Incidental Mutation 'R6046:Glmp'
ID |
483267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glmp
|
Ensembl Gene |
ENSMUSG00000001418 |
Gene Name |
glycosylated lysosomal membrane protein |
Synonyms |
0610031J06Rik, NCU-G1 |
MMRRC Submission |
044214-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6046 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88232495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 36
(E36G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001452]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000131666]
[ENSMUST00000176425]
[ENSMUST00000176519]
[ENSMUST00000177005]
[ENSMUST00000168062]
[ENSMUST00000154381]
[ENSMUST00000164166]
|
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 |
possibly damaging
Transcript: ENSMUST00000001454
AA Change: E36G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000001454 Gene: ENSMUSG00000001418 AA Change: E36G
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 |
possibly damaging
Transcript: ENSMUST00000131666
AA Change: E36G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120235 Gene: ENSMUSG00000001418 AA Change: E36G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140039
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176425
AA Change: E36G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000135575 Gene: ENSMUSG00000001418 AA Change: E36G
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: E36G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000135263 Gene: ENSMUSG00000001418 AA Change: E36G
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: ENSMUST00000177005
AA Change: E36G
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000135398 Gene: ENSMUSG00000001418 AA Change: E36G
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: ENSMUST00000153716
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164122
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152801
|
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: 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: ENSMUST00000163735
|
SMART Domains |
Protein: ENSMUSP00000130616 Gene: ENSMUSG00000001416
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
2 |
115 |
4.7e-22 |
PFAM |
Pfam:Cpn60_TCP1
|
106 |
306 |
8.4e-64 |
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 |
0.2434 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
100% (78/78) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
T |
C |
10: 85,223,947 (GRCm39) |
V252A |
unknown |
Het |
Actn4 |
T |
C |
7: 28,604,044 (GRCm39) |
I406V |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Ank1 |
T |
A |
8: 23,606,114 (GRCm39) |
F1124I |
probably damaging |
Het |
Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
Atp9a |
C |
A |
2: 168,476,790 (GRCm39) |
V1000L |
probably benign |
Het |
Bnip3 |
A |
G |
7: 138,511,033 (GRCm39) |
|
probably benign |
Het |
Btnl6 |
T |
A |
17: 34,727,371 (GRCm39) |
R386S |
probably damaging |
Het |
Calcrl |
A |
G |
2: 84,205,658 (GRCm39) |
V11A |
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,863,571 (GRCm39) |
A597D |
possibly damaging |
Het |
Celsr3 |
A |
G |
9: 108,714,350 (GRCm39) |
T1960A |
probably benign |
Het |
Cfb |
T |
A |
17: 35,081,078 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
G |
14: 52,458,528 (GRCm39) |
I860T |
possibly damaging |
Het |
Col28a1 |
A |
G |
6: 8,168,102 (GRCm39) |
|
probably null |
Het |
Crhr2 |
T |
A |
6: 55,068,277 (GRCm39) |
T428S |
probably damaging |
Het |
Crybg2 |
A |
T |
4: 133,819,388 (GRCm39) |
I1753F |
probably damaging |
Het |
Ctsq |
A |
T |
13: 61,186,955 (GRCm39) |
V46E |
probably benign |
Het |
Cxcr1 |
T |
C |
1: 74,231,440 (GRCm39) |
E194G |
probably damaging |
Het |
Dop1a |
A |
T |
9: 86,397,396 (GRCm39) |
H900L |
probably damaging |
Het |
Dpyd |
T |
A |
3: 119,225,224 (GRCm39) |
M999K |
probably benign |
Het |
Gbp3 |
A |
C |
3: 142,273,560 (GRCm39) |
D369A |
possibly damaging |
Het |
Gm10113 |
T |
C |
13: 46,330,919 (GRCm39) |
|
noncoding transcript |
Het |
Gm6486 |
T |
A |
5: 3,120,846 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
T |
G |
1: 59,671,509 (GRCm39) |
L891R |
unknown |
Het |
Heatr3 |
C |
T |
8: 88,866,582 (GRCm39) |
T8M |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,352,831 (GRCm39) |
M2106V |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,046,509 (GRCm39) |
|
probably null |
Het |
Hspa14 |
A |
G |
2: 3,490,801 (GRCm39) |
V462A |
possibly damaging |
Het |
Hspa5 |
C |
A |
2: 34,665,761 (GRCm39) |
T535K |
possibly damaging |
Het |
Ift140 |
A |
G |
17: 25,274,563 (GRCm39) |
D745G |
probably benign |
Het |
Ift27 |
A |
T |
15: 78,057,981 (GRCm39) |
C8S |
possibly damaging |
Het |
Irak1bp1 |
G |
A |
9: 82,728,616 (GRCm39) |
W182* |
probably null |
Het |
Itga3 |
A |
G |
11: 94,953,541 (GRCm39) |
I236T |
probably benign |
Het |
Kctd15 |
T |
A |
7: 34,349,547 (GRCm39) |
N26Y |
possibly damaging |
Het |
Kdm1b |
T |
C |
13: 47,232,729 (GRCm39) |
V733A |
possibly damaging |
Het |
Lhx8 |
A |
T |
3: 154,027,340 (GRCm39) |
L234H |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,337,098 (GRCm39) |
T1225S |
probably damaging |
Het |
Lrrn1 |
G |
A |
6: 107,545,488 (GRCm39) |
D429N |
probably benign |
Het |
Mettl3 |
A |
T |
14: 52,536,243 (GRCm39) |
N200K |
possibly damaging |
Het |
Mixl1 |
G |
T |
1: 180,524,336 (GRCm39) |
A81D |
possibly damaging |
Het |
Mroh2b |
T |
C |
15: 4,980,763 (GRCm39) |
I1444T |
probably benign |
Het |
Muc15 |
T |
A |
2: 110,561,786 (GRCm39) |
L74* |
probably null |
Het |
Olfm2 |
T |
A |
9: 20,579,824 (GRCm39) |
Y317F |
probably damaging |
Het |
Or52a33 |
C |
T |
7: 103,288,886 (GRCm39) |
V154M |
probably benign |
Het |
Or5b114-ps1 |
G |
A |
19: 13,352,698 (GRCm39) |
S124N |
probably benign |
Het |
Or5p54 |
T |
A |
7: 107,554,001 (GRCm39) |
I51N |
probably benign |
Het |
Pclo |
A |
T |
5: 14,763,302 (GRCm39) |
Y3925F |
unknown |
Het |
Pik3c2g |
A |
T |
6: 139,599,137 (GRCm39) |
R84S |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,842,518 (GRCm39) |
Q449R |
probably damaging |
Het |
Psg28 |
T |
C |
7: 18,160,305 (GRCm39) |
E297G |
probably damaging |
Het |
Qrich2 |
A |
T |
11: 116,337,832 (GRCm39) |
|
probably benign |
Het |
Rgs9 |
A |
G |
11: 109,130,386 (GRCm39) |
I363T |
probably damaging |
Het |
Rnpepl1 |
A |
G |
1: 92,844,543 (GRCm39) |
D345G |
probably damaging |
Het |
Rtn4 |
T |
A |
11: 29,658,023 (GRCm39) |
F726I |
probably damaging |
Het |
Sart3 |
A |
T |
5: 113,893,507 (GRCm39) |
I330N |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,391,440 (GRCm39) |
D84G |
probably damaging |
Het |
Sema4a |
T |
C |
3: 88,348,008 (GRCm39) |
T438A |
probably damaging |
Het |
Sfxn1 |
A |
C |
13: 54,242,961 (GRCm39) |
Y73S |
probably benign |
Het |
Slc24a2 |
A |
G |
4: 86,914,882 (GRCm39) |
M585T |
probably damaging |
Het |
Slc26a7 |
A |
G |
4: 14,505,471 (GRCm39) |
V656A |
probably benign |
Het |
Smok2a |
T |
G |
17: 13,445,021 (GRCm39) |
D199E |
probably benign |
Het |
Tbc1d10c |
T |
C |
19: 4,235,030 (GRCm39) |
I344V |
probably benign |
Het |
Tll1 |
A |
T |
8: 64,506,925 (GRCm39) |
Y605* |
probably null |
Het |
Trim75 |
G |
A |
8: 65,435,535 (GRCm39) |
P305L |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,838,166 (GRCm39) |
N895S |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,799,876 (GRCm39) |
I822N |
probably damaging |
Het |
Wasf3 |
T |
G |
5: 146,407,166 (GRCm39) |
D495E |
unknown |
Het |
Wdhd1 |
T |
A |
14: 47,510,667 (GRCm39) |
K119* |
probably null |
Het |
Wnt2b |
T |
A |
3: 104,858,339 (GRCm39) |
D310V |
probably damaging |
Het |
Zfat |
G |
T |
15: 68,052,626 (GRCm39) |
D389E |
probably damaging |
Het |
Zfp282 |
G |
A |
6: 47,857,102 (GRCm39) |
V112M |
probably damaging |
Het |
Zfp617 |
A |
T |
8: 72,687,257 (GRCm39) |
K529I |
probably damaging |
Het |
Zfp866 |
A |
T |
8: 70,218,373 (GRCm39) |
C416S |
probably damaging |
Het |
Zfp991 |
G |
A |
4: 147,264,222 (GRCm39) |
G533D |
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 |
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'- TTAAGAACTTTGTTGGCCCGC -3'
(R):5'- ATCGTCAGAAAGCAGGACGC -3'
Sequencing Primer
(F):5'- TTGGCCCGCCCTCAAAAG -3'
(R):5'- ATGCCTGACCCCTCCACAATTC -3'
|
Posted On |
2017-07-14 |