Incidental Mutation 'R6869:Bnc2'
ID 536071
Institutional Source Beutler Lab
Gene Symbol Bnc2
Ensembl Gene ENSMUSG00000028487
Gene Name basonuclin zinc finger protein 2
Synonyms 8430420F16Rik, 5031434M05Rik
MMRRC Submission 044966-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6869 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 84193332-84593512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84211733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 212 (D212V)
Ref Sequence ENSEMBL: ENSMUSP00000135375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102820] [ENSMUST00000107198] [ENSMUST00000175800] [ENSMUST00000175969] [ENSMUST00000176418] [ENSMUST00000176601] [ENSMUST00000176691] [ENSMUST00000176612] [ENSMUST00000176947] [ENSMUST00000176971] [ENSMUST00000176998]
AlphaFold Q8BMQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000102820
AA Change: D307V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: D307V

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 damaging
Transcript: ENSMUST00000107198
AA Change: D279V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: D279V

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 possibly damaging
Transcript: ENSMUST00000175800
AA Change: D201V

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134795
Gene: ENSMUSG00000028487
AA Change: D201V

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 damaging
Transcript: ENSMUST00000176418
AA Change: D312V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135569
Gene: ENSMUSG00000028487
AA Change: D312V

DomainStartEndE-ValueType
low complexity region 367 383 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
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 damaging
Transcript: ENSMUST00000176691
AA Change: D212V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: D212V

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 damaging
Transcript: ENSMUST00000176612
AA Change: D237V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
AA Change: D237V

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: 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: ENSMUST00000176947
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: 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: ENSMUST00000177277
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (61/63)
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
Aadacl4fm5 A T 4: 144,507,042 (GRCm39) probably null Het
Ankdd1b A T 13: 96,580,799 (GRCm39) N166K possibly damaging Het
Arhgap30 G T 1: 171,236,623 (GRCm39) R999L probably damaging Het
Bpifb5 T C 2: 154,075,143 (GRCm39) I357T probably benign Het
Catsperb T C 12: 101,446,996 (GRCm39) F208S probably benign Het
Cc2d2b T A 19: 40,797,898 (GRCm39) H1105Q probably benign Het
Chchd6 T C 6: 89,572,478 (GRCm39) D17G probably damaging Het
Chd6 T C 2: 160,807,650 (GRCm39) S1855G probably benign Het
Cpe A G 8: 65,072,461 (GRCm39) V143A probably benign Het
Cyfip1 T A 7: 55,557,113 (GRCm39) V770D possibly damaging Het
Cyp1a1 A T 9: 57,610,067 (GRCm39) M494L probably benign Het
Dcstamp T C 15: 39,617,854 (GRCm39) S88P probably damaging Het
Dnah2 T A 11: 69,320,297 (GRCm39) N3924I probably damaging Het
F830045P16Rik T C 2: 129,316,481 (GRCm39) E76G probably damaging Het
Fam91a1 T A 15: 58,303,117 (GRCm39) V342E probably benign Het
Fastkd1 G A 2: 69,533,104 (GRCm39) A421V probably benign Het
Fgf20 T C 8: 40,734,189 (GRCm39) Y64C probably damaging Het
Gen1 A T 12: 11,291,442 (GRCm39) N847K probably benign Het
Gm4922 A T 10: 18,660,263 (GRCm39) I153K probably damaging Het
Gm6619 T C 6: 131,463,401 (GRCm39) I6T unknown Het
H2-Ab1 T C 17: 34,486,537 (GRCm39) Y199H probably damaging Het
Hdac7 C A 15: 97,694,057 (GRCm39) L737F probably damaging Het
Hells A G 19: 38,929,079 (GRCm39) N121D probably benign Het
Itga2 G A 13: 115,012,073 (GRCm39) probably null Het
Itgb1 A G 8: 129,446,516 (GRCm39) D391G probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lbx1 T A 19: 45,223,390 (GRCm39) S93C probably damaging Het
Lmod2 T C 6: 24,604,126 (GRCm39) M367T probably benign Het
Lrrc43 G A 5: 123,642,339 (GRCm39) probably null Het
Man2a2 C T 7: 80,012,693 (GRCm39) G574D probably benign Het
Mier2 T G 10: 79,378,503 (GRCm39) K343T probably damaging Het
Msh5 A T 17: 35,260,810 (GRCm39) probably null Het
Mtus1 T C 8: 41,535,691 (GRCm39) Q675R possibly damaging Het
Ncan A T 8: 70,560,557 (GRCm39) H803Q probably benign Het
Nckap5l A G 15: 99,324,334 (GRCm39) V723A probably damaging Het
Nectin3 G A 16: 46,215,506 (GRCm39) R79C probably damaging Het
Nlrc5 A G 8: 95,248,583 (GRCm39) E1735G probably benign Het
Nrros A G 16: 31,963,249 (GRCm39) L220S probably damaging Het
Or52r1c G A 7: 102,735,075 (GRCm39) V112M possibly damaging Het
Or5aq1b T A 2: 86,902,017 (GRCm39) I154F probably benign Het
Oxa1l C T 14: 54,604,195 (GRCm39) P152S probably damaging Het
Pdcd6ip A G 9: 113,484,174 (GRCm39) Y818H unknown Het
Pik3cb A T 9: 98,942,312 (GRCm39) S682T probably benign Het
Ppp1r3a A C 6: 14,754,825 (GRCm39) S141A probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Ptprk T C 10: 28,349,055 (GRCm39) probably null Het
Ranbp17 T C 11: 33,463,074 (GRCm39) probably benign Het
Rcbtb1 T C 14: 59,455,051 (GRCm39) V95A probably benign Het
Retreg3 G A 11: 101,010,644 (GRCm39) probably benign Het
Rhobtb1 T C 10: 69,106,056 (GRCm39) L207P probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Sh3bgr A G 16: 96,007,860 (GRCm39) Y75C probably damaging Het
Strip1 T C 3: 107,520,761 (GRCm39) D763G probably damaging Het
Stxbp5l A T 16: 37,024,810 (GRCm39) V596E possibly damaging Het
Tas2r138 A G 6: 40,589,355 (GRCm39) I297T probably damaging Het
Topors A C 4: 40,261,201 (GRCm39) N694K unknown Het
Tymp T C 15: 89,260,894 (GRCm39) R20G probably benign Het
Ubr4 A G 4: 139,194,538 (GRCm39) T1144A possibly damaging Het
Unc79 A T 12: 103,079,331 (GRCm39) Q1636L probably benign Het
Vmn1r78 A G 7: 11,886,676 (GRCm39) M96V probably benign Het
Wfdc8 C T 2: 164,441,012 (GRCm39) D244N possibly damaging Het
Zbtb49 G T 5: 38,371,694 (GRCm39) N62K probably damaging Het
Zfp579 G T 7: 4,997,460 (GRCm39) D150E probably benign 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
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
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'- GAAATGCTCGGTTCCCTCAG -3'
(R):5'- GCACCTTCAGTTGCATTGAG -3'

Sequencing Primer
(F):5'- TCCAAAAGCAGCCCGTTGG -3'
(R):5'- CCTTCAGTTGCATTGAGTAATTATGC -3'
Posted On 2018-10-18