Incidental Mutation 'R7509:Glg1'
| ID |
581959 |
| 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 |
045582-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
R7509 (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 G
at 111985675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 52
(S52R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000169020]
|
| AlphaFold |
Q61543 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003404
AA Change: S52R
|
| SMART Domains |
Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: S52R
| 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 |
unknown
Transcript: ENSMUST00000164283
AA Change: S52R
|
| SMART Domains |
Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: S52R
| 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 |
probably benign
Transcript: ENSMUST00000169020
AA Change: S52R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: S52R
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
A |
G |
7: 119,133,611 (GRCm39) |
S259G |
probably benign |
Het |
| Adamts16 |
G |
T |
13: 70,935,283 (GRCm39) |
N436K |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 30,948,507 (GRCm39) |
M61K |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,905,078 (GRCm39) |
T163A |
possibly damaging |
Het |
| Ccser2 |
A |
G |
14: 36,660,602 (GRCm39) |
L517P |
probably damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,195 (GRCm39) |
T158A |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,855,074 (GRCm39) |
I778N |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,056,097 (GRCm39) |
V336A |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,688,702 (GRCm39) |
V857I |
probably benign |
Het |
| Cpm |
A |
G |
10: 117,495,745 (GRCm39) |
Y78C |
probably damaging |
Het |
| Cst7 |
A |
T |
2: 150,419,624 (GRCm39) |
T97S |
probably benign |
Het |
| Cttnbp2nl |
T |
C |
3: 104,940,046 (GRCm39) |
K8E |
possibly damaging |
Het |
| Erbb4 |
A |
T |
1: 68,289,739 (GRCm39) |
D767E |
possibly damaging |
Het |
| Esyt2 |
T |
C |
12: 116,329,496 (GRCm39) |
S685P |
probably damaging |
Het |
| Fam110d |
A |
C |
4: 133,979,424 (GRCm39) |
V18G |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,930,256 (GRCm39) |
L641P |
probably damaging |
Het |
| Gcnt4 |
T |
A |
13: 97,083,678 (GRCm39) |
F325I |
probably benign |
Het |
| Gm10577 |
G |
A |
4: 100,877,848 (GRCm39) |
L16F |
unknown |
Het |
| Gm14326 |
C |
T |
2: 177,587,493 (GRCm39) |
G501D |
probably benign |
Het |
| Gm1587 |
G |
A |
14: 78,034,464 (GRCm39) |
P35S |
unknown |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,925,719 (GRCm39) |
H886L |
probably damaging |
Het |
| Hgsnat |
A |
G |
8: 26,445,754 (GRCm39) |
V380A |
probably damaging |
Het |
| Hmbs |
T |
A |
9: 44,248,208 (GRCm39) |
R125S |
|
Het |
| Hsd17b4 |
A |
T |
18: 50,297,749 (GRCm39) |
Y346F |
probably damaging |
Het |
| Inpp4a |
T |
C |
1: 37,426,911 (GRCm39) |
L624P |
probably damaging |
Het |
| Irak2 |
AC |
ACC |
6: 113,667,859 (GRCm39) |
|
probably null |
Het |
| Itga11 |
C |
T |
9: 62,689,222 (GRCm39) |
T1129I |
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,617,404 (GRCm39) |
V575I |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,816,187 (GRCm39) |
T473A |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,032,360 (GRCm39) |
V31A |
probably damaging |
Het |
| Lrch1 |
G |
A |
14: 75,185,048 (GRCm39) |
T18I |
probably benign |
Het |
| Ly6e |
T |
C |
15: 74,830,135 (GRCm39) |
F30L |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,886,995 (GRCm39) |
D1632G |
probably damaging |
Het |
| Mei4 |
T |
A |
9: 81,907,630 (GRCm39) |
L320Q |
probably damaging |
Het |
| Mlip |
T |
G |
9: 77,088,678 (GRCm39) |
T197P |
probably damaging |
Het |
| Mon2 |
G |
A |
10: 122,868,457 (GRCm39) |
A532V |
probably benign |
Het |
| Myh1 |
C |
T |
11: 67,101,287 (GRCm39) |
P688S |
probably benign |
Het |
| Ncapg |
G |
A |
5: 45,853,450 (GRCm39) |
D900N |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,546,430 (GRCm39) |
N361S |
probably benign |
Het |
| Nudt16l1 |
T |
A |
16: 4,757,082 (GRCm39) |
H26Q |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,455 (GRCm39) |
T4348I |
probably benign |
Het |
| Or10d4b |
T |
A |
9: 39,534,623 (GRCm39) |
I66N |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,260,868 (GRCm39) |
M157K |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
| Pcdhb7 |
C |
A |
18: 37,475,074 (GRCm39) |
T70K |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,910 (GRCm39) |
Y454* |
probably null |
Het |
| Pigc |
A |
T |
1: 161,798,545 (GRCm39) |
T176S |
probably benign |
Het |
| Pola2 |
A |
T |
19: 6,011,194 (GRCm39) |
S43R |
probably benign |
Het |
| Pole |
A |
T |
5: 110,478,571 (GRCm39) |
|
probably benign |
Het |
| Polq |
C |
A |
16: 36,880,705 (GRCm39) |
D956E |
probably benign |
Het |
| Polq |
T |
A |
16: 36,880,706 (GRCm39) |
C957S |
probably benign |
Het |
| Ppp3cc |
G |
A |
14: 70,504,131 (GRCm39) |
T107I |
probably damaging |
Het |
| Prss39 |
C |
A |
1: 34,539,280 (GRCm39) |
H173Q |
possibly damaging |
Het |
| Reep4 |
A |
G |
14: 70,785,928 (GRCm39) |
D256G |
probably benign |
Het |
| Rfc3 |
A |
G |
5: 151,570,975 (GRCm39) |
V107A |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,003,981 (GRCm39) |
L40P |
probably damaging |
Het |
| Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
| Strada |
C |
A |
11: 106,077,920 (GRCm39) |
V15F |
unknown |
Het |
| Suco |
A |
T |
1: 161,672,903 (GRCm39) |
S440T |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,090,683 (GRCm39) |
C1595S |
probably benign |
Het |
| Synpo |
G |
T |
18: 60,736,566 (GRCm39) |
T460K |
probably damaging |
Het |
| Tagap |
A |
T |
17: 8,147,568 (GRCm39) |
I93F |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,301,956 (GRCm39) |
F331Y |
probably damaging |
Het |
| Tnpo1 |
A |
C |
13: 99,006,751 (GRCm39) |
I225M |
probably benign |
Het |
| Tollip |
A |
T |
7: 141,445,878 (GRCm39) |
M70K |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,691,842 (GRCm39) |
I171N |
probably damaging |
Het |
| Ttc41 |
G |
T |
10: 86,549,296 (GRCm39) |
E163D |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,695 (GRCm39) |
T189S |
probably benign |
Het |
| Vmn2r20 |
C |
T |
6: 123,362,382 (GRCm39) |
V801I |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,231,842 (GRCm39) |
V614I |
possibly damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,802,995 (GRCm39) |
E302K |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,619,132 (GRCm39) |
F1270S |
|
Het |
| Wdr3 |
A |
T |
3: 100,058,503 (GRCm39) |
F367L |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,688,088 (GRCm39) |
S1005G |
probably damaging |
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 |
|
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 |
|
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'- AGGTCCTGATCCCAGAACAC -3'
(R):5'- TTTAAATACACGTCGCCGGC -3'
Sequencing Primer
(F):5'- TGTTTGGGGCACACACG -3'
(R):5'- AACCCAAGATGGCGGTGTGT -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation