Incidental Mutation 'IGL02899:Gmppa'
ID |
363530 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gmppa
|
Ensembl Gene |
ENSMUSG00000033021 |
Gene Name |
GDP-mannose pyrophosphorylase A |
Synonyms |
1810012N01Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.452)
|
Stock # |
IGL02899
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 75418474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000037796]
[ENSMUST00000113584]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000188097]
[ENSMUST00000143730]
[ENSMUST00000145166]
[ENSMUST00000141124]
[ENSMUST00000140287]
[ENSMUST00000144874]
|
AlphaFold |
Q922H4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037796
|
SMART Domains |
Protein: ENSMUSP00000035564 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
209 |
1.2e-30 |
PFAM |
Pfam:NTP_transf_3
|
4 |
206 |
4.1e-10 |
PFAM |
Pfam:Hexapep
|
280 |
321 |
2.6e-8 |
PFAM |
low complexity region
|
357 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000037796
|
SMART Domains |
Protein: ENSMUSP00000035564 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
209 |
1.2e-30 |
PFAM |
Pfam:NTP_transf_3
|
4 |
206 |
4.1e-10 |
PFAM |
Pfam:Hexapep
|
280 |
321 |
2.6e-8 |
PFAM |
low complexity region
|
357 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113584
|
SMART Domains |
Protein: ENSMUSP00000109214 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
209 |
1.6e-28 |
PFAM |
Pfam:NTP_transf_3
|
4 |
206 |
1.6e-9 |
PFAM |
Pfam:Hexapep
|
286 |
321 |
4.3e-8 |
PFAM |
low complexity region
|
357 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113584
|
SMART Domains |
Protein: ENSMUSP00000109214 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
209 |
1.6e-28 |
PFAM |
Pfam:NTP_transf_3
|
4 |
206 |
1.6e-9 |
PFAM |
Pfam:Hexapep
|
286 |
321 |
4.3e-8 |
PFAM |
low complexity region
|
357 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124539
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131545
|
SMART Domains |
Protein: ENSMUSP00000120841 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
209 |
7.2e-31 |
PFAM |
Pfam:NTP_transf_3
|
4 |
157 |
1.7e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132291
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133418
|
SMART Domains |
Protein: ENSMUSP00000122443 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
209 |
6.8e-31 |
PFAM |
Pfam:NTP_transf_3
|
4 |
204 |
1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135453
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188097
|
SMART Domains |
Protein: ENSMUSP00000139936 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
1 |
150 |
2.3e-15 |
PFAM |
Pfam:NTP_transf_3
|
2 |
142 |
9.8e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143730
|
SMART Domains |
Protein: ENSMUSP00000114375 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
196 |
1.1e-30 |
PFAM |
Pfam:NTP_transf_3
|
4 |
173 |
9.2e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145166
|
SMART Domains |
Protein: ENSMUSP00000116754 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
91 |
5.2e-15 |
PFAM |
Pfam:NTP_transf_3
|
4 |
88 |
1.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141124
|
SMART Domains |
Protein: ENSMUSP00000116783 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
72 |
1.1e-13 |
PFAM |
Pfam:NTP_transf_3
|
4 |
71 |
1.9e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140287
|
SMART Domains |
Protein: ENSMUSP00000121552 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
3 |
161 |
1.7e-22 |
PFAM |
Pfam:NTP_transf_3
|
4 |
155 |
6.1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144874
|
SMART Domains |
Protein: ENSMUSP00000121418 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
1 |
174 |
6.6e-19 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
A |
G |
2: 166,710,971 (GRCm39) |
|
probably benign |
Het |
Btbd7 |
A |
G |
12: 102,803,921 (GRCm39) |
L373P |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccdc186 |
A |
T |
19: 56,781,920 (GRCm39) |
I753N |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,662,716 (GRCm39) |
T156I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,915,927 (GRCm39) |
M682T |
probably damaging |
Het |
Cep97 |
C |
A |
16: 55,738,903 (GRCm39) |
S267I |
probably damaging |
Het |
Dhx35 |
A |
G |
2: 158,643,370 (GRCm39) |
Y39C |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,510,447 (GRCm39) |
D937E |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,043,562 (GRCm39) |
Y202H |
probably damaging |
Het |
Fyco1 |
T |
C |
9: 123,659,396 (GRCm39) |
N260S |
possibly damaging |
Het |
Gm5591 |
A |
G |
7: 38,218,842 (GRCm39) |
L677P |
probably damaging |
Het |
Hltf |
C |
T |
3: 20,153,981 (GRCm39) |
T639I |
probably damaging |
Het |
Inhca |
C |
A |
9: 103,154,773 (GRCm39) |
V173L |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,066,612 (GRCm39) |
Y321C |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,748,598 (GRCm39) |
G45R |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,179,547 (GRCm39) |
D1538G |
probably benign |
Het |
Maf1 |
T |
A |
15: 76,237,220 (GRCm39) |
|
probably benign |
Het |
Morn5 |
T |
C |
2: 35,945,049 (GRCm39) |
F91S |
probably damaging |
Het |
Ncan |
C |
T |
8: 70,567,698 (GRCm39) |
R138H |
possibly damaging |
Het |
Or10ak7 |
A |
T |
4: 118,791,859 (GRCm39) |
M62K |
probably damaging |
Het |
Or5ac21 |
G |
T |
16: 59,123,649 (GRCm39) |
L44F |
probably damaging |
Het |
Parg |
T |
C |
14: 31,960,531 (GRCm39) |
L82S |
probably damaging |
Het |
Ppp2r2b |
A |
T |
18: 42,778,874 (GRCm39) |
H417Q |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,334,807 (GRCm39) |
L98P |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,748,220 (GRCm39) |
V3752L |
possibly damaging |
Het |
Slc25a12 |
A |
G |
2: 71,109,979 (GRCm39) |
L489P |
probably damaging |
Het |
Slc38a8 |
C |
T |
8: 120,212,282 (GRCm39) |
V354M |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,930,459 (GRCm39) |
E512G |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,180,583 (GRCm39) |
M597T |
probably damaging |
Het |
Tgfb3 |
G |
A |
12: 86,116,550 (GRCm39) |
R163C |
probably damaging |
Het |
Tmco5b |
A |
G |
2: 113,127,265 (GRCm39) |
M279V |
probably benign |
Het |
Ttll9 |
G |
A |
2: 152,844,871 (GRCm39) |
G413D |
probably damaging |
Het |
Tut1 |
A |
G |
19: 8,939,751 (GRCm39) |
D245G |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,041,589 (GRCm39) |
V2023E |
probably damaging |
Het |
Vps33a |
C |
T |
5: 123,669,239 (GRCm39) |
G554D |
probably damaging |
Het |
Zfp27 |
C |
A |
7: 29,595,680 (GRCm39) |
R95M |
possibly damaging |
Het |
|
Other mutations in Gmppa |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01871:Gmppa
|
APN |
1 |
75,413,661 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02418:Gmppa
|
APN |
1 |
75,415,664 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03009:Gmppa
|
APN |
1 |
75,416,014 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4151001:Gmppa
|
UTSW |
1 |
75,418,468 (GRCm39) |
nonsense |
probably null |
|
R0708:Gmppa
|
UTSW |
1 |
75,419,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R1352:Gmppa
|
UTSW |
1 |
75,417,178 (GRCm39) |
missense |
probably benign |
0.00 |
R1886:Gmppa
|
UTSW |
1 |
75,419,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R2000:Gmppa
|
UTSW |
1 |
75,418,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R3053:Gmppa
|
UTSW |
1 |
75,418,400 (GRCm39) |
missense |
probably benign |
0.04 |
R4301:Gmppa
|
UTSW |
1 |
75,419,140 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5054:Gmppa
|
UTSW |
1 |
75,416,015 (GRCm39) |
nonsense |
probably null |
|
R5791:Gmppa
|
UTSW |
1 |
75,418,899 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6801:Gmppa
|
UTSW |
1 |
75,418,391 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7806:Gmppa
|
UTSW |
1 |
75,415,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R8105:Gmppa
|
UTSW |
1 |
75,413,641 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8747:Gmppa
|
UTSW |
1 |
75,416,025 (GRCm39) |
missense |
probably damaging |
0.97 |
R8878:Gmppa
|
UTSW |
1 |
75,414,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R9491:Gmppa
|
UTSW |
1 |
75,415,602 (GRCm39) |
missense |
probably damaging |
0.98 |
R9541:Gmppa
|
UTSW |
1 |
75,417,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-12-18 |