Incidental Mutation 'R0047:Glg1'
| ID |
16003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glg1
|
| Ensembl Gene |
ENSMUSG00000003316 |
| Gene Name |
golgi apparatus protein 1 |
| Synonyms |
Selel, CFR, MG-160, CFR-1, ESL-1, MG160 |
| MMRRC Submission |
038341-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R0047 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111154421-111259216 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111165582 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 866
(M866K)
|
| 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: M866K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: M866K
| 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
AA Change: M270K
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130327
Gene: ENSMUSG00000003316
AA Change: M270K
| 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 |
possibly damaging
Transcript: ENSMUST00000169020
AA Change: M877K
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: M877K
| 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 |
0.6578 |
| Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.8%
- 20x: 65.9%
|
| Validation Efficiency |
95% (110/116) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 138,066,264 (GRCm38) |
T405A |
probably damaging |
Het |
| 4932438A13Rik |
T |
A |
3: 36,908,192 (GRCm38) |
L481M |
possibly damaging |
Het |
| Acer1 |
A |
T |
17: 56,955,624 (GRCm38) |
D175E |
possibly damaging |
Het |
| Adamts9 |
G |
A |
6: 92,905,306 (GRCm38) |
|
probably benign |
Het |
| Amigo3 |
T |
C |
9: 108,054,658 (GRCm38) |
S427P |
probably benign |
Het |
| Arid4a |
T |
G |
12: 71,075,419 (GRCm38) |
L858W |
probably damaging |
Het |
| Bbox1 |
A |
G |
2: 110,268,302 (GRCm38) |
F310S |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,406,686 (GRCm38) |
C534S |
probably damaging |
Het |
| Cacna1d |
T |
G |
14: 30,346,790 (GRCm38) |
|
probably benign |
Het |
| Capn12 |
G |
A |
7: 28,890,387 (GRCm38) |
|
probably null |
Het |
| Chchd1 |
T |
C |
14: 20,704,163 (GRCm38) |
S48P |
possibly damaging |
Het |
| Cnot7 |
A |
G |
8: 40,495,921 (GRCm38) |
|
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,363,253 (GRCm38) |
|
probably benign |
Het |
| Cyp2b19 |
T |
A |
7: 26,766,826 (GRCm38) |
D351E |
probably benign |
Het |
| Dctn1 |
G |
T |
6: 83,182,632 (GRCm38) |
G31* |
probably null |
Het |
| Duox1 |
T |
A |
2: 122,346,641 (GRCm38) |
|
probably benign |
Het |
| Egflam |
T |
G |
15: 7,253,430 (GRCm38) |
E382A |
possibly damaging |
Het |
| Ext1 |
T |
C |
15: 53,345,146 (GRCm38) |
N73S |
probably benign |
Het |
| Gm3333 |
A |
G |
13: 62,274,471 (GRCm38) |
|
noncoding transcript |
Het |
| Golm1 |
T |
A |
13: 59,645,100 (GRCm38) |
H197L |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,862,378 (GRCm38) |
K132E |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,733,378 (GRCm38) |
|
probably benign |
Het |
| Hrc |
T |
A |
7: 45,336,689 (GRCm38) |
S421R |
probably benign |
Het |
| Ighg2c |
T |
A |
12: 113,288,168 (GRCm38) |
|
probably benign |
Het |
| Ihh |
A |
G |
1: 74,946,591 (GRCm38) |
I245T |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,388,714 (GRCm38) |
M65K |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,485,038 (GRCm38) |
I33V |
probably benign |
Het |
| Lama1 |
A |
T |
17: 67,795,186 (GRCm38) |
|
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,278,601 (GRCm38) |
I188T |
possibly damaging |
Het |
| Lpp |
T |
A |
16: 24,661,800 (GRCm38) |
|
probably benign |
Het |
| Mark2 |
A |
C |
19: 7,283,577 (GRCm38) |
|
probably benign |
Het |
| Mmp3 |
T |
C |
9: 7,451,910 (GRCm38) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,978,727 (GRCm38) |
|
probably benign |
Het |
| Mtr |
A |
T |
13: 12,222,226 (GRCm38) |
S569T |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,367,237 (GRCm38) |
S1752T |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,156,207 (GRCm38) |
L565H |
probably damaging |
Het |
| Numa1 |
A |
G |
7: 102,009,453 (GRCm38) |
K296E |
probably damaging |
Het |
| Olfr1477 |
A |
G |
19: 13,502,589 (GRCm38) |
E82G |
probably benign |
Het |
| Olfr201 |
C |
T |
16: 59,269,211 (GRCm38) |
G152D |
probably damaging |
Het |
| Olfr613 |
A |
T |
7: 103,552,322 (GRCm38) |
Y179F |
probably damaging |
Het |
| Pla2g2c |
T |
C |
4: 138,743,590 (GRCm38) |
|
probably benign |
Het |
| Pnpla7 |
A |
T |
2: 25,011,606 (GRCm38) |
E548V |
probably damaging |
Het |
| Ppm1m |
C |
A |
9: 106,196,696 (GRCm38) |
E273* |
probably null |
Het |
| Ppp2r1b |
C |
T |
9: 50,861,573 (GRCm38) |
R117* |
probably null |
Het |
| Psg-ps1 |
A |
G |
7: 17,677,881 (GRCm38) |
|
noncoding transcript |
Het |
| Rabgap1l |
G |
A |
1: 160,231,789 (GRCm38) |
|
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,546,378 (GRCm38) |
M49K |
possibly damaging |
Het |
| Rnf219 |
T |
A |
14: 104,503,344 (GRCm38) |
|
probably null |
Het |
| Rtel1 |
T |
G |
2: 181,323,405 (GRCm38) |
I146M |
probably damaging |
Het |
| Sdr9c7 |
A |
T |
10: 127,903,672 (GRCm38) |
M219L |
probably benign |
Het |
| Serpinb1a |
A |
T |
13: 32,850,276 (GRCm38) |
L44Q |
probably damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,287,362 (GRCm38) |
I190T |
possibly damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,914,392 (GRCm38) |
L177P |
probably damaging |
Het |
| Slc47a2 |
C |
T |
11: 61,336,242 (GRCm38) |
V167M |
possibly damaging |
Het |
| Snrnp200 |
C |
T |
2: 127,234,954 (GRCm38) |
|
probably benign |
Het |
| Snx13 |
C |
A |
12: 35,101,124 (GRCm38) |
|
probably benign |
Het |
| Snx25 |
C |
T |
8: 46,041,365 (GRCm38) |
A828T |
probably damaging |
Het |
| Spic |
A |
G |
10: 88,675,941 (GRCm38) |
L151P |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,622,950 (GRCm38) |
Q535K |
probably damaging |
Het |
| Ssu2 |
G |
A |
6: 112,374,820 (GRCm38) |
H315Y |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,313,378 (GRCm38) |
|
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,629,613 (GRCm38) |
I469T |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,240,672 (GRCm38) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,997,856 (GRCm38) |
I1260L |
probably benign |
Het |
| Treml1 |
C |
A |
17: 48,364,980 (GRCm38) |
S91* |
probably null |
Het |
| Trmt11 |
T |
C |
10: 30,535,243 (GRCm38) |
N418S |
probably benign |
Het |
| Ttf1 |
A |
G |
2: 29,084,655 (GRCm38) |
Y801C |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,464,403 (GRCm38) |
A2782V |
probably benign |
Het |
| Vps4a |
T |
C |
8: 107,036,701 (GRCm38) |
L29P |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 101,944,033 (GRCm38) |
I480T |
probably damaging |
Het |
| Ywhag |
A |
T |
5: 135,911,299 (GRCm38) |
V147E |
probably damaging |
Het |
|
| Other mutations in Glg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Glg1
|
APN |
8 |
111,159,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01326:Glg1
|
APN |
8 |
111,182,573 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01558:Glg1
|
APN |
8 |
111,187,730 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01798:Glg1
|
APN |
8 |
111,192,700 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
IGL02651:Glg1
|
APN |
8 |
111,160,727 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL03124:Glg1
|
APN |
8 |
111,200,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03374:Glg1
|
APN |
8 |
111,162,780 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03404:Glg1
|
APN |
8 |
111,159,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
diabolical
|
UTSW |
8 |
111,168,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB007:Glg1
|
UTSW |
8 |
111,160,735 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
BB017:Glg1
|
UTSW |
8 |
111,160,735 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
PIT4362001:Glg1
|
UTSW |
8 |
111,258,799 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0047:Glg1
|
UTSW |
8 |
111,165,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0255:Glg1
|
UTSW |
8 |
111,159,858 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0432:Glg1
|
UTSW |
8 |
111,182,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0458:Glg1
|
UTSW |
8 |
111,160,606 (GRCm38) |
splice site |
probably benign |
|
|
R0635:Glg1
|
UTSW |
8 |
111,163,764 (GRCm38) |
splice site |
probably benign |
|
|
R0765:Glg1
|
UTSW |
8 |
111,159,797 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1104:Glg1
|
UTSW |
8 |
111,197,603 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1495:Glg1
|
UTSW |
8 |
111,197,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1747:Glg1
|
UTSW |
8 |
111,197,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1899:Glg1
|
UTSW |
8 |
111,165,674 (GRCm38) |
missense |
probably benign |
0.23 |
|
R1950:Glg1
|
UTSW |
8 |
111,165,639 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R2074:Glg1
|
UTSW |
8 |
111,168,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2112:Glg1
|
UTSW |
8 |
111,192,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2275:Glg1
|
UTSW |
8 |
111,168,721 (GRCm38) |
nonsense |
probably null |
|
|
R2342:Glg1
|
UTSW |
8 |
111,187,807 (GRCm38) |
nonsense |
probably null |
|
|
R4633:Glg1
|
UTSW |
8 |
111,177,644 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4716:Glg1
|
UTSW |
8 |
111,160,775 (GRCm38) |
nonsense |
probably null |
|
|
R4732:Glg1
|
UTSW |
8 |
111,187,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4733:Glg1
|
UTSW |
8 |
111,187,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5594:Glg1
|
UTSW |
8 |
111,187,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5722:Glg1
|
UTSW |
8 |
111,169,562 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5951:Glg1
|
UTSW |
8 |
111,165,691 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5958:Glg1
|
UTSW |
8 |
111,259,104 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6090:Glg1
|
UTSW |
8 |
111,181,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6476:Glg1
|
UTSW |
8 |
111,200,174 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6480:Glg1
|
UTSW |
8 |
111,197,706 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6819:Glg1
|
UTSW |
8 |
111,187,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7116:Glg1
|
UTSW |
8 |
111,178,957 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7293:Glg1
|
UTSW |
8 |
111,168,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7431:Glg1
|
UTSW |
8 |
111,160,754 (GRCm38) |
missense |
unknown |
|
|
R7479:Glg1
|
UTSW |
8 |
111,197,735 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7509:Glg1
|
UTSW |
8 |
111,259,043 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7547:Glg1
|
UTSW |
8 |
111,187,761 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7678:Glg1
|
UTSW |
8 |
111,178,865 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7930:Glg1
|
UTSW |
8 |
111,160,735 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8182:Glg1
|
UTSW |
8 |
111,171,297 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8383:Glg1
|
UTSW |
8 |
111,169,562 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8787:Glg1
|
UTSW |
8 |
111,161,482 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8905:Glg1
|
UTSW |
8 |
111,158,036 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8954:Glg1
|
UTSW |
8 |
111,187,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8958:Glg1
|
UTSW |
8 |
111,172,484 (GRCm38) |
nonsense |
probably null |
|
|
R9023:Glg1
|
UTSW |
8 |
111,177,748 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9113:Glg1
|
UTSW |
8 |
111,160,820 (GRCm38) |
intron |
probably benign |
|
|
R9359:Glg1
|
UTSW |
8 |
111,187,793 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9403:Glg1
|
UTSW |
8 |
111,187,793 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9553:Glg1
|
UTSW |
8 |
111,200,138 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9622:Glg1
|
UTSW |
8 |
111,172,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9714:Glg1
|
UTSW |
8 |
111,197,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0027:Glg1
|
UTSW |
8 |
111,169,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-08 |
Incidental Mutation