Incidental Mutation 'R6480:Glg1'
| ID |
517042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glg1
|
| Ensembl Gene |
ENSMUSG00000003316 |
| Gene Name |
golgi apparatus protein 1 |
| Synonyms |
MG160, CFR-1, MG-160, Selel, ESL-1, CFR |
| MMRRC Submission |
044612-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R6480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111881053-111985848 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111924338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 217
(T217A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000169020]
|
| AlphaFold |
Q61543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003404
AA Change: T206A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: T206A
| 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 |
noncoding transcript
Transcript: ENSMUST00000102427
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164283
AA Change: T217A
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: T217A
| 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: ENSMUST00000169020
AA Change: T217A
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: T217A
| 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 |
|
| Meta Mutation Damage Score |
0.0659 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (57/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl8b |
T |
A |
6: 108,792,010 (GRCm39) |
N90K |
possibly damaging |
Het |
| Art3 |
T |
C |
5: 92,540,676 (GRCm39) |
F140L |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,587,049 (GRCm39) |
M967K |
probably damaging |
Het |
| Ccne1 |
G |
A |
7: 37,806,279 (GRCm39) |
|
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,373,464 (GRCm39) |
|
probably null |
Het |
| Ceacam2 |
T |
A |
7: 25,219,414 (GRCm39) |
E282V |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,161,373 (GRCm39) |
C86* |
probably null |
Het |
| Cul2 |
A |
C |
18: 3,417,561 (GRCm39) |
K115T |
possibly damaging |
Het |
| Dhx29 |
A |
T |
13: 113,090,322 (GRCm39) |
K800* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,976,758 (GRCm39) |
F1741S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,594,412 (GRCm39) |
T3455A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drd4 |
A |
T |
7: 140,874,706 (GRCm39) |
I366F |
possibly damaging |
Het |
| Fam169b |
T |
A |
7: 68,003,466 (GRCm39) |
Y273* |
probably null |
Het |
| Fbn1 |
T |
A |
2: 125,177,338 (GRCm39) |
Y1833F |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gjb6 |
T |
C |
14: 57,361,899 (GRCm39) |
I121V |
probably benign |
Het |
| Igkv5-48 |
A |
G |
6: 69,703,810 (GRCm39) |
S32P |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,747,771 (GRCm39) |
F1062L |
probably benign |
Het |
| Lct |
G |
A |
1: 128,222,057 (GRCm39) |
T1494I |
probably damaging |
Het |
| Lilra6 |
G |
A |
7: 3,915,932 (GRCm39) |
T309I |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,011,236 (GRCm39) |
T321A |
possibly damaging |
Het |
| Mmp23 |
T |
A |
4: 155,736,798 (GRCm39) |
N104I |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,171,238 (GRCm39) |
Y131C |
|
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Ndufs2 |
A |
G |
1: 171,064,267 (GRCm39) |
S348P |
probably damaging |
Het |
| Nepro |
T |
C |
16: 44,547,438 (GRCm39) |
S52P |
probably damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,507,356 (GRCm39) |
E874G |
possibly damaging |
Het |
| Nsmce1 |
A |
G |
7: 125,090,590 (GRCm39) |
V9A |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,007 (GRCm39) |
F62L |
probably benign |
Het |
| Or2a7 |
T |
C |
6: 43,151,000 (GRCm39) |
F27L |
probably benign |
Het |
| Or5b105 |
T |
A |
19: 13,079,838 (GRCm39) |
T277S |
probably benign |
Het |
| Or6c3 |
A |
T |
10: 129,308,590 (GRCm39) |
I10F |
possibly damaging |
Het |
| Per2 |
A |
T |
1: 91,357,104 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
T |
C |
13: 21,607,646 (GRCm39) |
I183V |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,676,195 (GRCm39) |
V113A |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,773,474 (GRCm39) |
L259P |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,365,019 (GRCm39) |
Q1124* |
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,965,757 (GRCm39) |
S492P |
possibly damaging |
Het |
| Rcor2 |
T |
G |
19: 7,248,411 (GRCm39) |
M142R |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,950,101 (GRCm39) |
E115G |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,818 (GRCm39) |
Y475C |
probably damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,202,297 (GRCm39) |
I611N |
possibly damaging |
Het |
| Slc25a24 |
G |
T |
3: 109,043,617 (GRCm39) |
M91I |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,922,786 (GRCm39) |
S888G |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,014,714 (GRCm39) |
|
probably null |
Het |
| Stk35 |
C |
A |
2: 129,652,607 (GRCm39) |
D369E |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,637,986 (GRCm39) |
S889P |
probably damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,798,050 (GRCm39) |
N697S |
probably damaging |
Het |
| Tcof1 |
A |
T |
18: 60,947,852 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,543,160 (GRCm39) |
Y25N |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,949,598 (GRCm39) |
C563R |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,512 (GRCm39) |
S833G |
possibly damaging |
Het |
| Uggt2 |
T |
A |
14: 119,294,976 (GRCm39) |
H550L |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,591,048 (GRCm39) |
|
probably null |
Het |
| Wbp1l |
T |
A |
19: 46,642,758 (GRCm39) |
L253Q |
probably damaging |
Het |
| Zfp433 |
T |
A |
10: 81,556,078 (GRCm39) |
S161R |
possibly damaging |
Het |
| Zfp865 |
A |
G |
7: 5,032,782 (GRCm39) |
T256A |
probably damaging |
Het |
| Zpr1 |
A |
G |
9: 46,186,009 (GRCm39) |
D160G |
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 |
|
IGL02651:Glg1
|
APN |
8 |
111,887,359 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTAGTTTTCTCTGATGTGAG -3'
(R):5'- ACTGTCGTTCCTTAAAACCAGTG -3'
Sequencing Primer
(F):5'- GCTGCCACATTTCAAGAG -3'
(R):5'- AGATCTCTGAGTTGACAGCTAGCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation