Incidental Mutation 'R4645:Erlin1'
| ID |
350198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erlin1
|
| Ensembl Gene |
ENSMUSG00000025198 |
| Gene Name |
ER lipid raft associated 1 |
| Synonyms |
Spfh1, Keo4, 2810439N09Rik |
| MMRRC Submission |
041906-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4645 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44023383-44058224 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44057759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 22
(Y22C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026217]
[ENSMUST00000071698]
[ENSMUST00000112028]
[ENSMUST00000119591]
[ENSMUST00000169092]
[ENSMUST00000172041]
[ENSMUST00000171952]
[ENSMUST00000170801]
|
| AlphaFold |
Q91X78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026217
|
| SMART Domains |
Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
15 |
254 |
3.5e-39 |
PFAM |
|
Pfam:Pkinase
|
15 |
298 |
8.3e-55 |
PFAM |
|
Blast:PHB
|
589 |
659 |
1e-38 |
BLAST |
|
IKKbetaNEMObind
|
706 |
743 |
1.64e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071698
AA Change: Y22C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: Y22C
| 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 |
possibly damaging
Transcript: ENSMUST00000112028
AA Change: Y22C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: Y22C
| 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: ENSMUST00000119591
|
| SMART Domains |
Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
15 |
253 |
9.1e-38 |
PFAM |
|
Pfam:Pkinase
|
15 |
298 |
8.5e-54 |
PFAM |
|
Blast:PHB
|
589 |
659 |
8e-39 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168602
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169092
AA Change: Y22C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170577
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172041
AA Change: Y22C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131012
Gene: ENSMUSG00000025198
AA Change: Y22C
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
23 |
158 |
8.76e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171952
AA Change: Y22C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127971
Gene: ENSMUSG00000025198
AA Change: Y22C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
23 |
N/A |
INTRINSIC |
|
Blast:PHB
|
24 |
66 |
3e-24 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170801
AA Change: Y22C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: Y22C
| 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: ENSMUST00000172262
|
| SMART Domains |
Protein: ENSMUSP00000126271
Gene: ENSMUSG00000025198
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PHB
|
14 |
59 |
4e-16 |
BLAST |
|
| Meta Mutation Damage Score |
0.2446 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (53/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,635,700 (GRCm39) |
E101G |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,748,416 (GRCm39) |
E29G |
probably damaging |
Het |
| Agfg2 |
T |
A |
5: 137,682,854 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,728,765 (GRCm39) |
S468G |
probably benign |
Het |
| AY702103 |
G |
T |
17: 50,546,941 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc14 |
T |
C |
16: 34,542,110 (GRCm39) |
L536S |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,658 (GRCm39) |
M101I |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,800,957 (GRCm39) |
V2496E |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,303,285 (GRCm39) |
G2486V |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,926,602 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
C |
15: 71,334,189 (GRCm39) |
T1002A |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,033,063 (GRCm39) |
V70A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,349,842 (GRCm39) |
|
probably benign |
Het |
| Immt |
T |
C |
6: 71,833,923 (GRCm39) |
L184P |
probably damaging |
Het |
| Iqsec1 |
T |
G |
6: 90,644,995 (GRCm39) |
K983T |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,765,897 (GRCm39) |
N568K |
probably damaging |
Het |
| Lbhd1 |
T |
G |
19: 8,861,452 (GRCm39) |
|
probably benign |
Het |
| Lrit2 |
C |
T |
14: 36,794,432 (GRCm39) |
R499C |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,461,213 (GRCm39) |
D748G |
probably damaging |
Het |
| Lrriq4 |
A |
G |
3: 30,704,892 (GRCm39) |
K292E |
probably benign |
Het |
| Ly96 |
G |
T |
1: 16,761,940 (GRCm39) |
E49* |
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,341,955 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,347,515 (GRCm39) |
M31V |
probably benign |
Het |
| Mok |
A |
T |
12: 110,774,873 (GRCm39) |
|
probably benign |
Het |
| Mpi |
T |
C |
9: 57,458,040 (GRCm39) |
H54R |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Or4c101 |
T |
C |
2: 88,390,722 (GRCm39) |
I292T |
probably damaging |
Het |
| Pomt1 |
G |
T |
2: 32,132,888 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
G |
A |
14: 33,353,169 (GRCm39) |
V303I |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,964,159 (GRCm39) |
K799R |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,860,093 (GRCm39) |
T652S |
probably benign |
Het |
| Slc8a2 |
C |
T |
7: 15,868,164 (GRCm39) |
T132I |
probably damaging |
Het |
| Spaca6 |
A |
T |
17: 18,056,307 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,544,949 (GRCm39) |
G2322W |
probably damaging |
Het |
| Thap1 |
A |
G |
8: 26,652,597 (GRCm39) |
T135A |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,228,400 (GRCm39) |
V537A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,578,680 (GRCm39) |
D24071G |
probably damaging |
Het |
| Tysnd1 |
G |
T |
10: 61,531,962 (GRCm39) |
V205L |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,079,081 (GRCm39) |
S1749P |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,162 (GRCm39) |
*846C |
probably null |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,317 (GRCm39) |
S343N |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,379,787 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,165,764 (GRCm39) |
S696P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,002 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Zswim2 |
G |
T |
2: 83,745,891 (GRCm39) |
H516N |
probably benign |
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 |
|
IGL02171:Erlin1
|
APN |
19 |
44,037,555 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTGGGATGAAACCACTTCC -3'
(R):5'- GAAGAGGTGTCACGACGTAC -3'
Sequencing Primer
(F):5'- GGATGAAACCACTTCCCAGGC -3'
(R):5'- TGTCACGACGTACGCCGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation