Incidental Mutation 'R1635:Banp'
ID 173080
Institutional Source Beutler Lab
Gene Symbol Banp
Ensembl Gene ENSMUSG00000025316
Gene Name BTG3 associated nuclear protein
Synonyms SMAR1
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R1635 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 122676489-122755997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122727750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 130 (I130F)
Ref Sequence ENSEMBL: ENSMUSP00000132434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026354] [ENSMUST00000093078] [ENSMUST00000127664] [ENSMUST00000167711] [ENSMUST00000170857] [ENSMUST00000172628] [ENSMUST00000173254] [ENSMUST00000172681]
AlphaFold Q8VBU8
Predicted Effect probably damaging
Transcript: ENSMUST00000026354
AA Change: I276F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026354
Gene: ENSMUSG00000025316
AA Change: I276F

DomainStartEndE-ValueType
coiled coil region 61 98 N/A INTRINSIC
low complexity region 144 157 N/A INTRINSIC
BEN 218 291 6.7e-21 SMART
low complexity region 301 315 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093078
AA Change: I276F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090766
Gene: ENSMUSG00000025316
AA Change: I276F

DomainStartEndE-ValueType
coiled coil region 61 98 N/A INTRINSIC
low complexity region 144 157 N/A INTRINSIC
BEN 218 291 6.7e-21 SMART
low complexity region 301 315 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167711
AA Change: I130F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132434
Gene: ENSMUSG00000025316
AA Change: I130F

DomainStartEndE-ValueType
BEN 72 145 6.7e-21 SMART
low complexity region 155 169 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170857
AA Change: I315F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132095
Gene: ENSMUSG00000025316
AA Change: I315F

DomainStartEndE-ValueType
coiled coil region 61 98 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
BEN 257 330 6.7e-21 SMART
low complexity region 340 354 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172628
SMART Domains Protein: ENSMUSP00000133342
Gene: ENSMUSG00000025316

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
coiled coil region 99 136 N/A INTRINSIC
low complexity region 182 195 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173254
AA Change: I315F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133783
Gene: ENSMUSG00000025316
AA Change: I315F

DomainStartEndE-ValueType
coiled coil region 61 98 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
BEN 257 330 6.7e-21 SMART
low complexity region 340 354 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173396
Predicted Effect probably benign
Transcript: ENSMUST00000172681
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,334,868 (GRCm39) I1947F probably benign Het
Adgrd1 G T 5: 129,205,971 (GRCm39) V182F probably damaging Het
Agmat A G 4: 141,474,380 (GRCm39) D87G probably damaging Het
AI182371 T C 2: 34,978,749 (GRCm39) probably null Het
Anapc1 G T 2: 128,470,452 (GRCm39) H1559Q probably damaging Het
Ankar T C 1: 72,689,297 (GRCm39) Y1278C probably damaging Het
Arhgef2 A T 3: 88,546,628 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
C130050O18Rik G T 5: 139,400,248 (GRCm39) R100S probably benign Het
Carmil3 A G 14: 55,733,739 (GRCm39) T374A possibly damaging Het
Cc2d2a T A 5: 43,879,812 (GRCm39) W1076R probably damaging Het
Cdc34 T G 10: 79,523,888 (GRCm39) S235A probably benign Het
Cdh8 G T 8: 99,757,656 (GRCm39) H647Q probably damaging Het
Cdk1 A T 10: 69,174,377 (GRCm39) L282Q probably damaging Het
Ceacam3 A G 7: 16,893,902 (GRCm39) D471G probably damaging Het
Ciao2b A T 8: 105,367,620 (GRCm39) I108N possibly damaging Het
Cltc A T 11: 86,648,105 (GRCm39) I4N probably benign Het
Cntfr T A 4: 41,658,816 (GRCm39) E305V probably damaging Het
Cwh43 T A 5: 73,591,653 (GRCm39) I496N probably damaging Het
Cyp2f2 A G 7: 26,829,149 (GRCm39) N218S probably benign Het
D16Ertd472e A G 16: 78,343,392 (GRCm39) probably null Het
Dab2 A G 15: 6,459,351 (GRCm39) Q400R possibly damaging Het
Dapl1 A T 2: 59,326,906 (GRCm39) I51F probably benign Het
Drc7 G A 8: 95,800,960 (GRCm39) probably null Het
Etl4 A G 2: 20,811,219 (GRCm39) T1101A probably damaging Het
Fam83c C A 2: 155,671,971 (GRCm39) R488M possibly damaging Het
Fbxo42 A G 4: 140,927,840 (GRCm39) T707A probably damaging Het
Fcmr A T 1: 130,803,922 (GRCm39) probably null Het
Fer1l6 G C 15: 58,518,930 (GRCm39) K1687N probably damaging Het
Fgd4 G A 16: 16,292,893 (GRCm39) R275* probably null Het
Fxr2 G A 11: 69,532,139 (GRCm39) C87Y possibly damaging Het
Gja4 A T 4: 127,206,472 (GRCm39) I97N probably damaging Het
Gm136 A G 4: 34,750,919 (GRCm39) probably null Het
Gm14496 A G 2: 181,642,837 (GRCm39) D836G possibly damaging Het
Grm3 T A 5: 9,561,520 (GRCm39) T777S probably damaging Het
Guca2b A G 4: 119,514,912 (GRCm39) Y50H probably damaging Het
Herc2 C T 7: 55,786,415 (GRCm39) P1587S probably benign Het
Hmcn1 C T 1: 150,545,309 (GRCm39) S2766N probably benign Het
Idi2 T A 13: 9,009,455 (GRCm39) I224K probably damaging Het
Kmt2a A T 9: 44,735,666 (GRCm39) probably benign Het
Lonp2 A T 8: 87,440,078 (GRCm39) M693L possibly damaging Het
Megf8 G T 7: 25,046,172 (GRCm39) M1525I possibly damaging Het
Mgme1 T C 2: 144,121,018 (GRCm39) V276A possibly damaging Het
Mief2 G T 11: 60,622,234 (GRCm39) W268L probably damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mreg T C 1: 72,231,356 (GRCm39) N34S probably benign Het
Myf6 T C 10: 107,330,534 (GRCm39) Y11C probably damaging Het
Myh9 C A 15: 77,655,367 (GRCm39) Q1196H probably benign Het
Myh9 A T 15: 77,660,099 (GRCm39) D56E probably benign Het
Myo5c A T 9: 75,184,357 (GRCm39) R949S probably benign Het
Ncapg2 TAA TA 12: 116,398,305 (GRCm39) probably null Het
Nfx1 T A 4: 40,977,004 (GRCm39) V226E probably benign Het
Nlrp10 T A 7: 108,523,737 (GRCm39) K581M possibly damaging Het
Nmd3 T G 3: 69,647,317 (GRCm39) I273S probably benign Het
Or4c3 A T 2: 89,852,314 (GRCm39) I32N possibly damaging Het
P4hb T C 11: 120,462,442 (GRCm39) E88G probably damaging Het
Pcnx3 A T 19: 5,715,773 (GRCm39) H1444Q probably benign Het
Pdia4 A T 6: 47,776,133 (GRCm39) F421L possibly damaging Het
Picalm T A 7: 89,840,459 (GRCm39) S538T probably damaging Het
Ppp2r2b T A 18: 43,192,275 (GRCm39) I11F probably benign Het
Prb1c A G 6: 132,339,969 (GRCm39) probably null Het
Ptk7 C T 17: 46,884,460 (GRCm39) E757K possibly damaging Het
Rbm22 T G 18: 60,694,340 (GRCm39) C24W probably damaging Het
Rev3l A G 10: 39,682,658 (GRCm39) D288G probably damaging Het
Rgs18 T A 1: 144,629,791 (GRCm39) H156L probably benign Het
Rnf213 A G 11: 119,333,405 (GRCm39) I2871M probably damaging Het
Rrm2b A T 15: 37,945,328 (GRCm39) M137K probably damaging Het
Rrp12 A T 19: 41,857,224 (GRCm39) D1183E probably benign Het
Sacs G A 14: 61,441,277 (GRCm39) V1108M probably damaging Het
Scube2 A T 7: 109,442,421 (GRCm39) D270E possibly damaging Het
Serpina3a T A 12: 104,082,737 (GRCm39) F170Y probably damaging Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slamf8 C T 1: 172,412,186 (GRCm39) V130M probably damaging Het
Slc5a3 T C 16: 91,874,284 (GRCm39) S114P possibly damaging Het
Sos1 T A 17: 80,730,108 (GRCm39) probably null Het
Sox10 A T 15: 79,040,660 (GRCm39) D293E probably damaging Het
Sphk1 A G 11: 116,426,596 (GRCm39) D177G probably damaging Het
Sphkap T G 1: 83,256,121 (GRCm39) M543L probably benign Het
Syt13 A T 2: 92,783,760 (GRCm39) K343N probably damaging Het
Tatdn3 A G 1: 190,792,373 (GRCm39) M34T probably benign Het
Timd4 T G 11: 46,732,989 (GRCm39) V305G possibly damaging Het
Tnnc2 T C 2: 164,619,512 (GRCm39) I111V probably benign Het
Togaram2 C T 17: 72,004,846 (GRCm39) P301L probably benign Het
Trpc3 T C 3: 36,694,776 (GRCm39) N726S probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ugt1a5 T A 1: 88,093,805 (GRCm39) probably benign Het
Ulk3 A T 9: 57,500,443 (GRCm39) probably null Het
Unc5d T A 8: 29,250,777 (GRCm39) I297L probably benign Het
Usp20 A G 2: 30,908,830 (GRCm39) I804V probably benign Het
Usp22 G T 11: 61,052,144 (GRCm39) C278* probably null Het
Usp53 A T 3: 122,727,872 (GRCm39) N903K probably benign Het
V1rd19 T C 7: 23,702,812 (GRCm39) F93L probably benign Het
Zdbf2 T A 1: 63,343,493 (GRCm39) V624E possibly damaging Het
Zfyve16 A T 13: 92,645,528 (GRCm39) S1073T probably damaging Het
Zkscan8 T C 13: 21,710,765 (GRCm39) H115R possibly damaging Het
Other mutations in Banp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Banp APN 8 122,733,830 (GRCm39) missense probably benign 0.02
IGL02981:Banp APN 8 122,705,303 (GRCm39) missense possibly damaging 0.89
PIT4418001:Banp UTSW 8 122,732,365 (GRCm39) missense probably damaging 1.00
R0926:Banp UTSW 8 122,747,294 (GRCm39) missense probably benign
R1209:Banp UTSW 8 122,702,656 (GRCm39) missense possibly damaging 0.79
R2229:Banp UTSW 8 122,705,424 (GRCm39) missense probably damaging 0.99
R2269:Banp UTSW 8 122,702,662 (GRCm39) missense probably benign 0.01
R3052:Banp UTSW 8 122,732,426 (GRCm39) splice site probably null
R5155:Banp UTSW 8 122,727,759 (GRCm39) missense probably damaging 1.00
R5554:Banp UTSW 8 122,718,334 (GRCm39) missense probably damaging 1.00
R6479:Banp UTSW 8 122,718,176 (GRCm39) splice site probably null
R7376:Banp UTSW 8 122,701,236 (GRCm39) missense probably damaging 0.99
R7468:Banp UTSW 8 122,676,588 (GRCm39) critical splice donor site probably null
R7646:Banp UTSW 8 122,750,775 (GRCm39) missense possibly damaging 0.94
R7702:Banp UTSW 8 122,705,326 (GRCm39) nonsense probably null
R7832:Banp UTSW 8 122,747,291 (GRCm39) missense probably benign
R8784:Banp UTSW 8 122,727,852 (GRCm39) missense probably damaging 0.98
R8793:Banp UTSW 8 122,750,743 (GRCm39) missense probably benign 0.01
R9005:Banp UTSW 8 122,705,441 (GRCm39) missense possibly damaging 0.76
R9106:Banp UTSW 8 122,705,372 (GRCm39) missense possibly damaging 0.62
R9790:Banp UTSW 8 122,701,285 (GRCm39) missense probably benign 0.00
R9791:Banp UTSW 8 122,701,285 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAGACCTTTAGGAGTAGGCCAGC -3'
(R):5'- CAGTGTAAATAGGCAGGCCCTGTG -3'

Sequencing Primer
(F):5'- GTAGGCCAGCGGCTCAG -3'
(R):5'- AGGCCAGCCTCACTGAC -3'
Posted On 2014-04-24