Incidental Mutation 'IGL02171:Erlin1'
| ID |
283570 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Erlin1
|
| Ensembl Gene |
ENSMUSG00000025198 |
| Gene Name |
ER lipid raft associated 1 |
| Synonyms |
Spfh1, Keo4, 2810439N09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44023383-44058224 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 44037555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071698]
[ENSMUST00000112028]
[ENSMUST00000170801]
|
| AlphaFold |
Q91X78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071698
|
| SMART Domains |
Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
23 |
189 |
1.26e-38 |
SMART |
|
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
|
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112028
|
| SMART Domains |
Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
23 |
189 |
1.26e-38 |
SMART |
|
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
|
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170801
|
| SMART Domains |
Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
23 |
189 |
1.26e-38 |
SMART |
|
Blast:PHB
|
217 |
253 |
2e-12 |
BLAST |
|
low complexity region
|
254 |
271 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,921,237 (GRCm39) |
I772M |
probably benign |
Het |
| Abcg4 |
C |
A |
9: 44,186,306 (GRCm39) |
|
probably benign |
Het |
| Abo |
A |
G |
2: 26,738,969 (GRCm39) |
I18T |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,777,921 (GRCm39) |
|
probably benign |
Het |
| Apbb1 |
A |
G |
7: 105,208,333 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
G |
A |
5: 67,895,808 (GRCm39) |
S557L |
probably damaging |
Het |
| Bora |
G |
T |
14: 99,284,758 (GRCm39) |
D3Y |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,246,972 (GRCm39) |
D323G |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
| Dync1i1 |
G |
T |
6: 5,969,498 (GRCm39) |
R441L |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,370,895 (GRCm39) |
Y608F |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,883,040 (GRCm39) |
E2524G |
probably benign |
Het |
| Garem1 |
C |
T |
18: 21,262,298 (GRCm39) |
D839N |
probably damaging |
Het |
| Gdap1l1 |
T |
A |
2: 163,289,470 (GRCm39) |
V145E |
possibly damaging |
Het |
| Gvin3 |
G |
T |
7: 106,200,548 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
A |
T |
8: 111,178,590 (GRCm39) |
K1062* |
probably null |
Het |
| Igkv4-92 |
T |
C |
6: 68,732,573 (GRCm39) |
D2G |
probably benign |
Het |
| Lemd3 |
T |
A |
10: 120,769,527 (GRCm39) |
|
probably benign |
Het |
| Mbl1 |
C |
T |
14: 40,876,455 (GRCm39) |
|
probably benign |
Het |
| Mdh1 |
T |
C |
11: 21,507,438 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,945,578 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
C |
A |
12: 89,159,933 (GRCm39) |
P20T |
probably damaging |
Het |
| Nudt1 |
A |
G |
5: 140,323,348 (GRCm39) |
E100G |
probably damaging |
Het |
| Or2y1e |
T |
A |
11: 49,218,862 (GRCm39) |
F208Y |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,505,285 (GRCm39) |
D70V |
probably damaging |
Het |
| Palb2 |
A |
C |
7: 121,706,809 (GRCm39) |
S1083A |
probably damaging |
Het |
| Phc2 |
T |
G |
4: 128,604,858 (GRCm39) |
F198C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,379,542 (GRCm39) |
D1056G |
possibly damaging |
Het |
| Psg17 |
A |
G |
7: 18,552,712 (GRCm39) |
Y188H |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,103,543 (GRCm39) |
I1906F |
probably damaging |
Het |
| Sidt2 |
C |
A |
9: 45,864,068 (GRCm39) |
R150L |
possibly damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,314,043 (GRCm39) |
I144T |
probably damaging |
Het |
| Trip4 |
A |
G |
9: 65,788,332 (GRCm39) |
S38P |
probably damaging |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,117,816 (GRCm39) |
M843L |
possibly damaging |
Het |
| Zfp595 |
T |
A |
13: 67,464,719 (GRCm39) |
N518Y |
possibly damaging |
Het |
|
| Other mutations in Erlin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Erlin1
|
APN |
19 |
44,057,758 (GRCm39) |
nonsense |
probably null |
|
|
IGL00551:Erlin1
|
APN |
19 |
44,047,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01975:Erlin1
|
APN |
19 |
44,025,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02525:Erlin1
|
APN |
19 |
44,027,634 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02669:Erlin1
|
APN |
19 |
44,027,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Erlin1
|
APN |
19 |
44,051,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Erlin1
|
UTSW |
19 |
44,036,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Erlin1
|
UTSW |
19 |
44,037,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1914:Erlin1
|
UTSW |
19 |
44,047,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Erlin1
|
UTSW |
19 |
44,047,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Erlin1
|
UTSW |
19 |
44,056,056 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4584:Erlin1
|
UTSW |
19 |
44,057,758 (GRCm39) |
nonsense |
probably null |
|
|
R4607:Erlin1
|
UTSW |
19 |
44,051,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4633:Erlin1
|
UTSW |
19 |
44,029,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4645:Erlin1
|
UTSW |
19 |
44,057,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4652:Erlin1
|
UTSW |
19 |
44,029,231 (GRCm39) |
nonsense |
probably null |
|
|
R6550:Erlin1
|
UTSW |
19 |
44,025,602 (GRCm39) |
splice site |
probably null |
|
|
R7320:Erlin1
|
UTSW |
19 |
44,047,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Erlin1
|
UTSW |
19 |
44,044,598 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8171:Erlin1
|
UTSW |
19 |
44,057,768 (GRCm39) |
missense |
probably benign |
|
|
R8519:Erlin1
|
UTSW |
19 |
44,058,041 (GRCm39) |
unclassified |
probably benign |
|
|
R9223:Erlin1
|
UTSW |
19 |
44,029,184 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation