Incidental Mutation 'R8164:Ccdc57'
| ID |
633680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc57
|
| Ensembl Gene |
ENSMUSG00000048445 |
| Gene Name |
coiled-coil domain containing 57 |
| Synonyms |
4933434G05Rik |
| MMRRC Submission |
067590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120717355-120823698 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120788788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 353
(R353H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056781]
|
| AlphaFold |
Q6PHN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056781
AA Change: R353H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: R353H
| 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 |
|
| Meta Mutation Damage Score |
0.1059 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,767,454 (GRCm39) |
V347A |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,565,799 (GRCm39) |
I4808F |
probably damaging |
Het |
| Acaa2 |
C |
A |
18: 74,928,318 (GRCm39) |
Y182* |
probably null |
Het |
| Ankrd44 |
A |
T |
1: 54,703,138 (GRCm39) |
N644K |
probably damaging |
Het |
| Aurkaip1 |
T |
A |
4: 155,916,962 (GRCm39) |
M70K |
probably damaging |
Het |
| Brinp1 |
A |
T |
4: 68,681,158 (GRCm39) |
Y457* |
probably null |
Het |
| Brox |
A |
T |
1: 183,062,491 (GRCm39) |
C288S |
possibly damaging |
Het |
| Cdhr1 |
A |
T |
14: 36,801,499 (GRCm39) |
S815T |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,989,691 (GRCm39) |
I101M |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,150,334 (GRCm39) |
T222A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,460,449 (GRCm39) |
D452E |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,837 (GRCm39) |
I2463T |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,582,794 (GRCm39) |
T326A |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gcdh |
A |
G |
8: 85,619,181 (GRCm39) |
S128P |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,524,517 (GRCm39) |
R256Q |
probably benign |
Het |
| Igkv2-109 |
A |
G |
6: 68,279,853 (GRCm39) |
T25A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,849 (GRCm39) |
V868D |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,760,518 (GRCm39) |
F286L |
probably damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,199 (GRCm39) |
N219Y |
probably damaging |
Het |
| Mei4 |
A |
G |
9: 81,809,642 (GRCm39) |
K242E |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,014 (GRCm39) |
M253V |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,274,457 (GRCm39) |
V1277A |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,966,566 (GRCm39) |
W1335R |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,797 (GRCm39) |
H88L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,593,339 (GRCm39) |
V675M |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,119,243 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or1p1b |
A |
T |
11: 74,130,786 (GRCm39) |
Y132F |
probably damaging |
Het |
| P2ry12 |
C |
T |
3: 59,125,037 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhb21 |
C |
A |
18: 37,649,057 (GRCm39) |
P729T |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf39 |
C |
G |
17: 37,254,292 (GRCm39) |
R105G |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,711 (GRCm39) |
V382M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,512,684 (GRCm39) |
T1362A |
probably benign |
Het |
| Slc2a13 |
A |
G |
15: 91,160,281 (GRCm39) |
Y558H |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,060 (GRCm39) |
N301K |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,172,895 (GRCm39) |
T1789N |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,226,702 (GRCm39) |
A1261V |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,833,495 (GRCm39) |
Y789* |
probably null |
Het |
| Tmprss11c |
T |
A |
5: 86,379,712 (GRCm39) |
I399F |
probably damaging |
Het |
| Tnfrsf25 |
C |
T |
4: 152,201,877 (GRCm39) |
T118I |
possibly damaging |
Het |
| Trpc4 |
A |
T |
3: 54,223,226 (GRCm39) |
M721L |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,248,368 (GRCm39) |
K5R |
probably benign |
Het |
| Wdr24 |
C |
A |
17: 26,044,923 (GRCm39) |
|
probably null |
Het |
| Zc3hc1 |
A |
T |
6: 30,390,895 (GRCm39) |
I36K |
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 |
|
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 |
|
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'- TGTCTGCAGGAAACACTCAGC -3'
(R):5'- AGTTAACAGTAGCTTGGCTGGC -3'
Sequencing Primer
(F):5'- ACTCAGCATGGGTGACTGC -3'
(R):5'- CTGCTGGATGTTTCTTCCTGAGTAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation