Incidental Mutation 'R8986:Glmp'
| ID |
684013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glmp
|
| Ensembl Gene |
ENSMUSG00000001418 |
| Gene Name |
glycosylated lysosomal membrane protein |
| Synonyms |
0610031J06Rik, NCU-G1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8986 (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 A
at 88233002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 47
(S47T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001452]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000154381]
[ENSMUST00000177005]
[ENSMUST00000164166]
[ENSMUST00000168062]
[ENSMUST00000176425]
[ENSMUST00000176519]
|
| 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
AA Change: S47T
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
AA Change: S47T
| 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: ENSMUST00000177005
AA Change: S47T
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: S47T
| 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: 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: ENSMUST00000168971
|
| SMART Domains |
Protein: ENSMUSP00000131250
Gene: ENSMUSG00000001416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
1 |
38 |
5.6e-8 |
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 |
possibly damaging
Transcript: ENSMUST00000176519
AA Change: S47T
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135263
Gene: ENSMUSG00000001418
AA Change: S47T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
53 |
125 |
4.7e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Adamts10 |
C |
T |
17: 33,762,668 (GRCm39) |
A549V |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,259,074 (GRCm39) |
M566T |
probably benign |
Het |
| Alb |
A |
G |
5: 90,615,225 (GRCm39) |
T246A |
probably benign |
Het |
| Cyfip1 |
C |
T |
7: 55,558,140 (GRCm39) |
R806C |
probably damaging |
Het |
| Cyp11a1 |
T |
A |
9: 57,925,644 (GRCm39) |
I195N |
probably damaging |
Het |
| Dclre1a |
C |
G |
19: 56,526,826 (GRCm39) |
Q863H |
|
Het |
| Ddx19a |
A |
G |
8: 111,705,188 (GRCm39) |
V311A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,057,330 (GRCm39) |
F1557I |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,755,181 (GRCm39) |
T865S |
possibly damaging |
Het |
| Esrrg |
T |
A |
1: 187,943,104 (GRCm39) |
I382K |
possibly damaging |
Het |
| Fam149a |
G |
A |
8: 45,811,837 (GRCm39) |
T22M |
|
Het |
| Fam227b |
A |
T |
2: 125,958,019 (GRCm39) |
Y249N |
probably damaging |
Het |
| Fanci |
G |
A |
7: 79,095,472 (GRCm39) |
V1217I |
probably benign |
Het |
| Fermt2 |
A |
G |
14: 45,742,023 (GRCm39) |
Y108H |
probably benign |
Het |
| Gkn1 |
A |
T |
6: 87,325,160 (GRCm39) |
V83E |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,734,457 (GRCm39) |
H1511R |
probably damaging |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Htra3 |
A |
T |
5: 35,836,372 (GRCm39) |
C107S |
probably damaging |
Het |
| Ighv1-58 |
T |
C |
12: 115,275,835 (GRCm39) |
Q101R |
probably benign |
Het |
| Ighv6-5 |
A |
T |
12: 114,380,382 (GRCm39) |
L45* |
probably null |
Het |
| Igtp |
T |
A |
11: 58,096,947 (GRCm39) |
|
probably null |
Het |
| Il1rap |
T |
C |
16: 26,533,696 (GRCm39) |
S531P |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,367,039 (GRCm39) |
H303L |
probably damaging |
Het |
| Kcnj3 |
G |
T |
2: 55,485,039 (GRCm39) |
S379I |
probably benign |
Het |
| Lrrc36 |
T |
C |
8: 106,176,093 (GRCm39) |
S156P |
possibly damaging |
Het |
| Mical3 |
G |
T |
6: 120,991,822 (GRCm39) |
D250E |
|
Het |
| Msh3 |
T |
C |
13: 92,483,334 (GRCm39) |
T270A |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,658,746 (GRCm39) |
W404R |
probably damaging |
Het |
| Nol7 |
T |
C |
13: 43,554,985 (GRCm39) |
F206S |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,745,418 (GRCm39) |
H86R |
probably damaging |
Het |
| Or12e13 |
A |
T |
2: 87,663,655 (GRCm39) |
I91F |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,473,050 (GRCm39) |
I134T |
probably benign |
Het |
| Paox |
A |
G |
7: 139,706,503 (GRCm39) |
E141G |
probably benign |
Het |
| Plod1 |
A |
T |
4: 147,997,734 (GRCm39) |
H658Q |
probably damaging |
Het |
| Pou4f1 |
T |
C |
14: 104,704,087 (GRCm39) |
D115G |
probably damaging |
Het |
| Ppp1r26 |
G |
T |
2: 28,342,802 (GRCm39) |
E811* |
probably null |
Het |
| Qsox1 |
C |
T |
1: 155,666,829 (GRCm39) |
R220K |
probably damaging |
Het |
| Rabgap1l |
C |
T |
1: 160,085,105 (GRCm39) |
V781I |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,541,354 (GRCm39) |
D1294G |
possibly damaging |
Het |
| Rbp7 |
C |
T |
4: 149,537,371 (GRCm39) |
V97I |
probably benign |
Het |
| Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,150 (GRCm39) |
V183A |
probably benign |
Het |
| Slfn2 |
C |
G |
11: 82,960,427 (GRCm39) |
I135M |
possibly damaging |
Het |
| Sntg1 |
T |
A |
1: 8,484,491 (GRCm39) |
D443V |
possibly damaging |
Het |
| Tas2r105 |
G |
A |
6: 131,663,913 (GRCm39) |
Q172* |
probably null |
Het |
| Tfdp2 |
A |
G |
9: 96,172,637 (GRCm39) |
R44G |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,480 (GRCm39) |
C463S |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,897,646 (GRCm39) |
V807A |
possibly damaging |
Het |
| Trim68 |
T |
A |
7: 102,327,808 (GRCm39) |
K382* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,823 (GRCm39) |
I251F |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,915,325 (GRCm39) |
R91* |
probably null |
Het |
| Vmn2r-ps117 |
G |
A |
17: 19,044,943 (GRCm39) |
W453* |
probably null |
Het |
| Zc3h18 |
T |
C |
8: 123,134,193 (GRCm39) |
V553A |
unknown |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp791 |
A |
G |
8: 85,837,327 (GRCm39) |
F179S |
probably benign |
Het |
| Zyg11a |
A |
T |
4: 108,041,628 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TACATCTGCCCCTGATTCCAAG -3'
(R):5'- AGAAAACTGTATGCTGCTCTTGG -3'
Sequencing Primer
(F):5'- CTGATTCCAAGTTCCCCTCAG -3'
(R):5'- TCTTGGGGAGCACCATCAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation