexity region
|
620 |
639 |
N/A |
INTRINSIC |
internal_repeat_1
|
657 |
677 |
1.17e-5 |
PROSPERO |
low complexity region
|
763 |
774 |
N/A |
INTRINSIC |
low complexity region
|
787 |
798 |
N/A |
INTRINSIC |
internal_repeat_1
|
863 |
883 |
1.17e-5 |
PROSPERO |
low complexity region
|
915 |
923 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143895
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
A |
T |
11: 101,297,752 (GRCm39) |
L532Q |
probably damaging |
Het |
Abt1 |
G |
A |
13: 23,606,838 (GRCm39) |
R88C |
probably damaging |
Het |
Aopep |
G |
A |
13: 63,180,904 (GRCm39) |
V289I |
probably benign |
Het |
Arhgef7 |
T |
A |
8: 11,850,775 (GRCm39) |
L129* |
probably null |
Het |
Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
Bivm |
G |
C |
1: 44,177,738 (GRCm39) |
G346A |
probably damaging |
Het |
Cav1 |
T |
C |
6: 17,339,254 (GRCm39) |
L102P |
probably damaging |
Het |
Cd7 |
A |
T |
11: 120,928,860 (GRCm39) |
|
probably null |
Het |
Cdh3 |
T |
C |
8: 107,270,871 (GRCm39) |
V508A |
probably benign |
Het |
Chrd |
A |
T |
16: 20,554,822 (GRCm39) |
I413F |
probably benign |
Het |
Clec4b1 |
T |
A |
6: 123,048,494 (GRCm39) |
*210R |
probably null |
Het |
Clock |
A |
T |
5: 76,391,017 (GRCm39) |
|
probably null |
Het |
Col4a2 |
T |
A |
8: 11,448,651 (GRCm39) |
|
probably null |
Het |
Gpx7 |
T |
C |
4: 108,260,512 (GRCm39) |
T95A |
probably benign |
Het |
Hivep3 |
T |
A |
4: 119,961,053 (GRCm39) |
|
probably null |
Het |
Hrc |
A |
G |
7: 44,985,128 (GRCm39) |
Y93C |
possibly damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Klhl5 |
G |
T |
5: 65,288,781 (GRCm39) |
L14F |
possibly damaging |
Het |
Mcm6 |
A |
G |
1: 128,261,375 (GRCm39) |
L743P |
probably benign |
Het |
Nrxn1 |
A |
T |
17: 90,469,792 (GRCm39) |
F57Y |
probably damaging |
Het |
Or51af1 |
C |
T |
7: 103,141,747 (GRCm39) |
V113M |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdh20 |
G |
T |
14: 88,706,351 (GRCm39) |
D316E |
probably damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,569,142 (GRCm39) |
V96E |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,176,909 (GRCm39) |
L346M |
possibly damaging |
Het |
Pkhd1l1 |
A |
C |
15: 44,410,437 (GRCm39) |
N2648T |
possibly damaging |
Het |
Rufy1 |
C |
T |
11: 50,297,261 (GRCm39) |
R397Q |
probably damaging |
Het |
Sema5a |
G |
T |
15: 32,686,793 (GRCm39) |
M968I |
probably benign |
Het |
Slc33a1 |
A |
G |
3: 63,871,167 (GRCm39) |
Y149H |
probably damaging |
Het |
Tln2 |
T |
A |
9: 67,261,764 (GRCm39) |
R658S |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,090,385 (GRCm39) |
N274S |
possibly damaging |
Het |
Tor3a |
A |
G |
1: 156,483,270 (GRCm39) |
L384P |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,425,705 (GRCm39) |
L20* |
probably null |
Het |
Ttn |
T |
A |
2: 76,560,556 (GRCm39) |
I20955F |
probably damaging |
Het |
Usp15 |
A |
T |
10: 122,949,545 (GRCm39) |
S908R |
probably benign |
Het |
Zfp866 |
A |
G |
8: 70,218,690 (GRCm39) |
L310P |
probably damaging |
Het |
|
Other mutations in Ccdc57 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Ccdc57
|
APN |
11 |
120,751,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01069:Ccdc57
|
APN |
11 |
120,752,085 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02065:Ccdc57
|
APN |
11 |
120,764,586 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02143:Ccdc57
|
APN |
11 |
120,752,069 (GRCm39) |
nonsense |
probably null |
|
R0265:Ccdc57
|
UTSW |
11 |
120,812,637 (GRCm39) |
missense |
probably benign |
0.00 |
R1184:Ccdc57
|
UTSW |
11 |
120,764,637 (GRCm39) |
splice site |
probably benign |
|
R1792:Ccdc57
|
UTSW |
11 |
120,788,707 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1834:Ccdc57
|
UTSW |
11 |
120,752,045 (GRCm39) |
missense |
probably benign |
0.07 |
R1852:Ccdc57
|
UTSW |
11 |
120,812,499 (GRCm39) |
missense |
probably damaging |
0.98 |
R1914:Ccdc57
|
UTSW |
11 |
120,794,134 (GRCm39) |
splice site |
probably benign |
|
R2146:Ccdc57
|
UTSW |
11 |
120,776,051 (GRCm39) |
splice site |
probably benign |
|
R2341:Ccdc57
|
UTSW |
11 |
120,751,349 (GRCm39) |
missense |
probably benign |
0.00 |
R3013:Ccdc57
|
UTSW |
11 |
120,752,025 (GRCm39) |
missense |
probably benign |
0.01 |
R4798:Ccdc57
|
UTSW |
11 |
120,772,683 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4821:Ccdc57
|
UTSW |
11 |
120,751,225 (GRCm39) |
critical splice donor site |
probably null |
|
R4869:Ccdc57
|
UTSW |
11 |
120,794,344 (GRCm39) |
splice site |
probably null |
|
R4964:Ccdc57
|
UTSW |
11 |
120,751,978 (GRCm39) |
missense |
probably benign |
0.17 |
R4966:Ccdc57
|
UTSW |
11 |
120,751,978 (GRCm39) |
missense |
probably benign |
0.17 |
R5993:Ccdc57
|
UTSW |
11 |
120,785,550 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6072:Ccdc57
|
UTSW |
11 |
120,792,901 (GRCm39) |
missense |
probably damaging |
0.98 |
R6404:Ccdc57
|
UTSW |
11 |
120,785,538 (GRCm39) |
missense |
probably benign |
0.10 |
R6877:Ccdc57
|
UTSW |
11 |
120,764,528 (GRCm39) |
missense |
probably benign |
0.00 |
R7074:Ccdc57
|
UTSW |
11 |
120,794,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7102:Ccdc57
|
UTSW |
11 |
120,812,557 (GRCm39) |
nonsense |
probably null |
|
R7311:Ccdc57
|
UTSW |
11 |
120,764,567 (GRCm39) |
missense |
probably benign |
|
R8087:Ccdc57
|
UTSW |
11 |
120,788,705 (GRCm39) |
missense |
probably benign |
|
R8111:Ccdc57
|
UTSW |
11 |
120,769,713 (GRCm39) |
missense |
probably damaging |
0.99 |
R8164:Ccdc57
|
UTSW |
11 |
120,788,788 (GRCm39) |
missense |
probably benign |
0.00 |
R8273:Ccdc57
|
UTSW |
11 |
120,812,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R8316:Ccdc57
|
UTSW |
11 |
120,776,742 (GRCm39) |
missense |
probably damaging |
0.98 |
R8323:Ccdc57
|
UTSW |
11 |
120,788,750 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8388:Ccdc57
|
UTSW |
11 |
120,717,744 (GRCm39) |
missense |
probably benign |
|
R8768:Ccdc57
|
UTSW |
11 |
120,788,788 (GRCm39) |
missense |
probably benign |
0.00 |
R8957:Ccdc57
|
UTSW |
11 |
120,776,861 (GRCm39) |
missense |
probably benign |
|
R9245:Ccdc57
|
UTSW |
11 |
120,812,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R9281:Ccdc57
|
UTSW |
11 |
120,751,413 (GRCm39) |
missense |
probably benign |
0.19 |
R9422:Ccdc57
|
UTSW |
11 |
120,764,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9704:Ccdc57
|
UTSW |
11 |
120,764,531 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Ccdc57
|
UTSW |
11 |
120,751,964 (GRCm39) |
missense |
probably null |
|
Z1176:Ccdc57
|
UTSW |
11 |
120,751,314 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAACACTCTTCTGGCTGGG -3'
(R):5'- CCCACCTTCGAGAAAGTGTC -3'
Sequencing Primer
(F):5'- CTCTTCTGGCTGGGCAGGG -3'
(R):5'- GGGGTCTCTTTCAAATAAGCAGC -3'
|
Posted On |
2017-05-25 |