Incidental Mutation 'IGL01318:Efhd2'
| ID |
73938 |
| 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 # |
IGL01318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141585453-141602231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141587176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 202
(N202S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036854]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036854
AA Change: N202S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000044502
Gene: ENSMUSG00000040659
AA Change: N202S
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
T |
C |
15: 90,112,592 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,608,554 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,297,296 (GRCm39) |
D585G |
probably null |
Het |
| Chaf1a |
G |
T |
17: 56,366,336 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,854,008 (GRCm39) |
S443P |
probably damaging |
Het |
| Dlk2 |
A |
G |
17: 46,613,390 (GRCm39) |
E215G |
probably damaging |
Het |
| Gkap1 |
A |
T |
13: 58,384,853 (GRCm39) |
I308K |
probably damaging |
Het |
| Gm9848 |
T |
A |
13: 113,244,774 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
G |
A |
1: 150,594,991 (GRCm39) |
T1826I |
probably damaging |
Het |
| Htr5a |
T |
C |
5: 28,047,742 (GRCm39) |
V99A |
probably benign |
Het |
| Inha |
T |
G |
1: 75,486,572 (GRCm39) |
F289C |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,945,294 (GRCm39) |
V519A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,364,390 (GRCm39) |
|
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,747 (GRCm39) |
V292A |
possibly damaging |
Het |
| Magea13 |
T |
A |
X: 57,964,829 (GRCm39) |
I196N |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,647,089 (GRCm39) |
|
probably benign |
Het |
| Mfap2 |
G |
T |
4: 140,742,856 (GRCm39) |
A175S |
possibly damaging |
Het |
| Milr1 |
G |
A |
11: 106,656,071 (GRCm39) |
A114T |
possibly damaging |
Het |
| Mogs |
G |
T |
6: 83,095,558 (GRCm39) |
V792F |
probably damaging |
Het |
| Nt5dc3 |
T |
A |
10: 86,661,089 (GRCm39) |
M418K |
possibly damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,490 (GRCm39) |
L61P |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,832,054 (GRCm39) |
E183G |
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,293 (GRCm39) |
N194K |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,190 (GRCm39) |
W756* |
probably null |
Het |
| Pgam5 |
A |
G |
5: 110,413,391 (GRCm39) |
Y235H |
probably damaging |
Het |
| Pgm5 |
G |
T |
19: 24,793,842 (GRCm39) |
A274E |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,411,260 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
A |
T |
12: 35,035,377 (GRCm39) |
N164I |
probably benign |
Het |
| Ralbp1 |
C |
A |
17: 66,171,277 (GRCm39) |
R232L |
probably damaging |
Het |
| Rnaseh2a |
C |
T |
8: 85,691,752 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,529,200 (GRCm39) |
H1819L |
possibly damaging |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,625,067 (GRCm39) |
S946A |
possibly damaging |
Het |
| Tph1 |
T |
G |
7: 46,314,662 (GRCm39) |
T22P |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,904 (GRCm39) |
I212T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,546,550 (GRCm39) |
I3442T |
probably benign |
Het |
| Vinac1 |
C |
A |
2: 128,880,622 (GRCm39) |
V435L |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,177,309 (GRCm39) |
I698V |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,774 (GRCm39) |
I240V |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,125,585 (GRCm39) |
T432A |
probably damaging |
Het |
|
| Other mutations in Efhd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01710:Efhd2
|
APN |
4 |
141,587,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation