Incidental Mutation 'IGL02680:Efcab14'
| ID |
303318 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Efcab14
|
| Ensembl Gene |
ENSMUSG00000034210 |
| Gene Name |
EF-hand calcium binding domain 14 |
| Synonyms |
4732418C07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115594941-115634524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115597615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 70
(I70N)
|
| 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: I70N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074025
Gene: ENSMUSG00000034210
AA Change: I70N
| 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: I70N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102132
Gene: ENSMUSG00000034210
AA Change: I70N
| 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: I70N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102134
Gene: ENSMUSG00000034210
AA Change: I70N
| 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: I70N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102135
Gene: ENSMUSG00000034210
AA Change: I70N
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,949 (GRCm39) |
|
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,055,895 (GRCm39) |
V299F |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,180,000 (GRCm39) |
I107T |
probably damaging |
Het |
| Atmin |
A |
T |
8: 117,684,236 (GRCm39) |
D632V |
probably damaging |
Het |
| Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
| Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,614,506 (GRCm39) |
W69* |
probably null |
Het |
| Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
| Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
| Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
| Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
| Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
| Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,119,728 (GRCm39) |
Y345H |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
| Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
| Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
| Tmem79 |
A |
G |
3: 88,240,270 (GRCm39) |
L226P |
probably damaging |
Het |
| Tnfrsf14 |
G |
T |
4: 155,008,927 (GRCm39) |
C165* |
probably null |
Het |
| Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
probably benign |
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 |
|
|
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 |
|
R1275:Efcab14
|
UTSW |
4 |
115,613,670 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation