Incidental Mutation 'R6691:Calcoco2'
| ID |
530427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calcoco2
|
| Ensembl Gene |
ENSMUSG00000006056 |
| Gene Name |
calcium binding and coiled-coil domain 2 |
| Synonyms |
Ndp52l1, Ndp52, 2410154J16Rik |
| MMRRC Submission |
044809-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6691 (G1)
|
| Quality Score |
91.0078 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
95990152-96002790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95990934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 247
(S247P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068686]
[ENSMUST00000097162]
|
| AlphaFold |
A2A6M5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000068686
AA Change: S268P
|
| SMART Domains |
Protein: ENSMUSP00000087407
Gene: ENSMUSG00000006056
AA Change: S268P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
16 |
258 |
4.5e-34 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000097162
AA Change: S247P
|
| SMART Domains |
Protein: ENSMUSP00000103309
Gene: ENSMUSG00000006056
AA Change: S247P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
14 |
281 |
2.3e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
probably benign |
Het |
|
| Other mutations in Calcoco2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03286:Calcoco2
|
APN |
11 |
95,994,098 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0671:Calcoco2
|
UTSW |
11 |
95,998,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Calcoco2
|
UTSW |
11 |
95,993,563 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4678:Calcoco2
|
UTSW |
11 |
95,994,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Calcoco2
|
UTSW |
11 |
95,998,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5481:Calcoco2
|
UTSW |
11 |
95,998,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Calcoco2
|
UTSW |
11 |
95,994,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R7289:Calcoco2
|
UTSW |
11 |
95,990,823 (GRCm39) |
missense |
unknown |
|
|
R7715:Calcoco2
|
UTSW |
11 |
95,990,862 (GRCm39) |
frame shift |
probably null |
|
|
R7851:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R7872:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R7939:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R8027:Calcoco2
|
UTSW |
11 |
95,991,241 (GRCm39) |
splice site |
probably benign |
|
|
R8079:Calcoco2
|
UTSW |
11 |
95,998,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R8700:Calcoco2
|
UTSW |
11 |
95,994,330 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8865:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R8870:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R8909:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R8933:Calcoco2
|
UTSW |
11 |
95,998,252 (GRCm39) |
splice site |
probably benign |
|
|
R9073:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R9359:Calcoco2
|
UTSW |
11 |
95,990,862 (GRCm39) |
frame shift |
probably null |
|
|
R9538:Calcoco2
|
UTSW |
11 |
95,990,808 (GRCm39) |
small deletion |
probably benign |
|
|
R9614:Calcoco2
|
UTSW |
11 |
95,991,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9621:Calcoco2
|
UTSW |
11 |
95,990,862 (GRCm39) |
frame shift |
probably null |
|
|
R9664:Calcoco2
|
UTSW |
11 |
95,991,104 (GRCm39) |
missense |
unknown |
|
|
X0027:Calcoco2
|
UTSW |
11 |
95,998,385 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Calcoco2
|
UTSW |
11 |
95,994,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCGGTGCAGATCATTCC -3'
(R):5'- TTTCACTCCAGGTGGCACTG -3'
Sequencing Primer
(F):5'- GGTGCAGATCATTCCACCAATAGG -3'
(R):5'- TGGCACTGGAAGCAACAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation