Incidental Mutation 'R1208:Niban3'
ID 164828
Institutional Source Beutler Lab
Gene Symbol Niban3
Ensembl Gene ENSMUSG00000043243
Gene Name niban apoptosis regulator 3
Synonyms Fam129c, Bcnp1
MMRRC Submission 039277-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1208 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72050292-72060580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72053119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 125 (T125S)
Ref Sequence ENSEMBL: ENSMUSP00000123432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034264] [ENSMUST00000125339] [ENSMUST00000126559] [ENSMUST00000143662] [ENSMUST00000127626] [ENSMUST00000143441]
AlphaFold D3YZB0
Predicted Effect probably benign
Transcript: ENSMUST00000034264
SMART Domains Protein: ENSMUSP00000034264
Gene: ENSMUSG00000031807

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 18 217 2.1e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124485
Predicted Effect probably benign
Transcript: ENSMUST00000125339
SMART Domains Protein: ENSMUSP00000119708
Gene: ENSMUSG00000043243

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 110 119 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125525
Predicted Effect probably benign
Transcript: ENSMUST00000126559
Predicted Effect probably damaging
Transcript: ENSMUST00000143662
AA Change: T125S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: T125S

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
PH 68 196 4.94e-4 SMART
low complexity region 218 230 N/A INTRINSIC
low complexity region 260 269 N/A INTRINSIC
low complexity region 437 448 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132891
Predicted Effect probably benign
Transcript: ENSMUST00000127626
SMART Domains Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 18 214 7.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143441
SMART Domains Protein: ENSMUSP00000116524
Gene: ENSMUSG00000031807

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 134 3.8e-44 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik C A 7: 29,260,708 (GRCm39) noncoding transcript Het
Aadacl2fm3 C T 3: 59,772,715 (GRCm39) P73L probably benign Het
Asb14 T C 14: 26,622,375 (GRCm39) probably benign Het
Atp13a3 A T 16: 30,173,065 (GRCm39) C271S probably benign Het
Ccl25 T A 8: 4,407,631 (GRCm39) S199T possibly damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cep104 A T 4: 154,069,836 (GRCm39) D270V probably damaging Het
Dnah5 T A 15: 28,327,877 (GRCm39) Y2084N probably damaging Het
Eftud2 A G 11: 102,755,592 (GRCm39) V214A probably benign Het
Epb41l4b C T 4: 57,077,252 (GRCm39) probably null Het
Gys2 A G 6: 142,396,193 (GRCm39) probably null Het
Lig4 T C 8: 10,021,062 (GRCm39) E906G probably damaging Het
Mast3 G A 8: 71,240,916 (GRCm39) probably null Het
Mta2 G A 19: 8,928,381 (GRCm39) R560H probably damaging Het
Myom2 T C 8: 15,134,631 (GRCm39) L478P probably damaging Het
Neb A T 2: 52,193,912 (GRCm39) L673* probably null Het
Or4c35 G A 2: 89,808,836 (GRCm39) C238Y probably damaging Het
Pdpk1 C A 17: 24,312,583 (GRCm39) probably null Het
Pphln1 T C 15: 93,357,610 (GRCm39) W162R probably damaging Het
Ppp1r13b A G 12: 111,811,339 (GRCm39) V183A probably damaging Het
Recql5 T C 11: 115,783,982 (GRCm39) K951E probably damaging Het
Rev1 T C 1: 38,098,199 (GRCm39) probably benign Het
Slc25a25 T C 2: 32,307,437 (GRCm39) E309G probably benign Het
Slc25a36 T C 9: 96,967,188 (GRCm39) probably benign Het
Sycp2 A T 2: 177,998,421 (GRCm39) I1033N possibly damaging Het
Tbpl2 A T 2: 23,984,783 (GRCm39) N120K probably benign Het
Unc5b A T 10: 60,602,771 (GRCm39) L876Q probably damaging Het
Usp9y T C Y: 1,356,282 (GRCm39) T1140A probably benign Homo
Vmn1r40 A G 6: 89,691,326 (GRCm39) I48V probably benign Het
Zbbx T C 3: 74,945,299 (GRCm39) I708V possibly damaging Het
Zfp318 AGAAGA AGAAGAGGAAGA 17: 46,723,446 (GRCm39) probably benign Het
Other mutations in Niban3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Niban3 APN 8 72,057,507 (GRCm39) splice site probably benign
IGL01530:Niban3 APN 8 72,056,561 (GRCm39) splice site probably benign
IGL01553:Niban3 APN 8 72,055,546 (GRCm39) missense possibly damaging 0.86
IGL02313:Niban3 APN 8 72,055,504 (GRCm39) missense possibly damaging 0.92
IGL02341:Niban3 APN 8 72,056,443 (GRCm39) missense possibly damaging 0.60
IGL02541:Niban3 APN 8 72,055,426 (GRCm39) missense probably benign 0.07
IGL02745:Niban3 APN 8 72,057,682 (GRCm39) splice site probably null
R0006:Niban3 UTSW 8 72,057,688 (GRCm39) splice site probably benign
R0391:Niban3 UTSW 8 72,055,143 (GRCm39) splice site probably benign
R0594:Niban3 UTSW 8 72,051,779 (GRCm39) missense probably benign 0.07
R1208:Niban3 UTSW 8 72,053,119 (GRCm39) missense probably damaging 0.99
R1643:Niban3 UTSW 8 72,052,808 (GRCm39) missense probably benign 0.34
R1848:Niban3 UTSW 8 72,056,413 (GRCm39) missense possibly damaging 0.95
R1986:Niban3 UTSW 8 72,056,404 (GRCm39) missense possibly damaging 0.63
R2319:Niban3 UTSW 8 72,055,408 (GRCm39) missense probably benign 0.00
R4386:Niban3 UTSW 8 72,060,155 (GRCm39) intron probably benign
R4564:Niban3 UTSW 8 72,057,704 (GRCm39) intron probably benign
R4666:Niban3 UTSW 8 72,056,469 (GRCm39) nonsense probably null
R6341:Niban3 UTSW 8 72,052,721 (GRCm39) missense probably damaging 1.00
R6364:Niban3 UTSW 8 72,051,733 (GRCm39) missense probably benign 0.08
R6888:Niban3 UTSW 8 72,056,383 (GRCm39) missense probably benign
R6890:Niban3 UTSW 8 72,058,315 (GRCm39) missense probably damaging 1.00
R7383:Niban3 UTSW 8 72,056,470 (GRCm39) missense possibly damaging 0.86
R7441:Niban3 UTSW 8 72,052,808 (GRCm39) missense probably benign 0.34
R7459:Niban3 UTSW 8 72,057,671 (GRCm39) missense possibly damaging 0.75
R7527:Niban3 UTSW 8 72,059,342 (GRCm39) missense probably damaging 0.99
R7873:Niban3 UTSW 8 72,054,892 (GRCm39) missense probably damaging 1.00
R8698:Niban3 UTSW 8 72,060,159 (GRCm39) missense unknown
R8936:Niban3 UTSW 8 72,060,307 (GRCm39) utr 3 prime probably benign
R9272:Niban3 UTSW 8 72,055,520 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGGCAACCAACCTTCTGTGTTC -3'
(R):5'- GAAGTTACACACGCTGTGGGTAGG -3'

Sequencing Primer
(F):5'- gagggggtagggatgtgg -3'
(R):5'- CACGCTGTGGGTAGGAAATTG -3'
Posted On 2014-03-28