Incidental Mutation 'R6808:Calcoco1'
| ID |
533671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calcoco1
|
| Ensembl Gene |
ENSMUSG00000023055 |
| Gene Name |
calcium binding and coiled coil domain 1 |
| Synonyms |
1810009B06Rik, Gcap11, CoCoA |
| MMRRC Submission |
044921-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
R6808 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102615212-102630613 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102618875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 444
(K444E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023818]
[ENSMUST00000171838]
[ENSMUST00000229231]
[ENSMUST00000229398]
[ENSMUST00000230035]
|
| AlphaFold |
Q8CGU1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023818
AA Change: K451E
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023818
Gene: ENSMUSG00000023055
AA Change: K451E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
13 |
598 |
6.8e-241 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168112
|
| SMART Domains |
Protein: ENSMUSP00000128307
Gene: ENSMUSG00000023055
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
1 |
117 |
3.5e-37 |
PFAM |
|
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
195 |
220 |
4e-6 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171838
AA Change: K451E
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130170
Gene: ENSMUSG00000023055
AA Change: K451E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
9 |
596 |
6.6e-273 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229231
AA Change: K366E
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229398
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230035
AA Change: K444E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.2531 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,098 (GRCm39) |
I53F |
probably damaging |
Het |
| Apol7b |
T |
A |
15: 77,308,873 (GRCm39) |
D75V |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,741,528 (GRCm39) |
A387T |
probably damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,169 (GRCm39) |
|
probably null |
Het |
| Cers2 |
G |
A |
3: 95,228,320 (GRCm39) |
R120H |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,099,086 (GRCm39) |
C1587S |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,888,593 (GRCm39) |
K286N |
possibly damaging |
Het |
| Creld2 |
A |
G |
15: 88,709,413 (GRCm39) |
N308S |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,440,934 (GRCm39) |
S151P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,242 (GRCm39) |
H642R |
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,665,206 (GRCm39) |
Y151C |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,079,462 (GRCm39) |
M1206K |
probably benign |
Het |
| Fam178b |
G |
A |
1: 36,639,216 (GRCm39) |
T361M |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,035 (GRCm39) |
F234S |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,094,064 (GRCm39) |
E13D |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,460,499 (GRCm39) |
K367E |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,589,269 (GRCm39) |
E54G |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,848,346 (GRCm39) |
I492N |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,410,923 (GRCm39) |
N140S |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,229,528 (GRCm39) |
Y168H |
probably benign |
Het |
| Mbip |
A |
C |
12: 56,384,383 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
C |
T |
1: 10,004,242 (GRCm39) |
T574I |
probably damaging |
Het |
| Or10a3b |
T |
C |
7: 108,444,747 (GRCm39) |
T157A |
probably benign |
Het |
| Or52j3 |
T |
G |
7: 102,836,511 (GRCm39) |
D234E |
probably benign |
Het |
| Or5w22 |
A |
T |
2: 87,363,285 (GRCm39) |
M303L |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,760,085 (GRCm39) |
I225N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,337,836 (GRCm39) |
Y177C |
probably damaging |
Het |
| Or9s27 |
A |
T |
1: 92,516,768 (GRCm39) |
R239W |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,287,957 (GRCm39) |
*1148Q |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,286,445 (GRCm39) |
I582N |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,502,762 (GRCm39) |
L714R |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,822,179 (GRCm39) |
E6G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,333,298 (GRCm39) |
S1516P |
probably damaging |
Het |
| Sptlc2 |
G |
A |
12: 87,397,069 (GRCm39) |
T239I |
possibly damaging |
Het |
| Tmc1 |
A |
T |
19: 20,772,880 (GRCm39) |
V707D |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,734 (GRCm39) |
E827V |
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,594,258 (GRCm39) |
S58P |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,347,687 (GRCm39) |
H2022R |
possibly damaging |
Het |
|
| Other mutations in Calcoco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02616:Calcoco1
|
APN |
15 |
102,624,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Calcoco1
|
UTSW |
15 |
102,624,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0330:Calcoco1
|
UTSW |
15 |
102,624,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1723:Calcoco1
|
UTSW |
15 |
102,627,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Calcoco1
|
UTSW |
15 |
102,622,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3879:Calcoco1
|
UTSW |
15 |
102,615,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4086:Calcoco1
|
UTSW |
15 |
102,618,834 (GRCm39) |
splice site |
probably benign |
|
|
R4445:Calcoco1
|
UTSW |
15 |
102,624,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4677:Calcoco1
|
UTSW |
15 |
102,626,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Calcoco1
|
UTSW |
15 |
102,619,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Calcoco1
|
UTSW |
15 |
102,619,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Calcoco1
|
UTSW |
15 |
102,619,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Calcoco1
|
UTSW |
15 |
102,628,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6041:Calcoco1
|
UTSW |
15 |
102,626,374 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7748:Calcoco1
|
UTSW |
15 |
102,627,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Calcoco1
|
UTSW |
15 |
102,627,991 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8098:Calcoco1
|
UTSW |
15 |
102,624,759 (GRCm39) |
missense |
probably benign |
|
|
R8258:Calcoco1
|
UTSW |
15 |
102,624,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Calcoco1
|
UTSW |
15 |
102,624,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9050:Calcoco1
|
UTSW |
15 |
102,618,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Calcoco1
|
UTSW |
15 |
102,619,876 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGAGGTGCATTCTATGAAC -3'
(R):5'- GGTCAGAAACAATTTGGTCCC -3'
Sequencing Primer
(F):5'- TTCTATGAACAGGAATGGAATGCAC -3'
(R):5'- ACAATTTGGTCCCCCAGAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation