Incidental Mutation 'IGL02560:Nipal3'
ID 298204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipal3
Ensembl Gene ENSMUSG00000028803
Gene Name NIPA-like domain containing 3
Synonyms Npal3, 9130020G22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02560
Quality Score
Status
Chromosome 4
Chromosomal Location 135173454-135222283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135207015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 60 (Y60N)
Ref Sequence ENSEMBL: ENSMUSP00000118122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102549] [ENSMUST00000105856] [ENSMUST00000145020] [ENSMUST00000146617] [ENSMUST00000183807]
AlphaFold Q8BGN5
Predicted Effect probably damaging
Transcript: ENSMUST00000102549
AA Change: Y60N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099608
Gene: ENSMUSG00000028803
AA Change: Y60N

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 33 333 5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105856
AA Change: Y60N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101482
Gene: ENSMUSG00000028803
AA Change: Y60N

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:Mg_trans_NIPA 35 330 9.5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145020
AA Change: Y60N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118122
Gene: ENSMUSG00000028803
AA Change: Y60N

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 33 107 4.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146617
SMART Domains Protein: ENSMUSP00000121776
Gene: ENSMUSG00000028803

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
transmembrane domain 38 55 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183807
AA Change: Y60N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139088
Gene: ENSMUSG00000028803
AA Change: Y60N

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 33 333 3.8e-75 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit gender-dependent behavioral and immune system abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 C T 10: 88,814,603 (GRCm39) W660* probably null Het
Atp9b T C 18: 80,805,413 (GRCm39) D715G probably benign Het
Catsper1 T C 19: 5,386,216 (GRCm39) S150P possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn19 G A 4: 119,112,921 (GRCm39) W51* probably null Het
Ddx31 T C 2: 28,765,838 (GRCm39) I512T probably damaging Het
Dsc2 G T 18: 20,178,596 (GRCm39) D269E probably damaging Het
Dsg1b T C 18: 20,542,235 (GRCm39) V914A possibly damaging Het
Etl4 A G 2: 20,748,529 (GRCm39) E420G probably damaging Het
Foxa2 A G 2: 147,885,951 (GRCm39) L113P probably benign Het
Gm6034 T G 17: 36,367,356 (GRCm39) probably benign Het
Gtf3c4 A T 2: 28,724,279 (GRCm39) Y343* probably null Het
Hhip A T 8: 80,713,638 (GRCm39) Y563N probably damaging Het
Ighg2c A T 12: 113,251,504 (GRCm39) C208S unknown Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Myb A T 10: 21,028,347 (GRCm39) L172Q probably damaging Het
Npas2 A T 1: 39,373,042 (GRCm39) probably benign Het
Or5h26 G T 16: 58,987,891 (GRCm39) S205* probably null Het
Or8k16 T A 2: 85,519,863 (GRCm39) V30D possibly damaging Het
Or8k39 A T 2: 86,563,578 (GRCm39) I126N probably damaging Het
Pdxdc1 T C 16: 13,657,596 (GRCm39) D532G probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Senp5 A G 16: 31,808,210 (GRCm39) V348A probably benign Het
Slc25a37 T C 14: 69,482,741 (GRCm39) T187A probably benign Het
Svil A G 18: 5,049,379 (GRCm39) I219V probably benign Het
Tcf4 A G 18: 69,776,093 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,779 (GRCm39) V2442A probably benign Het
Tomm70a T C 16: 56,970,212 (GRCm39) L530S probably benign Het
Ulbp3 A G 10: 3,075,866 (GRCm39) noncoding transcript Het
Wscd2 A T 5: 113,699,045 (GRCm39) D200V probably benign Het
Zfp952 C T 17: 33,221,793 (GRCm39) Q53* probably null Het
Other mutations in Nipal3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Nipal3 APN 4 135,195,904 (GRCm39) missense possibly damaging 0.90
IGL01338:Nipal3 APN 4 135,199,194 (GRCm39) critical splice donor site probably null
IGL02149:Nipal3 APN 4 135,194,163 (GRCm39) missense possibly damaging 0.67
IGL02160:Nipal3 APN 4 135,201,728 (GRCm39) nonsense probably null
IGL02826:Nipal3 APN 4 135,195,861 (GRCm39) nonsense probably null
IGL02868:Nipal3 APN 4 135,194,182 (GRCm39) missense probably damaging 1.00
R0189:Nipal3 UTSW 4 135,195,829 (GRCm39) missense possibly damaging 0.89
R0470:Nipal3 UTSW 4 135,174,683 (GRCm39) missense probably damaging 0.99
R0891:Nipal3 UTSW 4 135,195,898 (GRCm39) missense possibly damaging 0.91
R1633:Nipal3 UTSW 4 135,174,659 (GRCm39) missense probably benign 0.03
R1686:Nipal3 UTSW 4 135,174,599 (GRCm39) missense possibly damaging 0.49
R2921:Nipal3 UTSW 4 135,204,776 (GRCm39) missense probably damaging 1.00
R2923:Nipal3 UTSW 4 135,204,776 (GRCm39) missense probably damaging 1.00
R3732:Nipal3 UTSW 4 135,191,157 (GRCm39) missense probably damaging 1.00
R3732:Nipal3 UTSW 4 135,191,157 (GRCm39) missense probably damaging 1.00
R3733:Nipal3 UTSW 4 135,191,157 (GRCm39) missense probably damaging 1.00
R3734:Nipal3 UTSW 4 135,191,157 (GRCm39) missense probably damaging 1.00
R5057:Nipal3 UTSW 4 135,194,167 (GRCm39) missense probably damaging 1.00
R5616:Nipal3 UTSW 4 135,179,715 (GRCm39) missense probably benign 0.01
R5758:Nipal3 UTSW 4 135,179,874 (GRCm39) missense probably benign 0.02
R5779:Nipal3 UTSW 4 135,179,650 (GRCm39) intron probably benign
R5885:Nipal3 UTSW 4 135,199,288 (GRCm39) missense probably damaging 0.97
R6572:Nipal3 UTSW 4 135,174,564 (GRCm39) missense probably benign 0.02
R6981:Nipal3 UTSW 4 135,206,858 (GRCm39) missense probably damaging 1.00
R7194:Nipal3 UTSW 4 135,201,732 (GRCm39) missense probably benign 0.26
R7537:Nipal3 UTSW 4 135,218,248 (GRCm39) missense probably damaging 1.00
R8018:Nipal3 UTSW 4 135,174,659 (GRCm39) missense possibly damaging 0.63
R8098:Nipal3 UTSW 4 135,179,709 (GRCm39) missense possibly damaging 0.87
R8503:Nipal3 UTSW 4 135,206,892 (GRCm39) missense probably damaging 1.00
R9651:Nipal3 UTSW 4 135,174,634 (GRCm39) nonsense probably null
X0066:Nipal3 UTSW 4 135,174,566 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16