Incidental Mutation 'R1275:Efcab14'
| ID |
150859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab14
|
| Ensembl Gene |
ENSMUSG00000034210 |
| Gene Name |
EF-hand calcium binding domain 14 |
| Synonyms |
4732418C07Rik |
| MMRRC Submission |
039341-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1275 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115594941-115634524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 115613670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 206
(L206R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074425]
[ENSMUST00000106522]
[ENSMUST00000106524]
[ENSMUST00000106525]
|
| AlphaFold |
Q8BGQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074425
AA Change: L206R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074025
Gene: ENSMUSG00000034210
AA Change: L206R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
SCOP:d1fi6a_
|
425 |
498 |
2e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106522
AA Change: L206R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102132
Gene: ENSMUSG00000034210
AA Change: L206R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106524
AA Change: L206R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102134
Gene: ENSMUSG00000034210
AA Change: L206R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
SCOP:d1hqva_
|
360 |
418 |
3e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106525
AA Change: L206R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102135
Gene: ENSMUSG00000034210
AA Change: L206R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
SCOP:d1hqva_
|
424 |
482 |
3e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136593
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdhr18 |
T |
C |
14: 13,896,949 (GRCm38) |
Y142C |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,339,483 (GRCm39) |
V793I |
probably benign |
Het |
| Coro1a |
C |
T |
7: 126,299,755 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,777,007 (GRCm39) |
|
probably null |
Het |
| Fosl2 |
C |
T |
5: 32,307,798 (GRCm39) |
R130W |
probably damaging |
Het |
| Gfral |
A |
G |
9: 76,104,314 (GRCm39) |
C233R |
probably damaging |
Het |
| Ino80 |
T |
C |
2: 119,257,536 (GRCm39) |
T765A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,400,984 (GRCm39) |
|
probably null |
Het |
| Myo15b |
CGGAGGAGGAGGAGGAGGAG |
CGGAGGAGGAGGAGGAG |
11: 115,774,318 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,099 (GRCm39) |
E315G |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,006,220 (GRCm39) |
M16K |
probably benign |
Het |
| Rassf7 |
T |
A |
7: 140,797,060 (GRCm39) |
L91Q |
probably damaging |
Het |
| Shld1 |
T |
C |
2: 132,534,015 (GRCm39) |
S48P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,235,366 (GRCm39) |
K3318R |
probably damaging |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
| Zfp930 |
A |
G |
8: 69,680,631 (GRCm39) |
K108E |
possibly damaging |
Het |
|
| Other mutations in Efcab14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02232:Efcab14
|
APN |
4 |
115,617,261 (GRCm39) |
splice site |
probably benign |
|
|
IGL02300:Efcab14
|
APN |
4 |
115,616,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02598:Efcab14
|
APN |
4 |
115,597,631 (GRCm39) |
nonsense |
probably null |
|
|
IGL02680:Efcab14
|
APN |
4 |
115,597,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03066:Efcab14
|
APN |
4 |
115,596,001 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0123:Efcab14
|
UTSW |
4 |
115,597,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Efcab14
|
UTSW |
4 |
115,597,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Efcab14
|
UTSW |
4 |
115,613,714 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1590:Efcab14
|
UTSW |
4 |
115,613,746 (GRCm39) |
splice site |
probably benign |
|
|
R1694:Efcab14
|
UTSW |
4 |
115,603,736 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1768:Efcab14
|
UTSW |
4 |
115,610,116 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1769:Efcab14
|
UTSW |
4 |
115,610,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3887:Efcab14
|
UTSW |
4 |
115,595,857 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4158:Efcab14
|
UTSW |
4 |
115,597,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4160:Efcab14
|
UTSW |
4 |
115,597,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5584:Efcab14
|
UTSW |
4 |
115,621,794 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5690:Efcab14
|
UTSW |
4 |
115,617,244 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5796:Efcab14
|
UTSW |
4 |
115,603,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5945:Efcab14
|
UTSW |
4 |
115,613,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6445:Efcab14
|
UTSW |
4 |
115,613,668 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6761:Efcab14
|
UTSW |
4 |
115,596,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7564:Efcab14
|
UTSW |
4 |
115,617,159 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8030:Efcab14
|
UTSW |
4 |
115,623,599 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8747:Efcab14
|
UTSW |
4 |
115,603,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9467:Efcab14
|
UTSW |
4 |
115,610,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Efcab14
|
UTSW |
4 |
115,625,901 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9760:Efcab14
|
UTSW |
4 |
115,616,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0018:Efcab14
|
UTSW |
4 |
115,623,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Efcab14
|
UTSW |
4 |
115,595,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-29 |
Incidental Mutation