Incidental Mutation 'R5921:Glmp'
| ID |
461557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glmp
|
| Ensembl Gene |
ENSMUSG00000001418 |
| Gene Name |
glycosylated lysosomal membrane protein |
| Synonyms |
0610031J06Rik, NCU-G1 |
| MMRRC Submission |
044118-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5921 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88233283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 56
(S56P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001452]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000154381]
[ENSMUST00000176425]
[ENSMUST00000176519]
[ENSMUST00000168062]
[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
|
| 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
AA Change: S56P
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120235
Gene: ENSMUSG00000001418
AA Change: S56P
| 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: ENSMUST00000167000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164122
|
| 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: 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: 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: 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: 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
|
| 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: ENSMUST00000168971
|
| SMART Domains |
Protein: ENSMUSP00000131250
Gene: ENSMUSG00000001416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
1 |
38 |
5.6e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
95% (70/74) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
G |
A |
5: 35,969,555 (GRCm39) |
V223M |
probably damaging |
Het |
| Adamts7 |
T |
C |
9: 90,070,747 (GRCm39) |
S623P |
probably benign |
Het |
| Aqp7 |
G |
T |
4: 41,036,093 (GRCm39) |
N48K |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,428,017 (GRCm39) |
N181S |
probably benign |
Het |
| Blvra |
A |
T |
2: 126,929,283 (GRCm39) |
|
probably benign |
Het |
| Bmf |
C |
A |
2: 118,363,034 (GRCm39) |
|
probably benign |
Het |
| Bnc2 |
A |
T |
4: 84,211,292 (GRCm39) |
I454N |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,889,948 (GRCm39) |
L700H |
possibly damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,526,761 (GRCm39) |
V222A |
probably damaging |
Het |
| Cfap97d2 |
G |
T |
8: 13,784,840 (GRCm39) |
A34S |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,408,539 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,300,602 (GRCm39) |
I1066F |
probably damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,574,774 (GRCm39) |
E116G |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,383,975 (GRCm39) |
S310N |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,584,802 (GRCm39) |
V735E |
probably damaging |
Het |
| Eva1a |
T |
C |
6: 82,069,140 (GRCm39) |
Y156H |
probably damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,575,086 (GRCm39) |
I13T |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,702,203 (GRCm39) |
L527Q |
probably damaging |
Het |
| Fxyd4 |
G |
A |
6: 117,913,099 (GRCm39) |
|
probably benign |
Het |
| Gal |
A |
G |
19: 3,460,100 (GRCm39) |
S124P |
probably damaging |
Het |
| Gm5600 |
T |
C |
7: 113,307,413 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
A |
G |
2: 32,187,767 (GRCm39) |
N194S |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,817,254 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
A |
5: 134,246,426 (GRCm39) |
Y895N |
probably damaging |
Het |
| Hsd3b1 |
C |
A |
3: 98,765,215 (GRCm39) |
M22I |
probably benign |
Het |
| Ipo13 |
A |
C |
4: 117,769,286 (GRCm39) |
L169V |
probably benign |
Het |
| Kif13a |
G |
T |
13: 46,978,776 (GRCm39) |
T208K |
probably damaging |
Het |
| Klhl5 |
G |
T |
5: 65,320,299 (GRCm39) |
A618S |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,370,070 (GRCm39) |
L496* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,420,504 (GRCm39) |
I250T |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,783,606 (GRCm39) |
I632T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 48,954,324 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
A |
G |
11: 78,063,885 (GRCm39) |
M40T |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,908,046 (GRCm39) |
D298G |
probably damaging |
Het |
| Ociad1 |
A |
G |
5: 73,467,725 (GRCm39) |
D167G |
probably benign |
Het |
| Or14j4 |
A |
T |
17: 37,921,110 (GRCm39) |
C177* |
probably null |
Het |
| Or8s5 |
T |
C |
15: 98,238,310 (GRCm39) |
T187A |
probably benign |
Het |
| Or9s13 |
T |
A |
1: 92,548,344 (GRCm39) |
S239T |
probably benign |
Het |
| Pafah2 |
G |
T |
4: 134,145,380 (GRCm39) |
V255L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
| Pirb |
A |
C |
7: 3,719,693 (GRCm39) |
Y484* |
probably null |
Het |
| Prl8a6 |
A |
G |
13: 27,621,171 (GRCm39) |
S20P |
probably damaging |
Het |
| R3hdm4 |
A |
T |
10: 79,749,453 (GRCm39) |
V52E |
probably damaging |
Het |
| Rab3ip |
A |
G |
10: 116,775,152 (GRCm39) |
Y69H |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,466,808 (GRCm39) |
M330T |
possibly damaging |
Het |
| Sema4g |
G |
T |
19: 44,987,143 (GRCm39) |
G460V |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,094,098 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,065,595 (GRCm39) |
D943E |
probably benign |
Het |
| Slc12a4 |
T |
C |
8: 106,671,876 (GRCm39) |
|
probably null |
Het |
| Slc4a3 |
T |
G |
1: 75,534,088 (GRCm39) |
|
probably null |
Het |
| Slc4a8 |
C |
T |
15: 100,712,328 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,158,005 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
| Tbc1d5 |
G |
A |
17: 51,270,721 (GRCm39) |
T170M |
probably damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,538 (GRCm39) |
F185Y |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,209,193 (GRCm39) |
V87A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,551,207 (GRCm39) |
M31395K |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,414,686 (GRCm39) |
D2876E |
probably damaging |
Het |
| Uvssa |
T |
C |
5: 33,547,096 (GRCm39) |
S221P |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,546,030 (GRCm39) |
L634Q |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,477,336 (GRCm39) |
A355T |
probably benign |
Het |
| Xpo5 |
A |
T |
17: 46,532,347 (GRCm39) |
M461L |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,288,558 (GRCm39) |
F703Y |
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 |
|
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'- ACACCACTCAGAGTGTCCTG -3'
(R):5'- CAGGTTGGCAAGATCCAATG -3'
Sequencing Primer
(F):5'- CAGAGTGTCCTGAGTGTCAAC -3'
(R):5'- TTCCAGGAGAACTTGGCCAAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation