Incidental Mutation 'IGL03066:Efcab14'
ID |
409709 |
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 # |
IGL03066
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
115594941-115634524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115596001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 49
(E49G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074425]
[ENSMUST00000106522]
[ENSMUST00000106524]
[ENSMUST00000106525]
|
AlphaFold |
Q8BGQ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074425
AA Change: E49G
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000074025 Gene: ENSMUSG00000034210 AA Change: E49G
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 benign
Transcript: ENSMUST00000106522
AA Change: E49G
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000102132 Gene: ENSMUSG00000034210 AA Change: E49G
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 benign
Transcript: ENSMUST00000106524
AA Change: E49G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102134 Gene: ENSMUSG00000034210 AA Change: E49G
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 benign
Transcript: ENSMUST00000106525
AA Change: E49G
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000102135 Gene: ENSMUSG00000034210 AA Change: E49G
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brd4 |
A |
C |
17: 32,418,062 (GRCm39) |
|
probably benign |
Het |
Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
Cpt2 |
A |
G |
4: 107,765,183 (GRCm39) |
F148L |
probably benign |
Het |
Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
Galnt17 |
A |
T |
5: 130,929,486 (GRCm39) |
S440R |
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
Mink1 |
G |
T |
11: 70,499,715 (GRCm39) |
V750F |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
Or6b2b |
T |
A |
1: 92,419,305 (GRCm39) |
R57S |
probably damaging |
Het |
Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
Tcf3 |
T |
C |
10: 80,248,879 (GRCm39) |
D529G |
probably damaging |
Het |
Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
Ubc |
G |
T |
5: 125,465,327 (GRCm39) |
|
probably benign |
Het |
Ubxn4 |
A |
T |
1: 128,188,591 (GRCm39) |
|
probably null |
Het |
Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
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 |
|
IGL02680:Efcab14
|
APN |
4 |
115,597,615 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |