Incidental Mutation 'IGL02651:Glg1'
ID |
302153 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Glg1
|
Ensembl Gene |
ENSMUSG00000003316 |
Gene Name |
golgi apparatus protein 1 |
Synonyms |
MG160, CFR-1, MG-160, Selel, ESL-1, CFR |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
IGL02651
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
111881053-111985848 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 111887359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 465
(M465I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000168741]
[ENSMUST00000169020]
|
AlphaFold |
Q61543 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003404
AA Change: M1038I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000003404 Gene: ENSMUSG00000003316 AA Change: M1038I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Cys_rich_FGFR
|
141 |
197 |
3.1e-13 |
PFAM |
Pfam:Cys_rich_FGFR
|
199 |
263 |
1.3e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
274 |
331 |
1.5e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
334 |
398 |
1.6e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
402 |
458 |
1.8e-15 |
PFAM |
Pfam:Cys_rich_FGFR
|
463 |
522 |
2.3e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
525 |
589 |
5.8e-19 |
PFAM |
Pfam:Cys_rich_FGFR
|
597 |
653 |
6e-17 |
PFAM |
Pfam:Cys_rich_FGFR
|
654 |
714 |
2e-14 |
PFAM |
Pfam:Cys_rich_FGFR
|
717 |
773 |
4.7e-14 |
PFAM |
Pfam:Cys_rich_FGFR
|
784 |
841 |
1e-18 |
PFAM |
Pfam:Cys_rich_FGFR
|
842 |
897 |
4.2e-17 |
PFAM |
Pfam:Cys_rich_FGFR
|
900 |
964 |
2.1e-21 |
PFAM |
Pfam:Cys_rich_FGFR
|
967 |
1027 |
3.5e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
1029 |
1086 |
8e-17 |
PFAM |
transmembrane domain
|
1131 |
1153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164283
|
SMART Domains |
Protein: ENSMUSP00000131659 Gene: ENSMUSG00000003316
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Cys_rich_FGFR
|
149 |
208 |
2.3e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
210 |
267 |
1.3e-12 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168741
AA Change: M465I
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130327 Gene: ENSMUSG00000003316 AA Change: M465I
Domain | Start | End | E-Value | Type |
Pfam:Cys_rich_FGFR
|
1 |
57 |
2.6e-17 |
PFAM |
Pfam:Cys_rich_FGFR
|
58 |
118 |
8.5e-15 |
PFAM |
Pfam:Cys_rich_FGFR
|
121 |
177 |
2e-14 |
PFAM |
Pfam:Cys_rich_FGFR
|
188 |
245 |
4.3e-19 |
PFAM |
Pfam:Cys_rich_FGFR
|
246 |
301 |
1.8e-17 |
PFAM |
Pfam:Cys_rich_FGFR
|
304 |
368 |
8.9e-22 |
PFAM |
Pfam:Cys_rich_FGFR
|
371 |
431 |
1.5e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
459 |
513 |
1.6e-15 |
PFAM |
transmembrane domain
|
558 |
580 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169020
AA Change: M1049I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000131355 Gene: ENSMUSG00000003316 AA Change: M1049I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Cys_rich_FGFR
|
149 |
208 |
2.9e-15 |
PFAM |
Pfam:Cys_rich_FGFR
|
210 |
274 |
1.3e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
285 |
342 |
1.4e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
345 |
409 |
7.2e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
413 |
469 |
8.4e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
474 |
533 |
6.4e-17 |
PFAM |
Pfam:Cys_rich_FGFR
|
536 |
600 |
2.7e-16 |
PFAM |
Pfam:Cys_rich_FGFR
|
608 |
664 |
2.6e-17 |
PFAM |
Pfam:Cys_rich_FGFR
|
665 |
725 |
1.2e-13 |
PFAM |
Pfam:Cys_rich_FGFR
|
728 |
784 |
2.6e-11 |
PFAM |
Pfam:Cys_rich_FGFR
|
795 |
852 |
1.4e-18 |
PFAM |
Pfam:Cys_rich_FGFR
|
853 |
908 |
1.1e-15 |
PFAM |
Pfam:Cys_rich_FGFR
|
911 |
975 |
1e-19 |
PFAM |
Pfam:Cys_rich_FGFR
|
978 |
1038 |
1.3e-15 |
PFAM |
Pfam:Cys_rich_FGFR
|
1040 |
1097 |
6e-17 |
PFAM |
transmembrane domain
|
1142 |
1164 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Nullizygous mice show smaller size, narrow rib cages, short and thin bony elements, and reduced chondrocyte proliferation and growth plates. Homozygotes for a gene trap allele show postnatal death, small size, distorted tails and cleft palate. Homozygotes for another gene trap allele die by E10.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
A |
19: 31,909,906 (GRCm39) |
G233S |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,283,990 (GRCm39) |
C1202S |
probably benign |
Het |
Acaca |
C |
T |
11: 84,136,030 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,613,529 (GRCm39) |
F676Y |
probably damaging |
Het |
Arhgef11 |
C |
A |
3: 87,606,171 (GRCm39) |
Q309K |
probably damaging |
Het |
Asgr1 |
T |
C |
11: 69,947,956 (GRCm39) |
Y80H |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,152,909 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atp8b2 |
A |
C |
3: 89,861,896 (GRCm39) |
|
probably null |
Het |
Btnl2 |
A |
G |
17: 34,575,196 (GRCm39) |
M1V |
probably null |
Het |
Cpsf3 |
T |
A |
12: 21,343,298 (GRCm39) |
M121K |
probably damaging |
Het |
Creb3l3 |
A |
G |
10: 80,920,668 (GRCm39) |
I454T |
probably benign |
Het |
Cyp2d12 |
A |
G |
15: 82,440,941 (GRCm39) |
E153G |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,350,768 (GRCm39) |
I2597V |
probably benign |
Het |
Ercc5 |
C |
A |
1: 44,196,104 (GRCm39) |
S32R |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,926,807 (GRCm39) |
N656K |
possibly damaging |
Het |
Fga |
G |
A |
3: 82,935,841 (GRCm39) |
E23K |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,636,835 (GRCm39) |
T1925A |
possibly damaging |
Het |
Fstl5 |
A |
T |
3: 76,500,841 (GRCm39) |
E423D |
probably damaging |
Het |
H2-M10.4 |
C |
A |
17: 36,771,548 (GRCm39) |
R210L |
probably benign |
Het |
Hbb-y |
T |
G |
7: 103,501,957 (GRCm39) |
K105Q |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,284,756 (GRCm39) |
|
probably benign |
Het |
Ipo11 |
T |
C |
13: 107,012,114 (GRCm39) |
Y556C |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,325,372 (GRCm39) |
M1322V |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,828,631 (GRCm39) |
L425P |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Ms4a6c |
A |
T |
19: 11,455,669 (GRCm39) |
E159D |
possibly damaging |
Het |
Msh6 |
A |
T |
17: 88,296,943 (GRCm39) |
L1213F |
probably damaging |
Het |
Npy1r |
A |
C |
8: 67,157,675 (GRCm39) |
R328S |
possibly damaging |
Het |
Or4a74 |
A |
T |
2: 89,439,842 (GRCm39) |
N201K |
possibly damaging |
Het |
Or5ak20 |
A |
C |
2: 85,183,394 (GRCm39) |
L292R |
probably damaging |
Het |
Pcdhb18 |
T |
G |
18: 37,624,234 (GRCm39) |
Y521* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,347,210 (GRCm39) |
Y192F |
probably damaging |
Het |
Rdh12 |
T |
A |
12: 79,268,826 (GRCm39) |
I301N |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,783,438 (GRCm39) |
V1144A |
possibly damaging |
Het |
Sap25 |
T |
C |
5: 137,640,632 (GRCm39) |
F171L |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,808,897 (GRCm39) |
L92P |
probably benign |
Het |
Sfmbt1 |
T |
C |
14: 30,537,494 (GRCm39) |
S736P |
probably damaging |
Het |
Tacr1 |
T |
C |
6: 82,469,622 (GRCm39) |
S169P |
probably damaging |
Het |
Tbc1d21 |
A |
T |
9: 58,270,384 (GRCm39) |
Y130* |
probably null |
Het |
Tle2 |
G |
A |
10: 81,422,723 (GRCm39) |
G428D |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,442 (GRCm39) |
N367K |
probably damaging |
Het |
Tmem210 |
A |
G |
2: 25,179,101 (GRCm39) |
T130A |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,680,368 (GRCm39) |
|
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,127,678 (GRCm39) |
L122P |
probably damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,845,010 (GRCm39) |
F791S |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,891,129 (GRCm39) |
N575K |
probably benign |
Het |
Vps8 |
T |
C |
16: 21,336,086 (GRCm39) |
V746A |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,044,341 (GRCm39) |
M1888K |
probably benign |
Het |
Zfp595 |
T |
C |
13: 67,469,017 (GRCm39) |
D3G |
probably benign |
Het |
|
Other mutations in Glg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00226:Glg1
|
APN |
8 |
111,886,481 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01326:Glg1
|
APN |
8 |
111,909,205 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01558:Glg1
|
APN |
8 |
111,914,362 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01798:Glg1
|
APN |
8 |
111,919,332 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL03124:Glg1
|
APN |
8 |
111,926,803 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03374:Glg1
|
APN |
8 |
111,889,412 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03404:Glg1
|
APN |
8 |
111,886,534 (GRCm39) |
missense |
probably damaging |
1.00 |
diabolical
|
UTSW |
8 |
111,895,375 (GRCm39) |
missense |
probably damaging |
1.00 |
BB007:Glg1
|
UTSW |
8 |
111,887,367 (GRCm39) |
missense |
possibly damaging |
0.46 |
BB017:Glg1
|
UTSW |
8 |
111,887,367 (GRCm39) |
missense |
possibly damaging |
0.46 |
PIT4362001:Glg1
|
UTSW |
8 |
111,985,431 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0047:Glg1
|
UTSW |
8 |
111,892,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Glg1
|
UTSW |
8 |
111,892,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R0255:Glg1
|
UTSW |
8 |
111,886,490 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0432:Glg1
|
UTSW |
8 |
111,909,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R0458:Glg1
|
UTSW |
8 |
111,887,238 (GRCm39) |
splice site |
probably benign |
|
R0635:Glg1
|
UTSW |
8 |
111,890,396 (GRCm39) |
splice site |
probably benign |
|
R0765:Glg1
|
UTSW |
8 |
111,886,429 (GRCm39) |
critical splice donor site |
probably null |
|
R1104:Glg1
|
UTSW |
8 |
111,924,235 (GRCm39) |
missense |
probably benign |
0.01 |
R1495:Glg1
|
UTSW |
8 |
111,924,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R1747:Glg1
|
UTSW |
8 |
111,924,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Glg1
|
UTSW |
8 |
111,892,306 (GRCm39) |
missense |
probably benign |
0.23 |
R1950:Glg1
|
UTSW |
8 |
111,892,271 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2074:Glg1
|
UTSW |
8 |
111,895,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Glg1
|
UTSW |
8 |
111,919,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R2275:Glg1
|
UTSW |
8 |
111,895,353 (GRCm39) |
nonsense |
probably null |
|
R2342:Glg1
|
UTSW |
8 |
111,914,439 (GRCm39) |
nonsense |
probably null |
|
R4633:Glg1
|
UTSW |
8 |
111,904,276 (GRCm39) |
critical splice donor site |
probably null |
|
R4716:Glg1
|
UTSW |
8 |
111,887,407 (GRCm39) |
nonsense |
probably null |
|
R4732:Glg1
|
UTSW |
8 |
111,914,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Glg1
|
UTSW |
8 |
111,914,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R5594:Glg1
|
UTSW |
8 |
111,914,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R5722:Glg1
|
UTSW |
8 |
111,896,194 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5951:Glg1
|
UTSW |
8 |
111,892,323 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5958:Glg1
|
UTSW |
8 |
111,985,736 (GRCm39) |
missense |
probably benign |
0.01 |
R6090:Glg1
|
UTSW |
8 |
111,907,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Glg1
|
UTSW |
8 |
111,926,806 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6480:Glg1
|
UTSW |
8 |
111,924,338 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6819:Glg1
|
UTSW |
8 |
111,914,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R7116:Glg1
|
UTSW |
8 |
111,905,589 (GRCm39) |
missense |
probably benign |
0.22 |
R7293:Glg1
|
UTSW |
8 |
111,895,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R7431:Glg1
|
UTSW |
8 |
111,887,386 (GRCm39) |
missense |
unknown |
|
R7479:Glg1
|
UTSW |
8 |
111,924,367 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7509:Glg1
|
UTSW |
8 |
111,985,675 (GRCm39) |
missense |
probably benign |
0.04 |
R7547:Glg1
|
UTSW |
8 |
111,914,393 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7678:Glg1
|
UTSW |
8 |
111,905,497 (GRCm39) |
missense |
probably benign |
0.19 |
R7930:Glg1
|
UTSW |
8 |
111,887,367 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8182:Glg1
|
UTSW |
8 |
111,897,929 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8383:Glg1
|
UTSW |
8 |
111,896,194 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8787:Glg1
|
UTSW |
8 |
111,888,114 (GRCm39) |
missense |
probably damaging |
0.99 |
R8905:Glg1
|
UTSW |
8 |
111,884,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R8954:Glg1
|
UTSW |
8 |
111,914,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R8958:Glg1
|
UTSW |
8 |
111,899,116 (GRCm39) |
nonsense |
probably null |
|
R9023:Glg1
|
UTSW |
8 |
111,904,380 (GRCm39) |
missense |
probably damaging |
0.99 |
R9113:Glg1
|
UTSW |
8 |
111,887,452 (GRCm39) |
intron |
probably benign |
|
R9359:Glg1
|
UTSW |
8 |
111,914,425 (GRCm39) |
missense |
probably benign |
0.08 |
R9403:Glg1
|
UTSW |
8 |
111,914,425 (GRCm39) |
missense |
probably benign |
0.08 |
R9553:Glg1
|
UTSW |
8 |
111,926,770 (GRCm39) |
missense |
probably benign |
0.04 |
R9622:Glg1
|
UTSW |
8 |
111,899,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R9714:Glg1
|
UTSW |
8 |
111,924,301 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Glg1
|
UTSW |
8 |
111,896,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |