Incidental Mutation 'R3824:Glmp'
| ID |
275258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glmp
|
| Ensembl Gene |
ENSMUSG00000001418 |
| Gene Name |
glycosylated lysosomal membrane protein |
| Synonyms |
0610031J06Rik, NCU-G1 |
| MMRRC Submission |
040885-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3824 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88233718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 107
(V107I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001452]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000177005]
[ENSMUST00000176425]
[ENSMUST00000176519]
[ENSMUST00000164166]
[ENSMUST00000168062]
[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 damaging
Transcript: ENSMUST00000001454
AA Change: V126I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
AA Change: V126I
| 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 |
possibly damaging
Transcript: ENSMUST00000177005
AA Change: V192I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: V192I
| 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 damaging
Transcript: ENSMUST00000176425
AA Change: V107I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418
AA Change: V107I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
37 |
314 |
3.3e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164122
|
| 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: 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: 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: 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 |
0.1363 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (62/65) |
| 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 |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,508 (GRCm39) |
C20R |
probably benign |
Het |
| 6030468B19Rik |
A |
G |
11: 117,693,739 (GRCm39) |
K69E |
probably damaging |
Het |
| 9430015G10Rik |
T |
A |
4: 156,203,607 (GRCm39) |
|
probably null |
Het |
| A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
| Abcc3 |
T |
C |
11: 94,259,446 (GRCm39) |
|
probably null |
Het |
| Acad10 |
A |
T |
5: 121,760,881 (GRCm39) |
M941K |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,253,759 (GRCm39) |
L1649P |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,061,930 (GRCm39) |
R402G |
possibly damaging |
Het |
| Atp4b |
T |
C |
8: 13,443,549 (GRCm39) |
Y43C |
probably damaging |
Het |
| Btn2a2 |
T |
A |
13: 23,664,635 (GRCm39) |
T308S |
probably benign |
Het |
| C8b |
G |
T |
4: 104,640,206 (GRCm39) |
A170S |
probably benign |
Het |
| Cabyr |
T |
A |
18: 12,884,747 (GRCm39) |
D411E |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,314,964 (GRCm39) |
|
probably benign |
Het |
| Cd200r4 |
T |
C |
16: 44,641,313 (GRCm39) |
F19L |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,774,856 (GRCm39) |
Y218N |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,273,154 (GRCm39) |
Y630H |
probably damaging |
Het |
| Coq6 |
T |
C |
12: 84,419,189 (GRCm39) |
|
probably benign |
Het |
| Drg2 |
A |
G |
11: 60,350,334 (GRCm39) |
T98A |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,419,884 (GRCm39) |
S1015R |
possibly damaging |
Het |
| Gjb4 |
A |
G |
4: 127,245,222 (GRCm39) |
S240P |
probably benign |
Het |
| Gls |
A |
C |
1: 52,272,147 (GRCm39) |
M2R |
possibly damaging |
Het |
| Igfbp4 |
A |
G |
11: 98,939,061 (GRCm39) |
E27G |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,225,621 (GRCm39) |
Y645* |
probably null |
Het |
| Kat6a |
G |
T |
8: 23,352,380 (GRCm39) |
V55F |
probably damaging |
Het |
| Kat8 |
T |
A |
7: 127,523,654 (GRCm39) |
D292E |
possibly damaging |
Het |
| Myo19 |
T |
A |
11: 84,776,505 (GRCm39) |
C54S |
probably damaging |
Het |
| Myo5b |
C |
T |
18: 74,794,726 (GRCm39) |
H532Y |
probably benign |
Het |
| Nckap1 |
T |
C |
2: 80,370,904 (GRCm39) |
K357E |
possibly damaging |
Het |
| Ndufaf1 |
C |
T |
2: 119,490,752 (GRCm39) |
V105M |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,620 (GRCm39) |
S260G |
possibly damaging |
Het |
| Or8b101 |
A |
T |
9: 38,020,134 (GRCm39) |
I51F |
possibly damaging |
Het |
| Or8b1b |
T |
A |
9: 38,375,822 (GRCm39) |
C162S |
probably benign |
Het |
| Or8c17 |
T |
G |
9: 38,179,814 (GRCm39) |
S2A |
probably benign |
Het |
| Or8k30 |
T |
G |
2: 86,339,367 (GRCm39) |
L188R |
possibly damaging |
Het |
| Palld |
T |
C |
8: 62,162,067 (GRCm39) |
D439G |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,308,828 (GRCm39) |
|
probably benign |
Het |
| Pigo |
A |
T |
4: 43,020,909 (GRCm39) |
W678R |
possibly damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,283 (GRCm39) |
|
probably null |
Het |
| Plscr3 |
G |
A |
11: 69,740,964 (GRCm39) |
V267M |
probably benign |
Het |
| Pramel24 |
A |
T |
4: 143,453,255 (GRCm39) |
H121L |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,377,593 (GRCm39) |
|
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,876,304 (GRCm39) |
I1049T |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,186,694 (GRCm39) |
I1743F |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,116,570 (GRCm39) |
V894A |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,693,131 (GRCm39) |
T105A |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 141,921,804 (GRCm39) |
T267A |
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,700,100 (GRCm39) |
Q144R |
possibly damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,711,395 (GRCm39) |
D653E |
probably damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,399,548 (GRCm39) |
S926F |
possibly damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,873,492 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
A |
G |
6: 142,774,751 (GRCm39) |
L276P |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,188,156 (GRCm39) |
V396A |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,394,002 (GRCm39) |
T592A |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,002 (GRCm39) |
I236F |
possibly damaging |
Het |
| Tas2r107 |
A |
C |
6: 131,636,293 (GRCm39) |
I252S |
probably benign |
Het |
| Tmem259 |
T |
C |
10: 79,814,282 (GRCm39) |
N334S |
possibly damaging |
Het |
| Tsga10 |
A |
T |
1: 37,873,278 (GRCm39) |
N200K |
possibly damaging |
Het |
| Usp24 |
G |
A |
4: 106,236,263 (GRCm39) |
V984I |
probably benign |
Het |
| Vmn1r189 |
T |
A |
13: 22,286,382 (GRCm39) |
T152S |
probably benign |
Het |
| Vmn1r2 |
A |
T |
4: 3,172,413 (GRCm39) |
T111S |
probably damaging |
Het |
| Vmn2r74 |
T |
G |
7: 85,607,466 (GRCm39) |
N86H |
probably damaging |
Het |
| Zfp12 |
T |
C |
5: 143,226,077 (GRCm39) |
V72A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTGCCAACCTGAGTGCC -3'
(R):5'- GGAAGACGGCAGGTGCATATTC -3'
Sequencing Primer
(F):5'- CAACCTGAGTGCCGATTTTCAAGG -3'
(R):5'- GACGGCAGGTGCATATTCATCATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation