Incidental Mutation 'R4546:Bnc2'
ID 333759
Institutional Source Beutler Lab
Gene Symbol Bnc2
Ensembl Gene ENSMUSG00000028487
Gene Name basonuclin zinc finger protein 2
Synonyms 8430420F16Rik, 5031434M05Rik
MMRRC Submission 041780-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4546 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 84193332-84593512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84210213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 744 (F744L)
Ref Sequence ENSEMBL: ENSMUSP00000135778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102820] [ENSMUST00000107198] [ENSMUST00000175800] [ENSMUST00000175969] [ENSMUST00000176418] [ENSMUST00000176612] [ENSMUST00000176691] [ENSMUST00000176947] [ENSMUST00000176998] [ENSMUST00000176971] [ENSMUST00000176601]
AlphaFold Q8BMQ3
Predicted Effect probably benign
Transcript: ENSMUST00000102820
AA Change: F814L

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: F814L

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 probably benign
Transcript: ENSMUST00000107198
AA Change: F786L

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: F786L

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 unknown
Transcript: ENSMUST00000176702
AA Change: F57L
SMART Domains Protein: ENSMUSP00000134774
Gene: ENSMUSG00000028487
AA Change: F57L

DomainStartEndE-ValueType
ZnF_C2H2 105 128 1.62e0 SMART
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176612
AA Change: F744L

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
AA Change: F744L

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 probably benign
Transcript: ENSMUST00000176691
AA Change: F719L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: F719L

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 noncoding transcript
Transcript: ENSMUST00000176476
Predicted Effect probably benign
Transcript: ENSMUST00000177277
Predicted Effect probably benign
Transcript: ENSMUST00000176947
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
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: ENSMUST00000176601
SMART Domains Protein: ENSMUSP00000135480
Gene: ENSMUSG00000028487

DomainStartEndE-ValueType
ZnF_C2H2 12 35 1.62e0 SMART
low complexity region 53 67 N/A INTRINSIC
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (65/67)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G A 14: 70,393,927 (GRCm39) S236L probably benign Het
Ahcyl C T 16: 45,974,330 (GRCm39) C349Y possibly damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Alpi T A 1: 87,026,839 (GRCm39) Y413F probably damaging Het
Asmt T C X: 169,110,230 (GRCm39) probably null Het
Atf7 A G 15: 102,442,762 (GRCm39) V449A probably benign Het
Ccnyl1 G T 1: 64,762,735 (GRCm39) M347I probably benign Het
Cdk13 T C 13: 17,941,159 (GRCm39) K21R probably damaging Het
Cenpf A C 1: 189,386,847 (GRCm39) L1811R probably damaging Het
Cfap91 C T 16: 38,155,885 (GRCm39) V113I probably benign Het
Cr2 A G 1: 194,853,349 (GRCm39) I43T possibly damaging Het
Cspg4 T A 9: 56,795,913 (GRCm39) L1216Q possibly damaging Het
Cylc2 A T 4: 51,229,840 (GRCm39) D394V unknown Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dcaf8 T C 1: 172,007,460 (GRCm39) probably benign Het
Dlec1 A T 9: 118,957,146 (GRCm39) I796F probably damaging Het
Dnah12 A T 14: 26,494,971 (GRCm39) Q1343L probably damaging Het
Dnajc21 T C 15: 10,447,183 (GRCm39) R522G probably benign Het
F2rl3 C T 8: 73,489,211 (GRCm39) A146V probably benign Het
Fastkd1 C T 2: 69,542,655 (GRCm39) E51K probably damaging Het
Glrb T C 3: 80,786,993 (GRCm39) S57G probably damaging Het
Gm5507 T A 18: 54,117,409 (GRCm39) noncoding transcript Het
Golga4 A G 9: 118,385,913 (GRCm39) K22E probably damaging Het
Hdac1-ps A T 17: 78,800,388 (GRCm39) T460S probably benign Het
Ift122 T A 6: 115,867,549 (GRCm39) L433Q probably damaging Het
Il21r A G 7: 125,228,071 (GRCm39) R181G probably damaging Het
Il5ra G T 6: 106,715,459 (GRCm39) S125* probably null Het
Kdm7a T C 6: 39,152,406 (GRCm39) R97G probably benign Het
Lepr T A 4: 101,671,838 (GRCm39) I954N probably benign Het
Lims1 T C 10: 58,254,612 (GRCm39) probably benign Het
Mest T C 6: 30,740,679 (GRCm39) W13R probably damaging Het
Mfn2 A G 4: 147,971,909 (GRCm39) V224A probably benign Het
Muc15 T C 2: 110,567,844 (GRCm39) S330P probably damaging Het
Ncapg T C 5: 45,828,554 (GRCm39) F102L probably damaging Het
Nkd2 T C 13: 73,971,475 (GRCm39) D187G probably benign Het
Nphp1 C T 2: 127,607,939 (GRCm39) probably null Het
Or10ag59 T C 2: 87,405,530 (GRCm39) F34S probably benign Het
Or1e19 T C 11: 73,316,012 (GRCm39) N266D probably benign Het
Or2a12 C T 6: 42,904,348 (GRCm39) S61L probably damaging Het
Osbpl6 T C 2: 76,414,836 (GRCm39) V409A possibly damaging Het
Pdhx A T 2: 102,903,742 (GRCm39) L18Q probably null Het
Pear1 C T 3: 87,661,968 (GRCm39) G469D probably damaging Het
Plec T C 15: 76,065,757 (GRCm39) T1506A probably benign Het
Plod3 T A 5: 137,017,801 (GRCm39) D192E possibly damaging Het
Rbks T C 5: 31,781,912 (GRCm39) N296S probably benign Het
Sema3c G A 5: 17,899,770 (GRCm39) V421I probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Tmem200c A G 17: 69,149,166 (GRCm39) D583G probably benign Het
Trpm6 A G 19: 18,809,841 (GRCm39) Y1079C probably damaging Het
Ttn T C 2: 76,652,932 (GRCm39) probably null Het
Vcp T C 4: 42,988,813 (GRCm39) probably benign Het
Vmn2r78 T C 7: 86,603,811 (GRCm39) V663A probably damaging Het
Vmn2r9 T G 5: 108,995,551 (GRCm39) M366L probably benign Het
Wdr11 A G 7: 129,230,729 (GRCm39) E878G probably damaging Het
Zan C G 5: 137,382,096 (GRCm39) M5150I unknown 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
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
R5921:Bnc2 UTSW 4 84,211,292 (GRCm39) missense possibly damaging 0.95
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'- TGAAGCTCTTCTTGCACACATAAC -3'
(R):5'- AGTATGACGTCTGAGGACCAG -3'

Sequencing Primer
(F):5'- CACATAACAGATTTTGGGGTCTGGAC -3'
(R):5'- TATGAGAACGAGTCCGAATCCTCAG -3'
Posted On 2015-08-18