Incidental Mutation 'R8787:Glg1'
ID |
670709 |
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 |
068633-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.357)
|
Stock # |
R8787 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
111881053-111985848 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 111888114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 1026
(V1026L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000168741]
[ENSMUST00000169020]
|
AlphaFold |
Q61543 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003404
AA Change: V1015L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000003404 Gene: ENSMUSG00000003316 AA Change: V1015L
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 |
possibly damaging
Transcript: ENSMUST00000168741
AA Change: V419L
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130327 Gene: ENSMUSG00000003316 AA Change: V419L
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: V1026L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131355 Gene: ENSMUSG00000003316 AA Change: V1026L
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (62/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,225,053 (GRCm39) |
H511Y |
possibly damaging |
Het |
Acp5 |
G |
A |
9: 22,038,489 (GRCm39) |
R271* |
probably null |
Het |
Adamts20 |
A |
T |
15: 94,184,294 (GRCm39) |
V1503E |
possibly damaging |
Het |
Adra2b |
A |
T |
2: 127,206,417 (GRCm39) |
E311D |
probably benign |
Het |
Aldh18a1 |
T |
C |
19: 40,546,230 (GRCm39) |
I556V |
possibly damaging |
Het |
Alox12 |
C |
A |
11: 70,144,146 (GRCm39) |
A116S |
probably benign |
Het |
Alox5 |
G |
T |
6: 116,390,102 (GRCm39) |
A552E |
probably damaging |
Het |
Angpt1 |
G |
T |
15: 42,375,780 (GRCm39) |
L159I |
probably damaging |
Het |
Atp2b4 |
CTT |
CTTTTT |
1: 133,629,485 (GRCm39) |
|
probably benign |
Het |
Bub1b |
T |
A |
2: 118,462,305 (GRCm39) |
L726I |
probably damaging |
Het |
Ccdc78 |
A |
T |
17: 26,006,807 (GRCm39) |
T165S |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,824,791 (GRCm39) |
D1323G |
probably damaging |
Het |
Chek1 |
A |
T |
9: 36,625,033 (GRCm39) |
C349* |
probably null |
Het |
Clec1a |
A |
T |
6: 129,428,617 (GRCm39) |
L21Q |
possibly damaging |
Het |
Col1a1 |
T |
C |
11: 94,833,634 (GRCm39) |
V445A |
possibly damaging |
Het |
Efcab7 |
A |
G |
4: 99,757,791 (GRCm39) |
T313A |
probably null |
Het |
Fads1 |
T |
A |
19: 10,170,325 (GRCm39) |
Y288* |
probably null |
Het |
Fgb |
T |
A |
3: 82,953,969 (GRCm39) |
T90S |
probably benign |
Het |
Hadh |
T |
A |
3: 131,027,825 (GRCm39) |
Y313F |
probably damaging |
Het |
Htr4 |
A |
G |
18: 62,570,853 (GRCm39) |
I303V |
possibly damaging |
Het |
Kcnn3 |
A |
G |
3: 89,552,757 (GRCm39) |
D487G |
possibly damaging |
Het |
L1td1 |
G |
A |
4: 98,625,814 (GRCm39) |
V604I |
probably benign |
Het |
Lao1 |
A |
G |
4: 118,825,565 (GRCm39) |
T462A |
probably damaging |
Het |
Lefty1 |
C |
A |
1: 180,764,118 (GRCm39) |
A86E |
probably damaging |
Het |
Lmx1b |
T |
C |
2: 33,529,522 (GRCm39) |
Y79C |
|
Het |
Lrp2 |
A |
G |
2: 69,382,745 (GRCm39) |
C47R |
probably damaging |
Het |
Mrc2 |
A |
T |
11: 105,238,465 (GRCm39) |
N1204I |
probably benign |
Het |
Ncf1 |
A |
C |
5: 134,254,145 (GRCm39) |
Y209* |
probably null |
Het |
Or14j7 |
T |
A |
17: 38,235,075 (GRCm39) |
M206K |
probably benign |
Het |
Or2ad1 |
A |
T |
13: 21,326,453 (GRCm39) |
M258K |
possibly damaging |
Het |
Or8k33 |
G |
A |
2: 86,384,297 (GRCm39) |
T57M |
probably damaging |
Het |
Oxtr |
T |
G |
6: 112,466,871 (GRCm39) |
|
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,224,942 (GRCm39) |
V585A |
probably damaging |
Het |
Pdcd11 |
T |
G |
19: 47,097,019 (GRCm39) |
L755R |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,358,461 (GRCm39) |
V2705A |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,070,875 (GRCm39) |
G1168V |
probably benign |
Het |
Prpf39 |
T |
C |
12: 65,089,555 (GRCm39) |
Y98H |
possibly damaging |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Rassf10 |
T |
A |
7: 112,554,738 (GRCm39) |
D446E |
probably benign |
Het |
Rgs13 |
T |
C |
1: 144,016,482 (GRCm39) |
Y87C |
probably damaging |
Het |
Serpinb9h |
G |
A |
13: 33,588,204 (GRCm39) |
R263H |
probably benign |
Het |
Smpd3 |
G |
A |
8: 106,982,377 (GRCm39) |
R576C |
probably damaging |
Het |
Spata31e1 |
T |
C |
13: 49,938,704 (GRCm39) |
Y1002C |
probably damaging |
Het |
Srsf11 |
A |
T |
3: 157,718,037 (GRCm39) |
D382E |
unknown |
Het |
Stpg1 |
T |
A |
4: 135,261,108 (GRCm39) |
M306K |
probably benign |
Het |
Svil |
C |
T |
18: 5,059,332 (GRCm39) |
Q696* |
probably null |
Het |
Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
Synj2 |
T |
C |
17: 6,036,514 (GRCm39) |
F161S |
possibly damaging |
Het |
Tek |
T |
C |
4: 94,738,037 (GRCm39) |
Y696H |
probably damaging |
Het |
Tgfbr1 |
A |
T |
4: 47,405,555 (GRCm39) |
D386V |
possibly damaging |
Het |
Tgm4 |
G |
T |
9: 122,890,910 (GRCm39) |
G503V |
probably damaging |
Het |
Tnni3k |
T |
C |
3: 154,645,691 (GRCm39) |
E461G |
probably damaging |
Het |
Tom1l1 |
A |
T |
11: 90,561,931 (GRCm39) |
H232Q |
probably benign |
Het |
Ubqln5 |
T |
C |
7: 103,778,329 (GRCm39) |
N165S |
probably benign |
Het |
Vmn1r24 |
G |
A |
6: 57,932,958 (GRCm39) |
L187F |
probably benign |
Het |
Vmn2r82 |
C |
T |
10: 79,213,894 (GRCm39) |
T160I |
probably damaging |
Het |
Vmn2r96 |
G |
T |
17: 18,818,250 (GRCm39) |
G801V |
probably damaging |
Het |
Vps39 |
A |
G |
2: 120,172,506 (GRCm39) |
S176P |
probably damaging |
Het |
Vsig10 |
C |
A |
5: 117,472,981 (GRCm39) |
H191Q |
probably benign |
Het |
Wtap |
G |
A |
17: 13,186,488 (GRCm39) |
S353L |
possibly damaging |
Het |
Zmym4 |
T |
G |
4: 126,816,953 (GRCm39) |
R248S |
probably benign |
Het |
Zscan10 |
A |
G |
17: 23,829,011 (GRCm39) |
S518G |
probably benign |
Het |
Zscan29 |
A |
T |
2: 120,996,876 (GRCm39) |
Y282N |
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 |
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 |
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'- ATATAAGCCTTTCTACCCAGCATTC -3'
(R):5'- CTGAGAAGCAGGCCTATTCAG -3'
Sequencing Primer
(F):5'- ATGCTGTTATTCCTTTCCAAACC -3'
(R):5'- CCTATTCAGAGTCAGCAACGGG -3'
|
Posted On |
2021-04-30 |