Incidental Mutation 'R7627:Ccdc15'
ID |
589504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc15
|
Ensembl Gene |
ENSMUSG00000034303 |
Gene Name |
coiled-coil domain containing 15 |
Synonyms |
A630039F14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R7627 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
37187131-37259728 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37253698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 184
(C184S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037275]
[ENSMUST00000213633]
[ENSMUST00000215116]
[ENSMUST00000216042]
[ENSMUST00000217238]
|
AlphaFold |
Q8C9M2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037275
|
SMART Domains |
Protein: ENSMUSP00000036784 Gene: ENSMUSG00000034303
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
low complexity region
|
95 |
109 |
N/A |
INTRINSIC |
coiled coil region
|
173 |
202 |
N/A |
INTRINSIC |
coiled coil region
|
652 |
686 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213633
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215116
|
Predicted Effect |
unknown
Transcript: ENSMUST00000216042
AA Change: C184S
|
Predicted Effect |
unknown
Transcript: ENSMUST00000217238
AA Change: C197S
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Gene trapped(2) |
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230112D13Rik |
T |
A |
14: 34,234,055 (GRCm39) |
I79L |
unknown |
Het |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Acvrl1 |
G |
A |
15: 101,033,747 (GRCm39) |
R143Q |
probably benign |
Het |
Adam22 |
A |
G |
5: 8,417,933 (GRCm39) |
S8P |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,617,690 (GRCm39) |
I2054T |
possibly damaging |
Het |
Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
Cad |
T |
A |
5: 31,217,508 (GRCm39) |
L354Q |
probably damaging |
Het |
Ccl8 |
A |
G |
11: 82,006,865 (GRCm39) |
D26G |
probably benign |
Het |
Ccsap |
T |
C |
8: 124,569,097 (GRCm39) |
Y248C |
probably damaging |
Het |
Col5a1 |
T |
G |
2: 27,840,665 (GRCm39) |
Y271* |
probably null |
Het |
Dnmt3b |
A |
G |
2: 153,519,500 (GRCm39) |
N695S |
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,156,140 (GRCm39) |
C234R |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,101,111 (GRCm39) |
D2758E |
probably benign |
Het |
Eif2ak3 |
A |
T |
6: 70,869,919 (GRCm39) |
T869S |
probably benign |
Het |
Foxn4 |
G |
T |
5: 114,398,495 (GRCm39) |
P175H |
possibly damaging |
Het |
Gbp5 |
T |
G |
3: 142,206,319 (GRCm39) |
M1R |
probably null |
Het |
Glp2r |
G |
T |
11: 67,637,589 (GRCm39) |
L30I |
unknown |
Het |
Gls |
A |
T |
1: 52,205,425 (GRCm39) |
D639E |
probably benign |
Het |
Gm5145 |
G |
T |
17: 20,790,654 (GRCm39) |
E11* |
probably null |
Het |
Gm9772 |
T |
A |
17: 22,226,160 (GRCm39) |
K41N |
probably damaging |
Het |
Gnat3 |
A |
T |
5: 18,204,746 (GRCm39) |
D133V |
|
Het |
Gse1 |
C |
A |
8: 121,299,516 (GRCm39) |
P849T |
unknown |
Het |
H2ac15 |
C |
A |
13: 21,937,916 (GRCm39) |
V28L |
probably benign |
Het |
Hoxb9 |
A |
G |
11: 96,165,521 (GRCm39) |
T197A |
probably damaging |
Het |
Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
Leng9 |
A |
G |
7: 4,151,617 (GRCm39) |
L353P |
probably damaging |
Het |
Mamdc2 |
A |
T |
19: 23,288,355 (GRCm39) |
M561K |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,458,225 (GRCm39) |
V395A |
probably damaging |
Het |
Mrpl32 |
G |
A |
13: 14,787,498 (GRCm39) |
R36C |
probably benign |
Het |
Or6b2b |
A |
T |
1: 92,419,107 (GRCm39) |
Y123* |
probably null |
Het |
Or7e168 |
A |
G |
9: 19,719,947 (GRCm39) |
D111G |
probably damaging |
Het |
Papss1 |
T |
A |
3: 131,290,873 (GRCm39) |
D205E |
probably benign |
Het |
Pdlim2 |
T |
C |
14: 70,408,924 (GRCm39) |
D151G |
probably benign |
Het |
Pdxp |
T |
C |
15: 78,798,339 (GRCm39) |
V57A |
probably damaging |
Het |
Plec |
T |
A |
15: 76,061,594 (GRCm39) |
E2781V |
probably damaging |
Het |
Prr7 |
GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC |
GCGCCGCCGCAC |
13: 55,620,147 (GRCm39) |
|
probably benign |
Het |
Rnf32 |
G |
A |
5: 29,402,948 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,776,213 (GRCm39) |
V1108A |
possibly damaging |
Het |
Slc4a8 |
A |
G |
15: 100,686,104 (GRCm39) |
H276R |
probably benign |
Het |
Slco1a7 |
C |
T |
6: 141,690,271 (GRCm39) |
V161I |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,032,944 (GRCm39) |
D1000E |
probably damaging |
Het |
Sva |
C |
A |
6: 42,019,598 (GRCm39) |
Q153K |
unknown |
Het |
Tmprss11d |
T |
C |
5: 86,457,365 (GRCm39) |
Y236C |
possibly damaging |
Het |
Zfp160 |
T |
C |
17: 21,247,270 (GRCm39) |
S607P |
probably damaging |
Het |
Zfp82 |
C |
A |
7: 29,756,147 (GRCm39) |
G312W |
probably damaging |
Het |
|
Other mutations in Ccdc15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Ccdc15
|
APN |
9 |
37,231,769 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00823:Ccdc15
|
APN |
9 |
37,231,709 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00979:Ccdc15
|
APN |
9 |
37,227,786 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01380:Ccdc15
|
APN |
9 |
37,187,853 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01832:Ccdc15
|
APN |
9 |
37,222,640 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01845:Ccdc15
|
APN |
9 |
37,226,532 (GRCm39) |
nonsense |
probably null |
|
IGL02375:Ccdc15
|
APN |
9 |
37,215,628 (GRCm39) |
missense |
probably damaging |
0.99 |
F6893:Ccdc15
|
UTSW |
9 |
37,226,936 (GRCm39) |
missense |
probably damaging |
0.97 |
FR4304:Ccdc15
|
UTSW |
9 |
37,226,453 (GRCm39) |
frame shift |
probably null |
|
FR4449:Ccdc15
|
UTSW |
9 |
37,226,454 (GRCm39) |
frame shift |
probably null |
|
R1743:Ccdc15
|
UTSW |
9 |
37,188,773 (GRCm39) |
nonsense |
probably null |
|
R1848:Ccdc15
|
UTSW |
9 |
37,253,866 (GRCm39) |
missense |
probably benign |
0.00 |
R1968:Ccdc15
|
UTSW |
9 |
37,259,091 (GRCm39) |
missense |
probably benign |
0.05 |
R2006:Ccdc15
|
UTSW |
9 |
37,226,768 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2372:Ccdc15
|
UTSW |
9 |
37,226,801 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2932:Ccdc15
|
UTSW |
9 |
37,226,954 (GRCm39) |
missense |
probably benign |
0.00 |
R3962:Ccdc15
|
UTSW |
9 |
37,231,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R5585:Ccdc15
|
UTSW |
9 |
37,188,699 (GRCm39) |
missense |
probably benign |
0.00 |
R5919:Ccdc15
|
UTSW |
9 |
37,231,692 (GRCm39) |
critical splice donor site |
probably null |
|
R6000:Ccdc15
|
UTSW |
9 |
37,227,060 (GRCm39) |
missense |
probably benign |
0.00 |
R6198:Ccdc15
|
UTSW |
9 |
37,225,581 (GRCm39) |
critical splice donor site |
probably null |
|
R6476:Ccdc15
|
UTSW |
9 |
37,253,715 (GRCm39) |
missense |
probably benign |
0.04 |
R7098:Ccdc15
|
UTSW |
9 |
37,255,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R7485:Ccdc15
|
UTSW |
9 |
37,226,574 (GRCm39) |
missense |
probably benign |
|
R7548:Ccdc15
|
UTSW |
9 |
37,188,723 (GRCm39) |
missense |
probably benign |
0.45 |
R7807:Ccdc15
|
UTSW |
9 |
37,226,678 (GRCm39) |
missense |
probably benign |
0.07 |
R8157:Ccdc15
|
UTSW |
9 |
37,226,753 (GRCm39) |
missense |
probably benign |
|
R8230:Ccdc15
|
UTSW |
9 |
37,226,555 (GRCm39) |
missense |
probably benign |
|
R9492:Ccdc15
|
UTSW |
9 |
37,215,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R9645:Ccdc15
|
UTSW |
9 |
37,227,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTTCAGTAAGAGGCCGTG -3'
(R):5'- CCATGCAGTATTCAGATTTGGC -3'
Sequencing Primer
(F):5'- GGCCGTGCCTCAATATGTAAG -3'
(R):5'- TGGCACATTTATCTTCTAAAAGGAC -3'
|
Posted On |
2019-10-24 |