Incidental Mutation 'R5335:Glmp'
ID |
423457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glmp
|
Ensembl Gene |
ENSMUSG00000001418 |
Gene Name |
glycosylated lysosomal membrane protein |
Synonyms |
0610031J06Rik, NCU-G1 |
MMRRC Submission |
042916-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5335 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to T
at 88233962 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]
[ENSMUST00000177005]
[ENSMUST00000176519]
[ENSMUST00000176425]
[ENSMUST00000164166]
[ENSMUST00000154381]
|
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: ENSMUST00000152801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153716
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164122
|
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: 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: 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: 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: ENSMUST00000168971
|
SMART Domains |
Protein: ENSMUSP00000131250 Gene: ENSMUSG00000001416
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
1 |
38 |
5.6e-8 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (62/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010003K11Rik |
A |
G |
19: 4,548,292 (GRCm39) |
W86R |
probably damaging |
Het |
Ankrd6 |
T |
C |
4: 32,818,651 (GRCm39) |
E225G |
probably damaging |
Het |
Atxn10 |
A |
G |
15: 85,220,785 (GRCm39) |
|
probably null |
Het |
Bcas2 |
A |
G |
3: 103,082,951 (GRCm39) |
I146V |
probably damaging |
Het |
C2cd6 |
T |
A |
1: 59,043,393 (GRCm39) |
|
noncoding transcript |
Het |
Cachd1 |
G |
A |
4: 100,825,282 (GRCm39) |
V579I |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 113,888,889 (GRCm39) |
T311A |
unknown |
Het |
Cyp2c50 |
A |
T |
19: 40,079,060 (GRCm39) |
L134F |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,195,589 (GRCm39) |
H369R |
probably damaging |
Het |
Dis3 |
A |
G |
14: 99,335,089 (GRCm39) |
V171A |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,601,695 (GRCm39) |
N3718D |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,003,340 (GRCm39) |
I541V |
probably damaging |
Het |
Eif3i |
T |
C |
4: 129,488,979 (GRCm39) |
D86G |
probably benign |
Het |
Epc1 |
C |
T |
18: 6,490,689 (GRCm39) |
|
probably benign |
Het |
Epc2 |
A |
G |
2: 49,403,242 (GRCm39) |
N110S |
probably benign |
Het |
Epha8 |
A |
T |
4: 136,659,246 (GRCm39) |
L831Q |
probably damaging |
Het |
Esd |
G |
T |
14: 74,979,553 (GRCm39) |
R119I |
probably damaging |
Het |
F2 |
T |
C |
2: 91,465,277 (GRCm39) |
K96E |
possibly damaging |
Het |
Fcgbp |
T |
C |
7: 27,789,159 (GRCm39) |
V575A |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gemin6 |
T |
C |
17: 80,533,184 (GRCm39) |
V39A |
probably damaging |
Het |
Gm10306 |
C |
A |
4: 94,445,044 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
A |
T |
1: 166,325,022 (GRCm39) |
L23* |
probably null |
Het |
Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
Ifi203 |
T |
C |
1: 173,754,485 (GRCm39) |
T749A |
possibly damaging |
Het |
Kcnip2 |
C |
A |
19: 45,782,685 (GRCm39) |
A133S |
probably benign |
Het |
Limch1 |
A |
T |
5: 67,039,300 (GRCm39) |
I76F |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,739,077 (GRCm39) |
|
probably null |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtcl3 |
A |
T |
10: 29,023,102 (GRCm39) |
I150L |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,224,020 (GRCm39) |
|
probably benign |
Het |
Odad2 |
A |
T |
18: 7,294,566 (GRCm39) |
Y16N |
probably benign |
Het |
Opcml |
A |
G |
9: 28,586,621 (GRCm39) |
D113G |
possibly damaging |
Het |
Or1j17 |
A |
T |
2: 36,578,106 (GRCm39) |
I31F |
probably benign |
Het |
Or1x2 |
A |
C |
11: 50,918,161 (GRCm39) |
N111H |
probably benign |
Het |
Or2ag18 |
A |
C |
7: 106,404,941 (GRCm39) |
S243A |
probably damaging |
Het |
Or2b6 |
A |
C |
13: 21,822,949 (GRCm39) |
V248G |
probably damaging |
Het |
Or51f1d |
A |
C |
7: 102,700,742 (GRCm39) |
D79A |
probably damaging |
Het |
Or52s19 |
A |
C |
7: 103,007,729 (GRCm39) |
L224R |
probably damaging |
Het |
Or5j1 |
T |
G |
2: 86,879,509 (GRCm39) |
K24Q |
probably damaging |
Het |
Pcdhb1 |
G |
T |
18: 37,400,308 (GRCm39) |
C753F |
probably benign |
Het |
Phip |
T |
C |
9: 82,782,809 (GRCm39) |
S879G |
possibly damaging |
Het |
Pi4k2b |
A |
G |
5: 52,899,098 (GRCm39) |
D13G |
possibly damaging |
Het |
Ptpn18 |
A |
T |
1: 34,502,259 (GRCm39) |
I68F |
probably damaging |
Het |
Rnf168 |
C |
T |
16: 32,117,402 (GRCm39) |
T321I |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Srgap1 |
C |
T |
10: 121,621,282 (GRCm39) |
|
probably benign |
Het |
Sry |
A |
T |
Y: 2,663,647 (GRCm39) |
H4Q |
probably benign |
Het |
Taf2 |
G |
A |
15: 54,909,136 (GRCm39) |
A703V |
probably benign |
Het |
Taf5l |
A |
G |
8: 124,730,390 (GRCm39) |
F65L |
probably damaging |
Het |
Tcp10b |
T |
C |
17: 13,281,954 (GRCm39) |
|
probably null |
Het |
Timm44 |
A |
T |
8: 4,316,814 (GRCm39) |
I273N |
probably damaging |
Het |
Tspan4 |
A |
G |
7: 141,069,528 (GRCm39) |
T43A |
probably damaging |
Het |
Ube2r2 |
T |
C |
4: 41,190,846 (GRCm39) |
|
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,754 (GRCm39) |
T195A |
possibly damaging |
Het |
Vmn1r197 |
T |
C |
13: 22,512,361 (GRCm39) |
I94T |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,673 (GRCm39) |
I677K |
probably damaging |
Het |
Zfp853 |
T |
A |
5: 143,274,318 (GRCm39) |
H434L |
unknown |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGATCTGGTCGACCTGCTCAG -3'
(R):5'- GGCTCACAACTGACTGTAGCTC -3'
Sequencing Primer
(F):5'- CAGATGTCTGCCAGTTAGAAGTG -3'
(R):5'- AACTGACTGTAGCTCTAGTTCCGG -3'
|
Posted On |
2016-08-04 |