Incidental Mutation 'IGL02247:Efhb'
ID |
286236 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Efhb
|
Ensembl Gene |
ENSMUSG00000023931 |
Gene Name |
EF hand domain family, member B |
Synonyms |
4921525D22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL02247
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53708652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 673
(V673I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024725]
|
AlphaFold |
Q8CDU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024725
AA Change: V673I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000024725 Gene: ENSMUSG00000023931 AA Change: V673I
Domain | Start | End | E-Value | Type |
low complexity region
|
565 |
574 |
N/A |
INTRINSIC |
EFh
|
585 |
613 |
2.14e-1 |
SMART |
EFh
|
621 |
649 |
1.98e0 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl2 |
A |
G |
2: 26,974,905 (GRCm39) |
R177G |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,531,303 (GRCm39) |
|
probably null |
Het |
Ascc3 |
A |
C |
10: 50,526,686 (GRCm39) |
K595T |
probably damaging |
Het |
Cnpy4 |
A |
G |
5: 138,191,125 (GRCm39) |
T234A |
probably benign |
Het |
Col13a1 |
T |
C |
10: 61,797,124 (GRCm39) |
Y101C |
probably damaging |
Het |
Crybg3 |
A |
G |
16: 59,323,513 (GRCm39) |
I2809T |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dgkz |
T |
C |
2: 91,767,805 (GRCm39) |
S824G |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
Egr1 |
T |
C |
18: 34,995,916 (GRCm39) |
Y233H |
possibly damaging |
Het |
Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
Galt |
A |
G |
4: 41,755,623 (GRCm39) |
|
probably benign |
Het |
Gm4795 |
T |
C |
10: 44,883,211 (GRCm39) |
|
noncoding transcript |
Het |
Gm6563 |
G |
A |
19: 23,653,392 (GRCm39) |
E61K |
possibly damaging |
Het |
Igkv1-133 |
G |
A |
6: 67,702,590 (GRCm39) |
V103M |
probably damaging |
Het |
Iqcb1 |
T |
A |
16: 36,660,258 (GRCm39) |
H140Q |
probably benign |
Het |
Itpk1 |
G |
T |
12: 102,589,668 (GRCm39) |
P74Q |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,317,153 (GRCm39) |
W803R |
probably damaging |
Het |
Lgr4 |
A |
T |
2: 109,832,846 (GRCm39) |
D312V |
probably benign |
Het |
Lgr4 |
C |
T |
2: 109,838,420 (GRCm39) |
|
probably benign |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mllt6 |
C |
A |
11: 97,561,158 (GRCm39) |
A282E |
probably benign |
Het |
Mtif2 |
T |
C |
11: 29,490,642 (GRCm39) |
S449P |
possibly damaging |
Het |
Nrg3 |
T |
C |
14: 38,093,269 (GRCm39) |
I533M |
probably damaging |
Het |
Nynrin |
C |
T |
14: 56,109,167 (GRCm39) |
Q1425* |
probably null |
Het |
Or12e13 |
A |
G |
2: 87,663,873 (GRCm39) |
I163M |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,855,688 (GRCm39) |
M85L |
probably benign |
Het |
Or4n4b |
T |
A |
14: 50,536,571 (GRCm39) |
N65I |
probably damaging |
Het |
Or4p22 |
C |
T |
2: 88,317,771 (GRCm39) |
H232Y |
probably benign |
Het |
Or56a3 |
T |
A |
7: 104,735,530 (GRCm39) |
Y202* |
probably null |
Het |
Or5b3 |
T |
A |
19: 13,388,831 (GRCm39) |
S299R |
probably benign |
Het |
Or7e175 |
G |
A |
9: 20,048,516 (GRCm39) |
V35I |
probably benign |
Het |
Plcb4 |
C |
T |
2: 135,836,245 (GRCm39) |
T20I |
possibly damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,763,721 (GRCm39) |
T771K |
probably benign |
Het |
Prss22 |
T |
C |
17: 24,215,363 (GRCm39) |
T138A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,005,677 (GRCm39) |
S907T |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,993,134 (GRCm39) |
Y521* |
probably null |
Het |
Sacs |
T |
C |
14: 61,429,984 (GRCm39) |
F678S |
probably damaging |
Het |
Smtnl1 |
A |
T |
2: 84,647,372 (GRCm39) |
|
probably benign |
Het |
Sumf2 |
T |
C |
5: 129,888,986 (GRCm39) |
V258A |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,396,827 (GRCm39) |
Y722F |
probably damaging |
Het |
Tecpr1 |
A |
G |
5: 144,143,372 (GRCm39) |
F668L |
possibly damaging |
Het |
Timd4 |
T |
C |
11: 46,706,558 (GRCm39) |
F120S |
probably damaging |
Het |
Tnnt3 |
T |
C |
7: 142,062,062 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
G |
A |
2: 121,067,070 (GRCm39) |
S552F |
probably damaging |
Het |
Txlnb |
G |
A |
10: 17,706,090 (GRCm39) |
R333Q |
possibly damaging |
Het |
Txlnb |
A |
G |
10: 17,717,276 (GRCm39) |
|
probably benign |
Het |
Uroc1 |
A |
G |
6: 90,324,910 (GRCm39) |
E461G |
probably benign |
Het |
Vps45 |
G |
A |
3: 95,950,236 (GRCm39) |
T231I |
probably damaging |
Het |
Zfp648 |
T |
A |
1: 154,079,923 (GRCm39) |
S27R |
probably benign |
Het |
|
Other mutations in Efhb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Efhb
|
APN |
17 |
53,769,481 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Efhb
|
APN |
17 |
53,769,649 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02041:Efhb
|
APN |
17 |
53,733,287 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02637:Efhb
|
APN |
17 |
53,756,580 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02704:Efhb
|
APN |
17 |
53,733,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03083:Efhb
|
APN |
17 |
53,706,087 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03090:Efhb
|
APN |
17 |
53,769,958 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03221:Efhb
|
APN |
17 |
53,706,014 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4531001:Efhb
|
UTSW |
17 |
53,752,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R0632:Efhb
|
UTSW |
17 |
53,720,487 (GRCm39) |
splice site |
probably benign |
|
R1234:Efhb
|
UTSW |
17 |
53,758,615 (GRCm39) |
nonsense |
probably null |
|
R1466:Efhb
|
UTSW |
17 |
53,744,206 (GRCm39) |
missense |
probably damaging |
0.99 |
R1466:Efhb
|
UTSW |
17 |
53,744,206 (GRCm39) |
missense |
probably damaging |
0.99 |
R1471:Efhb
|
UTSW |
17 |
53,706,140 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1624:Efhb
|
UTSW |
17 |
53,733,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Efhb
|
UTSW |
17 |
53,708,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R2085:Efhb
|
UTSW |
17 |
53,733,937 (GRCm39) |
critical splice donor site |
probably null |
|
R2226:Efhb
|
UTSW |
17 |
53,769,457 (GRCm39) |
critical splice donor site |
probably null |
|
R2415:Efhb
|
UTSW |
17 |
53,770,124 (GRCm39) |
missense |
probably benign |
0.01 |
R3848:Efhb
|
UTSW |
17 |
53,734,024 (GRCm39) |
splice site |
probably benign |
|
R3858:Efhb
|
UTSW |
17 |
53,769,808 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4581:Efhb
|
UTSW |
17 |
53,733,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4712:Efhb
|
UTSW |
17 |
53,758,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Efhb
|
UTSW |
17 |
53,708,654 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5886:Efhb
|
UTSW |
17 |
53,758,582 (GRCm39) |
missense |
probably benign |
0.42 |
R6054:Efhb
|
UTSW |
17 |
53,706,027 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6195:Efhb
|
UTSW |
17 |
53,769,580 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6233:Efhb
|
UTSW |
17 |
53,769,580 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6450:Efhb
|
UTSW |
17 |
53,759,632 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6550:Efhb
|
UTSW |
17 |
53,728,968 (GRCm39) |
missense |
probably benign |
0.06 |
R6701:Efhb
|
UTSW |
17 |
53,706,091 (GRCm39) |
missense |
probably benign |
0.41 |
R6967:Efhb
|
UTSW |
17 |
53,770,196 (GRCm39) |
missense |
probably benign |
0.03 |
R7157:Efhb
|
UTSW |
17 |
53,707,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R7441:Efhb
|
UTSW |
17 |
53,708,549 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7694:Efhb
|
UTSW |
17 |
53,707,836 (GRCm39) |
missense |
probably damaging |
0.99 |
R8044:Efhb
|
UTSW |
17 |
53,706,143 (GRCm39) |
missense |
probably benign |
0.41 |
R8176:Efhb
|
UTSW |
17 |
53,707,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R8309:Efhb
|
UTSW |
17 |
53,756,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R8311:Efhb
|
UTSW |
17 |
53,720,489 (GRCm39) |
critical splice donor site |
probably null |
|
R8821:Efhb
|
UTSW |
17 |
53,707,772 (GRCm39) |
critical splice donor site |
probably benign |
|
R8882:Efhb
|
UTSW |
17 |
53,769,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R9146:Efhb
|
UTSW |
17 |
53,769,644 (GRCm39) |
missense |
probably benign |
0.00 |
R9211:Efhb
|
UTSW |
17 |
53,756,507 (GRCm39) |
missense |
probably damaging |
0.96 |
R9760:Efhb
|
UTSW |
17 |
53,770,298 (GRCm39) |
missense |
probably damaging |
0.96 |
RF003:Efhb
|
UTSW |
17 |
53,707,919 (GRCm39) |
missense |
probably damaging |
1.00 |
RF012:Efhb
|
UTSW |
17 |
53,720,545 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Efhb
|
UTSW |
17 |
53,744,211 (GRCm39) |
missense |
probably benign |
0.26 |
Z1177:Efhb
|
UTSW |
17 |
53,744,154 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2015-04-16 |