Incidental Mutation 'R0948:Niban2'
ID 81689
Institutional Source Beutler Lab
Gene Symbol Niban2
Ensembl Gene ENSMUSG00000026796
Gene Name niban apoptosis regulator 2
Synonyms 9130404D14Rik, Fam129b
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R0948 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32766146-32815265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32812872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 480 (Y480C)
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: Y480C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: Y480C

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik C T 19: 8,867,390 (GRCm39) T63M probably damaging Het
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Ccdc175 A G 12: 72,177,897 (GRCm39) Y434H probably damaging Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mfsd1 A G 3: 67,504,067 (GRCm39) N353S possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b1 T G 9: 38,400,244 (GRCm39) S306R probably benign Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Sobp A T 10: 42,898,205 (GRCm39) I460N probably damaging Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Tacstd2 T A 6: 67,512,102 (GRCm39) I197L probably damaging Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
U2surp A G 9: 95,343,550 (GRCm39) probably benign Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null 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
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
R6088:Niban2 UTSW 2 32,813,135 (GRCm39) missense probably damaging 1.00
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'- CTGAAGGTGAGCCTGACTCCATTG -3'
(R):5'- TTCAAAGATCAGCTCCTGGAAGCG -3'

Sequencing Primer
(F):5'- CCTGACTCCATTGGGCTG -3'
(R):5'- TGGAAGCGTGGCAGCTC -3'
Posted On 2013-11-08