Incidental Mutation 'R6364:Niban3'
ID 513418
Institutional Source Beutler Lab
Gene Symbol Niban3
Ensembl Gene ENSMUSG00000043243
Gene Name niban apoptosis regulator 3
Synonyms Fam129c, Bcnp1
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 72050292-72060580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72051733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 23 (G23S)
Ref Sequence ENSEMBL: ENSMUSP00000123432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034264] [ENSMUST00000127626] [ENSMUST00000143662] [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 noncoding transcript
Transcript: ENSMUST00000125525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127285
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: ENSMUST00000143662
AA Change: G23S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: G23S

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: 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: ENSMUST00000138742
SMART Domains Protein: ENSMUSP00000120113
Gene: ENSMUSG00000031807

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 7 174 7.6e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141594
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Cfi G A 3: 129,666,495 (GRCm39) S406N probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Evi5 G T 5: 107,989,979 (GRCm39) P80Q probably damaging Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Npr2 T A 4: 43,643,622 (GRCm39) I550N probably damaging Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup88 C T 11: 70,838,612 (GRCm39) R468Q probably benign Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ptbp2 A T 3: 119,534,091 (GRCm39) N23K probably damaging Het
Ralgapb G T 2: 158,304,029 (GRCm39) G596V probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Scaf4 G A 16: 90,057,136 (GRCm39) Q72* probably null Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Shank2 A G 7: 143,964,146 (GRCm39) S795G probably benign Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H probably damaging 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
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'- ATGTGCTGCTGAGTAATCTCTCC -3'
(R):5'- AGACAACTACAGCTGGGTGC -3'

Sequencing Primer
(F):5'- ACTTTGTAGACCAGACTGGC -3'
(R):5'- TACAGCTGGGTGCCTGGC -3'
Posted On 2018-04-27