Incidental Mutation 'R9266:Glmp'
| ID |
702526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glmp
|
| Ensembl Gene |
ENSMUSG00000001418 |
| Gene Name |
glycosylated lysosomal membrane protein |
| Synonyms |
0610031J06Rik, NCU-G1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88232330-88235938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88233036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 58
(I58T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000001454
AA Change: I58T
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
AA Change: I58T
| 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 damaging
Transcript: ENSMUST00000177005
AA Change: I58T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: I58T
| 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 |
probably damaging
Transcript: ENSMUST00000176519
AA Change: I58T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135263
Gene: ENSMUSG00000001418
AA Change: I58T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
53 |
125 |
4.7e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
A |
17: 36,270,178 (GRCm39) |
E627* |
probably null |
Het |
| Aoc1l2 |
A |
G |
6: 48,907,171 (GRCm39) |
N57S |
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,006,386 (GRCm39) |
V670A |
probably benign |
Het |
| Arhgef16 |
C |
A |
4: 154,375,922 (GRCm39) |
R24L |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,985,967 (GRCm39) |
D251E |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,649,271 (GRCm39) |
S447G |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,704,108 (GRCm39) |
M337V |
probably benign |
Het |
| Atp8b1 |
C |
T |
18: 64,710,528 (GRCm39) |
D170N |
possibly damaging |
Het |
| Azin2 |
C |
A |
4: 128,856,230 (GRCm39) |
|
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdh19 |
A |
G |
1: 110,817,771 (GRCm39) |
L657P |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,372,544 (GRCm39) |
V598E |
probably damaging |
Het |
| Cwc22 |
A |
G |
2: 77,754,952 (GRCm39) |
I208T |
probably benign |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,307 (GRCm39) |
D292E |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,845,990 (GRCm39) |
V1510I |
probably benign |
Het |
| Dpp3 |
G |
T |
19: 4,964,686 (GRCm39) |
Y540* |
probably null |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Elf1 |
A |
G |
14: 79,798,290 (GRCm39) |
D59G |
probably benign |
Het |
| Epc1 |
A |
T |
18: 6,449,219 (GRCm39) |
M476K |
probably benign |
Het |
| Espnl |
C |
A |
1: 91,272,771 (GRCm39) |
S710R |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,683,926 (GRCm39) |
W148R |
probably damaging |
Het |
| Fhod1 |
A |
G |
8: 106,065,531 (GRCm39) |
L88P |
unknown |
Het |
| Frmd4a |
A |
G |
2: 4,610,846 (GRCm39) |
S999G |
probably damaging |
Het |
| Gm45861 |
T |
A |
8: 28,074,674 (GRCm39) |
D1341E |
unknown |
Het |
| Gpr179 |
A |
G |
11: 97,227,766 (GRCm39) |
I1463T |
probably benign |
Het |
| Gsdmc2 |
T |
C |
15: 63,698,088 (GRCm39) |
E339G |
probably damaging |
Het |
| Insm1 |
A |
T |
2: 146,064,933 (GRCm39) |
I250F |
probably damaging |
Het |
| Insm1 |
G |
A |
2: 146,064,943 (GRCm39) |
G253D |
possibly damaging |
Het |
| Itih1 |
A |
T |
14: 30,652,222 (GRCm39) |
S824T |
probably damaging |
Het |
| Lactb |
A |
G |
9: 66,878,499 (GRCm39) |
Y190H |
possibly damaging |
Het |
| Lrba |
T |
C |
3: 86,198,774 (GRCm39) |
M197T |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,853 (GRCm39) |
I160V |
probably benign |
Het |
| Lrrc59 |
A |
T |
11: 94,532,044 (GRCm39) |
|
probably null |
Het |
| Ltk |
A |
T |
2: 119,585,121 (GRCm39) |
M425K |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,278,594 (GRCm39) |
V198A |
possibly damaging |
Het |
| Mms22l |
T |
C |
4: 24,578,878 (GRCm39) |
Y746H |
probably damaging |
Het |
| Ms4a4b |
A |
G |
19: 11,432,060 (GRCm39) |
I60M |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,480,065 (GRCm39) |
W44R |
probably benign |
Het |
| Nadsyn1 |
A |
T |
7: 143,369,348 (GRCm39) |
W128R |
probably damaging |
Het |
| Nrcam |
G |
A |
12: 44,636,917 (GRCm39) |
A1117T |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 110,050,923 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
A |
G |
3: 110,051,162 (GRCm39) |
F56L |
unknown |
Het |
| Oas2 |
A |
T |
5: 120,887,637 (GRCm39) |
Y68N |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,854 (GRCm39) |
F222I |
possibly damaging |
Het |
| Or5b101 |
A |
C |
19: 13,005,648 (GRCm39) |
L15R |
probably damaging |
Het |
| Or6c6c |
T |
C |
10: 129,541,547 (GRCm39) |
S267P |
probably benign |
Het |
| Pals2 |
T |
C |
6: 50,140,463 (GRCm39) |
M161T |
probably benign |
Het |
| Paqr8 |
C |
T |
1: 21,005,863 (GRCm39) |
T339I |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,881,814 (GRCm39) |
E525G |
probably benign |
Het |
| Psg28 |
T |
G |
7: 18,161,752 (GRCm39) |
L250F |
probably benign |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Slc16a4 |
A |
T |
3: 107,199,788 (GRCm39) |
T12S |
probably benign |
Het |
| Slc9b1 |
A |
G |
3: 135,054,468 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,598,808 (GRCm39) |
S1471P |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,678,596 (GRCm39) |
V133A |
possibly damaging |
Het |
| Snap23 |
C |
T |
2: 120,414,781 (GRCm39) |
|
probably benign |
Het |
| Spp2 |
A |
G |
1: 88,344,975 (GRCm39) |
M146V |
probably benign |
Het |
| Syf2 |
C |
A |
4: 134,663,321 (GRCm39) |
N164K |
possibly damaging |
Het |
| Sync |
T |
G |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
| Tex56 |
A |
G |
13: 35,116,569 (GRCm39) |
K106R |
possibly damaging |
Het |
| Tmigd3 |
T |
C |
3: 105,824,216 (GRCm39) |
F62L |
probably benign |
Het |
| Trpa1 |
C |
T |
1: 14,980,953 (GRCm39) |
|
probably null |
Het |
| U2surp |
A |
T |
9: 95,366,468 (GRCm39) |
I480N |
probably damaging |
Het |
| Usf3 |
C |
T |
16: 44,040,095 (GRCm39) |
T1525I |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,057 (GRCm39) |
I841M |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,738,007 (GRCm39) |
Q868L |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,385 (GRCm39) |
E309G |
possibly 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 |
|
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 |
|
R9335:Glmp
|
UTSW |
3 |
88,235,563 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTGCCCCTGATTCCAAG -3'
(R):5'- GCAGAAGAAAACTGTATGCTGC -3'
Sequencing Primer
(F):5'- CTGATTCCAAGTTCCCCTCAG -3'
(R):5'- GAAGAAAACTGTATGCTGCTCTTGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation