Incidental Mutation 'IGL00799:Ehd2'
| ID |
10452 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ehd2
|
| Ensembl Gene |
ENSMUSG00000074364 |
| Gene Name |
EH-domain containing 2 |
| Synonyms |
C130052H20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
IGL00799
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15680883-15701402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 15697392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 139
(A139T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098799]
[ENSMUST00000144956]
|
| AlphaFold |
Q8BH64 |
| PDB Structure |
Crystal structure of an EHD ATPase involved in membrane remodelling [X-RAY DIFFRACTION]
Structural insights into the N-terminus of the EHD2 ATPase [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098799
AA Change: A139T
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364
AA Change: A139T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EHD_N
|
24 |
56 |
4.1e-19 |
PFAM |
|
Pfam:MMR_HSR1
|
60 |
220 |
2.2e-7 |
PFAM |
|
Pfam:Dynamin_N
|
61 |
221 |
2.4e-14 |
PFAM |
|
EH
|
443 |
536 |
2.96e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144956
AA Change: A3T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000119933
Gene: ENSMUSG00000074364
AA Change: A3T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
4 |
84 |
2.4e-7 |
PFAM |
|
Pfam:Dynamin_N
|
4 |
85 |
1.8e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
A |
T |
4: 144,281,843 (GRCm39) |
H316Q |
probably benign |
Het |
| Boc |
G |
T |
16: 44,313,318 (GRCm39) |
D515E |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,934,678 (GRCm39) |
|
probably null |
Het |
| Ctcf |
A |
G |
8: 106,403,968 (GRCm39) |
D608G |
unknown |
Het |
| Dab2ip |
A |
G |
2: 35,597,787 (GRCm39) |
I99V |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,828,047 (GRCm39) |
I981F |
possibly damaging |
Het |
| Fam151b |
C |
A |
13: 92,614,361 (GRCm39) |
K42N |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,589,872 (GRCm39) |
D1002E |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,028,222 (GRCm39) |
Y290C |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,522,786 (GRCm39) |
S155G |
probably benign |
Het |
| Hp |
A |
G |
8: 110,302,250 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
C |
6: 115,854,497 (GRCm39) |
S112P |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,794,452 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
T |
A |
15: 55,480,904 (GRCm39) |
L290* |
probably null |
Het |
| Nr5a2 |
T |
A |
1: 136,818,536 (GRCm39) |
D330V |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,102,700 (GRCm39) |
L157Q |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,839,521 (GRCm39) |
D116E |
possibly damaging |
Het |
| Slc23a3 |
A |
T |
1: 75,109,925 (GRCm39) |
I114N |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,347,878 (GRCm38) |
I1140L |
probably benign |
Het |
|
| Other mutations in Ehd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03117:Ehd2
|
APN |
7 |
15,684,396 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0485:Ehd2
|
UTSW |
7 |
15,686,001 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1858:Ehd2
|
UTSW |
7 |
15,686,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2151:Ehd2
|
UTSW |
7 |
15,686,128 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2857:Ehd2
|
UTSW |
7 |
15,698,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2859:Ehd2
|
UTSW |
7 |
15,698,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Ehd2
|
UTSW |
7 |
15,685,999 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6175:Ehd2
|
UTSW |
7 |
15,697,389 (GRCm39) |
nonsense |
probably null |
|
|
R6562:Ehd2
|
UTSW |
7 |
15,691,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6874:Ehd2
|
UTSW |
7 |
15,684,363 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7400:Ehd2
|
UTSW |
7 |
15,684,581 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7552:Ehd2
|
UTSW |
7 |
15,684,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7644:Ehd2
|
UTSW |
7 |
15,691,474 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7792:Ehd2
|
UTSW |
7 |
15,684,683 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8167:Ehd2
|
UTSW |
7 |
15,697,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8716:Ehd2
|
UTSW |
7 |
15,698,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8810:Ehd2
|
UTSW |
7 |
15,691,603 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9123:Ehd2
|
UTSW |
7 |
15,684,626 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9469:Ehd2
|
UTSW |
7 |
15,684,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Ehd2
|
UTSW |
7 |
15,686,077 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1088:Ehd2
|
UTSW |
7 |
15,697,391 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Ehd2
|
UTSW |
7 |
15,691,830 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation