Incidental Mutation 'R6476:Glg1'
| ID |
516791 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R6476 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111154421-111259216 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 111200174 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 170
(S170A)
|
| 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: S159A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: S159A
| 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 |
possibly damaging
Transcript: ENSMUST00000164283
AA Change: S170A
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: S170A
| 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: S170A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: S170A
| 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: 98.3%
- 20x: 95.3%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020D05Rik |
A |
C |
19: 5,503,225 (GRCm38) |
I176S |
probably damaging |
Het |
| a |
T |
C |
2: 155,050,779 (GRCm38) |
V126A |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,361,810 (GRCm38) |
Q336R |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,628,753 (GRCm38) |
T6A |
probably benign |
Het |
| Arhgap33 |
A |
G |
7: 30,524,412 (GRCm38) |
S731P |
probably damaging |
Het |
| Arhgef10l |
G |
C |
4: 140,611,382 (GRCm38) |
P23R |
probably damaging |
Het |
| Atf7 |
T |
C |
15: 102,593,712 (GRCm38) |
D3G |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,175,560 (GRCm38) |
T30A |
possibly damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,342,419 (GRCm38) |
I191N |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,780,351 (GRCm38) |
S180T |
possibly damaging |
Het |
| Chd1 |
G |
A |
17: 17,380,988 (GRCm38) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,781,812 (GRCm38) |
N1887K |
unknown |
Het |
| Csgalnact1 |
T |
A |
8: 68,461,110 (GRCm38) |
S148C |
probably damaging |
Het |
| Csgalnact1 |
C |
T |
8: 68,461,109 (GRCm38) |
S148N |
probably damaging |
Het |
| D10Jhu81e |
T |
C |
10: 78,167,513 (GRCm38) |
N102D |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,744,768 (GRCm38) |
E2888G |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,242,204 (GRCm38) |
Y2808* |
probably null |
Het |
| Dock10 |
A |
C |
1: 80,541,242 (GRCm38) |
L1254* |
probably null |
Het |
| Eml2 |
T |
C |
7: 19,196,311 (GRCm38) |
V511A |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,791,971 (GRCm38) |
|
probably null |
Het |
| Erbin |
C |
A |
13: 103,841,247 (GRCm38) |
D601Y |
probably damaging |
Het |
| Fam35a |
T |
C |
14: 34,268,014 (GRCm38) |
S312G |
probably benign |
Het |
| Farsa |
A |
G |
8: 84,857,180 (GRCm38) |
E49G |
probably damaging |
Het |
| Fzd7 |
A |
G |
1: 59,483,995 (GRCm38) |
M346V |
probably damaging |
Het |
| Gm21994 |
T |
C |
2: 150,255,326 (GRCm38) |
D61G |
probably benign |
Het |
| Gm340 |
C |
T |
19: 41,583,079 (GRCm38) |
T237I |
probably benign |
Het |
| Gpx3 |
A |
T |
11: 54,907,199 (GRCm38) |
I54F |
probably damaging |
Het |
| H6pd |
G |
A |
4: 149,982,727 (GRCm38) |
H401Y |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,422,398 (GRCm38) |
S28P |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,449,745 (GRCm38) |
N707I |
probably damaging |
Het |
| Krt9 |
A |
T |
11: 100,190,814 (GRCm38) |
D296E |
probably damaging |
Het |
| Lnx1 |
A |
G |
5: 74,607,880 (GRCm38) |
V349A |
possibly damaging |
Het |
| Map3k6 |
A |
T |
4: 133,250,086 (GRCm38) |
S915C |
probably damaging |
Het |
| Mecom |
C |
A |
3: 29,980,568 (GRCm38) |
A510S |
possibly damaging |
Het |
| Mettl14 |
A |
G |
3: 123,374,037 (GRCm38) |
I224T |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,343,635 (GRCm38) |
|
probably null |
Het |
| Nbea |
T |
A |
3: 56,004,806 (GRCm38) |
T1187S |
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,248,142 (GRCm38) |
T444A |
possibly damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,014,181 (GRCm38) |
L200P |
possibly damaging |
Het |
| Npc1 |
G |
T |
18: 12,201,694 (GRCm38) |
S667* |
probably null |
Het |
| Olfr1009 |
T |
A |
2: 85,721,584 (GRCm38) |
Y60N |
probably damaging |
Het |
| Olfr1214 |
T |
A |
2: 88,987,377 (GRCm38) |
D275V |
probably benign |
Het |
| Olfr294 |
C |
T |
7: 86,616,010 (GRCm38) |
V212I |
probably benign |
Het |
| Olfr355 |
T |
A |
2: 36,927,583 (GRCm38) |
H177L |
possibly damaging |
Het |
| Olfr557 |
T |
A |
7: 102,699,103 (GRCm38) |
N288K |
possibly damaging |
Het |
| Pds5a |
A |
C |
5: 65,634,287 (GRCm38) |
I773R |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,964,838 (GRCm38) |
|
probably null |
Het |
| Plscr4 |
A |
T |
9: 92,490,766 (GRCm38) |
M314L |
probably benign |
Het |
| Polr2m |
A |
G |
9: 71,483,470 (GRCm38) |
V46A |
probably benign |
Het |
| Ptk2b |
T |
A |
14: 66,187,474 (GRCm38) |
M174L |
possibly damaging |
Het |
| Sec31a |
A |
T |
5: 100,386,149 (GRCm38) |
F521I |
probably benign |
Het |
| Serpinb3d |
T |
C |
1: 107,083,341 (GRCm38) |
N47S |
probably benign |
Het |
| Slc17a2 |
C |
A |
13: 23,812,586 (GRCm38) |
H25N |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,606,830 (GRCm38) |
D431E |
probably benign |
Het |
| Slc9a9 |
T |
C |
9: 94,685,138 (GRCm38) |
F87L |
probably benign |
Het |
| Spata31 |
T |
A |
13: 64,917,642 (GRCm38) |
S54T |
possibly damaging |
Het |
| Spata6 |
T |
C |
4: 111,774,823 (GRCm38) |
S144P |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,186,769 (GRCm38) |
N132D |
probably benign |
Het |
| Ssu2 |
C |
T |
6: 112,374,832 (GRCm38) |
G311S |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,154,531 (GRCm38) |
Q6328L |
possibly damaging |
Het |
| Tie1 |
T |
C |
4: 118,472,865 (GRCm38) |
T1054A |
possibly damaging |
Het |
| Tnfaip6 |
T |
G |
2: 52,052,316 (GRCm38) |
D212E |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,690,192 (GRCm38) |
T1442A |
probably damaging |
Het |
| Trim35 |
C |
T |
14: 66,308,795 (GRCm38) |
T337M |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,669,423 (GRCm38) |
V413A |
probably benign |
Het |
| Vmn1r19 |
C |
G |
6: 57,404,593 (GRCm38) |
Q44E |
probably damaging |
Het |
| Zfp266 |
G |
T |
9: 20,499,281 (GRCm38) |
H533Q |
probably damaging |
Het |
| Zfp689 |
T |
C |
7: 127,444,724 (GRCm38) |
S245G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCCTACTGTGTTGGTGG -3'
(R):5'- GCTACTGGAAATGTCAATGTGC -3'
Sequencing Primer
(F):5'- AGTTACACATCCCTGCTGAATC -3'
(R):5'- GGAAATGTCAATGTGCTTTATGTGAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation