Incidental Mutation 'IGL02418:Gmppa'
| ID |
292546 |
| 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 # |
IGL02418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75415664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 126
(G126C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000143730]
[ENSMUST00000144874]
[ENSMUST00000188097]
[ENSMUST00000140287]
[ENSMUST00000141124]
[ENSMUST00000145166]
|
| AlphaFold |
Q922H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037796
AA Change: G141C
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: G141C
| 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 benign
Transcript: ENSMUST00000113584
AA Change: G141C
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: G141C
| 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 damaging
Transcript: ENSMUST00000131545
AA Change: G141C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021
AA Change: G141C
| 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 damaging
Transcript: ENSMUST00000133418
AA Change: G141C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021
AA Change: G141C
| 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 damaging
Transcript: ENSMUST00000143730
AA Change: G141C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021
AA Change: G141C
| 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: G106C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021
AA Change: G106C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
1 |
174 |
6.6e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188097
AA Change: G126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021
AA Change: G126C
| 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: ENSMUST00000140287
AA Change: G141C
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021
AA Change: G141C
| 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 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,424,479 (GRCm39) |
|
probably benign |
Het |
| Acsbg2 |
A |
G |
17: 57,156,730 (GRCm39) |
V436A |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,885,648 (GRCm39) |
D156G |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,885,711 (GRCm39) |
R489C |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,490,620 (GRCm39) |
|
probably benign |
Het |
| Bbs5 |
T |
G |
2: 69,485,849 (GRCm39) |
*89G |
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,493,359 (GRCm39) |
Y794F |
possibly damaging |
Het |
| Ces3b |
T |
C |
8: 105,812,279 (GRCm39) |
V176A |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,642,461 (GRCm39) |
H105R |
probably benign |
Het |
| Chat |
C |
T |
14: 32,168,906 (GRCm39) |
V210I |
possibly damaging |
Het |
| Chd1l |
A |
G |
3: 97,488,415 (GRCm39) |
S534P |
probably benign |
Het |
| Cyb5rl |
T |
C |
4: 106,928,182 (GRCm39) |
L106P |
probably damaging |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,162 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,495,679 (GRCm39) |
C1436R |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,361 (GRCm39) |
F130I |
probably benign |
Het |
| Fryl |
T |
A |
5: 73,267,519 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,671,994 (GRCm39) |
V428A |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,888,433 (GRCm39) |
D496G |
probably null |
Het |
| Gapvd1 |
T |
C |
2: 34,620,530 (GRCm39) |
T44A |
probably benign |
Het |
| Gm17093 |
T |
A |
14: 44,758,185 (GRCm39) |
M122K |
unknown |
Het |
| Gm5356 |
A |
T |
8: 89,914,064 (GRCm39) |
|
noncoding transcript |
Het |
| Il23r |
T |
C |
6: 67,467,656 (GRCm39) |
H37R |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,914 (GRCm39) |
I349V |
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,100,533 (GRCm39) |
Y159* |
probably null |
Het |
| Naa16 |
C |
A |
14: 79,620,806 (GRCm39) |
R57L |
probably damaging |
Het |
| Ntmt2 |
A |
T |
1: 163,530,725 (GRCm39) |
V238E |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,787 (GRCm39) |
Y35C |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,454,200 (GRCm39) |
H21Q |
probably damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,284 (GRCm39) |
Y47C |
probably damaging |
Het |
| Paxbp1 |
A |
C |
16: 90,831,000 (GRCm39) |
C459G |
probably damaging |
Het |
| Pnp2 |
C |
T |
14: 51,201,293 (GRCm39) |
R222C |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,556,883 (GRCm39) |
D1652G |
probably damaging |
Het |
| Saxo5 |
T |
A |
8: 3,526,080 (GRCm39) |
F78I |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,075 (GRCm39) |
|
probably benign |
Het |
| Spata4 |
C |
A |
8: 55,062,978 (GRCm39) |
N294K |
probably benign |
Het |
| Tcp11l2 |
T |
A |
10: 84,449,470 (GRCm39) |
Y478* |
probably null |
Het |
| Tcte1 |
T |
A |
17: 45,852,128 (GRCm39) |
S454T |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 60,335,598 (GRCm39) |
V105I |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,829,765 (GRCm39) |
I200N |
probably benign |
Het |
| Tpgs1 |
G |
A |
10: 79,505,289 (GRCm39) |
V16M |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,797,447 (GRCm39) |
T539K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,293,557 (GRCm39) |
S2542G |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,864 (GRCm39) |
L343H |
probably damaging |
Het |
| Zmat2 |
T |
A |
18: 36,927,392 (GRCm39) |
Y21N |
probably damaging |
Het |
| Zyx |
C |
T |
6: 42,334,327 (GRCm39) |
A517V |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation