Incidental Mutation 'IGL01010:Ehd3'
| ID |
54039 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ehd3
|
| Ensembl Gene |
ENSMUSG00000024065 |
| Gene Name |
EH-domain containing 3 |
| Synonyms |
Ehd2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01010
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
74111836-74139088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74134484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 281
(D281G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024860]
|
| AlphaFold |
Q9QXY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024860
AA Change: D281G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: D281G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EHD_N
|
24 |
56 |
1.6e-21 |
PFAM |
|
Pfam:MMR_HSR1
|
60 |
220 |
1.7e-8 |
PFAM |
|
Pfam:Dynamin_N
|
61 |
221 |
1.3e-12 |
PFAM |
|
low complexity region
|
420 |
433 |
N/A |
INTRINSIC |
|
EH
|
438 |
531 |
1.95e-45 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are healthy and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
A |
8: 73,199,059 (GRCm39) |
S155R |
probably damaging |
Het |
| Acss3 |
G |
T |
10: 106,859,710 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
G |
A |
10: 88,796,462 (GRCm39) |
T680I |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,827,375 (GRCm39) |
|
probably benign |
Het |
| Exoc5 |
A |
G |
14: 49,275,212 (GRCm39) |
L196P |
probably damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,946,914 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
A |
16: 91,439,980 (GRCm39) |
R4* |
probably null |
Het |
| Gm21738 |
T |
A |
14: 19,417,361 (GRCm38) |
T56S |
probably benign |
Het |
| Gm3573 |
T |
A |
14: 42,009,523 (GRCm39) |
I141L |
probably benign |
Het |
| Gpr6 |
A |
G |
10: 40,947,147 (GRCm39) |
M145T |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,142,427 (GRCm39) |
M91V |
probably benign |
Het |
| Mtarc2 |
T |
G |
1: 184,551,513 (GRCm39) |
I308L |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,368,925 (GRCm39) |
K529R |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,446 (GRCm39) |
V1164D |
probably damaging |
Het |
| Or2ag13 |
T |
C |
7: 106,473,460 (GRCm39) |
|
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,288 (GRCm39) |
I114N |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,503,984 (GRCm39) |
|
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,255 (GRCm39) |
S367G |
possibly damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,393,592 (GRCm39) |
M513V |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,606 (GRCm39) |
G722D |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,827,986 (GRCm39) |
E1005G |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,959,048 (GRCm39) |
L122Q |
possibly damaging |
Het |
| Traf2 |
G |
A |
2: 25,410,450 (GRCm39) |
R400* |
probably null |
Het |
| Trim33 |
C |
T |
3: 103,254,031 (GRCm39) |
Q153* |
probably null |
Het |
| Zmynd15 |
T |
C |
11: 70,356,742 (GRCm39) |
Y551H |
probably damaging |
Het |
| Znrd2 |
A |
G |
19: 5,781,293 (GRCm39) |
S78P |
probably damaging |
Het |
|
| Other mutations in Ehd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Ehd3
|
APN |
17 |
74,135,089 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01557:Ehd3
|
APN |
17 |
74,112,275 (GRCm39) |
missense |
probably benign |
|
|
IGL02214:Ehd3
|
APN |
17 |
74,127,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Ehd3
|
APN |
17 |
74,112,437 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02796:Ehd3
|
UTSW |
17 |
74,123,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0468:Ehd3
|
UTSW |
17 |
74,112,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0557:Ehd3
|
UTSW |
17 |
74,136,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1029:Ehd3
|
UTSW |
17 |
74,123,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1295:Ehd3
|
UTSW |
17 |
74,135,181 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1386:Ehd3
|
UTSW |
17 |
74,127,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Ehd3
|
UTSW |
17 |
74,137,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Ehd3
|
UTSW |
17 |
74,134,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4873:Ehd3
|
UTSW |
17 |
74,112,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Ehd3
|
UTSW |
17 |
74,112,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Ehd3
|
UTSW |
17 |
74,134,442 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5244:Ehd3
|
UTSW |
17 |
74,136,995 (GRCm39) |
missense |
probably benign |
|
|
R5283:Ehd3
|
UTSW |
17 |
74,127,498 (GRCm39) |
missense |
probably benign |
|
|
R5339:Ehd3
|
UTSW |
17 |
74,135,202 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5966:Ehd3
|
UTSW |
17 |
74,134,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Ehd3
|
UTSW |
17 |
74,134,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Ehd3
|
UTSW |
17 |
74,112,408 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6906:Ehd3
|
UTSW |
17 |
74,137,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Ehd3
|
UTSW |
17 |
74,137,179 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7368:Ehd3
|
UTSW |
17 |
74,134,457 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7410:Ehd3
|
UTSW |
17 |
74,112,428 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7891:Ehd3
|
UTSW |
17 |
74,123,387 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8848:Ehd3
|
UTSW |
17 |
74,136,911 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9161:Ehd3
|
UTSW |
17 |
74,134,480 (GRCm39) |
nonsense |
probably null |
|
|
R9258:Ehd3
|
UTSW |
17 |
74,127,561 (GRCm39) |
missense |
probably benign |
|
|
R9347:Ehd3
|
UTSW |
17 |
74,137,391 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9564:Ehd3
|
UTSW |
17 |
74,137,361 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Ehd3
|
UTSW |
17 |
74,112,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ehd3
|
UTSW |
17 |
74,137,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation