Incidental Mutation 'R5592:Glmp'
| ID |
437562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glmp
|
| Ensembl Gene |
ENSMUSG00000001418 |
| Gene Name |
glycosylated lysosomal membrane protein |
| Synonyms |
0610031J06Rik, NCU-G1 |
| MMRRC Submission |
043144-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 88233333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001452]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000164166]
[ENSMUST00000154381]
[ENSMUST00000177005]
[ENSMUST00000176425]
[ENSMUST00000176519]
[ENSMUST00000168062]
|
| AlphaFold |
Q9JHJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001452
|
| SMART Domains |
Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
33 |
527 |
3.2e-171 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001454
|
| SMART Domains |
Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
| 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: ENSMUST00000153716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164166
|
| SMART Domains |
Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
15 |
489 |
1.7e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154381
|
| SMART Domains |
Protein: ENSMUSP00000134809
Gene: ENSMUSG00000001418
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCU-G1
|
2 |
72 |
5.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177005
|
| SMART Domains |
Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
| 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: ENSMUST00000176425
|
| SMART Domains |
Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
37 |
314 |
3.3e-94 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000168062
|
| SMART Domains |
Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
33 |
520 |
2.3e-157 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168971
|
| SMART Domains |
Protein: ENSMUSP00000131250
Gene: ENSMUSG00000001416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
1 |
38 |
5.6e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
T |
1: 85,654,332 (GRCm39) |
F2I |
probably damaging |
Het |
| Adam17 |
C |
T |
12: 21,384,138 (GRCm39) |
S454N |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,089,088 (GRCm39) |
K501* |
probably null |
Het |
| Arhgap28 |
A |
T |
17: 68,165,267 (GRCm39) |
M543K |
probably damaging |
Het |
| Art3 |
T |
A |
5: 92,540,679 (GRCm39) |
Y141N |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,386,064 (GRCm39) |
T60I |
possibly damaging |
Het |
| Crmp1 |
A |
C |
5: 37,422,609 (GRCm39) |
I139L |
probably benign |
Het |
| Cul9 |
G |
A |
17: 46,831,517 (GRCm39) |
L1566F |
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Drd1 |
A |
T |
13: 54,208,190 (GRCm39) |
M1K |
probably null |
Het |
| Flii |
T |
G |
11: 60,611,225 (GRCm39) |
M449L |
probably benign |
Het |
| Galnt16 |
T |
C |
12: 80,635,293 (GRCm39) |
V343A |
probably damaging |
Het |
| Gimap4 |
A |
T |
6: 48,668,092 (GRCm39) |
E154D |
probably damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,734,183 (GRCm39) |
D119V |
probably benign |
Het |
| Gm5930 |
C |
T |
14: 44,568,886 (GRCm39) |
M245I |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,746,125 (GRCm39) |
H2901Q |
probably benign |
Het |
| Krt12 |
C |
T |
11: 99,311,650 (GRCm39) |
V184I |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mier3 |
T |
A |
13: 111,843,195 (GRCm39) |
Y182* |
probably null |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mmp25 |
A |
G |
17: 23,859,176 (GRCm39) |
V157A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ms4a6c |
A |
G |
19: 11,458,496 (GRCm39) |
|
probably benign |
Het |
| Ms4a6c |
A |
G |
19: 11,457,641 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,828,199 (GRCm39) |
|
noncoding transcript |
Het |
| Mucl3 |
T |
C |
17: 35,954,535 (GRCm39) |
Y9C |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,432,113 (GRCm39) |
M2308I |
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,549,908 (GRCm39) |
V463F |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,266,763 (GRCm39) |
|
probably null |
Het |
| Or52h9 |
A |
T |
7: 104,202,938 (GRCm39) |
N271Y |
probably benign |
Het |
| Or5l14 |
A |
G |
2: 87,792,684 (GRCm39) |
L184P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Paip1 |
C |
A |
13: 119,587,334 (GRCm39) |
D124E |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,091,164 (GRCm39) |
N379K |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,280,212 (GRCm39) |
E112G |
probably damaging |
Het |
| Prrg4 |
T |
C |
2: 104,663,123 (GRCm39) |
Y161C |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,449,187 (GRCm39) |
Y648H |
probably damaging |
Het |
| Rpa3 |
A |
T |
6: 8,257,694 (GRCm39) |
M56K |
probably benign |
Het |
| Scarf1 |
A |
T |
11: 75,416,513 (GRCm39) |
T652S |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,363,608 (GRCm39) |
K423R |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,876,731 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
C |
2: 84,875,863 (GRCm39) |
I574T |
probably benign |
Het |
| Synm |
A |
G |
7: 67,409,264 (GRCm39) |
L38P |
probably damaging |
Het |
| Ubqln4 |
T |
G |
3: 88,464,171 (GRCm39) |
M224R |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,332,326 (GRCm39) |
N561S |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,611,835 (GRCm39) |
Y483C |
probably benign |
Het |
| Vps13a |
G |
A |
19: 16,702,935 (GRCm39) |
L673F |
probably damaging |
Het |
| Zfp418 |
G |
T |
7: 7,184,314 (GRCm39) |
K92N |
possibly damaging |
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 |
|
IGL03212:Glmp
|
APN |
3 |
88,235,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGAGTCTCCTGCTGTC -3'
(R):5'- CAGGTTGGCAAGATCCAATGAG -3'
Sequencing Primer
(F):5'- TCTCCCGATCCTGCTGGG -3'
(R):5'- CAATGAGTTGGTGATATTGTTCCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation