Incidental Mutation 'IGL02660:C2cd6'
| ID |
302516 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
C2cd6
|
| Ensembl Gene |
ENSMUSG00000072295 |
| Gene Name |
C2 calcium dependent domain containing 6 |
| Synonyms |
Als2cr11, C2cd6b, Gm33589, 1700052H20Rik, Als2cr11b, 4930408G06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL02660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
59036275-59134059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59090389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 456
(Y456C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097080]
|
| AlphaFold |
A0A5F8MPU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097080
AA Change: Y456C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000094845
Gene: ENSMUSG00000072295
AA Change: Y456C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
126 |
N/A |
INTRINSIC |
|
Pfam:ALS2CR11
|
128 |
533 |
1.2e-180 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188707
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
A |
G |
15: 12,810,853 (GRCm39) |
L341P |
probably damaging |
Het |
| Abcd3 |
A |
C |
3: 121,577,669 (GRCm39) |
N206K |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,847 (GRCm39) |
D335G |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,823,816 (GRCm39) |
M150K |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,115,446 (GRCm39) |
D680G |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,402 (GRCm39) |
V1804D |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,216,340 (GRCm39) |
V311A |
probably damaging |
Het |
| C2cd4c |
T |
A |
10: 79,449,136 (GRCm39) |
T4S |
probably benign |
Het |
| Cbr1 |
A |
G |
16: 93,406,712 (GRCm39) |
S143G |
probably benign |
Het |
| Ccdc191 |
A |
G |
16: 43,780,462 (GRCm39) |
T815A |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,386,979 (GRCm39) |
Q1767L |
probably damaging |
Het |
| Col6a5 |
A |
C |
9: 105,814,085 (GRCm39) |
N642K |
unknown |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Ephb1 |
A |
T |
9: 101,918,291 (GRCm39) |
I406N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,127,868 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gm14403 |
A |
T |
2: 177,201,257 (GRCm39) |
H401L |
probably damaging |
Het |
| Gp6 |
T |
G |
7: 4,387,997 (GRCm39) |
R157S |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,122,833 (GRCm39) |
T514I |
probably benign |
Het |
| H2ac1 |
T |
C |
13: 24,118,608 (GRCm39) |
V55A |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,794,499 (GRCm39) |
I63T |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,349 (GRCm39) |
V169A |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,187,642 (GRCm39) |
T1193S |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,756,809 (GRCm39) |
|
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,264,920 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,435,787 (GRCm39) |
Y587H |
probably damaging |
Het |
| Scaf1 |
C |
A |
7: 44,661,542 (GRCm39) |
|
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,561,183 (GRCm39) |
F601Y |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,452 (GRCm39) |
I114T |
probably benign |
Het |
| Skint10 |
T |
A |
4: 112,622,227 (GRCm39) |
|
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,686,850 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,059,860 (GRCm39) |
L287P |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Trim5 |
C |
A |
7: 103,915,425 (GRCm39) |
R296L |
probably damaging |
Het |
| Vmn2r60 |
G |
T |
7: 41,791,720 (GRCm39) |
E548* |
probably null |
Het |
| Wdr26 |
A |
T |
1: 181,026,463 (GRCm39) |
W251R |
probably damaging |
Het |
|
| Other mutations in C2cd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:C2cd6
|
APN |
1 |
59,117,104 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01012:C2cd6
|
APN |
1 |
59,036,507 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01682:C2cd6
|
APN |
1 |
59,101,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:C2cd6
|
APN |
1 |
59,036,604 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01982:C2cd6
|
APN |
1 |
59,106,932 (GRCm39) |
splice site |
probably benign |
|
|
IGL02027:C2cd6
|
APN |
1 |
59,099,763 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02069:C2cd6
|
APN |
1 |
59,091,700 (GRCm39) |
splice site |
probably benign |
|
|
IGL02232:C2cd6
|
APN |
1 |
59,101,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02280:C2cd6
|
APN |
1 |
59,117,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02392:C2cd6
|
APN |
1 |
59,133,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02440:C2cd6
|
APN |
1 |
59,114,259 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02469:C2cd6
|
APN |
1 |
59,036,640 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02720:C2cd6
|
APN |
1 |
59,090,307 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03340:C2cd6
|
APN |
1 |
59,115,830 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1472:C2cd6
|
UTSW |
1 |
59,106,944 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1476:C2cd6
|
UTSW |
1 |
59,115,887 (GRCm39) |
splice site |
probably benign |
|
|
R1753:C2cd6
|
UTSW |
1 |
59,133,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2009:C2cd6
|
UTSW |
1 |
59,042,391 (GRCm39) |
exon |
noncoding transcript |
|
|
R3724:C2cd6
|
UTSW |
1 |
59,105,394 (GRCm39) |
splice site |
probably benign |
|
|
R4887:C2cd6
|
UTSW |
1 |
59,133,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5115:C2cd6
|
UTSW |
1 |
59,090,420 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5335:C2cd6
|
UTSW |
1 |
59,043,393 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R6406:C2cd6
|
UTSW |
1 |
59,097,835 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6467:C2cd6
|
UTSW |
1 |
59,117,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6697:C2cd6
|
UTSW |
1 |
59,090,247 (GRCm39) |
small deletion |
probably benign |
|
|
R6801:C2cd6
|
UTSW |
1 |
59,133,742 (GRCm39) |
frame shift |
probably null |
|
|
R6882:C2cd6
|
UTSW |
1 |
59,105,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7468:C2cd6
|
UTSW |
1 |
59,107,844 (GRCm39) |
missense |
probably benign |
|
|
R7821:C2cd6
|
UTSW |
1 |
59,106,951 (GRCm39) |
nonsense |
probably null |
|
|
R8338:C2cd6
|
UTSW |
1 |
59,099,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8368:C2cd6
|
UTSW |
1 |
59,133,820 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8768:C2cd6
|
UTSW |
1 |
59,105,312 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8774:C2cd6
|
UTSW |
1 |
59,099,825 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8774-TAIL:C2cd6
|
UTSW |
1 |
59,099,825 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8970:C2cd6
|
UTSW |
1 |
59,108,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9617:C2cd6
|
UTSW |
1 |
59,097,848 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9700:C2cd6
|
UTSW |
1 |
59,117,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation