Incidental Mutation 'IGL01871:Gmppa'
| ID |
178713 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmppa
|
| Ensembl Gene |
ENSMUSG00000033021 |
| Gene Name |
GDP-mannose pyrophosphorylase A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.492)
|
| Stock # |
IGL01871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75435930-75443179 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75437017 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 41
(I41V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037796]
[ENSMUST00000087122]
[ENSMUST00000113584]
[ENSMUST00000131545]
[ENSMUST00000133418]
[ENSMUST00000140287]
[ENSMUST00000141124]
[ENSMUST00000143730]
[ENSMUST00000144874]
[ENSMUST00000145166]
[ENSMUST00000188097]
|
| AlphaFold |
Q922H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037796
AA Change: I41V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: I41V
| 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: ENSMUST00000087122
|
| SMART Domains |
Protein: ENSMUSP00000084361
Gene: ENSMUSG00000026207
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
51 |
128 |
1.48e-6 |
SMART |
|
low complexity region
|
292 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
IGc2
|
739 |
806 |
2.19e-9 |
SMART |
|
Pfam:SPEG_u2
|
817 |
873 |
2.4e-36 |
PFAM |
|
IGc2
|
886 |
954 |
4.03e-8 |
SMART |
|
IG
|
979 |
1064 |
1.05e-6 |
SMART |
|
IGc2
|
1081 |
1148 |
2.19e-9 |
SMART |
|
IG
|
1199 |
1283 |
6.87e-2 |
SMART |
|
FN3
|
1287 |
1373 |
1.38e-4 |
SMART |
|
IG
|
1401 |
1487 |
2.64e-3 |
SMART |
|
IGc2
|
1502 |
1569 |
1.12e-6 |
SMART |
|
STYKc
|
1606 |
1859 |
8.44e-63 |
SMART |
|
Blast:STYKc
|
1861 |
1895 |
6e-12 |
BLAST |
|
low complexity region
|
1918 |
1939 |
N/A |
INTRINSIC |
|
low complexity region
|
2069 |
2081 |
N/A |
INTRINSIC |
|
low complexity region
|
2208 |
2227 |
N/A |
INTRINSIC |
|
low complexity region
|
2230 |
2249 |
N/A |
INTRINSIC |
|
low complexity region
|
2255 |
2269 |
N/A |
INTRINSIC |
|
low complexity region
|
2343 |
2366 |
N/A |
INTRINSIC |
|
low complexity region
|
2410 |
2422 |
N/A |
INTRINSIC |
|
low complexity region
|
2433 |
2451 |
N/A |
INTRINSIC |
|
low complexity region
|
2457 |
2487 |
N/A |
INTRINSIC |
|
low complexity region
|
2524 |
2544 |
N/A |
INTRINSIC |
|
IGc2
|
2599 |
2667 |
2.05e-9 |
SMART |
|
FN3
|
2681 |
2760 |
2.5e-2 |
SMART |
|
low complexity region
|
2775 |
2789 |
N/A |
INTRINSIC |
|
low complexity region
|
2802 |
2831 |
N/A |
INTRINSIC |
|
low complexity region
|
2912 |
2927 |
N/A |
INTRINSIC |
|
STYKc
|
2961 |
3213 |
4.42e-66 |
SMART |
|
low complexity region
|
3241 |
3250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113584
AA Change: I41V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: I41V
| 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 |
possibly damaging
Transcript: ENSMUST00000131545
AA Change: I41V
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021
AA Change: I41V
| 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 |
possibly damaging
Transcript: ENSMUST00000133418
AA Change: I41V
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021
AA Change: I41V
| 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 benign
Transcript: ENSMUST00000137868
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140287
AA Change: I41V
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021
AA Change: I41V
| 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
AA Change: I41V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116783
Gene: ENSMUSG00000033021
AA Change: I41V
| 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 |
possibly damaging
Transcript: ENSMUST00000143730
AA Change: I41V
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021
AA Change: I41V
| 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 |
possibly damaging
Transcript: ENSMUST00000144874
AA Change: I6V
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021
AA Change: I6V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
1 |
174 |
6.6e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145166
AA Change: I41V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116754
Gene: ENSMUSG00000033021
AA Change: I41V
| 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: I26V
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021
AA Change: I26V
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,472,394 |
|
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 |
R20* |
probably null |
Het |
| Asxl2 |
G |
T |
12: 3,502,112 |
V1285L |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,066,053 |
S688T |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,688,969 |
I357F |
probably damaging |
Het |
| Clasp1 |
A |
T |
1: 118,570,889 |
I884F |
probably damaging |
Het |
| Cpne4 |
T |
G |
9: 104,925,757 |
M200R |
possibly damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,403,885 |
D180V |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,704,180 |
V1042D |
probably damaging |
Het |
| Dlc1 |
G |
A |
8: 36,850,180 |
T447I |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,763,319 |
M972T |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 103,834,766 |
S781P |
probably damaging |
Het |
| Fam46b |
A |
G |
4: 133,486,309 |
I164V |
possibly damaging |
Het |
| Galnt4 |
G |
A |
10: 99,109,241 |
G276D |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 |
Y194F |
probably benign |
Het |
| Golga1 |
C |
T |
2: 39,050,198 |
|
probably benign |
Het |
| H2-Ob |
G |
T |
17: 34,242,545 |
W86L |
probably damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,339,574 |
R482H |
unknown |
Het |
| L2hgdh |
T |
C |
12: 69,722,095 |
E81G |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,811,897 |
V389A |
possibly damaging |
Het |
| Mxra8 |
A |
G |
4: 155,842,801 |
T372A |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,688,581 |
S593R |
probably benign |
Het |
| Ndufaf1 |
C |
T |
2: 119,658,287 |
W250* |
probably null |
Het |
| Neb |
T |
C |
2: 52,153,069 |
E6783G |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,312,674 |
Y175H |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,662,355 |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 72,056,138 |
M812L |
probably damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,134,473 |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,783,087 |
T2871A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,198,360 |
T392A |
possibly damaging |
Het |
| Rhov |
G |
T |
2: 119,270,738 |
Q71K |
probably benign |
Het |
| Slc22a15 |
T |
C |
3: 101,860,794 |
|
probably benign |
Het |
| Spaca1 |
T |
A |
4: 34,040,894 |
N22Y |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,289,713 |
E107G |
probably damaging |
Het |
| Timm22 |
T |
C |
11: 76,407,437 |
V78A |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 112,077,786 |
|
probably benign |
Het |
| Utp4 |
A |
C |
8: 106,912,317 |
K419T |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,325,791 |
|
probably null |
Het |
|
| Other mutations in Gmppa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02418:Gmppa
|
APN |
1 |
75439020 |
missense |
probably damaging |
1.00 |
|
IGL02899:Gmppa
|
APN |
1 |
75441830 |
splice site |
probably null |
|
|
IGL03009:Gmppa
|
APN |
1 |
75439370 |
missense |
probably damaging |
1.00 |
|
PIT4151001:Gmppa
|
UTSW |
1 |
75441824 |
nonsense |
probably null |
|
|
R0708:Gmppa
|
UTSW |
1 |
75442574 |
missense |
probably damaging |
1.00 |
|
R1352:Gmppa
|
UTSW |
1 |
75440534 |
missense |
probably benign |
0.00 |
|
R1886:Gmppa
|
UTSW |
1 |
75442508 |
missense |
probably damaging |
1.00 |
|
R2000:Gmppa
|
UTSW |
1 |
75441528 |
missense |
probably damaging |
1.00 |
|
R3053:Gmppa
|
UTSW |
1 |
75441756 |
missense |
probably benign |
0.04 |
|
R4301:Gmppa
|
UTSW |
1 |
75442496 |
missense |
possibly damaging |
0.77 |
|
R5054:Gmppa
|
UTSW |
1 |
75439371 |
nonsense |
probably null |
|
|
R5791:Gmppa
|
UTSW |
1 |
75442255 |
missense |
possibly damaging |
0.58 |
|
R6801:Gmppa
|
UTSW |
1 |
75441747 |
missense |
possibly damaging |
0.94 |
|
R7806:Gmppa
|
UTSW |
1 |
75438937 |
missense |
probably damaging |
1.00 |
|
R8105:Gmppa
|
UTSW |
1 |
75436997 |
missense |
possibly damaging |
0.82 |
|
R8747:Gmppa
|
UTSW |
1 |
75439381 |
missense |
probably damaging |
0.97 |
|
R8878:Gmppa
|
UTSW |
1 |
75438288 |
missense |
probably damaging |
1.00 |
|
R9491:Gmppa
|
UTSW |
1 |
75438958 |
missense |
probably damaging |
0.98 |
|
R9541:Gmppa
|
UTSW |
1 |
75440450 |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation