Incidental Mutation 'R2372:Ccdc15'
ID |
248173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc15
|
Ensembl Gene |
ENSMUSG00000034303 |
Gene Name |
coiled-coil domain containing 15 |
Synonyms |
A630039F14Rik |
MMRRC Submission |
040352-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R2372 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
37187131-37259728 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37226801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 378
(D378G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037275]
[ENSMUST00000213633]
[ENSMUST00000215116]
|
AlphaFold |
Q8C9M2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037275
AA Change: D391G
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000036784 Gene: ENSMUSG00000034303 AA Change: D391G
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 |
possibly damaging
Transcript: ENSMUST00000213633
AA Change: D378G
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215116
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217440
|
Meta Mutation Damage Score |
0.0594 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
All alleles(2) : Gene trapped(2) |
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,819,133 (GRCm39) |
|
probably null |
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 |
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 |
R7627:Ccdc15
|
UTSW |
9 |
37,253,698 (GRCm39) |
missense |
unknown |
|
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'- GGGGAAACTGTTCTCTAGGTAG -3'
(R):5'- CTAGGTGTTGAGCCAGACAC -3'
Sequencing Primer
(F):5'- GAAACTGTTCTCTAGGTAGGAGATCC -3'
(R):5'- TGTTGAGCCAGACACCCAGG -3'
|
Posted On |
2014-11-11 |