Incidental Mutation 'IGL01400:Ehd3'
| ID |
79610 |
| 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 # |
IGL01400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
74111836-74139088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74135089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 322
(F322L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024860]
|
| AlphaFold |
Q9QXY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024860
AA Change: F322L
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: F322L
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,960 (GRCm39) |
I133N |
probably damaging |
Het |
| Abl2 |
T |
G |
1: 156,462,754 (GRCm39) |
C510G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,070,959 (GRCm39) |
Y40C |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,528,454 (GRCm39) |
A311V |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,220 (GRCm39) |
D434G |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,840,211 (GRCm39) |
T2390P |
possibly damaging |
Het |
| Cpm |
C |
A |
10: 117,495,680 (GRCm39) |
N56K |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,156,156 (GRCm39) |
L455P |
probably damaging |
Het |
| Dcx |
T |
C |
X: 142,714,150 (GRCm39) |
K51E |
possibly damaging |
Het |
| Ell |
A |
G |
8: 71,031,563 (GRCm39) |
D87G |
probably damaging |
Het |
| Epor |
C |
T |
9: 21,870,735 (GRCm39) |
|
probably null |
Het |
| Exosc10 |
T |
G |
4: 148,649,728 (GRCm39) |
M386R |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,626 (GRCm39) |
I389T |
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,242 (GRCm39) |
E667D |
probably benign |
Het |
| Kmo |
T |
A |
1: 175,482,661 (GRCm39) |
D328E |
possibly damaging |
Het |
| Llgl1 |
A |
G |
11: 60,597,316 (GRCm39) |
H255R |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,799,911 (GRCm39) |
H416Q |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mdm1 |
T |
G |
10: 117,993,156 (GRCm39) |
H320Q |
probably damaging |
Het |
| Nol4 |
T |
A |
18: 22,956,555 (GRCm39) |
H209L |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,046 (GRCm39) |
C244S |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,339 (GRCm39) |
V773A |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,404,954 (GRCm39) |
N393S |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,385,373 (GRCm39) |
K700R |
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,786,386 (GRCm39) |
R623C |
possibly damaging |
Het |
| Slc14a2 |
T |
C |
18: 78,235,428 (GRCm39) |
N112D |
probably damaging |
Het |
| Snapc3 |
C |
T |
4: 83,368,414 (GRCm39) |
P304S |
probably damaging |
Het |
| Spin2c |
T |
A |
X: 152,616,621 (GRCm39) |
W145R |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,829,429 (GRCm39) |
E1075G |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,729,699 (GRCm39) |
R995Q |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,158 (GRCm39) |
L867* |
probably null |
Het |
| Vmn1r87 |
T |
G |
7: 12,866,230 (GRCm39) |
H19P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,273 (GRCm39) |
E139G |
possibly damaging |
Het |
|
| Other mutations in Ehd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Ehd3
|
APN |
17 |
74,134,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-11-05 |
Incidental Mutation