Incidental Mutation 'R6406:C2cd6'
| ID |
516279 |
| 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 |
044551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R6406 (G1)
|
| Quality Score |
173.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59036275-59134059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59097835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 418
(E418G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097080]
|
| AlphaFold |
A0A5F8MPU3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097080
AA Change: E418G
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094845
Gene: ENSMUSG00000072295
AA Change: E418G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,817,865 (GRCm39) |
P29L |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,261,484 (GRCm39) |
N567S |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,852,948 (GRCm39) |
N505K |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,825,874 (GRCm39) |
D356V |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bpifb6 |
C |
A |
2: 153,746,457 (GRCm39) |
T117K |
possibly damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,364 (GRCm39) |
K84* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,852,079 (GRCm39) |
L90P |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,387,827 (GRCm39) |
D91G |
probably damaging |
Het |
| Dock1 |
C |
A |
7: 134,747,215 (GRCm39) |
Q1509K |
probably benign |
Het |
| Fzd1 |
T |
G |
5: 4,806,089 (GRCm39) |
T498P |
probably damaging |
Het |
| Galnt12 |
A |
G |
4: 47,122,534 (GRCm39) |
N271S |
probably benign |
Het |
| Gm12888 |
A |
G |
4: 121,176,654 (GRCm39) |
I49T |
possibly damaging |
Het |
| Gria4 |
A |
T |
9: 4,427,077 (GRCm39) |
W788R |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,307,540 (GRCm39) |
A379V |
probably damaging |
Het |
| Islr2 |
A |
G |
9: 58,107,263 (GRCm39) |
V43A |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,929,563 (GRCm39) |
N782I |
probably damaging |
Het |
| Klhl8 |
T |
A |
5: 104,010,981 (GRCm39) |
I539F |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,839,257 (GRCm39) |
C750* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,388,361 (GRCm39) |
T2355S |
unknown |
Het |
| Lrrc8a |
A |
G |
2: 30,147,103 (GRCm39) |
H639R |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,131,224 (GRCm39) |
D442V |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,846,343 (GRCm39) |
|
probably null |
Het |
| Msantd1 |
C |
A |
5: 35,080,665 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
C |
A |
6: 125,150,841 (GRCm39) |
A785S |
probably benign |
Het |
| Ncbp2 |
CTCGTCTGG |
C |
16: 31,775,159 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
T |
C |
3: 125,232,150 (GRCm39) |
S240P |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,385,946 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-1 |
C |
T |
5: 101,811,677 (GRCm39) |
A142T |
unknown |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,404 (GRCm39) |
H205R |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,184 (GRCm39) |
I205T |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,590,651 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,573,098 (GRCm39) |
M322T |
probably benign |
Het |
| Parp2 |
A |
G |
14: 51,056,934 (GRCm39) |
N353D |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,503,412 (GRCm39) |
N452S |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,762,586 (GRCm39) |
V1397A |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,535,665 (GRCm39) |
L1675Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,703 (GRCm39) |
I1157V |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,878,312 (GRCm39) |
C217F |
probably damaging |
Het |
| Spats1 |
T |
A |
17: 45,768,191 (GRCm39) |
H125L |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,269,595 (GRCm39) |
V330A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,069,846 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,977,963 (GRCm39) |
F301L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,032,924 (GRCm39) |
E221K |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,466,377 (GRCm39) |
T295A |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,101,093 (GRCm39) |
Q35R |
probably damaging |
Het |
| Tsnaxip1 |
C |
T |
8: 106,570,615 (GRCm39) |
T578I |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTGATAGGGGCCAAGACTTTTC -3'
(R):5'- ACTTCTGTTGAAATCATGCTCCTTG -3'
Sequencing Primer
(F):5'- ATAGGGGCCAAGACTTTTCTTAGAG -3'
(R):5'- GGATTAATTTTCTCACCAACTCCGCG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation