Incidental Mutation 'R6090:Glg1'
ID |
486146 |
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 |
044247-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.357)
|
Stock # |
R6090 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
111881053-111985848 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111907667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 510
(I510F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000168741]
[ENSMUST00000169020]
|
AlphaFold |
Q61543 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003404
AA Change: I510F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003404 Gene: ENSMUSG00000003316 AA Change: I510F
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 |
probably benign
Transcript: ENSMUST00000168741
|
SMART Domains |
Protein: ENSMUSP00000130327 Gene: ENSMUSG00000003316
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 damaging
Transcript: ENSMUST00000169020
AA Change: I521F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131355 Gene: ENSMUSG00000003316 AA Change: I521F
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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,624,972 (GRCm39) |
A450V |
probably benign |
Het |
Abca8a |
T |
C |
11: 109,954,048 (GRCm39) |
|
probably null |
Het |
Adgrl3 |
A |
T |
5: 81,660,173 (GRCm39) |
N246I |
probably damaging |
Het |
Bmal2 |
T |
A |
6: 146,731,194 (GRCm39) |
S500T |
possibly damaging |
Het |
Cdipt |
A |
T |
7: 126,576,131 (GRCm39) |
M29L |
possibly damaging |
Het |
Chml |
G |
T |
1: 175,514,624 (GRCm39) |
Y432* |
probably null |
Het |
Clasp2 |
G |
T |
9: 113,681,803 (GRCm39) |
V320L |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,599,675 (GRCm39) |
T826M |
probably damaging |
Het |
Cpsf3 |
A |
G |
12: 21,345,194 (GRCm39) |
I169V |
probably damaging |
Het |
Dhx36 |
G |
A |
3: 62,404,241 (GRCm39) |
T234M |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,571,375 (GRCm39) |
|
probably null |
Het |
Dnah1 |
A |
T |
14: 30,991,382 (GRCm39) |
I3132N |
possibly damaging |
Het |
Fbxw20 |
G |
T |
9: 109,052,431 (GRCm39) |
Q231K |
probably benign |
Het |
Gfod1 |
G |
T |
13: 43,354,437 (GRCm39) |
Y179* |
probably null |
Het |
Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gse1 |
C |
A |
8: 121,297,908 (GRCm39) |
|
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Klrd1 |
T |
C |
6: 129,572,499 (GRCm39) |
L97P |
probably damaging |
Het |
Lgmn |
A |
T |
12: 102,366,413 (GRCm39) |
M240K |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,075,880 (GRCm39) |
|
probably null |
Het |
Notch2 |
A |
T |
3: 98,042,693 (GRCm39) |
R1353* |
probably null |
Het |
Or2d2b |
A |
G |
7: 106,705,456 (GRCm39) |
V204A |
possibly damaging |
Het |
Or5t18 |
A |
C |
2: 86,636,701 (GRCm39) |
V214G |
possibly damaging |
Het |
Pcdhb14 |
G |
A |
18: 37,581,659 (GRCm39) |
S255N |
probably benign |
Het |
Pcgf2 |
C |
T |
11: 97,581,817 (GRCm39) |
M25I |
possibly damaging |
Het |
Poll |
G |
T |
19: 45,544,436 (GRCm39) |
D328E |
probably benign |
Het |
Pomgnt2 |
A |
T |
9: 121,811,863 (GRCm39) |
L306Q |
probably damaging |
Het |
Proser1 |
A |
T |
3: 53,386,088 (GRCm39) |
M657L |
probably benign |
Het |
Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
Rdh11 |
G |
T |
12: 79,235,838 (GRCm39) |
P37T |
probably benign |
Het |
Rsph10b |
A |
T |
5: 143,913,946 (GRCm39) |
I286L |
probably benign |
Het |
Septin4 |
G |
A |
11: 87,480,343 (GRCm39) |
R238K |
possibly damaging |
Het |
Sptan1 |
C |
T |
2: 29,883,899 (GRCm39) |
R580C |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,524,135 (GRCm39) |
W777R |
probably damaging |
Het |
Timd2 |
T |
C |
11: 46,578,063 (GRCm39) |
T23A |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,674,052 (GRCm39) |
Y376H |
probably damaging |
Het |
Tmem143 |
A |
G |
7: 45,558,950 (GRCm39) |
I297M |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,014,575 (GRCm39) |
T609A |
probably benign |
Het |
Tyw3 |
T |
C |
3: 154,302,704 (GRCm39) |
H10R |
probably benign |
Het |
Unc13b |
C |
A |
4: 43,239,306 (GRCm39) |
H3456Q |
probably damaging |
Het |
Zfp131 |
A |
T |
13: 120,237,532 (GRCm39) |
H275Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATGCATATGTACACACTGATAAAC -3'
(R):5'- TGCAGAGTTTGAAGTCCAAAATG -3'
Sequencing Primer
(F):5'- TACACACACCCATTCTTTTGATATTG -3'
(R):5'- GAAGTCCAAAATGGCTTTAAACTGG -3'
|
Posted On |
2017-08-16 |