Incidental Mutation 'R9553:Glg1'
| ID |
720614 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
R9553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111881053-111985848 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111926770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 182
(E182K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000169020]
|
| AlphaFold |
Q61543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003404
AA Change: E171K
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: E171K
| 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: E182K
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: E182K
| 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: E182K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: E182K
| 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: 99.6%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
C |
T |
7: 43,900,334 (GRCm39) |
R80W |
probably damaging |
Het |
| Ankdd1b |
G |
T |
13: 96,591,294 (GRCm39) |
N68K |
possibly damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,619,115 (GRCm39) |
E452G |
probably damaging |
Het |
| Cbx8 |
T |
G |
11: 118,930,964 (GRCm39) |
E45D |
probably damaging |
Het |
| Ceacam15 |
T |
C |
7: 16,407,316 (GRCm39) |
Y67C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,723,926 (GRCm39) |
Y570C |
probably damaging |
Het |
| Cnga4 |
A |
G |
7: 105,054,977 (GRCm39) |
Y187C |
probably damaging |
Het |
| Cntrob |
T |
C |
11: 69,205,679 (GRCm39) |
N385S |
probably benign |
Het |
| Coro7 |
A |
G |
16: 4,486,624 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,264,956 (GRCm39) |
Y2150C |
probably damaging |
Het |
| E2f8 |
A |
G |
7: 48,528,394 (GRCm39) |
S25P |
probably damaging |
Het |
| Eif1ad7 |
A |
G |
12: 88,238,476 (GRCm39) |
Y95H |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,837 (GRCm39) |
E503G |
probably damaging |
Het |
| Elp6 |
T |
A |
9: 110,144,965 (GRCm39) |
V157D |
probably damaging |
Het |
| Entpd3 |
T |
C |
9: 120,387,546 (GRCm39) |
Y248H |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,844,561 (GRCm39) |
E561G |
unknown |
Het |
| Fbxl13 |
C |
T |
5: 21,728,151 (GRCm39) |
G519S |
probably damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,309,228 (GRCm39) |
S422A |
probably damaging |
Het |
| Flg2 |
G |
A |
3: 93,121,901 (GRCm39) |
C1357Y |
unknown |
Het |
| Fpr3 |
T |
A |
17: 18,191,612 (GRCm39) |
N294K |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,525,048 (GRCm39) |
Q312R |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,087 (GRCm39) |
D374G |
probably damaging |
Het |
| Ifrd2 |
C |
T |
9: 107,468,285 (GRCm39) |
T251I |
possibly damaging |
Het |
| Igkv4-91 |
C |
T |
6: 68,745,632 (GRCm39) |
G89R |
possibly damaging |
Het |
| Kcnk1 |
C |
A |
8: 126,756,322 (GRCm39) |
Y281* |
probably null |
Het |
| Kcp |
G |
T |
6: 29,485,100 (GRCm39) |
F1217L |
probably null |
Het |
| Lama3 |
G |
A |
18: 12,563,019 (GRCm39) |
G514D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,008,800 (GRCm39) |
L34P |
probably damaging |
Het |
| Mak |
T |
A |
13: 41,183,595 (GRCm39) |
T562S |
probably benign |
Het |
| Nfatc4 |
A |
G |
14: 56,070,259 (GRCm39) |
E879G |
probably damaging |
Het |
| Or5w14 |
A |
T |
2: 87,541,992 (GRCm39) |
V86E |
probably benign |
Het |
| Pcdhb19 |
C |
T |
18: 37,631,848 (GRCm39) |
R548C |
probably damaging |
Het |
| Peli2 |
A |
G |
14: 48,488,150 (GRCm39) |
I165V |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,753,977 (GRCm39) |
M148L |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,637,014 (GRCm39) |
G172R |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,928,310 (GRCm39) |
V537A |
probably damaging |
Het |
| Rnf135 |
T |
A |
11: 80,074,758 (GRCm39) |
S6T |
probably benign |
Het |
| Sirpb1a |
C |
T |
3: 15,476,320 (GRCm39) |
C226Y |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,394,645 (GRCm39) |
I1785L |
probably benign |
Het |
| Spry4 |
T |
C |
18: 38,723,070 (GRCm39) |
N231S |
probably damaging |
Het |
| Tchh |
C |
T |
3: 93,355,125 (GRCm39) |
Q1522* |
probably null |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Trav7d-3 |
G |
T |
14: 52,981,820 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
A |
C |
7: 9,720,849 (GRCm39) |
V214G |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,743 (GRCm39) |
Y32H |
probably benign |
Het |
| Vwf |
A |
C |
6: 125,577,662 (GRCm39) |
D501A |
|
Het |
| Zfp428 |
A |
G |
7: 24,214,866 (GRCm39) |
T161A |
possibly damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
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 |
|
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 |
|
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'- TCACCCTACTGTGTTGGTGG -3'
(R):5'- TTGAGCTACTGGAAATGTCAATGTG -3'
Sequencing Primer
(F):5'- CCTACTGTGTTGGTGGGTAATCAC -3'
(R):5'- GGAAATGTCAATGTGCTTTATGTGAC -3'
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| Posted On |
2022-08-09 |
Incidental Mutation