Incidental Mutation 'IGL02704:Efhb'
ID |
304286 |
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: 0.066)
|
Stock # |
IGL02704
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53733297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 525
(T525A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024725]
|
AlphaFold |
Q8CDU5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024725
AA Change: T525A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000024725 Gene: ENSMUSG00000023931 AA Change: T525A
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
G |
T |
2: 93,673,271 (GRCm39) |
P162Q |
probably damaging |
Het |
Alb |
A |
G |
5: 90,616,368 (GRCm39) |
N291S |
possibly damaging |
Het |
Ankar |
T |
C |
1: 72,691,502 (GRCm39) |
D935G |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,070,080 (GRCm39) |
C935* |
probably null |
Het |
Bivm |
A |
T |
1: 44,165,606 (GRCm39) |
T19S |
probably benign |
Het |
Ddah2 |
C |
A |
17: 35,279,983 (GRCm39) |
D158E |
possibly damaging |
Het |
Dnah7b |
C |
T |
1: 46,181,293 (GRCm39) |
T1060I |
probably benign |
Het |
Exoc3 |
A |
G |
13: 74,322,263 (GRCm39) |
M604T |
probably benign |
Het |
Frmpd1 |
T |
G |
4: 45,285,082 (GRCm39) |
I1301S |
possibly damaging |
Het |
Gm5269 |
T |
C |
1: 45,929,235 (GRCm39) |
T2A |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,784,686 (GRCm39) |
|
probably benign |
Het |
Hpgds |
A |
T |
6: 65,100,621 (GRCm39) |
L119* |
probably null |
Het |
Iars1 |
A |
G |
13: 49,874,576 (GRCm39) |
D750G |
probably damaging |
Het |
Ift43 |
T |
A |
12: 86,207,951 (GRCm39) |
D106E |
probably benign |
Het |
Iqub |
T |
A |
6: 24,505,909 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,368,466 (GRCm39) |
K1199E |
probably benign |
Het |
Mast3 |
T |
A |
8: 71,239,519 (GRCm39) |
I395F |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,059,207 (GRCm39) |
S2236P |
probably damaging |
Het |
Met |
T |
A |
6: 17,491,256 (GRCm39) |
V6E |
possibly damaging |
Het |
Muc5ac |
A |
T |
7: 141,349,000 (GRCm39) |
T479S |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,100,014 (GRCm39) |
T1623A |
probably benign |
Het |
Neto1 |
T |
C |
18: 86,491,948 (GRCm39) |
L283P |
probably damaging |
Het |
Onecut1 |
A |
G |
9: 74,770,312 (GRCm39) |
N245S |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,483 (GRCm38) |
I200V |
probably benign |
Het |
Or4k41 |
A |
T |
2: 111,279,492 (GRCm39) |
E2D |
probably benign |
Het |
Or8b52 |
G |
A |
9: 38,577,063 (GRCm39) |
P26S |
possibly damaging |
Het |
Or8g34 |
T |
C |
9: 39,373,579 (GRCm39) |
V284A |
probably damaging |
Het |
Or8i2 |
T |
C |
2: 86,852,621 (GRCm39) |
Q89R |
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,784,910 (GRCm39) |
V1958A |
probably benign |
Het |
Plb1 |
C |
T |
5: 32,511,011 (GRCm39) |
A1292V |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,489,592 (GRCm39) |
E223G |
probably damaging |
Het |
Pou1f1 |
A |
T |
16: 65,326,685 (GRCm39) |
Q121L |
possibly damaging |
Het |
Rbm25 |
G |
A |
12: 83,689,500 (GRCm39) |
G47D |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,983,588 (GRCm39) |
M577K |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,905,943 (GRCm39) |
E712G |
possibly damaging |
Het |
Snx24 |
A |
G |
18: 53,460,509 (GRCm39) |
N29S |
probably benign |
Het |
Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,597,985 (GRCm39) |
N19643H |
probably damaging |
Het |
Uimc1 |
T |
C |
13: 55,178,772 (GRCm39) |
T646A |
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 |
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 |
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 |