Incidental Mutation 'R6859:Glmp'
ID |
537792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glmp
|
Ensembl Gene |
ENSMUSG00000001418 |
Gene Name |
glycosylated lysosomal membrane protein |
Synonyms |
0610031J06Rik, NCU-G1 |
MMRRC Submission |
044961-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6859 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 88235349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 260
(N260K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000154381]
[ENSMUST00000176425]
[ENSMUST00000177005]
[ENSMUST00000176519]
|
AlphaFold |
Q9JHJ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001454
AA Change: N260K
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000001454 Gene: ENSMUSG00000001418 AA Change: N260K
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 benign
Transcript: ENSMUST00000176425
AA Change: N241K
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000135575 Gene: ENSMUSG00000001418 AA Change: N241K
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: ENSMUST00000177005
AA Change: N326K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000135398 Gene: ENSMUSG00000001418 AA Change: N326K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (42/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,669,799 (GRCm39) |
V788A |
possibly damaging |
Het |
Abca15 |
A |
T |
7: 120,002,217 (GRCm39) |
K1577* |
probably null |
Het |
Arhgap12 |
T |
C |
18: 6,111,803 (GRCm39) |
E187G |
probably damaging |
Het |
Arhgef10 |
T |
A |
8: 15,025,005 (GRCm39) |
Y398N |
probably damaging |
Het |
Baz2b |
C |
T |
2: 59,731,874 (GRCm39) |
V2055I |
probably benign |
Het |
Btnl4 |
T |
C |
17: 34,688,353 (GRCm39) |
D475G |
probably damaging |
Het |
C1qtnf12 |
T |
A |
4: 156,050,070 (GRCm39) |
F190Y |
probably damaging |
Het |
Cacul1 |
A |
G |
19: 60,522,683 (GRCm39) |
S284P |
probably damaging |
Het |
Ccdc166 |
C |
A |
15: 75,853,820 (GRCm39) |
V87L |
possibly damaging |
Het |
Ceacam13 |
C |
T |
7: 17,747,032 (GRCm39) |
P162S |
probably damaging |
Het |
Cep250 |
T |
A |
2: 155,834,446 (GRCm39) |
S2124T |
probably benign |
Het |
Chd5 |
T |
C |
4: 152,462,664 (GRCm39) |
S1372P |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,067,730 (GRCm39) |
R145L |
probably benign |
Het |
Cyp4f40 |
T |
C |
17: 32,894,923 (GRCm39) |
S454P |
probably benign |
Het |
Defa3 |
T |
A |
8: 21,778,213 (GRCm39) |
C66S |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,486,016 (GRCm39) |
L653Q |
probably damaging |
Het |
Il18rap |
T |
A |
1: 40,564,255 (GRCm39) |
Y124* |
probably null |
Het |
Lao1 |
A |
C |
4: 118,820,948 (GRCm39) |
K58T |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,622,487 (GRCm39) |
|
probably null |
Het |
Mrgpra3 |
G |
C |
7: 47,239,781 (GRCm39) |
I48M |
probably benign |
Het |
Nck2 |
T |
G |
1: 43,593,511 (GRCm39) |
N239K |
probably benign |
Het |
Optc |
A |
T |
1: 133,825,554 (GRCm39) |
V324E |
possibly damaging |
Het |
Or12k7 |
A |
T |
2: 36,958,794 (GRCm39) |
Y159F |
probably damaging |
Het |
Or4p8 |
A |
G |
2: 88,727,278 (GRCm39) |
I221T |
probably benign |
Het |
Or51b6 |
G |
A |
7: 103,555,908 (GRCm39) |
W84* |
probably null |
Het |
Otog |
T |
C |
7: 45,923,205 (GRCm39) |
S1027P |
probably damaging |
Het |
Plbd2 |
A |
G |
5: 120,641,407 (GRCm39) |
F84L |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,935,838 (GRCm39) |
L110P |
probably damaging |
Het |
Prnp |
T |
C |
2: 131,778,708 (GRCm39) |
V120A |
possibly damaging |
Het |
Ptprh |
C |
A |
7: 4,552,370 (GRCm39) |
E965* |
probably null |
Het |
Reln |
T |
C |
5: 22,239,568 (GRCm39) |
T900A |
probably damaging |
Het |
Stt3a |
A |
G |
9: 36,646,682 (GRCm39) |
Y644H |
probably damaging |
Het |
Sulf2 |
A |
G |
2: 165,929,039 (GRCm39) |
Y311H |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,056,626 (GRCm39) |
I438N |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,387,937 (GRCm39) |
V356A |
possibly damaging |
Het |
Tecta |
T |
C |
9: 42,303,425 (GRCm39) |
N69S |
probably damaging |
Het |
Topaz1 |
T |
C |
9: 122,631,023 (GRCm39) |
V1618A |
probably benign |
Het |
Usp48 |
C |
T |
4: 137,352,587 (GRCm39) |
T627I |
possibly damaging |
Het |
Vcl |
T |
C |
14: 21,037,143 (GRCm39) |
V247A |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,693,277 (GRCm39) |
L441P |
probably damaging |
Het |
Zfp869 |
C |
T |
8: 70,159,175 (GRCm39) |
G466D |
probably 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 |
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'- TATGGGGCTCTTCTCCATCTGG -3'
(R):5'- GCCATGATTCCGAGGACTAGTG -3'
Sequencing Primer
(F):5'- ATCTGGCTTCATGCAATGGC -3'
(R):5'- GGAAGCCCATGCCCAGAAG -3'
|
Posted On |
2018-10-18 |