Incidental Mutation 'R5043:Glmp'
| ID |
393288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glmp
|
| Ensembl Gene |
ENSMUSG00000001418 |
| Gene Name |
glycosylated lysosomal membrane protein |
| Synonyms |
NCU-G1, 0610031J06Rik |
| MMRRC Submission |
042633-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5043 (G1)
|
| Quality Score |
83 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88325023-88331313 bp(+) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 88326676 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001452]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000154381]
[ENSMUST00000176425]
[ENSMUST00000164166]
[ENSMUST00000177005]
[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
|
| 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
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000164122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
| 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 |
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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 145,044,100 |
Y106* |
probably null |
Het |
| 1700061G19Rik |
A |
G |
17: 56,885,198 |
Y587C |
probably damaging |
Het |
| Akap12 |
G |
C |
10: 4,355,047 |
G619A |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,974,004 |
K32E |
probably benign |
Het |
| Capg |
T |
A |
6: 72,558,254 |
Y253* |
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,794,348 |
F189L |
probably damaging |
Het |
| Cp |
T |
C |
3: 19,973,917 |
S496P |
probably benign |
Het |
| Cxcl11 |
T |
C |
5: 92,363,152 |
|
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,527,936 |
L217P |
probably benign |
Het |
| Dip2c |
G |
T |
13: 9,551,827 |
R274L |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,884,190 |
S3776L |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,391,601 |
T94A |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,492,867 |
Y397* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,568,072 |
N79D |
probably benign |
Het |
| Gm12794 |
T |
C |
4: 101,940,524 |
F40L |
possibly damaging |
Het |
| Gm5921 |
C |
T |
9: 115,438,019 |
|
noncoding transcript |
Het |
| Gm6483 |
A |
G |
8: 19,693,670 |
T104A |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,486,718 |
M52K |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,618,277 |
|
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,220,172 |
H288L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,638,153 |
|
probably null |
Het |
| Nisch |
A |
G |
14: 31,176,465 |
|
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,066,825 |
N575S |
probably benign |
Het |
| Olfr354 |
A |
C |
2: 36,906,965 |
R6S |
probably benign |
Het |
| Olfr913 |
A |
G |
9: 38,594,841 |
I207V |
probably damaging |
Het |
| Phlda1 |
T |
A |
10: 111,507,291 |
L296Q |
unknown |
Het |
| Rab36 |
G |
A |
10: 75,051,005 |
E182K |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,570,368 |
T767M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,369,465 |
V24M |
probably damaging |
Het |
| Slc7a14 |
T |
G |
3: 31,237,466 |
N221T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,929,895 |
S331P |
possibly damaging |
Het |
| Snx1 |
C |
T |
9: 66,097,436 |
A183T |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,524,517 |
T375A |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,197,854 |
|
probably null |
Het |
| Topaz1 |
A |
T |
9: 122,748,404 |
E126D |
probably benign |
Het |
| Ugt2b1 |
C |
G |
5: 86,917,644 |
C512S |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,251,860 |
W263* |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,798,746 |
M750K |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,208,465 |
Q822L |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,700,827 |
Y1257C |
probably damaging |
Het |
|
| Other mutations in Glmp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Glmp
|
APN |
3 |
88325862 |
splice site |
probably null |
|
|
IGL02551:Glmp
|
APN |
3 |
88325082 |
start codon destroyed |
probably null |
0.53 |
|
IGL03212:Glmp
|
APN |
3 |
88328357 |
missense |
probably benign |
0.01 |
|
R0325:Glmp
|
UTSW |
3 |
88325084 |
start codon destroyed |
probably null |
0.72 |
|
R0719:Glmp
|
UTSW |
3 |
88326145 |
nonsense |
probably null |
|
|
R0721:Glmp
|
UTSW |
3 |
88326145 |
nonsense |
probably null |
|
|
R1617:Glmp
|
UTSW |
3 |
88328119 |
splice site |
probably benign |
|
|
R1970:Glmp
|
UTSW |
3 |
88327870 |
missense |
probably damaging |
1.00 |
|
R3824:Glmp
|
UTSW |
3 |
88326411 |
missense |
probably damaging |
1.00 |
|
R3825:Glmp
|
UTSW |
3 |
88326411 |
missense |
probably damaging |
1.00 |
|
R4521:Glmp
|
UTSW |
3 |
88328039 |
missense |
possibly damaging |
0.60 |
|
R4697:Glmp
|
UTSW |
3 |
88328274 |
missense |
probably damaging |
0.99 |
|
R4806:Glmp
|
UTSW |
3 |
88326013 |
intron |
probably benign |
|
|
R4823:Glmp
|
UTSW |
3 |
88325223 |
intron |
probably benign |
|
|
R5035:Glmp
|
UTSW |
3 |
88326644 |
splice site |
probably benign |
|
|
R5335:Glmp
|
UTSW |
3 |
88326655 |
intron |
probably benign |
|
|
R5592:Glmp
|
UTSW |
3 |
88326026 |
intron |
probably benign |
|
|
R5738:Glmp
|
UTSW |
3 |
88326138 |
missense |
probably benign |
0.06 |
|
R5921:Glmp
|
UTSW |
3 |
88325976 |
missense |
probably benign |
0.09 |
|
R6046:Glmp
|
UTSW |
3 |
88325188 |
missense |
probably damaging |
0.96 |
|
R6103:Glmp
|
UTSW |
3 |
88328031 |
missense |
probably benign |
0.02 |
|
R6859:Glmp
|
UTSW |
3 |
88328042 |
missense |
probably benign |
0.30 |
|
R6943:Glmp
|
UTSW |
3 |
88326610 |
missense |
probably damaging |
1.00 |
|
R6945:Glmp
|
UTSW |
3 |
88325832 |
missense |
probably benign |
0.02 |
|
R7204:Glmp
|
UTSW |
3 |
88326610 |
missense |
probably damaging |
1.00 |
|
R7770:Glmp
|
UTSW |
3 |
88325770 |
missense |
probably benign |
0.39 |
|
R8022:Glmp
|
UTSW |
3 |
88326520 |
missense |
probably damaging |
1.00 |
|
R8079:Glmp
|
UTSW |
3 |
88325738 |
missense |
probably damaging |
0.98 |
|
R8296:Glmp
|
UTSW |
3 |
88326273 |
missense |
probably benign |
0.16 |
|
R8986:Glmp
|
UTSW |
3 |
88325695 |
missense |
probably benign |
0.28 |
|
R9266:Glmp
|
UTSW |
3 |
88325729 |
missense |
probably damaging |
0.98 |
|
R9335:Glmp
|
UTSW |
3 |
88328256 |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCTCGTGGAAACCATTC -3'
(R):5'- GTGTTGTTAAATAAGAAATCCGGACC -3'
Sequencing Primer
(F):5'- AACCATTCCCTATTTGGTCTAGAGG -3'
(R):5'- ACCAGGAGGCTTACAGCTATTTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation