Incidental Mutation 'IGL01962:Nipal1'
ID 182426
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 # IGL01962
Quality Score
Status
Chromosome 5
Chromosomal Location 72805139-72828421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72825401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 365 (S365G)
Ref Sequence ENSEMBL: ENSMUSP00000084462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087212] [ENSMUST00000197837]
AlphaFold Q8BMW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000087212
AA Change: S365G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: S365G

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 66 360 6e-136 PFAM
Pfam:EamA 107 186 1.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197837
SMART Domains Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 3 96 2.1e-45 PFAM
Pfam:EamA 17 96 2.8e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,324,514 (GRCm39) F253S probably benign Het
AI429214 T A 8: 37,461,383 (GRCm39) I177N probably damaging Het
Astn1 C A 1: 158,496,201 (GRCm39) T1077K probably damaging Het
Asxl3 A T 18: 22,655,502 (GRCm39) I1171L probably benign Het
Cdca2 A T 14: 67,943,172 (GRCm39) S206T probably damaging Het
Chd3 T C 11: 69,248,319 (GRCm39) M858V possibly damaging Het
Cyp2j12 C T 4: 95,987,999 (GRCm39) A464T probably benign Het
Fryl A T 5: 73,190,134 (GRCm39) D2787E possibly damaging Het
Hmx3 G A 7: 131,146,000 (GRCm39) R236H probably damaging Het
Il1rap T A 16: 26,529,318 (GRCm39) C330* probably null Het
Klrc1 A T 6: 129,655,865 (GRCm39) N3K probably damaging Het
Nars1 A G 18: 64,643,554 (GRCm39) F142L probably benign Het
Or1n1 T A 2: 36,749,787 (GRCm39) H191L probably benign Het
Or2ag15 G A 7: 106,340,991 (GRCm39) T50I probably benign Het
Or51s1 T G 7: 102,559,054 (GRCm39) probably benign Het
Or8k17 C A 2: 86,066,456 (GRCm39) R234M probably damaging Het
Pcdhb4 A G 18: 37,442,057 (GRCm39) T456A possibly damaging Het
Pcdhb5 G A 18: 37,454,093 (GRCm39) D158N probably damaging Het
Pcsk2 C T 2: 143,655,552 (GRCm39) Q579* probably null Het
Phactr4 G A 4: 132,091,086 (GRCm39) R577W probably damaging Het
Rbms3 T C 9: 116,524,879 (GRCm39) probably benign Het
Rxfp1 T G 3: 79,594,175 (GRCm39) D73A probably damaging Het
Scmh1 A T 4: 120,340,781 (GRCm39) probably benign Het
Syk T G 13: 52,764,993 (GRCm39) L40R probably damaging Het
Tcn2 T C 11: 3,875,072 (GRCm39) N153S probably benign Het
Tnks A G 8: 35,336,678 (GRCm39) L502P probably damaging Het
Vmn2r111 A G 17: 22,767,265 (GRCm39) V744A possibly damaging 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
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
IGL02934:Nipal1 APN 5 72,805,250 (GRCm39) missense probably damaging 1.00
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 2014-05-07