Incidental Mutation 'IGL01762:Niban1'
ID 153288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Niban1
Ensembl Gene ENSMUSG00000026483
Gene Name niban apoptosis regulator 1
Synonyms Fam129a, Niban
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01762
Quality Score
Status
Chromosome 1
Chromosomal Location 151447124-151596791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151512242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 48 (V48A)
Ref Sequence ENSEMBL: ENSMUSP00000115822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097541] [ENSMUST00000111875] [ENSMUST00000134499] [ENSMUST00000148810]
AlphaFold Q3UW53
Predicted Effect probably damaging
Transcript: ENSMUST00000097541
AA Change: V48A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: V48A

DomainStartEndE-ValueType
Blast:PH 70 197 2e-83 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000111875
AA Change: V48A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107506
Gene: ENSMUSG00000026483
AA Change: V48A

DomainStartEndE-ValueType
Blast:PH 70 197 6e-86 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000134499
AA Change: V48A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115692
Gene: ENSMUSG00000026483
AA Change: V48A

DomainStartEndE-ValueType
SCOP:d1faoa_ 67 114 5e-3 SMART
Blast:PH 70 114 3e-23 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000148810
AA Change: V48A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: V48A

DomainStartEndE-ValueType
SCOP:d1faoa_ 67 118 1e-2 SMART
Blast:PH 70 197 1e-80 BLAST
low complexity region 540 549 N/A INTRINSIC
low complexity region 699 714 N/A INTRINSIC
low complexity region 784 797 N/A INTRINSIC
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 encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,050,847 (GRCm39) L47* probably null Het
Abca13 A T 11: 9,265,423 (GRCm39) T3033S probably benign Het
Atp1a2 C A 1: 172,112,480 (GRCm39) V503L possibly damaging Het
Cacna1e T A 1: 154,347,119 (GRCm39) D770V possibly damaging Het
Camkk1 A G 11: 72,921,627 (GRCm39) probably null Het
Cd34 T A 1: 194,621,341 (GRCm39) M23K probably benign Het
Cndp1 T A 18: 84,640,411 (GRCm39) I265F probably damaging Het
Cux2 A G 5: 122,011,208 (GRCm39) I574T probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Galk1 A G 11: 115,900,834 (GRCm39) Y236H probably damaging Het
Gbp11 T C 5: 105,475,473 (GRCm39) I292V probably benign Het
Gprc5c A G 11: 114,754,850 (GRCm39) I176V probably benign Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Myh6 T C 14: 55,199,538 (GRCm39) K258E probably benign Het
Nlrp9c T A 7: 26,084,850 (GRCm39) D243V probably damaging Het
Nobox T G 6: 43,280,927 (GRCm39) K516Q probably damaging Het
Nudcd3 A G 11: 6,100,560 (GRCm39) S195P probably damaging Het
Pde10a T C 17: 9,161,750 (GRCm39) I477T possibly damaging Het
Pgbd5 C T 8: 125,097,349 (GRCm39) A394T probably damaging Het
Piezo1 G A 8: 123,214,668 (GRCm39) R1553* probably null Het
Prkd1 T C 12: 50,434,013 (GRCm39) I577V probably benign Het
Prss34 T C 17: 25,518,786 (GRCm39) I256T probably benign Het
Ptprg A G 14: 12,037,386 (GRCm38) T189A probably benign Het
Ptprr C T 10: 116,072,638 (GRCm39) T200I probably damaging Het
Samd8 C T 14: 21,830,168 (GRCm39) P198L probably damaging Het
Sema3c T C 5: 17,899,849 (GRCm39) L447P possibly damaging Het
Slc22a23 A T 13: 34,387,984 (GRCm39) F371I possibly damaging Het
Slc2a2 A G 3: 28,771,621 (GRCm39) R184G probably damaging Het
Slitrk6 T A 14: 110,989,056 (GRCm39) D217V probably damaging Het
Tlr2 A G 3: 83,744,301 (GRCm39) V594A probably benign Het
Vmn2r109 A G 17: 20,774,654 (GRCm39) F234L probably benign Het
Vmn2r12 A C 5: 109,234,430 (GRCm39) L594R probably damaging Het
Vmn2r124 A G 17: 18,283,434 (GRCm39) Q376R possibly damaging Het
Vmn2r7 T C 3: 64,598,856 (GRCm39) D567G probably benign Het
Other mutations in Niban1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Niban1 APN 1 151,593,472 (GRCm39) missense probably benign 0.06
IGL01690:Niban1 APN 1 151,579,555 (GRCm39) missense probably damaging 1.00
IGL01784:Niban1 APN 1 151,525,116 (GRCm39) missense probably damaging 1.00
IGL01938:Niban1 APN 1 151,565,365 (GRCm39) missense probably benign 0.22
IGL02427:Niban1 APN 1 151,593,025 (GRCm39) missense probably damaging 1.00
IGL02617:Niban1 APN 1 151,447,296 (GRCm39) missense probably benign 0.11
IGL02946:Niban1 APN 1 151,525,176 (GRCm39) missense probably damaging 0.99
R0242:Niban1 UTSW 1 151,593,967 (GRCm39) missense probably benign 0.00
R0242:Niban1 UTSW 1 151,593,967 (GRCm39) missense probably benign 0.00
R0279:Niban1 UTSW 1 151,584,957 (GRCm39) critical splice donor site probably null
R0421:Niban1 UTSW 1 151,584,833 (GRCm39) splice site probably benign
R0531:Niban1 UTSW 1 151,593,835 (GRCm39) missense probably benign 0.11
R0725:Niban1 UTSW 1 151,581,766 (GRCm39) missense probably benign 0.04
R1493:Niban1 UTSW 1 151,581,841 (GRCm39) missense probably damaging 1.00
R1563:Niban1 UTSW 1 151,591,424 (GRCm39) missense possibly damaging 0.69
R1868:Niban1 UTSW 1 151,517,302 (GRCm39) missense possibly damaging 0.71
R1944:Niban1 UTSW 1 151,571,979 (GRCm39) missense probably damaging 0.99
R1945:Niban1 UTSW 1 151,571,979 (GRCm39) missense probably damaging 0.99
R2071:Niban1 UTSW 1 151,512,181 (GRCm39) missense probably damaging 1.00
R2126:Niban1 UTSW 1 151,584,884 (GRCm39) missense possibly damaging 0.94
R2126:Niban1 UTSW 1 151,571,886 (GRCm39) missense probably damaging 1.00
R2138:Niban1 UTSW 1 151,572,002 (GRCm39) missense probably damaging 0.98
R2180:Niban1 UTSW 1 151,593,829 (GRCm39) missense probably benign 0.02
R2402:Niban1 UTSW 1 151,565,365 (GRCm39) missense probably benign 0.22
R3689:Niban1 UTSW 1 151,579,447 (GRCm39) splice site probably null
R3783:Niban1 UTSW 1 151,565,399 (GRCm39) missense possibly damaging 0.66
R3975:Niban1 UTSW 1 151,525,086 (GRCm39) missense probably damaging 1.00
R4029:Niban1 UTSW 1 151,571,441 (GRCm39) missense probably benign 0.00
R4328:Niban1 UTSW 1 151,512,169 (GRCm39) missense possibly damaging 0.86
R4447:Niban1 UTSW 1 151,512,153 (GRCm39) critical splice acceptor site probably null
R4573:Niban1 UTSW 1 151,579,517 (GRCm39) missense possibly damaging 0.85
R4774:Niban1 UTSW 1 151,591,445 (GRCm39) missense probably damaging 1.00
R5064:Niban1 UTSW 1 151,565,410 (GRCm39) missense probably benign 0.05
R5077:Niban1 UTSW 1 151,590,274 (GRCm39) missense probably benign 0.00
R5187:Niban1 UTSW 1 151,579,580 (GRCm39) missense possibly damaging 0.50
R5484:Niban1 UTSW 1 151,593,837 (GRCm39) missense probably benign 0.08
R5553:Niban1 UTSW 1 151,592,986 (GRCm39) missense probably damaging 0.99
R5572:Niban1 UTSW 1 151,584,941 (GRCm39) missense probably benign 0.05
R5575:Niban1 UTSW 1 151,593,991 (GRCm39) missense probably benign 0.31
R5586:Niban1 UTSW 1 151,593,307 (GRCm39) missense probably benign 0.00
R5697:Niban1 UTSW 1 151,576,012 (GRCm39) missense probably damaging 1.00
R6305:Niban1 UTSW 1 151,571,469 (GRCm39) missense probably damaging 1.00
R7065:Niban1 UTSW 1 151,575,858 (GRCm39) critical splice acceptor site probably null
R7126:Niban1 UTSW 1 151,590,318 (GRCm39) nonsense probably null
R7392:Niban1 UTSW 1 151,571,975 (GRCm39) missense probably damaging 1.00
R7571:Niban1 UTSW 1 151,594,048 (GRCm39) missense probably benign 0.01
R7577:Niban1 UTSW 1 151,594,063 (GRCm39) missense probably benign
R7939:Niban1 UTSW 1 151,581,775 (GRCm39) missense probably damaging 1.00
R8018:Niban1 UTSW 1 151,593,006 (GRCm39) nonsense probably null
R8164:Niban1 UTSW 1 151,593,339 (GRCm39) missense probably benign 0.02
R8356:Niban1 UTSW 1 151,571,901 (GRCm39) missense probably damaging 1.00
R8478:Niban1 UTSW 1 151,512,263 (GRCm39) missense possibly damaging 0.77
R8833:Niban1 UTSW 1 151,520,681 (GRCm39) missense probably damaging 1.00
R8847:Niban1 UTSW 1 151,575,929 (GRCm39) missense probably damaging 1.00
R8854:Niban1 UTSW 1 151,584,950 (GRCm39) missense probably damaging 1.00
R8960:Niban1 UTSW 1 151,591,463 (GRCm39) missense possibly damaging 0.92
R9616:Niban1 UTSW 1 151,512,193 (GRCm39) missense probably damaging 1.00
R9684:Niban1 UTSW 1 151,593,538 (GRCm39) missense possibly damaging 0.87
Posted On 2014-02-04