Incidental Mutation 'IGL01710:Efhd2'
ID |
104747 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Efhd2
|
Ensembl Gene |
ENSMUSG00000040659 |
Gene Name |
EF hand domain containing 2 |
Synonyms |
D4Wsu27e, 2600015J22Rik, swiprosin 1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL01710
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141585453-141602231 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141587872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 193
(F193S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036854]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036854
AA Change: F193S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044502 Gene: ENSMUSG00000040659 AA Change: F193S
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
EFh
|
96 |
124 |
1.44e-2 |
SMART |
EFh
|
132 |
160 |
2.71e0 |
SMART |
coiled coil region
|
199 |
237 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced germinal center responses and humoral type 2 immunity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
G |
A |
18: 62,004,645 (GRCm39) |
T48I |
probably damaging |
Het |
Ccpg1 |
T |
C |
9: 72,904,723 (GRCm39) |
|
probably benign |
Het |
Chkb |
G |
A |
15: 89,310,843 (GRCm39) |
Q379* |
probably null |
Het |
Chst15 |
T |
A |
7: 131,872,236 (GRCm39) |
D15V |
probably benign |
Het |
Cntn4 |
G |
A |
6: 106,527,392 (GRCm39) |
V425I |
possibly damaging |
Het |
Cpa6 |
T |
A |
1: 10,395,497 (GRCm39) |
N390I |
probably damaging |
Het |
Ell3 |
T |
C |
2: 121,271,993 (GRCm39) |
H128R |
probably damaging |
Het |
Ercc5 |
T |
G |
1: 44,203,235 (GRCm39) |
L291V |
probably damaging |
Het |
Eva1c |
A |
G |
16: 90,701,235 (GRCm39) |
Y302C |
probably damaging |
Het |
Fmo3 |
A |
C |
1: 162,810,612 (GRCm39) |
L26R |
probably damaging |
Het |
Galntl6 |
T |
A |
8: 58,989,002 (GRCm39) |
D17V |
probably damaging |
Het |
Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
Gstt2 |
A |
G |
10: 75,669,579 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,233,114 (GRCm39) |
L221Q |
probably damaging |
Het |
Hoxa3 |
T |
C |
6: 52,147,554 (GRCm39) |
|
probably benign |
Het |
Kctd12b |
T |
C |
X: 152,472,479 (GRCm39) |
D70G |
probably damaging |
Het |
Kdm7a |
T |
A |
6: 39,152,320 (GRCm39) |
E125D |
probably benign |
Het |
Klk1b21 |
T |
A |
7: 43,755,919 (GRCm39) |
F249L |
probably benign |
Het |
Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
Nomo1 |
T |
A |
7: 45,687,980 (GRCm39) |
L82Q |
probably damaging |
Het |
Or5p58 |
G |
T |
7: 107,694,449 (GRCm39) |
F109L |
probably benign |
Het |
Papolg |
A |
T |
11: 23,814,026 (GRCm39) |
S718T |
probably damaging |
Het |
Pex6 |
A |
G |
17: 47,036,252 (GRCm39) |
|
probably benign |
Het |
Pi4k2a |
T |
A |
19: 42,093,418 (GRCm39) |
L253Q |
probably damaging |
Het |
Prdx6b |
T |
A |
2: 80,123,490 (GRCm39) |
F100I |
probably damaging |
Het |
Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
Ptgfrn |
T |
C |
3: 100,980,404 (GRCm39) |
E312G |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,873,745 (GRCm39) |
I685V |
probably benign |
Het |
Setdb1 |
T |
C |
3: 95,246,164 (GRCm39) |
E586G |
probably damaging |
Het |
Sez6l2 |
C |
A |
7: 126,567,388 (GRCm39) |
T841K |
probably damaging |
Het |
Slc25a17 |
A |
T |
15: 81,211,527 (GRCm39) |
L163* |
probably null |
Het |
Slc35f3 |
A |
T |
8: 127,115,900 (GRCm39) |
I276F |
probably benign |
Het |
Tcerg1l |
T |
A |
7: 137,996,789 (GRCm39) |
K149N |
possibly damaging |
Het |
Tex28 |
T |
A |
X: 73,195,939 (GRCm39) |
K278* |
probably null |
Het |
Tmprss9 |
A |
G |
10: 80,733,793 (GRCm39) |
|
probably benign |
Het |
Tnfaip8l1 |
A |
G |
17: 56,478,782 (GRCm39) |
K24R |
probably benign |
Het |
Trim36 |
T |
C |
18: 46,321,455 (GRCm39) |
|
probably benign |
Het |
Uba1 |
C |
T |
X: 20,537,604 (GRCm39) |
T274I |
possibly damaging |
Het |
Ubr2 |
T |
C |
17: 47,254,335 (GRCm39) |
T1439A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,145,772 (GRCm39) |
D1523G |
possibly damaging |
Het |
Uchl4 |
A |
T |
9: 64,142,788 (GRCm39) |
T90S |
probably benign |
Het |
|
Other mutations in Efhd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01318:Efhd2
|
APN |
4 |
141,587,176 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01869:Efhd2
|
APN |
4 |
141,601,913 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4589:Efhd2
|
UTSW |
4 |
141,602,075 (GRCm39) |
small insertion |
probably benign |
|
R0109:Efhd2
|
UTSW |
4 |
141,601,878 (GRCm39) |
missense |
probably benign |
0.00 |
R0711:Efhd2
|
UTSW |
4 |
141,587,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R6861:Efhd2
|
UTSW |
4 |
141,587,192 (GRCm39) |
splice site |
probably null |
|
R7765:Efhd2
|
UTSW |
4 |
141,601,886 (GRCm39) |
missense |
probably damaging |
0.97 |
R8275:Efhd2
|
UTSW |
4 |
141,602,073 (GRCm39) |
missense |
probably benign |
0.31 |
R8504:Efhd2
|
UTSW |
4 |
141,587,186 (GRCm39) |
nonsense |
probably null |
|
RF008:Efhd2
|
UTSW |
4 |
141,602,069 (GRCm39) |
small insertion |
probably benign |
|
RF010:Efhd2
|
UTSW |
4 |
141,602,075 (GRCm39) |
small insertion |
probably benign |
|
RF012:Efhd2
|
UTSW |
4 |
141,602,079 (GRCm39) |
small insertion |
probably benign |
|
RF015:Efhd2
|
UTSW |
4 |
141,602,067 (GRCm39) |
small insertion |
probably benign |
|
RF016:Efhd2
|
UTSW |
4 |
141,602,067 (GRCm39) |
small insertion |
probably benign |
|
RF021:Efhd2
|
UTSW |
4 |
141,602,084 (GRCm39) |
small insertion |
probably benign |
|
RF023:Efhd2
|
UTSW |
4 |
141,602,073 (GRCm39) |
small insertion |
probably benign |
|
RF024:Efhd2
|
UTSW |
4 |
141,602,073 (GRCm39) |
small insertion |
probably benign |
|
RF025:Efhd2
|
UTSW |
4 |
141,602,082 (GRCm39) |
small insertion |
probably benign |
|
RF032:Efhd2
|
UTSW |
4 |
141,602,083 (GRCm39) |
small insertion |
probably benign |
|
RF044:Efhd2
|
UTSW |
4 |
141,602,079 (GRCm39) |
small insertion |
probably benign |
|
RF056:Efhd2
|
UTSW |
4 |
141,602,078 (GRCm39) |
small insertion |
probably benign |
|
RF057:Efhd2
|
UTSW |
4 |
141,602,080 (GRCm39) |
small insertion |
probably benign |
|
RF062:Efhd2
|
UTSW |
4 |
141,602,085 (GRCm39) |
small insertion |
probably benign |
|
RF062:Efhd2
|
UTSW |
4 |
141,602,066 (GRCm39) |
small insertion |
probably benign |
|
RF064:Efhd2
|
UTSW |
4 |
141,602,066 (GRCm39) |
small insertion |
probably benign |
|
Z1177:Efhd2
|
UTSW |
4 |
141,601,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |