Incidental Mutation 'R6943:Glmp'
| ID |
540641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glmp
|
| Ensembl Gene |
ENSMUSG00000001418 |
| Gene Name |
glycosylated lysosomal membrane protein |
| Synonyms |
0610031J06Rik, NCU-G1 |
| MMRRC Submission |
045057-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6943 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88233917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 258
(Y258C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001452]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000154381]
[ENSMUST00000177005]
[ENSMUST00000164166]
[ENSMUST00000176425]
[ENSMUST00000176519]
|
| 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 damaging
Transcript: ENSMUST00000001454
AA Change: Y192C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
AA Change: Y192C
| 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 |
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 damaging
Transcript: ENSMUST00000177005
AA Change: Y258C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: Y258C
| 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: 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: ENSMUST00000168971
|
| SMART Domains |
Protein: ENSMUSP00000131250
Gene: ENSMUSG00000001416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
1 |
38 |
5.6e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176425
AA Change: Y173C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418
AA Change: Y173C
| 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 |
|
| Meta Mutation Damage Score |
0.7920 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,583,362 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
A |
G |
7: 24,623,156 (GRCm39) |
I423V |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,408,280 (GRCm39) |
L2389P |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,812,860 (GRCm39) |
M222V |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,985,016 (GRCm39) |
G3013C |
unknown |
Het |
| Camsap2 |
T |
C |
1: 136,232,187 (GRCm39) |
H136R |
probably damaging |
Het |
| Ccar1 |
A |
G |
10: 62,582,715 (GRCm39) |
V1047A |
unknown |
Het |
| Ccdc80 |
A |
G |
16: 44,915,445 (GRCm39) |
E67G |
probably benign |
Het |
| Ces3b |
G |
T |
8: 105,819,710 (GRCm39) |
G511V |
probably damaging |
Het |
| Cops6 |
T |
A |
5: 138,161,790 (GRCm39) |
H224Q |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,235,866 (GRCm39) |
D331V |
probably damaging |
Het |
| Dusp29 |
T |
C |
14: 21,727,135 (GRCm39) |
D171G |
probably damaging |
Het |
| Echs1 |
G |
A |
7: 139,688,007 (GRCm39) |
T266I |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,130,406 (GRCm39) |
C1017Y |
probably damaging |
Het |
| Epb41l5 |
C |
T |
1: 119,536,859 (GRCm39) |
R344Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,791,477 (GRCm39) |
V913I |
probably benign |
Het |
| Foxd4 |
A |
G |
19: 24,877,240 (GRCm39) |
F320S |
probably damaging |
Het |
| Frmpd4 |
C |
T |
X: 166,387,579 (GRCm39) |
R133K |
probably damaging |
Het |
| Gphn |
C |
G |
12: 78,538,955 (GRCm39) |
S200R |
possibly damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| H2-Q7 |
T |
G |
17: 35,658,560 (GRCm39) |
M66R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,004,058 (GRCm39) |
C219S |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 93,942,261 (GRCm39) |
M90K |
possibly damaging |
Het |
| Itga8 |
C |
A |
2: 12,160,182 (GRCm39) |
|
probably null |
Het |
| Klrk1 |
T |
A |
6: 129,598,203 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kmo |
T |
A |
1: 175,485,941 (GRCm39) |
F385I |
probably benign |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc3c |
A |
G |
11: 98,490,075 (GRCm39) |
D144G |
probably damaging |
Het |
| Lyzl4 |
C |
T |
9: 121,412,047 (GRCm39) |
W123* |
probably null |
Het |
| Map3k1 |
A |
G |
13: 111,909,246 (GRCm39) |
S77P |
probably benign |
Het |
| Mark1 |
T |
C |
1: 184,630,984 (GRCm39) |
T709A |
probably damaging |
Het |
| Nbr1 |
A |
T |
11: 101,468,777 (GRCm39) |
I878F |
probably damaging |
Het |
| Nedd1 |
A |
T |
10: 92,547,168 (GRCm39) |
H118Q |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,678,770 (GRCm39) |
G873S |
probably damaging |
Het |
| Ngly1 |
T |
G |
14: 16,283,467 (GRCm38) |
N415K |
probably damaging |
Het |
| Nol6 |
C |
A |
4: 41,118,962 (GRCm39) |
R677L |
probably damaging |
Het |
| Nop9 |
T |
C |
14: 55,990,270 (GRCm39) |
V471A |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,802,577 (GRCm39) |
N1333D |
probably benign |
Het |
| Nsun2 |
G |
A |
13: 69,778,152 (GRCm39) |
G478R |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,407 (GRCm39) |
Y257* |
probably null |
Het |
| Or1ad8 |
T |
A |
11: 50,898,153 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5m9b |
T |
C |
2: 85,905,264 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8g34 |
A |
T |
9: 39,373,159 (GRCm39) |
Y144F |
probably benign |
Het |
| Pcp4l1 |
T |
C |
1: 171,002,022 (GRCm39) |
E46G |
possibly damaging |
Het |
| Plek2 |
T |
C |
12: 78,936,083 (GRCm39) |
|
probably null |
Het |
| Rbl1 |
T |
G |
2: 157,030,206 (GRCm39) |
I434L |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,581,834 (GRCm39) |
V4777A |
possibly damaging |
Het |
| Sgk1 |
T |
C |
10: 21,758,593 (GRCm39) |
F19S |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,532,677 (GRCm39) |
A2978V |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,033,940 (GRCm39) |
T7711A |
probably benign |
Het |
| Taf10 |
G |
A |
7: 105,393,383 (GRCm39) |
T48I |
probably benign |
Het |
| Tgfbi |
T |
G |
13: 56,784,989 (GRCm39) |
S649A |
possibly damaging |
Het |
| Thbs3 |
T |
C |
3: 89,132,171 (GRCm39) |
V749A |
probably benign |
Het |
| Tmem241 |
G |
T |
18: 12,180,641 (GRCm39) |
H218N |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,284,851 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
C |
4: 63,900,982 (GRCm39) |
I1586M |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,164,442 (GRCm39) |
C2676* |
probably null |
Het |
| Unc13a |
A |
T |
8: 72,105,021 (GRCm39) |
I747N |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
| Vmn1r184 |
C |
T |
7: 25,966,563 (GRCm39) |
T103I |
possibly damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,474 (GRCm39) |
V35A |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,448,835 (GRCm39) |
H603R |
possibly damaging |
Het |
| Zfp105 |
A |
G |
9: 122,754,303 (GRCm39) |
D44G |
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,735,152 (GRCm39) |
H103R |
probably damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,795 (GRCm39) |
F947L |
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 |
|
|
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 |
|
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'- TAGATCTGGTCGACCTGCTCAG -3'
(R):5'- CTCACAACTGACTGTAGCTCTAG -3'
Sequencing Primer
(F):5'- GACCTGCTCAGCCCCCTC -3'
(R):5'- GGATTTGGCACCTTCACAGAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation