Incidental Mutation 'R6697:C2cd6'
| ID |
528611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C2cd6
|
| Ensembl Gene |
ENSMUSG00000072295 |
| Gene Name |
C2 calcium dependent domain containing 6 |
| Synonyms |
Als2cr11, C2cd6b, Gm33589, 1700052H20Rik, Als2cr11b, 4930408G06Rik |
| MMRRC Submission |
044815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R6697 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
59036275-59134059 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (5 aa in frame mutation) |
| DNA Base Change (assembly) |
ATGTGGCCTGTCTTCT to A
at 59090247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097080]
|
| AlphaFold |
A0A5F8MPU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097080
|
| SMART Domains |
Protein: ENSMUSP00000094845
Gene: ENSMUSG00000072295
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,281,870 (GRCm39) |
S562* |
probably null |
Het |
| Arhgap9 |
T |
C |
10: 127,157,989 (GRCm39) |
F2S |
probably benign |
Het |
| Clk1 |
A |
G |
1: 58,453,781 (GRCm39) |
S298P |
probably benign |
Het |
| Col7a1 |
T |
A |
9: 108,799,601 (GRCm39) |
L1834Q |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,671,949 (GRCm39) |
L1007P |
probably damaging |
Het |
| Erich3 |
G |
T |
3: 154,469,907 (GRCm39) |
|
probably benign |
Het |
| Fam209 |
A |
G |
2: 172,316,123 (GRCm39) |
E166G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,376,599 (GRCm39) |
T12A |
probably benign |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,487,704 (GRCm39) |
D398G |
possibly damaging |
Het |
| Hmx2 |
T |
C |
7: 131,157,663 (GRCm39) |
L259P |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,410,991 (GRCm39) |
R586S |
possibly damaging |
Het |
| Map3k14 |
T |
C |
11: 103,117,890 (GRCm39) |
E634G |
probably benign |
Het |
| Mettl21e |
G |
T |
1: 44,249,327 (GRCm39) |
L110I |
probably damaging |
Het |
| Mgst1 |
A |
G |
6: 138,124,751 (GRCm39) |
I22V |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,552,587 (GRCm39) |
T4569A |
probably benign |
Het |
| Neu4 |
A |
G |
1: 93,952,752 (GRCm39) |
K374E |
probably benign |
Het |
| Nufip1 |
A |
G |
14: 76,370,513 (GRCm39) |
T405A |
probably benign |
Het |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Tial1 |
G |
T |
7: 128,046,593 (GRCm39) |
Q68K |
possibly damaging |
Het |
| Znrd2 |
A |
G |
19: 5,780,458 (GRCm39) |
L180P |
probably damaging |
Het |
| Zp1 |
T |
A |
19: 10,892,199 (GRCm39) |
I62L |
probably benign |
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 |
|
|
IGL02660:C2cd6
|
APN |
1 |
59,090,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATTTCAACTCTCAGGAGCC -3'
(R):5'- TAAGGAAGGCCGGGTCATAC -3'
Sequencing Primer
(F):5'- TTTCAACTCTCAGGAGCCCAAACTAG -3'
(R):5'- GCCGGGTCATACCAGTTTTAAAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation