Incidental Mutation 'R5722:Glg1'
ID |
452273 |
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 |
043340-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.357)
|
Stock # |
R5722 (G1)
|
Quality Score |
178 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
111881053-111985848 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111896194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 177
(T177A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000168741]
[ENSMUST00000169020]
|
AlphaFold |
Q61543 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003404
AA Change: T773A
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000003404 Gene: ENSMUSG00000003316 AA Change: T773A
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: T177A
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130327 Gene: ENSMUSG00000003316 AA Change: T177A
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: T784A
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131355 Gene: ENSMUSG00000003316 AA Change: T784A
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: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
G |
A |
3: 32,772,194 (GRCm39) |
R164H |
probably damaging |
Het |
Afg3l2 |
A |
G |
18: 67,573,269 (GRCm39) |
Y178H |
probably benign |
Het |
Agtr1a |
A |
G |
13: 30,566,016 (GRCm39) |
*360W |
probably null |
Het |
Arfgef1 |
A |
G |
1: 10,209,109 (GRCm39) |
V1830A |
probably benign |
Het |
Asic2 |
A |
T |
11: 81,858,806 (GRCm39) |
S69T |
probably benign |
Het |
Axin1 |
A |
T |
17: 26,401,531 (GRCm39) |
N368Y |
probably damaging |
Het |
Brme1 |
A |
G |
8: 84,898,473 (GRCm39) |
E537G |
probably damaging |
Het |
Ces1d |
G |
A |
8: 93,904,756 (GRCm39) |
P328L |
probably benign |
Het |
Cndp2 |
T |
A |
18: 84,686,203 (GRCm39) |
K461* |
probably null |
Het |
Cntnap5c |
A |
T |
17: 58,620,852 (GRCm39) |
H977L |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gm7168 |
T |
C |
17: 14,169,824 (GRCm39) |
V397A |
probably benign |
Het |
Hif1a |
T |
A |
12: 73,988,533 (GRCm39) |
D535E |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ice1 |
T |
C |
13: 70,763,219 (GRCm39) |
E173G |
possibly damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,329,909 (GRCm39) |
V115A |
probably damaging |
Het |
Irf2 |
A |
T |
8: 47,271,831 (GRCm39) |
E101D |
possibly damaging |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kyat1 |
C |
T |
2: 30,078,123 (GRCm39) |
C127Y |
probably damaging |
Het |
Mrgpra4 |
T |
C |
7: 47,630,755 (GRCm39) |
H282R |
probably benign |
Het |
Npsr1 |
C |
A |
9: 24,225,096 (GRCm39) |
P368Q |
probably damaging |
Het |
Nwd1 |
G |
A |
8: 73,401,872 (GRCm39) |
V839M |
probably damaging |
Het |
Or51a43 |
T |
A |
7: 103,717,930 (GRCm39) |
M103L |
probably damaging |
Het |
Or6n2 |
G |
T |
1: 173,897,436 (GRCm39) |
D191Y |
probably damaging |
Het |
P4ha3 |
A |
G |
7: 99,955,198 (GRCm39) |
D351G |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,479,160 (GRCm39) |
|
probably null |
Het |
Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
G |
T |
1: 133,031,574 (GRCm39) |
G1505W |
probably damaging |
Het |
Plppr5 |
A |
T |
3: 117,414,714 (GRCm39) |
I112L |
probably benign |
Het |
Potefam1 |
T |
A |
2: 111,034,468 (GRCm39) |
T355S |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,226 (GRCm39) |
I575T |
possibly damaging |
Het |
Ranbp3l |
A |
G |
15: 9,029,656 (GRCm39) |
E46G |
probably damaging |
Het |
Rbm46 |
A |
G |
3: 82,772,640 (GRCm39) |
V164A |
possibly damaging |
Het |
Sap25 |
A |
G |
5: 137,639,713 (GRCm39) |
E13G |
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,899,860 (GRCm39) |
V1269E |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,726,109 (GRCm39) |
S18R |
possibly damaging |
Het |
Snrk |
T |
C |
9: 121,993,072 (GRCm39) |
I345T |
probably benign |
Het |
Sp4 |
T |
A |
12: 118,262,976 (GRCm39) |
I357F |
possibly damaging |
Het |
Sra1 |
A |
G |
18: 36,808,031 (GRCm39) |
L399P |
probably damaging |
Het |
Stat6 |
A |
G |
10: 127,494,242 (GRCm39) |
T658A |
probably benign |
Het |
Sv2a |
G |
A |
3: 96,092,339 (GRCm39) |
R13H |
probably benign |
Het |
Thoc3 |
G |
T |
13: 54,608,014 (GRCm39) |
T310N |
probably damaging |
Het |
Tox3 |
A |
C |
8: 91,074,489 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
G |
9: 8,680,550 (GRCm39) |
E848G |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,538,590 (GRCm39) |
T34703S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,776,312 (GRCm39) |
I1577V |
probably damaging |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Ugt2b36 |
C |
T |
5: 87,240,297 (GRCm39) |
W29* |
probably null |
Het |
Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
Zfp790 |
C |
A |
7: 29,529,514 (GRCm39) |
S733* |
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 |
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 |
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'- GACTCTGTCCTAGTTTGGAGTCC -3'
(R):5'- CCATTGTTAATAAGGGCGACAG -3'
Sequencing Primer
(F):5'- CCTAGTTTGGAGTCCTGTGTTG -3'
(R):5'- GGCTGGTCTTGAACTCAGAAATCC -3'
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Posted On |
2017-01-03 |