Incidental Mutation 'R6072:Ccdc57'
| ID |
482548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc57
|
| Ensembl Gene |
ENSMUSG00000048445 |
| Gene Name |
coiled-coil domain containing 57 |
| Synonyms |
4933434G05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6072 (G1)
|
| Quality Score |
101.008 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120717355-120823698 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120792901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 284
(K284N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056781]
|
| AlphaFold |
Q6PHN1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056781
AA Change: K284N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: K284N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,357 (GRCm39) |
M92K |
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,987,481 (GRCm39) |
C1256S |
probably damaging |
Het |
| Asic2 |
A |
G |
11: 80,784,914 (GRCm39) |
S291P |
probably damaging |
Het |
| Asph |
A |
G |
4: 9,643,533 (GRCm39) |
|
probably null |
Het |
| Cfap210 |
A |
T |
2: 69,602,402 (GRCm39) |
D336E |
probably benign |
Het |
| Dnm3 |
CAGCCTTCGTTGGGTG |
C |
1: 161,838,637 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,389,750 (GRCm39) |
S558N |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,614 (GRCm39) |
Q221L |
probably damaging |
Het |
| Gm10146 |
A |
G |
10: 78,229,332 (GRCm39) |
|
noncoding transcript |
Het |
| Gys2 |
T |
G |
6: 142,374,263 (GRCm39) |
D594A |
probably damaging |
Het |
| Irf9 |
A |
G |
14: 55,843,284 (GRCm39) |
E114G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,248,609 (GRCm39) |
K1082T |
probably damaging |
Het |
| Krt14 |
C |
T |
11: 100,097,992 (GRCm39) |
G97D |
unknown |
Het |
| Lmo7 |
A |
T |
14: 102,166,772 (GRCm39) |
|
probably benign |
Het |
| Nckap5l |
A |
T |
15: 99,324,535 (GRCm39) |
L656Q |
probably damaging |
Het |
| Ndufs8 |
T |
C |
19: 3,959,275 (GRCm39) |
T129A |
probably damaging |
Het |
| Nosip |
G |
A |
7: 44,726,072 (GRCm39) |
V187M |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,606 (GRCm39) |
Y132N |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,786,718 (GRCm39) |
V29I |
probably benign |
Het |
| Phf3 |
A |
C |
1: 30,869,769 (GRCm39) |
N426K |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,353 (GRCm39) |
S151P |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,503,539 (GRCm39) |
S1164P |
probably damaging |
Het |
| Rcan1 |
T |
C |
16: 92,262,815 (GRCm39) |
D51G |
probably benign |
Het |
| Rem1 |
A |
G |
2: 152,476,437 (GRCm39) |
T232A |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,738,052 (GRCm39) |
I59F |
probably damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,925,357 (GRCm39) |
K491E |
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,561,943 (GRCm39) |
D158E |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,611,417 (GRCm39) |
N1510S |
probably damaging |
Het |
| Taf1d |
T |
C |
9: 15,222,856 (GRCm39) |
S241P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,499,434 (GRCm39) |
D1921G |
possibly damaging |
Het |
| Tmem147 |
A |
T |
7: 30,427,445 (GRCm39) |
M99K |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,582,758 (GRCm39) |
E130G |
possibly damaging |
Het |
| Tyw1 |
T |
C |
5: 130,296,752 (GRCm39) |
V123A |
possibly damaging |
Het |
| Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
probably damaging |
Het |
| Zfp683 |
T |
C |
4: 133,783,057 (GRCm39) |
Y174H |
probably benign |
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 |
|
R5204:Ccdc57
|
UTSW |
11 |
120,776,888 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5993:Ccdc57
|
UTSW |
11 |
120,785,550 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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'- AAGGGCGTTCTTCTCCTTGG -3'
(R):5'- CATCTGTTTTCCATGGCTGG -3'
Sequencing Primer
(F):5'- GGCGTCCTCTGCTCTTGTG -3'
(R):5'- CATCTGTTTTCCATGGCTGGTCAAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation