Incidental Mutation 'R5921:Bnc2'
ID 461563
Institutional Source Beutler Lab
Gene Symbol Bnc2
Ensembl Gene ENSMUSG00000028487
Gene Name basonuclin zinc finger protein 2
Synonyms 8430420F16Rik, 5031434M05Rik
MMRRC Submission 044118-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5921 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 84193332-84593512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84211292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 454 (I454N)
Ref Sequence ENSEMBL: ENSMUSP00000099884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102820] [ENSMUST00000107198] [ENSMUST00000175800] [ENSMUST00000175969] [ENSMUST00000176418] [ENSMUST00000176691] [ENSMUST00000176612] [ENSMUST00000176971] [ENSMUST00000176947] [ENSMUST00000176601] [ENSMUST00000176998]
AlphaFold Q8BMQ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000102820
AA Change: I454N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: I454N

DomainStartEndE-ValueType
low complexity region 362 378 N/A INTRINSIC
low complexity region 389 400 N/A INTRINSIC
ZnF_C2H2 469 492 4.72e-2 SMART
ZnF_C2H2 497 526 7.11e0 SMART
low complexity region 612 629 N/A INTRINSIC
low complexity region 633 642 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
ZnF_C2H2 861 884 1.62e0 SMART
ZnF_C2H2 889 916 4.81e0 SMART
low complexity region 991 1008 N/A INTRINSIC
low complexity region 1048 1062 N/A INTRINSIC
ZnF_C2H2 1063 1086 1.03e-2 SMART
ZnF_C2H2 1091 1118 3.78e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107198
AA Change: I426N

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: I426N

DomainStartEndE-ValueType
low complexity region 334 350 N/A INTRINSIC
low complexity region 361 372 N/A INTRINSIC
ZnF_C2H2 441 464 4.72e-2 SMART
ZnF_C2H2 469 498 7.11e0 SMART
low complexity region 584 601 N/A INTRINSIC
low complexity region 605 614 N/A INTRINSIC
low complexity region 648 662 N/A INTRINSIC
ZnF_C2H2 833 856 1.62e0 SMART
ZnF_C2H2 861 888 4.81e0 SMART
low complexity region 963 980 N/A INTRINSIC
low complexity region 1020 1034 N/A INTRINSIC
ZnF_C2H2 1035 1058 1.03e-2 SMART
ZnF_C2H2 1063 1090 3.78e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175757
Predicted Effect probably benign
Transcript: ENSMUST00000175800
SMART Domains Protein: ENSMUSP00000134795
Gene: ENSMUSG00000028487

DomainStartEndE-ValueType
low complexity region 256 272 N/A INTRINSIC
low complexity region 283 294 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175969
Predicted Effect probably benign
Transcript: ENSMUST00000176418
SMART Domains Protein: ENSMUSP00000135569
Gene: ENSMUSG00000028487

DomainStartEndE-ValueType
low complexity region 367 383 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176691
AA Change: I359N

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: I359N

DomainStartEndE-ValueType
low complexity region 267 283 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
ZnF_C2H2 374 397 4.72e-2 SMART
ZnF_C2H2 402 431 7.11e0 SMART
low complexity region 517 534 N/A INTRINSIC
low complexity region 538 547 N/A INTRINSIC
low complexity region 581 595 N/A INTRINSIC
ZnF_C2H2 766 789 1.62e0 SMART
ZnF_C2H2 794 821 4.81e0 SMART
low complexity region 896 913 N/A INTRINSIC
low complexity region 953 967 N/A INTRINSIC
ZnF_C2H2 968 991 1.03e-2 SMART
ZnF_C2H2 996 1023 3.78e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176612
AA Change: I384N

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
AA Change: I384N

DomainStartEndE-ValueType
low complexity region 292 308 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
ZnF_C2H2 399 422 4.72e-2 SMART
ZnF_C2H2 427 456 7.11e0 SMART
low complexity region 542 559 N/A INTRINSIC
low complexity region 563 572 N/A INTRINSIC
low complexity region 606 620 N/A INTRINSIC
ZnF_C2H2 791 814 1.62e0 SMART
low complexity region 832 846 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176476
Predicted Effect probably benign
Transcript: ENSMUST00000177277
Predicted Effect probably benign
Transcript: ENSMUST00000176971
SMART Domains Protein: ENSMUSP00000135607
Gene: ENSMUSG00000028487

DomainStartEndE-ValueType
ZnF_C2H2 3 28 1.98e2 SMART
low complexity region 103 120 N/A INTRINSIC
low complexity region 160 174 N/A INTRINSIC
ZnF_C2H2 175 198 1.03e-2 SMART
ZnF_C2H2 203 230 3.78e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176947
Predicted Effect probably benign
Transcript: ENSMUST00000176601
SMART Domains Protein: ENSMUSP00000135480
Gene: ENSMUSG00000028487

DomainStartEndE-ValueType
ZnF_C2H2 12 35 1.62e0 SMART
low complexity region 53 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176702
SMART Domains Protein: ENSMUSP00000134774
Gene: ENSMUSG00000028487

DomainStartEndE-ValueType
ZnF_C2H2 105 128 1.62e0 SMART
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176998
SMART Domains Protein: ENSMUSP00000135283
Gene: ENSMUSG00000028487

DomainStartEndE-ValueType
ZnF_C2H2 12 35 1.62e0 SMART
low complexity region 53 67 N/A INTRINSIC
Meta Mutation Damage Score 0.0783 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 95% (70/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap insertion die within 24 hrs of birth and display cleft palate, an overall size reduction of the head and tongue, and abnormal craniofacial bone development due to impaired multiplication of embryonic craniofacial mesenchymal cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 35,969,555 (GRCm39) V223M probably damaging Het
Adamts7 T C 9: 90,070,747 (GRCm39) S623P probably benign Het
Aqp7 G T 4: 41,036,093 (GRCm39) N48K probably benign Het
Asic4 A G 1: 75,428,017 (GRCm39) N181S probably benign Het
Blvra A T 2: 126,929,283 (GRCm39) probably benign Het
Bmf C A 2: 118,363,034 (GRCm39) probably benign Het
Catsperg1 A T 7: 28,889,948 (GRCm39) L700H possibly damaging Het
Ccdc14 T C 16: 34,526,761 (GRCm39) V222A probably damaging Het
Cfap97d2 G T 8: 13,784,840 (GRCm39) A34S probably damaging Het
Clstn3 A T 6: 124,408,539 (GRCm39) probably benign Het
Col15a1 A T 4: 47,300,602 (GRCm39) I1066F probably damaging Het
Dcdc2c T C 12: 28,574,774 (GRCm39) E116G possibly damaging Het
Dop1a G A 9: 86,383,975 (GRCm39) S310N probably damaging Het
Dync1h1 T A 12: 110,584,802 (GRCm39) V735E probably damaging Het
Eva1a T C 6: 82,069,140 (GRCm39) Y156H probably damaging Het
Fbxw26 A G 9: 109,575,086 (GRCm39) I13T probably damaging Het
Fermt2 A T 14: 45,702,203 (GRCm39) L527Q probably damaging Het
Fxyd4 G A 6: 117,913,099 (GRCm39) probably benign Het
Gal A G 19: 3,460,100 (GRCm39) S124P probably damaging Het
Glmp T C 3: 88,233,283 (GRCm39) S56P probably benign Het
Gm5600 T C 7: 113,307,413 (GRCm39) noncoding transcript Het
Golga2 A G 2: 32,187,767 (GRCm39) N194S probably benign Het
Gon4l T C 3: 88,817,254 (GRCm39) probably benign Het
Gtf2ird2 T A 5: 134,246,426 (GRCm39) Y895N probably damaging Het
Hsd3b1 C A 3: 98,765,215 (GRCm39) M22I probably benign Het
Ipo13 A C 4: 117,769,286 (GRCm39) L169V probably benign Het
Kif13a G T 13: 46,978,776 (GRCm39) T208K probably damaging Het
Klhl5 G T 5: 65,320,299 (GRCm39) A618S probably damaging Het
Lrig2 A T 3: 104,370,070 (GRCm39) L496* probably null Het
Macf1 A G 4: 123,420,504 (GRCm39) I250T probably benign Het
Man1a A G 10: 53,783,606 (GRCm39) I632T probably damaging Het
Nav2 A G 7: 48,954,324 (GRCm39) probably benign Het
Nek8 A G 11: 78,063,885 (GRCm39) M40T probably damaging Het
Oas3 T C 5: 120,908,046 (GRCm39) D298G probably damaging Het
Ociad1 A G 5: 73,467,725 (GRCm39) D167G probably benign Het
Or14j4 A T 17: 37,921,110 (GRCm39) C177* probably null Het
Or8s5 T C 15: 98,238,310 (GRCm39) T187A probably benign Het
Or9s13 T A 1: 92,548,344 (GRCm39) S239T probably benign Het
Pafah2 G T 4: 134,145,380 (GRCm39) V255L probably benign Het
Pde10a A G 17: 9,149,369 (GRCm39) Y407C probably damaging Het
Pirb A C 7: 3,719,693 (GRCm39) Y484* probably null Het
Prl8a6 A G 13: 27,621,171 (GRCm39) S20P probably damaging Het
R3hdm4 A T 10: 79,749,453 (GRCm39) V52E probably damaging Het
Rab3ip A G 10: 116,775,152 (GRCm39) Y69H probably damaging Het
Rxrg T C 1: 167,466,808 (GRCm39) M330T possibly damaging Het
Sema4g G T 19: 44,987,143 (GRCm39) G460V probably benign Het
Sidt1 T C 16: 44,094,098 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,065,595 (GRCm39) D943E probably benign Het
Slc12a4 T C 8: 106,671,876 (GRCm39) probably null Het
Slc4a3 T G 1: 75,534,088 (GRCm39) probably null Het
Slc4a8 C T 15: 100,712,328 (GRCm39) probably benign Het
Srcap T A 7: 127,158,005 (GRCm39) probably benign Het
Stk39 A G 2: 68,196,449 (GRCm39) S327P probably damaging Het
Tbc1d5 G A 17: 51,270,721 (GRCm39) T170M probably damaging Het
Trim13 T A 14: 61,842,538 (GRCm39) F185Y probably benign Het
Ttc17 A G 2: 94,209,193 (GRCm39) V87A probably damaging Het
Ttn A T 2: 76,551,207 (GRCm39) M31395K possibly damaging Het
Usp34 T A 11: 23,414,686 (GRCm39) D2876E probably damaging Het
Uvssa T C 5: 33,547,096 (GRCm39) S221P probably benign Het
Vmn2r93 T A 17: 18,546,030 (GRCm39) L634Q probably damaging Het
Vmp1 C T 11: 86,477,336 (GRCm39) A355T probably benign Het
Xpo5 A T 17: 46,532,347 (GRCm39) M461L probably benign Het
Zfp759 T A 13: 67,288,558 (GRCm39) F703Y probably damaging Het
Other mutations in Bnc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Bnc2 APN 4 84,194,478 (GRCm39) splice site probably null
IGL01902:Bnc2 APN 4 84,309,181 (GRCm39) missense probably damaging 1.00
IGL02228:Bnc2 APN 4 84,211,313 (GRCm39) missense possibly damaging 0.70
IGL02396:Bnc2 APN 4 84,194,246 (GRCm39) missense probably benign 0.16
R0125:Bnc2 UTSW 4 84,211,169 (GRCm39) missense probably damaging 1.00
R0650:Bnc2 UTSW 4 84,211,433 (GRCm39) missense probably benign 0.04
R1082:Bnc2 UTSW 4 84,464,572 (GRCm39) missense probably damaging 1.00
R1334:Bnc2 UTSW 4 84,194,526 (GRCm39) missense possibly damaging 0.49
R1439:Bnc2 UTSW 4 84,194,305 (GRCm39) missense probably benign 0.38
R1447:Bnc2 UTSW 4 84,211,457 (GRCm39) missense probably benign 0.13
R1515:Bnc2 UTSW 4 84,332,563 (GRCm39) missense probably null 0.99
R1548:Bnc2 UTSW 4 84,194,194 (GRCm39) missense probably damaging 1.00
R1818:Bnc2 UTSW 4 84,210,111 (GRCm39) missense possibly damaging 0.70
R1819:Bnc2 UTSW 4 84,210,111 (GRCm39) missense possibly damaging 0.70
R2345:Bnc2 UTSW 4 84,210,740 (GRCm39) missense probably damaging 1.00
R2897:Bnc2 UTSW 4 84,211,152 (GRCm39) missense probably damaging 1.00
R2898:Bnc2 UTSW 4 84,211,152 (GRCm39) missense probably damaging 1.00
R2966:Bnc2 UTSW 4 84,211,754 (GRCm39) missense probably benign 0.14
R3404:Bnc2 UTSW 4 84,464,478 (GRCm39) missense probably damaging 0.98
R4235:Bnc2 UTSW 4 84,211,751 (GRCm39) missense probably damaging 0.96
R4546:Bnc2 UTSW 4 84,210,213 (GRCm39) missense probably benign 0.34
R4676:Bnc2 UTSW 4 84,211,056 (GRCm39) missense probably damaging 1.00
R4926:Bnc2 UTSW 4 84,194,416 (GRCm39) missense probably damaging 1.00
R5060:Bnc2 UTSW 4 84,449,872 (GRCm39) missense probably benign 0.02
R5365:Bnc2 UTSW 4 84,329,666 (GRCm39) intron probably benign
R5735:Bnc2 UTSW 4 84,210,908 (GRCm39) missense probably damaging 1.00
R5872:Bnc2 UTSW 4 84,211,007 (GRCm39) missense possibly damaging 0.86
R5999:Bnc2 UTSW 4 84,474,137 (GRCm39) missense probably benign 0.20
R6351:Bnc2 UTSW 4 84,211,380 (GRCm39) missense probably benign 0.16
R6869:Bnc2 UTSW 4 84,211,733 (GRCm39) missense probably damaging 1.00
R7236:Bnc2 UTSW 4 84,474,101 (GRCm39) missense probably benign 0.31
R7363:Bnc2 UTSW 4 84,210,308 (GRCm39) missense probably benign 0.02
R7643:Bnc2 UTSW 4 84,424,811 (GRCm39) missense probably benign 0.01
R8017:Bnc2 UTSW 4 84,329,662 (GRCm39) missense
R8019:Bnc2 UTSW 4 84,329,662 (GRCm39) missense
R8050:Bnc2 UTSW 4 84,210,573 (GRCm39) missense probably benign 0.00
R8311:Bnc2 UTSW 4 84,194,582 (GRCm39) missense possibly damaging 0.69
R8463:Bnc2 UTSW 4 84,211,608 (GRCm39) missense probably damaging 0.99
R8676:Bnc2 UTSW 4 84,194,550 (GRCm39) missense possibly damaging 0.65
R8722:Bnc2 UTSW 4 84,211,883 (GRCm39) missense possibly damaging 0.92
R8845:Bnc2 UTSW 4 84,194,338 (GRCm39) missense possibly damaging 0.81
R8887:Bnc2 UTSW 4 84,209,707 (GRCm39) intron probably benign
R9051:Bnc2 UTSW 4 84,210,138 (GRCm39) missense probably benign 0.00
R9142:Bnc2 UTSW 4 84,474,111 (GRCm39) missense probably benign 0.03
R9165:Bnc2 UTSW 4 84,329,731 (GRCm39) missense
R9297:Bnc2 UTSW 4 84,474,136 (GRCm39) intron probably benign
R9638:Bnc2 UTSW 4 84,332,492 (GRCm39) missense probably damaging 1.00
X0021:Bnc2 UTSW 4 84,211,377 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCCGGCTTCGAAGGGAAC -3'
(R):5'- GAACCGAGCATTTCAACTCAGAATG -3'

Sequencing Primer
(F):5'- TTCCGGCTTCGAAGGGAACTAAAG -3'
(R):5'- AGCAGTGAATCTGAAGTATCGCCTAC -3'
Posted On 2017-02-28