Incidental Mutation 'IGL01871:Gmppa'
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ID178713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmppa
Ensembl Gene ENSMUSG00000033021
Gene NameGDP-mannose pyrophosphorylase A
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.428) question?
Stock #IGL01871
Quality Score
Status
Chromosome1
Chromosomal Location75435930-75443179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75437017 bp
ZygosityHeterozygous
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] [ENSMUST00000188097] [ENSMUST00000145166]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:NTP_transferase 1 174 6.6e-19 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

DomainStartEndE-ValueType
Pfam:NTP_transferase 1 150 2.3e-15 PFAM
Pfam:NTP_transf_3 2 142 9.8e-7 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

DomainStartEndE-ValueType
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On2014-05-07