Incidental Mutation 'R5791:Gmppa'
ID |
446955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmppa
|
Ensembl Gene |
ENSMUSG00000033021 |
Gene Name |
GDP-mannose pyrophosphorylase A |
Synonyms |
1810012N01Rik |
MMRRC Submission |
043207-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.452)
|
Stock # |
R5791 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75418899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 324
(V324A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000145166]
[ENSMUST00000188097]
[ENSMUST00000141124]
[ENSMUST00000140287]
[ENSMUST00000143730]
[ENSMUST00000144874]
|
AlphaFold |
Q922H4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037796
AA Change: V324A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000035564 Gene: ENSMUSG00000033021 AA Change: V324A
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 |
possibly damaging
Transcript: ENSMUST00000113584
AA Change: V324A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109214 Gene: ENSMUSG00000033021 AA Change: V324A
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: 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: 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: 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: 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: 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
C |
8: 41,207,257 (GRCm39) |
Q174H |
probably benign |
Het |
Adipor2 |
A |
T |
6: 119,338,866 (GRCm39) |
M129K |
possibly damaging |
Het |
Arhgap29 |
T |
A |
3: 121,807,894 (GRCm39) |
M616K |
probably damaging |
Het |
Calcrl |
A |
T |
2: 84,181,609 (GRCm39) |
F180I |
probably damaging |
Het |
Cdh4 |
T |
C |
2: 179,537,560 (GRCm39) |
V864A |
probably damaging |
Het |
Cep78 |
A |
G |
19: 15,938,436 (GRCm39) |
F504S |
probably benign |
Het |
Coasy |
A |
G |
11: 100,975,211 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,530,696 (GRCm39) |
N751S |
probably benign |
Het |
Ecpas |
C |
T |
4: 58,814,027 (GRCm39) |
E1360K |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,822,111 (GRCm39) |
D1152V |
probably damaging |
Het |
Eea1 |
T |
A |
10: 95,855,857 (GRCm39) |
N631K |
probably benign |
Het |
Fam149b |
A |
G |
14: 20,401,394 (GRCm39) |
K27R |
probably damaging |
Het |
Fbxw26 |
A |
G |
9: 109,574,221 (GRCm39) |
W42R |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,520,217 (GRCm39) |
|
probably null |
Het |
Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gstm2 |
C |
T |
3: 107,891,444 (GRCm39) |
|
probably null |
Het |
Kcng3 |
A |
G |
17: 83,895,639 (GRCm39) |
S276P |
probably benign |
Het |
Lrrd1 |
T |
C |
5: 3,901,254 (GRCm39) |
S520P |
probably benign |
Het |
Lrrn2 |
A |
G |
1: 132,865,505 (GRCm39) |
N190S |
probably benign |
Het |
Lrwd1 |
G |
C |
5: 136,159,887 (GRCm39) |
A392G |
probably benign |
Het |
Mab21l2 |
A |
G |
3: 86,454,044 (GRCm39) |
Y319H |
probably damaging |
Het |
Ndufv3 |
A |
G |
17: 31,746,382 (GRCm39) |
N91D |
probably benign |
Het |
Nfatc2 |
T |
A |
2: 168,378,313 (GRCm39) |
M451L |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,918,030 (GRCm39) |
S72T |
probably damaging |
Het |
Pcdhgb2 |
G |
T |
18: 37,825,393 (GRCm39) |
V795F |
possibly damaging |
Het |
Pdcd11 |
T |
A |
19: 47,099,430 (GRCm39) |
M843K |
possibly damaging |
Het |
Pla2g4c |
T |
A |
7: 13,073,617 (GRCm39) |
N221K |
probably benign |
Het |
Ppox |
T |
C |
1: 171,104,885 (GRCm39) |
Y422C |
probably damaging |
Het |
Retreg3 |
A |
G |
11: 100,991,769 (GRCm39) |
S55P |
probably damaging |
Het |
Rnf103 |
C |
A |
6: 71,485,909 (GRCm39) |
T180K |
probably damaging |
Het |
Tbl3 |
A |
T |
17: 24,923,408 (GRCm39) |
L307H |
probably damaging |
Het |
Tex26 |
A |
T |
5: 149,363,240 (GRCm39) |
|
probably null |
Het |
Tln2 |
A |
T |
9: 67,293,887 (GRCm39) |
I247K |
probably damaging |
Het |
Txlnb |
T |
C |
10: 17,674,876 (GRCm39) |
S10P |
probably benign |
Het |
Vwde |
C |
A |
6: 13,195,985 (GRCm39) |
E347* |
probably null |
Het |
Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
Zfp14 |
A |
G |
7: 29,737,687 (GRCm39) |
S433P |
probably damaging |
Het |
Zfp647 |
G |
T |
15: 76,802,206 (GRCm39) |
A2E |
unknown |
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 |
IGL02899:Gmppa
|
APN |
1 |
75,418,474 (GRCm39) |
splice site |
probably null |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAGCTGTGGCCCCAACTTC -3'
(R):5'- CCTGTTGGGATAGAATGGCTCAG -3'
Sequencing Primer
(F):5'- CAACTTCAGGGAGAGGCTGTTG -3'
(R):5'- ATGGCTCAGGGTGAGTGGAC -3'
|
Posted On |
2016-12-15 |