Incidental Mutation 'R3783:Niban1'
ID 272106
Institutional Source Beutler Lab
Gene Symbol Niban1
Ensembl Gene ENSMUSG00000026483
Gene Name niban apoptosis regulator 1
Synonyms Fam129a, Niban
MMRRC Submission 040875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3783 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 151447124-151596791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 151565399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 243 (S243L)
Ref Sequence ENSEMBL: ENSMUSP00000107506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097541] [ENSMUST00000111875] [ENSMUST00000148810]
AlphaFold Q3UW53
Predicted Effect noncoding transcript
Transcript: ENSMUST00000086267
Predicted Effect probably benign
Transcript: ENSMUST00000097541
SMART Domains Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483

DomainStartEndE-ValueType
Blast:PH 70 197 2e-83 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000111875
AA Change: S243L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107506
Gene: ENSMUSG00000026483
AA Change: S243L

DomainStartEndE-ValueType
Blast:PH 70 197 6e-86 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000148810
SMART Domains Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap6 A G 12: 52,927,552 (GRCm39) H154R probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Ascc3 A G 10: 50,604,350 (GRCm39) T1357A probably damaging Het
Atp13a3 A T 16: 30,173,067 (GRCm39) V270D probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Ccdc93 A G 1: 121,365,598 (GRCm39) N77S probably damaging Het
Cpt1b T C 15: 89,309,392 (GRCm39) K47R probably damaging Het
Cyp4f14 A G 17: 33,135,736 (GRCm39) Y42H probably benign Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Firrm A T 1: 163,815,252 (GRCm39) C90S probably benign Het
Flnb T G 14: 7,889,236 (GRCm38) W529G probably benign Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gml C T 15: 74,685,521 (GRCm39) V155M probably damaging Het
Gpr174 A G X: 106,336,670 (GRCm39) T161A probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Isy1 T C 6: 87,798,527 (GRCm39) E209G possibly damaging Het
Kdm5b A G 1: 134,558,280 (GRCm39) H1429R probably benign Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Map3k1 C T 13: 111,892,754 (GRCm39) V834I probably benign Het
Mdn1 A T 4: 32,720,818 (GRCm39) E2310D probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Pcdha1 T A 18: 37,063,855 (GRCm39) L173Q probably damaging Het
Pdpk1 T C 17: 24,329,824 (GRCm39) T71A possibly damaging Het
Plxna2 T A 1: 194,489,829 (GRCm39) V1692E probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Psg27 T A 7: 18,294,279 (GRCm39) Q376L probably damaging Het
Psmd4 T C 3: 94,942,562 (GRCm39) D6G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Scn10a T C 9: 119,520,628 (GRCm39) T91A probably damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Tet2 T C 3: 133,185,124 (GRCm39) K1182R possibly damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Thoc5 A G 11: 4,870,372 (GRCm39) probably benign Het
Tmprss9 G T 10: 80,723,301 (GRCm39) V254F probably damaging Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Usf2 A G 7: 30,655,256 (GRCm39) V133A probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Xdh C T 17: 74,200,590 (GRCm39) probably benign Het
Xrn1 G T 9: 95,851,338 (GRCm39) M153I 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
IGL01762:Niban1 APN 1 151,512,242 (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
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
Predicted Primers
Posted On 2015-03-25