Incidental Mutation 'R2932:Ccdc15'
ID |
254976 |
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: 0.099)
|
Stock # |
R2932 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
37187131-37259728 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37226954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 327
(T327I)
|
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: T340I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000036784 Gene: ENSMUSG00000034303 AA Change: T340I
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
AA Change: T327I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215116
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217440
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Gene trapped(2) |
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
G |
6: 85,597,544 (GRCm39) |
D1259G |
possibly damaging |
Het |
Arpp21 |
T |
C |
9: 112,008,173 (GRCm39) |
D106G |
probably damaging |
Het |
Atp6v1a |
A |
G |
16: 43,909,406 (GRCm39) |
S542P |
probably benign |
Het |
Ccar1 |
T |
C |
10: 62,612,538 (GRCm39) |
N209S |
probably benign |
Het |
Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
Fat3 |
G |
A |
9: 16,287,240 (GRCm39) |
S761L |
probably damaging |
Het |
Loricrin |
AGCCGCCGCCGCCGCCGCCGCCGCCGCC |
AGCCGCCGCCGCCGCCGCCGCCGCC |
3: 91,989,185 (GRCm39) |
|
probably benign |
Het |
Lrrc1 |
T |
A |
9: 77,364,721 (GRCm39) |
H153L |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,931,935 (GRCm39) |
|
probably benign |
Het |
Mrgprb2 |
A |
G |
7: 48,202,194 (GRCm39) |
L177S |
probably benign |
Het |
Mtmr2 |
A |
T |
9: 13,660,413 (GRCm39) |
|
probably benign |
Het |
Mtnr1b |
A |
T |
9: 15,785,620 (GRCm39) |
V46E |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,103,418 (GRCm39) |
E207G |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,830,430 (GRCm39) |
S137P |
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,824,978 (GRCm39) |
I224V |
possibly damaging |
Het |
Oas1g |
T |
G |
5: 121,017,206 (GRCm39) |
K283Q |
probably benign |
Het |
Pex12 |
T |
A |
11: 83,187,049 (GRCm39) |
M300L |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,569,148 (GRCm39) |
V1237A |
possibly damaging |
Het |
Rc3h2 |
C |
A |
2: 37,268,371 (GRCm39) |
V920F |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
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 |
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'- GAGAACACAGTGACCTTTGGG -3'
(R):5'- GATGAACGAAAGCAATTACATCCTC -3'
Sequencing Primer
(F):5'- ACCTTTGGGTAAAGAATCCTGG -3'
(R):5'- GCAATTACATCCTCATAGCCTTCAGG -3'
|
Posted On |
2014-12-29 |