Incidental Mutation 'IGL01557:Ehd3'
| ID |
90760 |
| 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 # |
IGL01557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
74111836-74139088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74112275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 13
(K13R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024860]
|
| AlphaFold |
Q9QXY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024860
AA Change: K13R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: K13R
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,792 (GRCm39) |
|
probably null |
Het |
| Arl9 |
T |
G |
5: 77,151,948 (GRCm39) |
|
probably null |
Het |
| Ces3a |
C |
A |
8: 105,784,383 (GRCm39) |
T439K |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,921,711 (GRCm39) |
W408R |
probably damaging |
Het |
| Defb22 |
T |
G |
2: 152,327,999 (GRCm39) |
D62A |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 117,964,512 (GRCm39) |
R2422Q |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,975,221 (GRCm39) |
E1406G |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,732,203 (GRCm39) |
Y762D |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,522 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,331,472 (GRCm39) |
E68G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,060,474 (GRCm39) |
T2448A |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,584,192 (GRCm39) |
C317W |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,319,129 (GRCm39) |
S278T |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,890,510 (GRCm39) |
V20A |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,082,163 (GRCm39) |
N304K |
probably benign |
Het |
| Or14j8 |
G |
A |
17: 38,263,742 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,100 (GRCm39) |
V698A |
probably damaging |
Het |
| Pitrm1 |
C |
A |
13: 6,602,720 (GRCm39) |
D70E |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,203 (GRCm39) |
T3702A |
possibly damaging |
Het |
| Ppm1h |
A |
T |
10: 122,618,086 (GRCm39) |
|
probably null |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,731,636 (GRCm39) |
Y411C |
probably damaging |
Het |
| Spon2 |
G |
A |
5: 33,374,047 (GRCm39) |
A112V |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,426 (GRCm39) |
V195D |
probably benign |
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 |
|
IGL01400:Ehd3
|
APN |
17 |
74,135,089 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
2013-12-09 |
Incidental Mutation