Incidental Mutation 'IGL03212:Glmp'
| ID |
413353 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glmp
|
| Ensembl Gene |
ENSMUSG00000001418 |
| Gene Name |
glycosylated lysosomal membrane protein |
| Synonyms |
0610031J06Rik, NCU-G1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03212
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88235664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 317
(S317P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000177005]
[ENSMUST00000154381]
[ENSMUST00000176425]
[ENSMUST00000176519]
[ENSMUST00000193872]
|
| AlphaFold |
Q9JHJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001454
AA Change: S336P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
AA Change: S336P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
53 |
130 |
2.7e-26 |
PFAM |
|
Pfam:NCU-G1
|
124 |
333 |
4.8e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001456
|
| SMART Domains |
Protein: ENSMUSP00000001456
Gene: ENSMUSG00000001420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
337 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107552
|
| SMART Domains |
Protein: ENSMUSP00000103176
Gene: ENSMUSG00000001420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
337 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107553
|
| SMART Domains |
Protein: ENSMUSP00000103177
Gene: ENSMUSG00000001420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
337 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131666
|
| SMART Domains |
Protein: ENSMUSP00000120235
Gene: ENSMUSG00000001418
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177005
AA Change: S402P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: S402P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
54 |
397 |
1.1e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154381
AA Change: S75P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134809
Gene: ENSMUSG00000001418
AA Change: S75P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCU-G1
|
2 |
72 |
5.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176425
AA Change: S317P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418
AA Change: S317P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
37 |
314 |
3.3e-94 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000176519
|
| SMART Domains |
Protein: ENSMUSP00000135263
Gene: ENSMUSG00000001418
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
53 |
125 |
4.7e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153716
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193872
|
| SMART Domains |
Protein: ENSMUSP00000141830
Gene: ENSMUSG00000001420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutants for this allele displayed spontaneous development of liver fibrosis at 6 months and various hepatic cell phenotypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,242,085 (GRCm39) |
S657P |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,322,466 (GRCm39) |
N221I |
probably damaging |
Het |
| Atp5pd |
G |
T |
11: 115,306,597 (GRCm39) |
H155N |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,339,179 (GRCm39) |
N316K |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,814,878 (GRCm39) |
M1861K |
probably benign |
Het |
| Cfap69 |
T |
G |
5: 5,707,849 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,803,520 (GRCm39) |
P2169Q |
unknown |
Het |
| Cyp2j5 |
G |
T |
4: 96,552,055 (GRCm39) |
H65N |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,290,309 (GRCm39) |
V1233A |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,680,484 (GRCm39) |
L407* |
probably null |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,121 (GRCm39) |
D340G |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gm5581 |
A |
T |
6: 131,158,413 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5624 |
A |
T |
14: 44,798,167 (GRCm39) |
N103K |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,332,013 (GRCm39) |
F98S |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,329,942 (GRCm39) |
V104A |
probably damaging |
Het |
| Igkv4-79 |
A |
C |
6: 69,020,214 (GRCm39) |
S34A |
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,235,586 (GRCm39) |
P1532S |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,877,819 (GRCm39) |
K490R |
unknown |
Het |
| Or5d46 |
T |
A |
2: 88,170,016 (GRCm39) |
Y36N |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,826,132 (GRCm39) |
Q287L |
probably benign |
Het |
| Plxna1 |
T |
A |
6: 89,308,885 (GRCm39) |
T1198S |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,340,769 (GRCm39) |
D367G |
probably damaging |
Het |
| Rbm28 |
G |
T |
6: 29,131,274 (GRCm39) |
R10S |
probably damaging |
Het |
| Rdh10 |
T |
G |
1: 16,178,051 (GRCm39) |
C108G |
probably benign |
Het |
| Rfx7 |
C |
A |
9: 72,526,443 (GRCm39) |
T1211K |
probably benign |
Het |
| Slc24a5 |
C |
A |
2: 124,922,750 (GRCm39) |
T141N |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 81,438,410 (GRCm39) |
N642I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,750,886 (GRCm39) |
R344L |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,556,642 (GRCm39) |
I355N |
probably damaging |
Het |
| Tram1l1 |
G |
A |
3: 124,115,563 (GRCm39) |
G241D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,074 (GRCm39) |
T982A |
probably benign |
Het |
| Vmn2r52 |
T |
G |
7: 9,893,474 (GRCm39) |
H555P |
possibly damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,286 (GRCm39) |
M313K |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,445 (GRCm39) |
Y61* |
probably null |
Het |
|
| Other mutations in Glmp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Glmp
|
APN |
3 |
88,233,169 (GRCm39) |
splice site |
probably null |
|
|
IGL02551:Glmp
|
APN |
3 |
88,232,389 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R0325:Glmp
|
UTSW |
3 |
88,232,391 (GRCm39) |
start codon destroyed |
probably null |
0.72 |
|
R0719:Glmp
|
UTSW |
3 |
88,233,452 (GRCm39) |
nonsense |
probably null |
|
|
R0721:Glmp
|
UTSW |
3 |
88,233,452 (GRCm39) |
nonsense |
probably null |
|
|
R1617:Glmp
|
UTSW |
3 |
88,235,426 (GRCm39) |
splice site |
probably benign |
|
|
R1970:Glmp
|
UTSW |
3 |
88,235,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Glmp
|
UTSW |
3 |
88,233,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Glmp
|
UTSW |
3 |
88,233,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Glmp
|
UTSW |
3 |
88,235,346 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4697:Glmp
|
UTSW |
3 |
88,235,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4806:Glmp
|
UTSW |
3 |
88,233,320 (GRCm39) |
intron |
probably benign |
|
|
R4823:Glmp
|
UTSW |
3 |
88,232,530 (GRCm39) |
intron |
probably benign |
|
|
R5035:Glmp
|
UTSW |
3 |
88,233,951 (GRCm39) |
splice site |
probably benign |
|
|
R5043:Glmp
|
UTSW |
3 |
88,233,983 (GRCm39) |
intron |
probably benign |
|
|
R5335:Glmp
|
UTSW |
3 |
88,233,962 (GRCm39) |
intron |
probably benign |
|
|
R5592:Glmp
|
UTSW |
3 |
88,233,333 (GRCm39) |
intron |
probably benign |
|
|
R5738:Glmp
|
UTSW |
3 |
88,233,445 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5921:Glmp
|
UTSW |
3 |
88,233,283 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6046:Glmp
|
UTSW |
3 |
88,232,495 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6103:Glmp
|
UTSW |
3 |
88,235,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6859:Glmp
|
UTSW |
3 |
88,235,349 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6943:Glmp
|
UTSW |
3 |
88,233,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Glmp
|
UTSW |
3 |
88,233,139 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7204:Glmp
|
UTSW |
3 |
88,233,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Glmp
|
UTSW |
3 |
88,233,077 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8022:Glmp
|
UTSW |
3 |
88,233,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Glmp
|
UTSW |
3 |
88,233,045 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8296:Glmp
|
UTSW |
3 |
88,233,580 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8986:Glmp
|
UTSW |
3 |
88,233,002 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9266:Glmp
|
UTSW |
3 |
88,233,036 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9335:Glmp
|
UTSW |
3 |
88,235,563 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation