Incidental Mutation 'R4301:Gmppa'
ID |
322400 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmppa
|
Ensembl Gene |
ENSMUSG00000033021 |
Gene Name |
GDP-mannose pyrophosphorylase A |
Synonyms |
1810012N01Rik |
MMRRC Submission |
041088-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.452)
|
Stock # |
R4301 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 75419140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 349
(R349H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000143730]
[ENSMUST00000188097]
[ENSMUST00000141124]
[ENSMUST00000144874]
[ENSMUST00000145166]
[ENSMUST00000140287]
|
AlphaFold |
Q922H4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037796
AA Change: R349H
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000035564 Gene: ENSMUSG00000033021 AA Change: R349H
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: R349H
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109214 Gene: ENSMUSG00000033021 AA Change: R349H
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: 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: 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: ENSMUST00000144874
|
SMART Domains |
Protein: ENSMUSP00000121418 Gene: ENSMUSG00000033021
Domain | Start | End | E-Value | Type |
Pfam:NTP_transferase
|
1 |
174 |
6.6e-19 |
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: 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 |
|
Meta Mutation Damage Score |
0.0715 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
Adamtsl2 |
A |
G |
2: 26,977,295 (GRCm39) |
D252G |
probably null |
Het |
Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
Atxn7l1 |
A |
G |
12: 33,417,237 (GRCm39) |
D562G |
probably damaging |
Het |
Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
Fer |
G |
T |
17: 64,385,905 (GRCm39) |
L292F |
probably damaging |
Het |
Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
Ppat |
G |
T |
5: 77,076,348 (GRCm39) |
|
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
Prickle1 |
T |
C |
15: 93,406,517 (GRCm39) |
I169V |
possibly damaging |
Het |
Rab37 |
T |
A |
11: 115,049,390 (GRCm39) |
D95E |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
Vldlr |
C |
A |
19: 27,215,802 (GRCm39) |
D266E |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
Zfr2 |
T |
C |
10: 81,078,018 (GRCm39) |
|
probably benign |
Het |
Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCCACTTTGCAGGTAGGAAC -3'
(R):5'- TGTGGAGCTTGCTAACCCTC -3'
Sequencing Primer
(F):5'- GTAGGAACCAGGCACACAGC -3'
(R):5'- GCTTGCTAACCCTCAACCCG -3'
|
Posted On |
2015-06-20 |