Incidental Mutation 'IGL02041:Efhb'
| ID |
184758 |
| 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 # |
IGL02041
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53733287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 528
(V528D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024725]
|
| AlphaFold |
Q8CDU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024725
AA Change: V528D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: V528D
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,772,674 (GRCm39) |
Q28L |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,223,418 (GRCm39) |
D76N |
unknown |
Het |
| Afg1l |
A |
G |
10: 42,330,376 (GRCm39) |
V97A |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,436 (GRCm39) |
S1617R |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,057,579 (GRCm39) |
N285D |
probably damaging |
Het |
| Arhgap20 |
A |
T |
9: 51,757,490 (GRCm39) |
N494I |
possibly damaging |
Het |
| Atg9a |
G |
T |
1: 75,159,748 (GRCm39) |
Q712K |
possibly damaging |
Het |
| Cdcp2 |
G |
A |
4: 106,964,386 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,363 (GRCm39) |
I84N |
possibly damaging |
Het |
| Clcn3 |
T |
C |
8: 61,376,187 (GRCm39) |
I596V |
probably damaging |
Het |
| Ctxn1 |
A |
G |
8: 4,308,514 (GRCm39) |
L39P |
probably damaging |
Het |
| Fmod |
T |
G |
1: 133,968,001 (GRCm39) |
S14A |
probably benign |
Het |
| Foxh1 |
A |
G |
15: 76,553,120 (GRCm39) |
F198S |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,103 (GRCm39) |
E77G |
probably damaging |
Het |
| Gm5420 |
G |
T |
10: 21,566,933 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6434 |
T |
G |
7: 25,581,655 (GRCm39) |
|
noncoding transcript |
Het |
| Il1b |
A |
T |
2: 129,211,662 (GRCm39) |
N19K |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,860,322 (GRCm39) |
D3055V |
probably damaging |
Het |
| Lcn3 |
G |
A |
2: 25,655,636 (GRCm39) |
V18I |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,644,809 (GRCm39) |
S533G |
probably benign |
Het |
| Map4k2 |
G |
A |
19: 6,401,348 (GRCm39) |
R606Q |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,774,589 (GRCm39) |
T157A |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,397,689 (GRCm39) |
E2705K |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,711,871 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
G |
A |
17: 35,439,934 (GRCm39) |
T193M |
probably benign |
Het |
| Nmi |
T |
G |
2: 51,850,641 (GRCm39) |
K9T |
possibly damaging |
Het |
| Or2d4 |
T |
C |
7: 106,543,320 (GRCm39) |
D296G |
possibly damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,742 (GRCm39) |
F15S |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,104 (GRCm39) |
D119G |
probably damaging |
Het |
| Osbpl7 |
T |
A |
11: 96,951,334 (GRCm39) |
C502S |
probably benign |
Het |
| Pex5 |
A |
T |
6: 124,382,240 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,356,452 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
C |
T |
7: 49,478,711 (GRCm39) |
T424M |
possibly damaging |
Het |
| Rapgef4 |
G |
A |
2: 72,029,140 (GRCm39) |
G404D |
probably damaging |
Het |
| Rbm5 |
C |
T |
9: 107,633,045 (GRCm39) |
|
probably benign |
Het |
| Rfc2 |
T |
A |
5: 134,623,098 (GRCm39) |
F238L |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,324,612 (GRCm39) |
E46G |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,758,097 (GRCm39) |
F669S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,218,558 (GRCm39) |
S260P |
probably benign |
Het |
| Slc26a8 |
A |
G |
17: 28,861,225 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,430 (GRCm39) |
F174L |
probably benign |
Het |
| Terb1 |
A |
C |
8: 105,221,746 (GRCm39) |
C185G |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,398 (GRCm39) |
V602E |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,423,391 (GRCm39) |
R237L |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,034,372 (GRCm39) |
S786P |
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 |
|
IGL02247:Efhb
|
APN |
17 |
53,708,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-05-07 |
Incidental Mutation