Incidental Mutation 'R6801:C2cd6'
ID |
533314 |
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 |
044914-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R6801 (G1)
|
Quality Score |
217.468 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
59036275-59134059 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TC to T
at 59133742 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 null
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
A |
8: 25,174,680 (GRCm39) |
Y695F |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,759,892 (GRCm39) |
D545G |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,643,159 (GRCm39) |
E1457G |
possibly damaging |
Het |
Atp2b4 |
T |
A |
1: 133,655,524 (GRCm39) |
I747F |
probably damaging |
Het |
Bche |
T |
A |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
Ccdc90b |
A |
G |
7: 92,216,943 (GRCm39) |
T72A |
probably benign |
Het |
Chrd |
A |
G |
16: 20,554,497 (GRCm39) |
E352G |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,277,743 (GRCm39) |
E953G |
probably benign |
Het |
Dchs2 |
T |
A |
3: 83,035,841 (GRCm39) |
M196K |
probably benign |
Het |
Ddx10 |
G |
A |
9: 53,159,207 (GRCm39) |
Q33* |
probably null |
Het |
Dennd4b |
T |
A |
3: 90,176,086 (GRCm39) |
V201E |
probably damaging |
Het |
Fbn2 |
T |
A |
18: 58,246,420 (GRCm39) |
H494L |
probably benign |
Het |
Fbxw13 |
G |
A |
9: 109,023,795 (GRCm39) |
A83V |
probably null |
Het |
Fxr1 |
A |
G |
3: 34,108,452 (GRCm39) |
D321G |
possibly damaging |
Het |
Galm |
A |
G |
17: 80,489,053 (GRCm39) |
H233R |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,752,768 (GRCm39) |
T837A |
probably benign |
Het |
Gmppa |
C |
G |
1: 75,418,391 (GRCm39) |
S258C |
possibly damaging |
Het |
Hk1 |
T |
G |
10: 62,116,910 (GRCm39) |
E645A |
probably damaging |
Het |
Igkv1-132 |
A |
G |
6: 67,737,324 (GRCm39) |
T97A |
probably damaging |
Het |
Kcnc1 |
T |
C |
7: 46,084,716 (GRCm39) |
F547L |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lingo2 |
T |
A |
4: 35,709,566 (GRCm39) |
E138V |
probably damaging |
Het |
Myb |
T |
C |
10: 21,020,865 (GRCm39) |
|
probably null |
Het |
Mybl1 |
A |
G |
1: 9,753,353 (GRCm39) |
V243A |
probably benign |
Het |
Mylk4 |
C |
T |
13: 32,912,393 (GRCm39) |
S189N |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,855,206 (GRCm39) |
L299* |
probably null |
Het |
Or2y16 |
A |
G |
11: 49,335,169 (GRCm39) |
M164V |
probably benign |
Het |
Or4k77 |
A |
T |
2: 111,199,394 (GRCm39) |
Q139L |
probably benign |
Het |
Or4x12-ps1 |
A |
T |
2: 89,915,953 (GRCm39) |
I284N |
probably damaging |
Het |
Or5w1b |
A |
G |
2: 87,475,667 (GRCm39) |
Y267H |
probably benign |
Het |
Or8g19 |
A |
T |
9: 39,055,506 (GRCm39) |
I37F |
probably benign |
Het |
Oxld1 |
A |
T |
11: 120,347,650 (GRCm39) |
D182E |
probably damaging |
Het |
Phf13 |
A |
T |
4: 152,076,017 (GRCm39) |
L295Q |
probably damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Prss33 |
A |
G |
17: 24,053,813 (GRCm39) |
L88P |
possibly damaging |
Het |
Ralgds |
A |
G |
2: 28,438,448 (GRCm39) |
Y596C |
probably damaging |
Het |
Rftn2 |
A |
G |
1: 55,233,418 (GRCm39) |
I379T |
possibly damaging |
Het |
Rnf214 |
C |
T |
9: 45,807,403 (GRCm39) |
E267K |
probably damaging |
Het |
Rpp14 |
T |
C |
14: 8,083,717 (GRCm38) |
|
probably benign |
Het |
Rpusd2 |
A |
G |
2: 118,865,876 (GRCm39) |
Y191C |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,341,807 (GRCm39) |
M1L |
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,088,795 (GRCm39) |
D434G |
probably damaging |
Het |
Smc5 |
G |
A |
19: 23,192,010 (GRCm39) |
S888L |
probably benign |
Het |
Suv39h2 |
C |
T |
2: 3,465,458 (GRCm39) |
R299K |
probably benign |
Het |
Trappc4 |
A |
T |
9: 44,315,685 (GRCm39) |
I176N |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,997,337 (GRCm39) |
V73E |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly 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 |
|
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 |
R6697:C2cd6
|
UTSW |
1 |
59,090,247 (GRCm39) |
small deletion |
probably benign |
|
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'- GCCTAAGGTCTCTAGTGTCACC -3'
(R):5'- CTAAGATCTCCTTGAAGCGCTC -3'
Sequencing Primer
(F):5'- TAGTGTCACCACCTATCAGATGAGG -3'
(R):5'- TTGAAGCGCTCCACCTACG -3'
|
Posted On |
2018-09-12 |