Incidental Mutation 'IGL02934:Nipal1'
ID 364223
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipal1
Ensembl Gene ENSMUSG00000067219
Gene Name NIPA-like domain containing 1
Synonyms Npal1, 3830408G10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL02934
Quality Score
Status
Chromosome 5
Chromosomal Location 72805139-72828421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72805250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 7 (L7P)
Ref Sequence ENSEMBL: ENSMUSP00000143667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087212] [ENSMUST00000197837]
AlphaFold Q8BMW7
Predicted Effect probably damaging
Transcript: ENSMUST00000087212
AA Change: L7P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: L7P

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 66 360 6e-136 PFAM
Pfam:EamA 107 186 1.6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197772
Predicted Effect probably damaging
Transcript: ENSMUST00000197837
AA Change: L7P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
AA Change: L7P

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 3 96 2.1e-45 PFAM
Pfam:EamA 17 96 2.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202230
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cachd1 C T 4: 100,825,295 (GRCm39) S583L probably damaging Het
Cbfa2t3 T C 8: 123,374,497 (GRCm39) T48A probably benign Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Cyp4f13 A G 17: 33,148,845 (GRCm39) V300A probably damaging Het
Dkk3 A T 7: 111,749,954 (GRCm39) M72K probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Manba T C 3: 135,250,510 (GRCm39) V379A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Mff G A 1: 82,724,815 (GRCm39) R229H probably damaging Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Stard6 T A 18: 70,629,175 (GRCm39) probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Nipal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Nipal1 APN 5 72,816,067 (GRCm39) missense probably benign
IGL01894:Nipal1 APN 5 72,820,882 (GRCm39) missense probably benign 0.02
IGL01962:Nipal1 APN 5 72,825,401 (GRCm39) missense possibly damaging 0.50
IGL02145:Nipal1 APN 5 72,824,274 (GRCm39) missense probably damaging 1.00
IGL02902:Nipal1 APN 5 72,825,405 (GRCm39) missense possibly damaging 0.49
IGL03024:Nipal1 APN 5 72,820,968 (GRCm39) critical splice donor site probably null
IGL03237:Nipal1 APN 5 72,824,150 (GRCm39) missense probably damaging 0.99
R0848:Nipal1 UTSW 5 72,825,183 (GRCm39) missense probably damaging 0.99
R1024:Nipal1 UTSW 5 72,825,334 (GRCm39) frame shift probably null
R2106:Nipal1 UTSW 5 72,820,902 (GRCm39) missense probably damaging 0.99
R2883:Nipal1 UTSW 5 72,825,073 (GRCm39) missense probably damaging 1.00
R2932:Nipal1 UTSW 5 72,824,978 (GRCm39) missense possibly damaging 0.46
R5364:Nipal1 UTSW 5 72,825,243 (GRCm39) missense probably damaging 1.00
R6175:Nipal1 UTSW 5 72,820,898 (GRCm39) missense probably damaging 1.00
R6523:Nipal1 UTSW 5 72,824,951 (GRCm39) missense probably damaging 0.97
R7185:Nipal1 UTSW 5 72,824,198 (GRCm39) missense probably damaging 0.98
R7436:Nipal1 UTSW 5 72,824,984 (GRCm39) missense probably benign 0.00
R9388:Nipal1 UTSW 5 72,825,557 (GRCm39) makesense probably null
RF011:Nipal1 UTSW 5 72,824,156 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18