Incidental Mutation 'IGL03090:Efhb'
ID |
418324 |
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 # |
IGL03090
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53769958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 117
(Q117R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024725]
|
AlphaFold |
Q8CDU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024725
AA Change: Q117R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000024725 Gene: ENSMUSG00000023931 AA Change: Q117R
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
A |
G |
8: 41,247,965 (GRCm39) |
Y25C |
probably benign |
Het |
Agap3 |
A |
C |
5: 24,706,204 (GRCm39) |
T823P |
possibly damaging |
Het |
Arap3 |
T |
C |
18: 38,122,165 (GRCm39) |
E641G |
probably benign |
Het |
Armc6 |
C |
T |
8: 70,684,004 (GRCm39) |
R16Q |
probably benign |
Het |
Asb15 |
T |
A |
6: 24,567,185 (GRCm39) |
I502K |
possibly damaging |
Het |
Atp8b3 |
T |
A |
10: 80,366,438 (GRCm39) |
N275I |
probably damaging |
Het |
Calr |
G |
A |
8: 85,573,373 (GRCm39) |
P19S |
possibly damaging |
Het |
Cdc6 |
T |
A |
11: 98,810,122 (GRCm39) |
L477* |
probably null |
Het |
Clba1 |
T |
C |
12: 112,779,340 (GRCm39) |
|
probably null |
Het |
Cnnm4 |
A |
G |
1: 36,510,952 (GRCm39) |
D60G |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,585,652 (GRCm39) |
Q1242K |
probably damaging |
Het |
Dusp18 |
T |
A |
11: 3,847,466 (GRCm39) |
I152N |
probably damaging |
Het |
Eef1akmt1 |
T |
C |
14: 57,795,543 (GRCm39) |
T69A |
probably damaging |
Het |
Fancd2 |
T |
A |
6: 113,514,558 (GRCm39) |
|
probably null |
Het |
Fat3 |
C |
T |
9: 16,288,535 (GRCm39) |
W329* |
probably null |
Het |
Frem3 |
A |
G |
8: 81,344,858 (GRCm39) |
Y1727C |
probably benign |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gatb |
C |
A |
3: 85,526,330 (GRCm39) |
|
probably benign |
Het |
Gpr33 |
A |
T |
12: 52,070,809 (GRCm39) |
S77T |
probably damaging |
Het |
Gramd1c |
A |
T |
16: 43,802,463 (GRCm39) |
D649E |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,854,221 (GRCm39) |
L3745H |
probably damaging |
Het |
Klk1b11 |
T |
A |
7: 43,426,977 (GRCm39) |
M87K |
probably benign |
Het |
Krt39 |
T |
G |
11: 99,409,833 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
T |
A |
2: 31,798,710 (GRCm39) |
|
probably benign |
Het |
Lars2 |
T |
G |
9: 123,285,025 (GRCm39) |
M786R |
probably damaging |
Het |
Lmcd1 |
T |
A |
6: 112,287,460 (GRCm39) |
S49T |
probably benign |
Het |
Lrba |
T |
C |
3: 86,680,448 (GRCm39) |
Y2689H |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,970,677 (GRCm39) |
V188A |
probably benign |
Het |
Mbd6 |
A |
C |
10: 127,123,013 (GRCm39) |
L49W |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,028,115 (GRCm39) |
Y100F |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,801,418 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,538,396 (GRCm39) |
D663G |
probably damaging |
Het |
Nup214 |
A |
T |
2: 31,908,254 (GRCm39) |
M1075L |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,382,165 (GRCm39) |
Y240* |
probably null |
Het |
Pomk |
T |
A |
8: 26,473,338 (GRCm39) |
N205I |
probably damaging |
Het |
Sdr16c5 |
A |
G |
4: 4,006,575 (GRCm39) |
|
probably benign |
Het |
Setd1a |
A |
G |
7: 127,385,672 (GRCm39) |
E250G |
possibly damaging |
Het |
Slc26a6 |
A |
G |
9: 108,737,890 (GRCm39) |
E541G |
probably benign |
Het |
Slc4a3 |
A |
G |
1: 75,531,661 (GRCm39) |
E876G |
probably benign |
Het |
Srrm4 |
A |
G |
5: 116,587,643 (GRCm39) |
|
probably benign |
Het |
Stx12 |
A |
G |
4: 132,590,540 (GRCm39) |
V119A |
probably benign |
Het |
Tmem8b |
T |
A |
4: 43,689,721 (GRCm39) |
S333T |
probably damaging |
Het |
Usp31 |
T |
C |
7: 121,278,753 (GRCm39) |
|
probably benign |
Het |
Utp18 |
T |
C |
11: 93,759,245 (GRCm39) |
R410G |
probably damaging |
Het |
Vmn1r172 |
T |
C |
7: 23,359,463 (GRCm39) |
I116T |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,172,041 (GRCm39) |
L274Q |
possibly damaging |
Het |
Wdfy3 |
A |
T |
5: 102,014,142 (GRCm39) |
F2655I |
probably damaging |
Het |
Zfp423 |
A |
T |
8: 88,508,071 (GRCm39) |
Y737N |
probably damaging |
Het |
Zyx |
C |
A |
6: 42,334,276 (GRCm39) |
S500* |
probably null |
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 |
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 |
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 |
2016-08-02 |