Incidental Mutation 'PIT4362001:Glg1'
| ID |
554628 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
PIT4362001 (G1)
|
| Quality Score |
124.008 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111881053-111985848 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111985431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 133
(V133E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003404]
[ENSMUST00000164283]
[ENSMUST00000169020]
|
| AlphaFold |
Q61543 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003404
AA Change: V133E
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: V133E
| 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 damaging
Transcript: ENSMUST00000164283
AA Change: V133E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: V133E
| 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: ENSMUST00000169020
AA Change: V133E
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: V133E
| 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: 93.4%
- 3x: 91.2%
- 10x: 87.0%
- 20x: 78.3%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,283,398 (GRCm39) |
S28P |
possibly damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,129,100 (GRCm39) |
V165A |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,321,839 (GRCm39) |
T44S |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,796,861 (GRCm39) |
N482K |
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,866,591 (GRCm39) |
D182V |
|
Het |
| Atad5 |
C |
T |
11: 80,002,393 (GRCm39) |
H1062Y |
probably benign |
Het |
| Atp6v0b |
A |
G |
4: 117,742,453 (GRCm39) |
S147P |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,959,905 (GRCm39) |
Y299* |
probably null |
Het |
| Ccdc28b |
T |
C |
4: 129,514,818 (GRCm39) |
N97S |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,301,237 (GRCm39) |
V479A |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,087,022 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,968 (GRCm39) |
G426D |
probably damaging |
Het |
| Cog4 |
G |
A |
8: 111,593,304 (GRCm39) |
D472N |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,472 (GRCm39) |
L193* |
probably null |
Het |
| Cxcr6 |
A |
T |
9: 123,639,526 (GRCm39) |
I183F |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,453,664 (GRCm39) |
F253L |
probably benign |
Het |
| Dcaf8 |
T |
C |
1: 172,000,364 (GRCm39) |
V174A |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,779 (GRCm39) |
Y526C |
probably damaging |
Het |
| Dnal4 |
A |
G |
15: 79,647,766 (GRCm39) |
V33A |
probably benign |
Het |
| Egfl7 |
C |
T |
2: 26,481,052 (GRCm39) |
P188L |
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,039,607 (GRCm39) |
E707G |
probably damaging |
Het |
| Epn3 |
C |
T |
11: 94,387,349 (GRCm39) |
R7H |
probably damaging |
Het |
| Fbp1 |
T |
A |
13: 63,015,194 (GRCm39) |
I262F |
probably damaging |
Het |
| Fgfbp3 |
G |
A |
19: 36,896,088 (GRCm39) |
R177* |
probably null |
Het |
| Gask1b |
C |
A |
3: 79,794,246 (GRCm39) |
S238Y |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,471 (GRCm39) |
S52P |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,685,277 (GRCm39) |
S282T |
probably benign |
Het |
| Gm4787 |
T |
G |
12: 81,423,949 (GRCm39) |
L736F |
probably benign |
Het |
| Gm5565 |
A |
T |
5: 146,095,109 (GRCm39) |
S212R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,140,459 (GRCm39) |
T1220A |
probably benign |
Het |
| Grp |
T |
G |
18: 66,019,297 (GRCm39) |
S133A |
probably benign |
Het |
| Gstp2 |
C |
A |
19: 4,090,713 (GRCm39) |
D147Y |
possibly damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,392 (GRCm39) |
F84L |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,475,220 (GRCm39) |
R944G |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,245,132 (GRCm39) |
N216K |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,367,882 (GRCm39) |
D210V |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,608 (GRCm39) |
Q120L |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,907,055 (GRCm39) |
I1555T |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,451,677 (GRCm39) |
G189D |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,155,361 (GRCm39) |
E12G |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,844,542 (GRCm39) |
D152G |
possibly damaging |
Het |
| Med23 |
A |
G |
10: 24,750,469 (GRCm39) |
M99V |
probably benign |
Het |
| Mutyh |
G |
A |
4: 116,674,267 (GRCm39) |
V273M |
probably damaging |
Het |
| Neurod2 |
T |
A |
11: 98,218,708 (GRCm39) |
Y152F |
probably damaging |
Het |
| Or5d3 |
C |
T |
2: 88,174,357 (GRCm39) |
A247T |
probably benign |
Het |
| Or5g25 |
A |
C |
2: 85,478,068 (GRCm39) |
L199R |
probably damaging |
Het |
| Or8c20 |
G |
T |
9: 38,260,494 (GRCm39) |
L32F |
probably benign |
Het |
| Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,571,451 (GRCm39) |
|
probably null |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,762 (GRCm39) |
D638V |
possibly damaging |
Het |
| Polr1b |
A |
G |
2: 128,951,212 (GRCm39) |
D275G |
possibly damaging |
Het |
| Rnf157 |
T |
A |
11: 116,251,143 (GRCm39) |
D127V |
probably damaging |
Het |
| Rspo4 |
T |
A |
2: 151,709,803 (GRCm39) |
C69* |
probably null |
Het |
| Scara3 |
T |
C |
14: 66,173,851 (GRCm39) |
T63A |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,182 (GRCm39) |
E289K |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,786 (GRCm39) |
T163A |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,358,213 (GRCm39) |
F446Y |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,029,269 (GRCm39) |
R351C |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,814,815 (GRCm39) |
Y169H |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,697,299 (GRCm39) |
C1996* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,030,337 (GRCm39) |
T398A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,103,510 (GRCm39) |
L260Q |
probably benign |
Het |
| Tspan12 |
A |
T |
6: 21,835,463 (GRCm39) |
V70D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,569,362 (GRCm39) |
A27177V |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,925,870 (GRCm39) |
V237A |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,460,542 (GRCm39) |
R233H |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,433,088 (GRCm39) |
T716A |
probably benign |
Het |
| Zbp1 |
A |
G |
2: 173,058,783 (GRCm39) |
I18T |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,807,524 (GRCm39) |
V1845A |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,579,393 (GRCm39) |
N573K |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,735 (GRCm39) |
T626A |
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 |
|
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 |
|
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'- CCATTGCTACAAACTGGCGAG -3'
(R):5'- CCTCAGCAGCCTCAGTTATC -3'
Sequencing Primer
(F):5'- AACACGCTCCTTAGGCCTG -3'
(R):5'- TCAGTTATCGCAGCAGCAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation