Incidental Mutation 'R6088:Niban2'
ID 486068
Institutional Source Beutler Lab
Gene Symbol Niban2
Ensembl Gene ENSMUSG00000026796
Gene Name niban apoptosis regulator 2
Synonyms 9130404D14Rik, Fam129b
MMRRC Submission 044245-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R6088 (G1)
Quality Score 171.009
Status Validated
Chromosome 2
Chromosomal Location 32766146-32815265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32813135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 540 (V540A)
Ref Sequence ENSEMBL: ENSMUSP00000028135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000028135] [ENSMUST00000113200]
AlphaFold Q8R1F1
Predicted Effect probably benign
Transcript: ENSMUST00000028132
SMART Domains Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792

DomainStartEndE-ValueType
LRR 80 102 1.26e1 SMART
LRR 103 125 9.3e-1 SMART
LRR 126 148 1.91e1 SMART
LRR 149 171 7.05e-1 SMART
Blast:IlGF 191 321 1e-71 BLAST
low complexity region 322 333 N/A INTRINSIC
low complexity region 474 493 N/A INTRINSIC
coiled coil region 500 547 N/A INTRINSIC
SAM 566 632 2.42e-2 SMART
RING 679 713 3.51e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000028135
AA Change: V540A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: V540A

DomainStartEndE-ValueType
PH 69 194 1.81e-2 SMART
low complexity region 594 607 N/A INTRINSIC
low complexity region 685 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113200
SMART Domains Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792

DomainStartEndE-ValueType
LRR 80 102 1.26e1 SMART
LRR 103 125 9.3e-1 SMART
LRR 126 148 1.91e1 SMART
LRR 149 171 7.05e-1 SMART
Blast:IlGF 191 321 1e-71 BLAST
low complexity region 322 333 N/A INTRINSIC
low complexity region 474 493 N/A INTRINSIC
coiled coil region 500 547 N/A INTRINSIC
SAM 566 632 2.42e-2 SMART
RING 679 713 3.51e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154514
Meta Mutation Damage Score 0.5426 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,035,174 (GRCm39) V360F probably damaging Het
Ankrd17 C T 5: 90,401,547 (GRCm39) E1605K possibly damaging Het
Arid4a A G 12: 71,069,010 (GRCm39) D54G probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Bltp3a G A 17: 28,103,579 (GRCm39) probably null Het
Card6 A T 15: 5,134,501 (GRCm39) V234E possibly damaging Het
Cd1d1 G T 3: 86,906,009 (GRCm39) Q89K probably benign Het
Ciita G A 16: 10,329,795 (GRCm39) R693K probably damaging Het
Cox7a2l G T 17: 83,811,401 (GRCm39) L77I probably benign Het
Crybg2 A T 4: 133,803,101 (GRCm39) probably null Het
Cts8 T C 13: 61,401,780 (GRCm39) N39S probably benign Het
Def8 G T 8: 124,186,787 (GRCm39) E456* probably null Het
Dld A G 12: 31,390,988 (GRCm39) F153L probably benign Het
Elf1 C T 14: 79,804,701 (GRCm39) T122I probably benign Het
Emilin2 T C 17: 71,562,119 (GRCm39) N961S probably benign Het
Esp24 A G 17: 39,350,901 (GRCm39) I34V probably benign Het
Fam184b C A 5: 45,741,354 (GRCm39) K292N probably damaging Het
Gabrg3 T A 7: 56,634,826 (GRCm39) N119I probably damaging Het
Gucy1b1 T C 3: 81,942,187 (GRCm39) H524R probably damaging Het
Kcp A T 6: 29,502,631 (GRCm39) S205T probably benign Het
Klb C T 5: 65,506,356 (GRCm39) T201M probably benign Het
Lamp3 A T 16: 19,492,148 (GRCm39) F365L probably damaging Het
Mad1l1 T A 5: 140,179,718 (GRCm39) H390L probably benign Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Myo5b T A 18: 74,853,969 (GRCm39) L1196Q possibly damaging Het
Ndufb8 A G 19: 44,543,464 (GRCm39) S70P probably benign Het
Neb T C 2: 52,099,354 (GRCm39) D4832G probably damaging Het
Nr5a1 T C 2: 38,592,007 (GRCm39) D322G probably benign Het
Or1e1d-ps1 A T 11: 73,819,649 (GRCm39) T273S probably benign Het
Or5ak20 T A 2: 85,183,698 (GRCm39) S191C probably damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Oxa1l T A 14: 54,605,151 (GRCm39) probably null Het
Pafah2 A G 4: 134,140,692 (GRCm39) I221V probably benign Het
Pibf1 T A 14: 99,416,794 (GRCm39) F456I probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekhg2 C T 7: 28,060,438 (GRCm39) V964I probably benign Het
Ppip5k1 C A 2: 121,167,944 (GRCm39) V770L probably benign Het
Ppl A T 16: 4,922,852 (GRCm39) L213Q possibly damaging Het
Ptprf G A 4: 118,067,952 (GRCm39) T1785I possibly damaging Het
Pycr2 G A 1: 180,733,801 (GRCm39) G131E probably damaging Het
Rbpj C T 5: 53,808,710 (GRCm39) probably null Het
Rcc1 G T 4: 132,060,153 (GRCm39) D430E probably benign Het
Rhbdf1 A G 11: 32,162,007 (GRCm39) V525A possibly damaging Het
Samd7 G A 3: 30,810,632 (GRCm39) M216I probably benign Het
Ska3 A T 14: 58,054,151 (GRCm39) D266E probably benign Het
Slc1a7 G A 4: 107,869,641 (GRCm39) V569M probably damaging Het
Slc26a1 C T 5: 108,821,872 (GRCm39) E6K possibly damaging Het
Slc4a4 T A 5: 89,345,563 (GRCm39) V741E probably benign Het
St6galnac3 C T 3: 152,912,352 (GRCm39) G164S probably damaging Het
Tgs1 T A 4: 3,595,383 (GRCm39) N517K probably benign Het
Tns4 A G 11: 98,964,546 (GRCm39) S522P probably damaging Het
Trpm1 A T 7: 63,917,724 (GRCm39) M355L probably damaging Het
Trpm8 G A 1: 88,234,400 (GRCm39) probably benign Het
V1ra8 T C 6: 90,180,082 (GRCm39) F95S probably damaging Het
Zfp521 A C 18: 13,979,166 (GRCm39) S416A possibly damaging Het
Zfp574 T A 7: 24,779,764 (GRCm39) V262E probably benign Het
Zfp740 T A 15: 102,117,243 (GRCm39) I77N probably damaging Het
Zscan18 A T 7: 12,509,125 (GRCm39) probably benign Het
Other mutations in Niban2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Niban2 APN 2 32,802,483 (GRCm39) missense probably benign 0.04
IGL01072:Niban2 APN 2 32,802,427 (GRCm39) unclassified probably benign
IGL01874:Niban2 APN 2 32,795,779 (GRCm39) critical splice acceptor site probably null
IGL02302:Niban2 APN 2 32,811,135 (GRCm39) missense probably benign
IGL02681:Niban2 APN 2 32,801,402 (GRCm39) missense probably benign 0.05
IGL03126:Niban2 APN 2 32,766,398 (GRCm39) missense possibly damaging 0.95
IGL03240:Niban2 APN 2 32,812,109 (GRCm39) missense probably benign 0.00
R0125:Niban2 UTSW 2 32,813,833 (GRCm39) missense probably benign 0.17
R0948:Niban2 UTSW 2 32,812,872 (GRCm39) missense probably damaging 1.00
R1195:Niban2 UTSW 2 32,809,815 (GRCm39) missense probably benign
R1195:Niban2 UTSW 2 32,809,815 (GRCm39) missense probably benign
R1195:Niban2 UTSW 2 32,809,815 (GRCm39) missense probably benign
R2130:Niban2 UTSW 2 32,813,659 (GRCm39) missense probably benign 0.34
R2408:Niban2 UTSW 2 32,813,482 (GRCm39) missense probably damaging 1.00
R4881:Niban2 UTSW 2 32,812,590 (GRCm39) nonsense probably null
R5506:Niban2 UTSW 2 32,810,994 (GRCm39) missense probably damaging 0.96
R5748:Niban2 UTSW 2 32,809,581 (GRCm39) missense probably damaging 1.00
R5857:Niban2 UTSW 2 32,799,920 (GRCm39) missense probably benign 0.28
R6011:Niban2 UTSW 2 32,812,877 (GRCm39) missense probably damaging 0.99
R6720:Niban2 UTSW 2 32,795,838 (GRCm39) missense probably damaging 1.00
R6763:Niban2 UTSW 2 32,801,460 (GRCm39) critical splice donor site probably null
R6769:Niban2 UTSW 2 32,785,666 (GRCm39)
R7296:Niban2 UTSW 2 32,812,654 (GRCm39) missense possibly damaging 0.74
R7769:Niban2 UTSW 2 32,809,844 (GRCm39) missense possibly damaging 0.93
R7888:Niban2 UTSW 2 32,812,137 (GRCm39) nonsense probably null
R8282:Niban2 UTSW 2 32,809,029 (GRCm39) missense probably benign 0.02
R8685:Niban2 UTSW 2 32,809,101 (GRCm39) missense probably benign 0.03
R8729:Niban2 UTSW 2 32,799,946 (GRCm39) missense probably damaging 1.00
R8878:Niban2 UTSW 2 32,811,105 (GRCm39) missense probably benign 0.00
R8916:Niban2 UTSW 2 32,811,106 (GRCm39) missense possibly damaging 0.47
R9676:Niban2 UTSW 2 32,802,581 (GRCm39) missense probably benign 0.00
R9772:Niban2 UTSW 2 32,795,868 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGCAGATCACCATTCCC -3'
(R):5'- AAGCTGGCAGACCACTATG -3'

Sequencing Primer
(F):5'- CATTCCCTTCCTGCTCAAAAAG -3'
(R):5'- GCAGACCACTATGTCCCACTCTG -3'
Posted On 2017-08-16