Incidental Mutation 'R4002:Efcab8'
| ID |
475019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab8
|
| Ensembl Gene |
ENSMUSG00000044083 |
| Gene Name |
EF-hand calcium binding domain 8 |
| Synonyms |
EG329541 |
| MMRRC Submission |
041609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R4002 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
153621851-153686671 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 153623726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 70
(K70N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126656]
[ENSMUST00000144827]
[ENSMUST00000230058]
|
| AlphaFold |
Q8C9R9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126656
AA Change: K70N
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144827
AA Change: K70N
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135811
Gene: ENSMUSG00000044083
AA Change: K70N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
52 |
N/A |
INTRINSIC |
|
SCOP:d1mr8a_
|
104 |
184 |
5e-7 |
SMART |
|
Blast:EFh
|
155 |
178 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230058
AA Change: K70N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (29/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,274,964 (GRCm39) |
N222K |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,535,415 (GRCm39) |
M4680L |
probably benign |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Afdn |
T |
C |
17: 14,104,179 (GRCm39) |
S1157P |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,629,479 (GRCm39) |
T63A |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,801,176 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,383,048 (GRCm39) |
L277I |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,093 (GRCm39) |
D431V |
probably damaging |
Het |
| Dbx1 |
T |
C |
7: 49,286,265 (GRCm39) |
S67G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,381,116 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,670,840 (GRCm39) |
T471S |
probably benign |
Het |
| Grcc10 |
A |
T |
6: 124,717,933 (GRCm39) |
M1K |
probably null |
Het |
| Higd2a |
G |
C |
13: 54,738,540 (GRCm39) |
C53S |
probably damaging |
Het |
| Kcna4 |
C |
T |
2: 107,126,259 (GRCm39) |
P331L |
probably damaging |
Het |
| Keg1 |
T |
A |
19: 12,696,307 (GRCm39) |
S164T |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,617,154 (GRCm39) |
V1031A |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,476,743 (GRCm39) |
T737I |
possibly damaging |
Het |
| Or10al7 |
G |
A |
17: 38,365,879 (GRCm39) |
L193F |
probably damaging |
Het |
| Or7g33 |
C |
T |
9: 19,449,202 (GRCm39) |
R8K |
probably benign |
Het |
| Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,854,630 (GRCm39) |
M202V |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,826,822 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
C |
14: 50,599,984 (GRCm39) |
F657L |
probably benign |
Het |
| Ttf2 |
G |
A |
3: 100,855,541 (GRCm39) |
Q96* |
probably null |
Het |
| Ube2frt |
G |
A |
12: 36,140,635 (GRCm39) |
|
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp810 |
C |
T |
9: 22,190,188 (GRCm39) |
C240Y |
probably damaging |
Het |
|
| Other mutations in Efcab8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1709:Efcab8
|
UTSW |
2 |
153,656,290 (GRCm39) |
splice site |
probably null |
|
|
R2324:Efcab8
|
UTSW |
2 |
153,625,729 (GRCm39) |
splice site |
probably null |
|
|
R5208:Efcab8
|
UTSW |
2 |
153,644,343 (GRCm39) |
nonsense |
probably null |
|
|
R5393:Efcab8
|
UTSW |
2 |
153,622,903 (GRCm39) |
missense |
unknown |
|
|
R5411:Efcab8
|
UTSW |
2 |
153,625,676 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5766:Efcab8
|
UTSW |
2 |
153,622,912 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6255:Efcab8
|
UTSW |
2 |
153,652,188 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6266:Efcab8
|
UTSW |
2 |
153,625,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Efcab8
|
UTSW |
2 |
153,631,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6740:Efcab8
|
UTSW |
2 |
153,646,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Efcab8
|
UTSW |
2 |
153,623,695 (GRCm39) |
missense |
|
|
|
R7719:Efcab8
|
UTSW |
2 |
153,629,665 (GRCm39) |
missense |
|
|
|
R7765:Efcab8
|
UTSW |
2 |
153,685,110 (GRCm39) |
missense |
|
|
|
R7822:Efcab8
|
UTSW |
2 |
153,652,832 (GRCm39) |
missense |
unknown |
|
|
R7994:Efcab8
|
UTSW |
2 |
153,625,724 (GRCm39) |
missense |
|
|
|
R8207:Efcab8
|
UTSW |
2 |
153,631,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8874:Efcab8
|
UTSW |
2 |
153,640,569 (GRCm39) |
missense |
|
|
|
R8980:Efcab8
|
UTSW |
2 |
153,646,861 (GRCm39) |
missense |
unknown |
|
|
R9036:Efcab8
|
UTSW |
2 |
153,622,888 (GRCm39) |
missense |
|
|
|
R9133:Efcab8
|
UTSW |
2 |
153,646,861 (GRCm39) |
missense |
unknown |
|
|
R9207:Efcab8
|
UTSW |
2 |
153,656,339 (GRCm39) |
missense |
unknown |
|
|
R9266:Efcab8
|
UTSW |
2 |
153,646,861 (GRCm39) |
missense |
unknown |
|
|
R9267:Efcab8
|
UTSW |
2 |
153,646,861 (GRCm39) |
missense |
unknown |
|
|
R9269:Efcab8
|
UTSW |
2 |
153,646,861 (GRCm39) |
missense |
unknown |
|
|
R9447:Efcab8
|
UTSW |
2 |
153,646,861 (GRCm39) |
missense |
unknown |
|
|
R9448:Efcab8
|
UTSW |
2 |
153,646,861 (GRCm39) |
missense |
unknown |
|
|
R9451:Efcab8
|
UTSW |
2 |
153,646,861 (GRCm39) |
missense |
unknown |
|
|
R9766:Efcab8
|
UTSW |
2 |
153,656,362 (GRCm39) |
missense |
unknown |
|
|
Z1177:Efcab8
|
UTSW |
2 |
153,640,600 (GRCm39) |
missense |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation