Incidental Mutation 'R9491:Gmppa'
| ID |
716913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmppa
|
| Ensembl Gene |
ENSMUSG00000033021 |
| Gene Name |
GDP-mannose pyrophosphorylase A |
| Synonyms |
1810012N01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R9491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75415602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 120
(D120G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000140287]
[ENSMUST00000141124]
[ENSMUST00000143730]
[ENSMUST00000144874]
[ENSMUST00000145166]
[ENSMUST00000188097]
|
| AlphaFold |
Q922H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037796
AA Change: D120G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: D120G
| 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 damaging
Transcript: ENSMUST00000113584
AA Change: D120G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: D120G
| 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 damaging
Transcript: ENSMUST00000131545
AA Change: D120G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021
AA Change: D120G
| 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 |
probably damaging
Transcript: ENSMUST00000133418
AA Change: D120G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021
AA Change: D120G
| 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 |
probably damaging
Transcript: ENSMUST00000140287
AA Change: D120G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021
AA Change: D120G
| 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: 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 damaging
Transcript: ENSMUST00000143730
AA Change: D120G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021
AA Change: D120G
| 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 damaging
Transcript: ENSMUST00000144874
AA Change: D85G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021
AA Change: D85G
| 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 |
possibly damaging
Transcript: ENSMUST00000188097
AA Change: D105G
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021
AA Change: D105G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
A |
9: 106,312,994 (GRCm39) |
T142I |
probably damaging |
Het |
| Adcy9 |
T |
C |
16: 4,236,052 (GRCm39) |
E453G |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,838,339 (GRCm39) |
|
probably null |
Het |
| Asmt |
G |
A |
X: 169,108,405 (GRCm39) |
G103D |
possibly damaging |
Het |
| Cap2 |
C |
T |
13: 46,791,366 (GRCm39) |
P290S |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,800,505 (GRCm39) |
|
probably null |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Clstn1 |
T |
C |
4: 149,731,929 (GRCm39) |
S950P |
probably damaging |
Het |
| Cluap1 |
G |
A |
16: 3,758,732 (GRCm39) |
R398Q |
probably benign |
Het |
| Cmbl |
G |
T |
15: 31,582,119 (GRCm39) |
V39L |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,877,369 (GRCm39) |
D536G |
probably benign |
Het |
| Ddx3y |
T |
A |
Y: 1,279,465 (GRCm39) |
D133V |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,156,907 (GRCm39) |
S525T |
probably benign |
Het |
| Eif2s2 |
T |
C |
2: 154,734,630 (GRCm39) |
|
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gadd45a |
A |
T |
6: 67,012,730 (GRCm39) |
D137E |
probably benign |
Het |
| Gpr156 |
A |
T |
16: 37,825,704 (GRCm39) |
R640S |
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,746,995 (GRCm39) |
M414K |
|
Het |
| Gtse1 |
C |
T |
15: 85,755,734 (GRCm39) |
P466L |
probably damaging |
Het |
| H6pd |
T |
A |
4: 150,080,366 (GRCm39) |
N160Y |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,452,981 (GRCm39) |
L496R |
probably damaging |
Het |
| Hnrnpk |
G |
T |
13: 58,541,050 (GRCm39) |
Q441K |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,854,141 (GRCm39) |
K637E |
unknown |
Het |
| Irgc |
C |
T |
7: 24,132,349 (GRCm39) |
R156H |
probably benign |
Het |
| Kazn |
C |
T |
4: 141,845,436 (GRCm39) |
A383T |
|
Het |
| Lmln |
A |
G |
16: 32,890,358 (GRCm39) |
E169G |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,852 (GRCm39) |
C326* |
probably null |
Het |
| Ncoa1 |
T |
A |
12: 4,340,912 (GRCm39) |
D840V |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,300,875 (GRCm39) |
D81G |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,606 (GRCm39) |
T140A |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,278,971 (GRCm39) |
V33A |
possibly damaging |
Het |
| Parp4 |
G |
A |
14: 56,832,828 (GRCm39) |
E384K |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,895 (GRCm39) |
L430H |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,056 (GRCm39) |
Y861C |
probably damaging |
Het |
| Pheta1 |
G |
A |
5: 121,991,051 (GRCm39) |
A138T |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,772,359 (GRCm39) |
Y337F |
probably benign |
Het |
| Prcc |
A |
G |
3: 87,774,671 (GRCm39) |
V377A |
probably benign |
Het |
| Prrg2 |
T |
A |
7: 44,706,218 (GRCm39) |
Y133F |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,733,813 (GRCm39) |
V901A |
probably damaging |
Het |
| Rgl1 |
A |
G |
1: 152,424,869 (GRCm39) |
L335P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,037,835 (GRCm39) |
M1440K |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,667,020 (GRCm39) |
|
probably null |
Het |
| Tbpl2 |
T |
C |
2: 23,986,532 (GRCm39) |
I6V |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,188,689 (GRCm39) |
H516L |
|
Het |
| Tmem8b |
C |
T |
4: 43,673,938 (GRCm39) |
R190C |
probably damaging |
Het |
| Tpmt |
A |
T |
13: 47,180,752 (GRCm39) |
S196T |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,472 (GRCm39) |
N478S |
unknown |
Het |
| Vstm5 |
T |
G |
9: 15,168,586 (GRCm39) |
I50S |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,616 (GRCm39) |
C285* |
probably null |
Het |
| Zdhhc23 |
A |
C |
16: 43,794,062 (GRCm39) |
V204G |
probably benign |
Het |
| Zfp653 |
T |
A |
9: 21,969,622 (GRCm39) |
K215* |
probably null |
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 |
|
|
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 |
|
R9541:Gmppa
|
UTSW |
1 |
75,417,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCGGTTTCCTTGCAGAC -3'
(R):5'- GACACCTCTGTAACTGCTGGAG -3'
Sequencing Primer
(F):5'- TTTCCTTGCAGACCCAGGG -3'
(R):5'- TGGAGTAGCACATCTCCCTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation