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 |
1810012N01Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.452)
|
Stock # |
IGL01871
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75412574-75419823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75413661 bp (GRCm39)
|
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]
[ENSMUST00000143730]
[ENSMUST00000188097]
[ENSMUST00000144874]
[ENSMUST00000140287]
[ENSMUST00000145166]
[ENSMUST00000141124]
|
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 |
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: 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 |
|
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 |
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: 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 |
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 |
probably benign
Transcript: ENSMUST00000137868
|
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: 81,620,513 (GRCm39) |
|
probably null |
Het |
Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,412,527 (GRCm39) |
M972T |
possibly damaging |
Het |
Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
Galnt4 |
G |
A |
10: 98,945,103 (GRCm39) |
G276D |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
H2-Ob |
G |
T |
17: 34,461,519 (GRCm39) |
W86L |
probably damaging |
Het |
Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,723,193 (GRCm39) |
V389A |
possibly damaging |
Het |
Mxra8 |
A |
G |
4: 155,927,258 (GRCm39) |
T372A |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
Nmt2 |
T |
C |
2: 3,313,711 (GRCm39) |
Y175H |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
Timm22 |
T |
C |
11: 76,298,263 (GRCm39) |
V78A |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Gmppa |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-05-07 |