Incidental Mutation 'R6103:Glmp'
ID |
485362 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glmp
|
Ensembl Gene |
ENSMUSG00000001418 |
Gene Name |
glycosylated lysosomal membrane protein |
Synonyms |
0610031J06Rik, NCU-G1 |
MMRRC Submission |
044253-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6103 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88235338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 238
(S238P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000176425]
[ENSMUST00000177005]
[ENSMUST00000154381]
[ENSMUST00000176519]
|
AlphaFold |
Q9JHJ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001454
AA Change: S257P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000001454 Gene: ENSMUSG00000001418 AA Change: S257P
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 |
probably benign
Transcript: ENSMUST00000176425
AA Change: S238P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000135575 Gene: ENSMUSG00000001418 AA Change: S238P
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: S323P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000135398 Gene: ENSMUSG00000001418 AA Change: S323P
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153716
|
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: 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,768,445 (GRCm39) |
S926P |
possibly damaging |
Het |
Acacb |
T |
A |
5: 114,383,942 (GRCm39) |
M2157K |
probably damaging |
Het |
Aco2 |
T |
C |
15: 81,797,452 (GRCm39) |
V636A |
probably benign |
Het |
Adgrf3 |
T |
C |
5: 30,401,265 (GRCm39) |
Y51C |
probably damaging |
Het |
Adprhl1 |
T |
C |
8: 13,272,055 (GRCm39) |
T1568A |
possibly damaging |
Het |
Ank1 |
T |
A |
8: 23,603,999 (GRCm39) |
S937T |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,508,578 (GRCm39) |
E340G |
probably damaging |
Het |
Avpr1b |
C |
T |
1: 131,537,155 (GRCm39) |
P90S |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 29,118,446 (GRCm39) |
H159R |
probably damaging |
Het |
Carmil3 |
A |
T |
14: 55,742,884 (GRCm39) |
T1185S |
probably benign |
Het |
Casp2 |
A |
T |
6: 42,256,814 (GRCm39) |
R357S |
probably damaging |
Het |
Ccdc34 |
A |
G |
2: 109,848,352 (GRCm39) |
D47G |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,605,596 (GRCm39) |
|
probably null |
Het |
Cd209d |
T |
C |
8: 3,928,304 (GRCm39) |
Y27C |
probably damaging |
Het |
Cep350 |
T |
A |
1: 155,800,322 (GRCm39) |
D1176V |
probably benign |
Het |
Cpd |
A |
T |
11: 76,690,625 (GRCm39) |
S844T |
probably benign |
Het |
Cyp4x1 |
A |
G |
4: 114,968,864 (GRCm39) |
L380P |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,626,781 (GRCm39) |
V376A |
probably benign |
Het |
Enam |
T |
A |
5: 88,650,187 (GRCm39) |
N565K |
probably damaging |
Het |
Fam110c |
G |
A |
12: 31,124,794 (GRCm39) |
W252* |
probably null |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Fgb |
T |
C |
3: 82,951,170 (GRCm39) |
D281G |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,457,209 (GRCm39) |
T2048S |
probably benign |
Het |
Fut8 |
A |
T |
12: 77,378,721 (GRCm39) |
|
probably benign |
Het |
Gm35315 |
T |
A |
5: 110,226,137 (GRCm39) |
Y434F |
probably damaging |
Het |
Gnpnat1 |
A |
G |
14: 45,620,856 (GRCm39) |
F71S |
probably damaging |
Het |
Gpnmb |
A |
G |
6: 49,019,820 (GRCm39) |
R64G |
possibly damaging |
Het |
Grxcr1 |
T |
C |
5: 68,323,547 (GRCm39) |
F275S |
possibly damaging |
Het |
Ift140 |
T |
A |
17: 25,312,100 (GRCm39) |
C1314S |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,318,917 (GRCm39) |
I127T |
possibly damaging |
Het |
Mmd2 |
A |
G |
5: 142,553,618 (GRCm39) |
|
probably null |
Het |
Ms4a3 |
A |
T |
19: 11,616,582 (GRCm39) |
V20D |
possibly damaging |
Het |
Mtres1 |
A |
T |
10: 43,408,916 (GRCm39) |
Y76N |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,460,663 (GRCm39) |
E272G |
probably damaging |
Het |
Naaladl1 |
G |
A |
19: 6,158,743 (GRCm39) |
G292S |
probably damaging |
Het |
Notch2 |
T |
A |
3: 98,043,059 (GRCm39) |
Y1475N |
possibly damaging |
Het |
Obp2a |
G |
A |
2: 25,590,163 (GRCm39) |
E21K |
probably damaging |
Het |
Or5ar1 |
A |
G |
2: 85,671,776 (GRCm39) |
Y120H |
probably damaging |
Het |
Osbpl10 |
T |
A |
9: 114,890,940 (GRCm39) |
Y109* |
probably null |
Het |
Plcd1 |
A |
T |
9: 118,901,109 (GRCm39) |
W749R |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,377,704 (GRCm39) |
E718G |
possibly damaging |
Het |
Rbm4 |
C |
T |
19: 4,837,947 (GRCm39) |
R295H |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Setdb2 |
T |
C |
14: 59,646,981 (GRCm39) |
|
probably null |
Het |
Slc25a18 |
C |
A |
6: 120,766,399 (GRCm39) |
L131I |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,064,809 (GRCm39) |
H221R |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,026,979 (GRCm39) |
W757R |
probably damaging |
Het |
Tmem183a |
C |
A |
1: 134,275,884 (GRCm39) |
V331L |
probably benign |
Het |
Try10 |
C |
A |
6: 41,333,484 (GRCm39) |
H76Q |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,748,599 (GRCm39) |
H4150L |
probably benign |
Het |
Vmn2r52 |
G |
A |
7: 9,905,327 (GRCm39) |
P171S |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,652,826 (GRCm39) |
T450A |
probably benign |
Het |
Yipf7 |
A |
T |
5: 69,698,405 (GRCm39) |
V34D |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zg16 |
A |
G |
7: 126,649,748 (GRCm39) |
V71A |
probably benign |
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 |
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'- CAGCTGTTATGGGGCTCTTCTC -3'
(R):5'- TTCCGAGGACTAGTGGAGAG -3'
Sequencing Primer
(F):5'- CCATCTGGCTTCATGCAATGG -3'
(R):5'- TGCCCAGAAGCATTGACCTAGAG -3'
|
Posted On |
2017-08-16 |