Incidental Mutation 'R8958:Glg1'
| ID |
682166 |
| 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 |
068794-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
R8958 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111881053-111985848 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 111899116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 716
(C716*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000168741]
[ENSMUST00000169020]
|
| AlphaFold |
Q61543 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003404
AA Change: C705*
|
| SMART Domains |
Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: C705*
| 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 null
Transcript: ENSMUST00000168741
AA Change: C109*
|
| SMART Domains |
Protein: ENSMUSP00000130327
Gene: ENSMUSG00000003316
AA Change: C109*
| 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 null
Transcript: ENSMUST00000169020
AA Change: C716*
|
| SMART Domains |
Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: C716*
| 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: 99.4%
- 20x: 97.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
T |
12: 21,399,934 (GRCm39) |
N157K |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,848 (GRCm39) |
V412A |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,865,190 (GRCm39) |
V11I |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,019 (GRCm39) |
D643G |
probably damaging |
Het |
| Arvcf |
A |
G |
16: 18,221,376 (GRCm39) |
Q597R |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,525,877 (GRCm39) |
V910A |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,851,283 (GRCm39) |
D1167G |
probably benign |
Het |
| Ccdc187 |
A |
C |
2: 26,165,577 (GRCm39) |
S860A |
probably benign |
Het |
| Ccdc28a |
T |
C |
10: 18,089,926 (GRCm39) |
I113M |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,704,127 (GRCm39) |
N699S |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,385,350 (GRCm39) |
I2310K |
possibly damaging |
Het |
| Ch25h |
A |
T |
19: 34,452,414 (GRCm39) |
I38N |
probably benign |
Het |
| Chrdl2 |
C |
A |
7: 99,670,129 (GRCm39) |
P84Q |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,586,403 (GRCm39) |
Y1673N |
possibly damaging |
Het |
| Cr1l |
C |
G |
1: 194,812,243 (GRCm39) |
G27R |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 4,031,172 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,586,805 (GRCm39) |
E929K |
probably benign |
Het |
| E2f7 |
C |
A |
10: 110,601,615 (GRCm39) |
P324Q |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,411,194 (GRCm39) |
D215G |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 102,072,614 (GRCm39) |
I55T |
probably damaging |
Het |
| Fbxw14 |
A |
T |
9: 109,107,810 (GRCm39) |
L188Q |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,944 (GRCm39) |
S226P |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,275,210 (GRCm39) |
F337L |
probably damaging |
Het |
| Gp1ba |
C |
G |
11: 70,531,730 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,472,783 (GRCm39) |
S36L |
probably damaging |
Het |
| H2-M5 |
T |
A |
17: 37,299,520 (GRCm39) |
I167F |
probably damaging |
Het |
| H3c6 |
T |
C |
13: 23,746,421 (GRCm39) |
H40R |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 24,169,934 (GRCm39) |
C472R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ino80 |
C |
T |
2: 119,213,862 (GRCm39) |
R1236H |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,573,995 (GRCm39) |
I115N |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,573 (GRCm39) |
S950P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,835,592 (GRCm39) |
T1254A |
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,698,361 (GRCm39) |
K339* |
probably null |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
| Myzap |
G |
T |
9: 71,457,485 (GRCm39) |
D303E |
possibly damaging |
Het |
| Naa11 |
T |
C |
5: 97,540,084 (GRCm39) |
N25D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,354,117 (GRCm39) |
K1149* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,964,158 (GRCm39) |
V3083M |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,091 (GRCm39) |
T155A |
probably benign |
Het |
| Or4k48 |
T |
C |
2: 111,476,070 (GRCm39) |
T91A |
possibly damaging |
Het |
| Parn |
T |
A |
16: 13,466,322 (GRCm39) |
E241D |
possibly damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,517 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
T |
5: 14,725,369 (GRCm39) |
E1409V |
unknown |
Het |
| Pclo |
A |
G |
5: 14,763,056 (GRCm39) |
Y3843C |
unknown |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,634 (GRCm39) |
M563K |
probably benign |
Het |
| Prdm1 |
T |
G |
10: 44,316,729 (GRCm39) |
K623Q |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,698,973 (GRCm39) |
V1152A |
probably benign |
Het |
| Ptx3 |
G |
A |
3: 66,128,391 (GRCm39) |
A151T |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,940 (GRCm39) |
S282G |
possibly damaging |
Het |
| Ros1 |
G |
T |
10: 51,972,190 (GRCm39) |
N1641K |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,181,768 (GRCm39) |
K4189R |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,246,091 (GRCm39) |
K611E |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,376 (GRCm39) |
Q151R |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,003,667 (GRCm39) |
I254V |
probably benign |
Het |
| Trim46 |
T |
C |
3: 89,143,760 (GRCm39) |
D556G |
probably damaging |
Het |
| Wdr97 |
A |
T |
15: 76,245,694 (GRCm39) |
E1310D |
|
Het |
| Zfp513 |
C |
A |
5: 31,356,825 (GRCm39) |
R487L |
probably damaging |
Het |
| Zmpste24 |
C |
A |
4: 120,944,508 (GRCm39) |
E97* |
probably null |
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 |
|
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 |
|
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'- TAAGCTGTTGAGAAAAGCCCAG -3'
(R):5'- GCTGAATTGCTATCGTTCCTG -3'
Sequencing Primer
(F):5'- AGCCCAGTTTATTGAGAAGCTG -3'
(R):5'- GCTGAATTGCTATCGTTCCTGATTTC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation