Incidental Mutation 'R7441:Niban3'
ID 576953
Institutional Source Beutler Lab
Gene Symbol Niban3
Ensembl Gene ENSMUSG00000043243
Gene Name niban apoptosis regulator 3
Synonyms Fam129c, Bcnp1
MMRRC Submission 045517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 72050292-72060580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72052808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 94 (D94G)
Ref Sequence ENSEMBL: ENSMUSP00000123432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034264] [ENSMUST00000125339] [ENSMUST00000126559] [ENSMUST00000143662] [ENSMUST00000143441] [ENSMUST00000127626]
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 benign
Transcript: ENSMUST00000143662
AA Change: D94G

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: D94G

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: ENSMUST00000143441
SMART Domains Protein: ENSMUSP00000116524
Gene: ENSMUSG00000031807

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 134 3.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127626
SMART Domains Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 18 214 7.2e-62 PFAM
Meta Mutation Damage Score 0.5585 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Efhb A T 17: 53,708,549 (GRCm39) I707N possibly damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp426 T C 9: 20,382,147 (GRCm39) E280G possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null 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
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
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'- GCTCGTATGTGACCAAACTGAAG -3'
(R):5'- TCCTGTCAGAGCTGCAAAGC -3'

Sequencing Primer
(F):5'- CGTATGTGACCAAACTGAAGAGTTC -3'
(R):5'- GACTCATAGTTCTGTGACCAAAGAC -3'
Posted On 2019-10-07