Incidental Mutation 'IGL00484:Glmp'
ID |
6846 |
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 # |
IGL00484
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
Type of Mutation |
splice site (3184 bp from exon) |
DNA Base Change (assembly) |
T to A
at 88233169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001452]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000176519]
[ENSMUST00000176425]
[ENSMUST00000168062]
[ENSMUST00000154381]
[ENSMUST00000164166]
[ENSMUST00000177005]
|
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
AA Change: D102E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000001454 Gene: ENSMUSG00000001418 AA Change: D102E
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 null
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 null
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 null
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: ENSMUST00000176519
AA Change: D102E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000135263 Gene: ENSMUSG00000001418 AA Change: D102E
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: ENSMUST00000167000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153716
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140039
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164122
|
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: 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 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: 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: 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: ENSMUST00000177005
AA Change: D102E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135398 Gene: ENSMUSG00000001418 AA Change: D102E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
Pfam:NCU-G1
|
54 |
397 |
1.1e-104 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
A |
G |
7: 139,455,860 (GRCm39) |
Q496R |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,416,220 (GRCm39) |
S1151T |
probably damaging |
Het |
Ankrd55 |
A |
G |
13: 112,504,328 (GRCm39) |
K330R |
probably benign |
Het |
Anln |
A |
T |
9: 22,272,120 (GRCm39) |
Y666* |
probably null |
Het |
Atp1a2 |
A |
G |
1: 172,103,569 (GRCm39) |
W984R |
probably damaging |
Het |
Atp8b3 |
G |
T |
10: 80,361,998 (GRCm39) |
|
probably benign |
Het |
Casc3 |
A |
G |
11: 98,714,028 (GRCm39) |
E420G |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,833,249 (GRCm39) |
D1724N |
probably benign |
Het |
Dhx15 |
T |
G |
5: 52,324,154 (GRCm39) |
E379D |
probably benign |
Het |
Dock1 |
T |
A |
7: 134,748,260 (GRCm39) |
|
probably benign |
Het |
Exph5 |
C |
T |
9: 53,288,006 (GRCm39) |
Q1696* |
probably null |
Het |
Fkbp6 |
C |
A |
5: 135,368,802 (GRCm39) |
A213S |
possibly damaging |
Het |
Fndc4 |
A |
G |
5: 31,450,840 (GRCm39) |
|
probably benign |
Het |
Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
H2ac22 |
G |
T |
13: 21,971,091 (GRCm39) |
R100S |
probably benign |
Het |
Hapstr1 |
T |
C |
16: 8,649,175 (GRCm39) |
|
probably benign |
Het |
Ighv1-19 |
G |
A |
12: 114,672,329 (GRCm39) |
T97I |
probably benign |
Het |
Kdm6b |
T |
C |
11: 69,297,132 (GRCm39) |
S407G |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,000,873 (GRCm39) |
Y2231C |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,884,188 (GRCm39) |
S2999T |
probably benign |
Het |
Lztr1 |
T |
C |
16: 17,335,314 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,964,867 (GRCm39) |
V972A |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,248,128 (GRCm39) |
S1725R |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,638,272 (GRCm39) |
V396A |
probably benign |
Het |
Nup205 |
A |
G |
6: 35,191,737 (GRCm39) |
Q1074R |
probably damaging |
Het |
Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
Peli1 |
T |
A |
11: 21,096,952 (GRCm39) |
V114E |
probably damaging |
Het |
Phf20l1 |
T |
G |
15: 66,487,482 (GRCm39) |
|
probably benign |
Het |
Pik3r1 |
A |
C |
13: 101,838,255 (GRCm39) |
I267S |
probably benign |
Het |
Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
Ppl |
A |
G |
16: 4,905,816 (GRCm39) |
I1493T |
probably benign |
Het |
Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
Pramel28 |
G |
A |
4: 143,693,184 (GRCm39) |
|
probably benign |
Het |
Prg3 |
A |
G |
2: 84,819,091 (GRCm39) |
I6V |
probably benign |
Het |
Ptprg |
T |
C |
14: 12,215,220 (GRCm38) |
V1069A |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 157,001,745 (GRCm39) |
|
probably null |
Het |
Slc36a2 |
A |
T |
11: 55,053,614 (GRCm39) |
Y341* |
probably null |
Het |
Snapc3 |
A |
G |
4: 83,354,633 (GRCm39) |
I215V |
probably damaging |
Het |
Srrm2 |
T |
A |
17: 24,037,492 (GRCm39) |
S1475T |
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,024,141 (GRCm39) |
D414E |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,623,520 (GRCm39) |
T468A |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,213,105 (GRCm39) |
T310A |
probably benign |
Het |
Tgfbr2 |
T |
A |
9: 115,987,357 (GRCm39) |
I51F |
probably benign |
Het |
Trip11 |
A |
T |
12: 101,851,570 (GRCm39) |
C546* |
probably null |
Het |
Ttbk2 |
C |
T |
2: 120,604,367 (GRCm39) |
W210* |
probably null |
Het |
Upk1b |
T |
G |
16: 38,600,378 (GRCm39) |
N201H |
possibly damaging |
Het |
Uqcc5 |
T |
A |
14: 30,810,879 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
T |
1: 188,514,710 (GRCm39) |
T3180S |
probably benign |
Het |
Vps13d |
T |
G |
4: 144,853,145 (GRCm39) |
Q2323P |
probably benign |
Het |
Zfp810 |
A |
T |
9: 22,189,605 (GRCm39) |
Y434* |
probably null |
Het |
|
Other mutations in Glmp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |