Incidental Mutation 'R3879:Calcoco1'
| ID |
308696 |
| 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 |
040793-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
R3879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102615212-102630613 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102615823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 601
(D601G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023818]
[ENSMUST00000171838]
[ENSMUST00000229231]
[ENSMUST00000229398]
[ENSMUST00000230035]
|
| AlphaFold |
Q8CGU1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023818
AA Change: D686G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023818
Gene: ENSMUSG00000023055
AA Change: D686G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
13 |
598 |
6.8e-241 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166943
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168112
AA Change: D226G
|
| SMART Domains |
Protein: ENSMUSP00000128307
Gene: ENSMUSG00000023055
AA Change: D226G
| 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 |
probably benign
Transcript: ENSMUST00000171838
|
| SMART Domains |
Protein: ENSMUSP00000130170
Gene: ENSMUSG00000023055
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
9 |
596 |
6.6e-273 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229231
AA Change: D601G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229398
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230702
|
| Meta Mutation Damage Score |
0.1094 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,970,561 (GRCm39) |
|
probably benign |
Het |
| Aass |
G |
A |
6: 23,122,520 (GRCm39) |
H68Y |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,754,051 (GRCm39) |
K1588N |
possibly damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,182,792 (GRCm39) |
R409I |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,179 (GRCm39) |
V242A |
possibly damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,029 (GRCm39) |
F705L |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,324,389 (GRCm39) |
T389A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,360 (GRCm39) |
|
probably benign |
Het |
| Gm9894 |
T |
C |
13: 67,912,916 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,837,436 (GRCm39) |
V1262E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,780 (GRCm39) |
T1245A |
probably damaging |
Het |
| Or10ad1b |
C |
T |
15: 98,125,085 (GRCm39) |
C147Y |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,613 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pcif1 |
G |
A |
2: 164,727,878 (GRCm39) |
G189D |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,375,594 (GRCm39) |
S1514P |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,514,194 (GRCm39) |
H365R |
probably benign |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rasgrp2 |
A |
T |
19: 6,463,920 (GRCm39) |
Q539H |
probably benign |
Het |
| Rgs22 |
T |
G |
15: 36,107,051 (GRCm39) |
I112L |
possibly damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,696,969 (GRCm39) |
T786S |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,192,752 (GRCm39) |
|
probably benign |
Het |
| St7l |
G |
A |
3: 104,833,763 (GRCm39) |
V475I |
probably damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,634,765 (GRCm39) |
V713A |
possibly damaging |
Het |
| Trim16 |
G |
A |
11: 62,731,433 (GRCm39) |
G348S |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,962 (GRCm39) |
Q984* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,566,406 (GRCm39) |
|
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,572 (GRCm39) |
Y497* |
probably null |
Het |
| Zfp462 |
G |
A |
4: 55,060,095 (GRCm39) |
C1207Y |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,476 (GRCm39) |
E644G |
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 |
|
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 |
|
R6808:Calcoco1
|
UTSW |
15 |
102,618,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- AGACAGATTGCTGCTTGGGAC -3'
(R):5'- AGTGCTGCCTGAAGTCTGAG -3'
Sequencing Primer
(F):5'- CAGATTGCTGCTTGGGACAAAGAC -3'
(R):5'- GAGACTCAGGAATTCAGGAACCTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation