Incidental Mutation 'R3013:Ccdc57'
| ID |
257573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc57
|
| Ensembl Gene |
ENSMUSG00000048445 |
| Gene Name |
coiled-coil domain containing 57 |
| Synonyms |
4933434G05Rik |
| MMRRC Submission |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120717355-120823698 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120752025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 852
(V852A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056781]
|
| AlphaFold |
Q6PHN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056781
AA Change: V852A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: V852A
| 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: ENSMUST00000150640
|
| Meta Mutation Damage Score |
0.0885 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,111,759 (GRCm39) |
I201N |
possibly damaging |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Hspbp1 |
G |
T |
7: 4,666,483 (GRCm39) |
T299K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,025 (GRCm39) |
D114E |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,565,050 (GRCm39) |
F162S |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,285,966 (GRCm39) |
T374A |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,157 (GRCm39) |
D262G |
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 |
|
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 |
|
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'- AGTACCTGCTGGCAAATCCAC -3'
(R):5'- CAGATGAAGAACTCCGTCCCAG -3'
Sequencing Primer
(F):5'- CAGAGCAATGTGACCCTTTCTAAG -3'
(R):5'- GAACTCCGTCCCAGATTCAGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation