Incidental Mutation 'R5872:Bnc2'
ID 455227
Institutional Source Beutler Lab
Gene Symbol Bnc2
Ensembl Gene ENSMUSG00000028487
Gene Name basonuclin zinc finger protein 2
Synonyms 8430420F16Rik, 5031434M05Rik
MMRRC Submission 044079-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5872 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 84193332-84593512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84211007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 479 (V479A)
Ref Sequence ENSEMBL: ENSMUSP00000135778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102820] [ENSMUST00000107198] [ENSMUST00000175800] [ENSMUST00000175969] [ENSMUST00000176418] [ENSMUST00000176691] [ENSMUST00000176612] [ENSMUST00000176601] [ENSMUST00000176971] [ENSMUST00000176947] [ENSMUST00000176998]
AlphaFold Q8BMQ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000102820
AA Change: V549A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: V549A

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: V521A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: V521A

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 noncoding transcript
Transcript: ENSMUST00000176476
Predicted Effect possibly damaging
Transcript: ENSMUST00000176691
AA Change: V454A

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: V454A

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 possibly damaging
Transcript: ENSMUST00000176612
AA Change: V479A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
AA Change: V479A

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: ENSMUST00000177277
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: 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: 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: ENSMUST00000176702
SMART Domains Protein: ENSMUSP00000134774
Gene: ENSMUSG00000028487

DomainStartEndE-ValueType
ZnF_C2H2 105 128 1.62e0 SMART
low complexity region 146 160 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,382,309 (GRCm39) S1219P possibly damaging Het
A2ml1 A G 6: 128,538,489 (GRCm39) Y644H probably damaging Het
Abca9 T G 11: 110,007,902 (GRCm39) R1232S possibly damaging Het
Acsf2 C T 11: 94,463,975 (GRCm39) V70M probably benign Het
Ampd1 A G 3: 102,986,446 (GRCm39) I42V probably benign Het
Arhgap10 A G 8: 78,071,267 (GRCm39) probably null Het
Atp1a4 A T 1: 172,071,975 (GRCm39) L432Q probably damaging Het
Bbs12 T A 3: 37,374,598 (GRCm39) C349S possibly damaging Het
Cald1 A T 6: 34,748,043 (GRCm39) K761* probably null Het
Cd177 C T 7: 24,451,688 (GRCm39) G443R probably null Het
Cdc42bpb T C 12: 111,292,410 (GRCm39) D375G probably damaging Het
Chsy3 T C 18: 59,309,268 (GRCm39) Y174H probably damaging Het
Cmya5 T C 13: 93,233,943 (GRCm39) M382V probably benign Het
Col1a2 G A 6: 4,531,926 (GRCm39) S782N unknown Het
Crtac1 C T 19: 42,297,629 (GRCm39) probably null Het
Csmd3 T A 15: 47,445,923 (GRCm39) D3683V probably damaging Het
Ctrc A G 4: 141,572,354 (GRCm39) L62P probably damaging Het
Cyp3a57 A T 5: 145,307,867 (GRCm39) K208* probably null Het
Dnaaf2 A T 12: 69,244,122 (GRCm39) L313Q probably damaging Het
Dtl A G 1: 191,278,680 (GRCm39) L394P probably benign Het
Ehhadh T C 16: 21,585,305 (GRCm39) E192G probably benign Het
Fads2 T C 19: 10,059,997 (GRCm39) I226V probably benign Het
Fat2 T C 11: 55,161,208 (GRCm39) E3174G probably damaging Het
Galnt14 C T 17: 73,881,826 (GRCm39) R91Q probably damaging Het
Hdhd5 G T 6: 120,487,252 (GRCm39) D368E probably benign Het
Hk3 T A 13: 55,158,617 (GRCm39) I528F probably damaging Het
Il10ra A C 9: 45,166,951 (GRCm39) S533R possibly damaging Het
Itpr3 G T 17: 27,305,950 (GRCm39) K169N probably benign Het
Lrrc17 A G 5: 21,780,264 (GRCm39) T413A probably benign Het
Mcm2 C T 6: 88,861,053 (GRCm39) D882N probably benign Het
Met T C 6: 17,562,197 (GRCm39) V1186A probably damaging Het
Msh5 C T 17: 35,248,628 (GRCm39) probably null Het
Nav3 T C 10: 109,600,648 (GRCm39) I1326M probably damaging Het
Nek10 A G 14: 14,850,896 (GRCm38) I314V probably benign Het
Or10g1 A C 14: 52,648,225 (GRCm39) F35V probably damaging Het
Or8b53 T A 9: 38,667,412 (GRCm39) Y143N probably benign Het
Pim1 A G 17: 29,712,720 (GRCm39) E211G probably damaging Het
Plaat1 T A 16: 29,039,189 (GRCm39) Y90N probably benign Het
Ppp1r12b A T 1: 134,704,144 (GRCm39) D903E probably benign Het
Ptpn14 T C 1: 189,583,229 (GRCm39) L692P probably benign Het
Ptprt A G 2: 161,977,138 (GRCm39) C387R probably damaging Het
Qrfprl A G 6: 65,418,369 (GRCm39) probably benign Het
Scarb1 A G 5: 125,381,341 (GRCm39) Y68H possibly damaging Het
Shisa6 T A 11: 66,108,800 (GRCm39) D359V probably damaging Het
Shprh T C 10: 11,063,817 (GRCm39) S1297P probably damaging Het
Sik1 T C 17: 32,069,125 (GRCm39) D250G probably damaging Het
Slamf7 A G 1: 171,466,635 (GRCm39) L190S probably damaging Het
Slc22a3 G A 17: 12,652,355 (GRCm39) P423L probably damaging Het
Slc35e2 A T 4: 155,697,137 (GRCm39) E217V probably damaging Het
Spocd1 A T 4: 129,850,254 (GRCm39) N760I probably damaging Het
Tas2r136 G T 6: 132,754,294 (GRCm39) P278T possibly damaging Het
Tchhl1 A T 3: 93,377,836 (GRCm39) Q180L probably benign Het
Tmem151b T A 17: 45,858,010 (GRCm39) T79S probably benign Het
Tomm70a T A 16: 56,965,105 (GRCm39) C430S probably benign Het
Trbv16 T A 6: 41,128,936 (GRCm39) L40Q probably damaging Het
Trmt1l T G 1: 151,316,594 (GRCm39) I32S probably damaging Het
Ubr4 A G 4: 139,152,641 (GRCm39) T2011A probably damaging Het
Urb1 C T 16: 90,569,652 (GRCm39) W1358* probably null Het
Usp31 T G 7: 121,248,698 (GRCm39) H915P probably benign Het
Vmn2r10 A T 5: 109,151,377 (GRCm39) M79K possibly damaging Het
Vmn2r14 A G 5: 109,369,222 (GRCm39) I117T probably benign Het
Vps13b A G 15: 35,869,497 (GRCm39) H2667R possibly damaging Het
Vwa5b1 G A 4: 138,305,962 (GRCm39) T912M possibly damaging Het
Zfp709 G A 8: 72,643,363 (GRCm39) C264Y probably benign Het
Zkscan5 A G 5: 145,156,898 (GRCm39) I467V probably benign Het
Zxdc A T 6: 90,347,281 (GRCm39) D214V 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
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'- ACTGGTCGGAATGATGGGAC -3'
(R):5'- GTTCACCTGAAGATTAAACACCG -3'

Sequencing Primer
(F):5'- AGGTTGGAGGACTCACCATTTCC -3'
(R):5'- CACCGATGTACCATTGAAGGTTGC -3'
Posted On 2017-02-10