Incidental Mutation 'IGL02423:Banp'
ID292800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Banp
Ensembl Gene ENSMUSG00000025316
Gene NameBTG3 associated nuclear protein
SynonymsSMAR1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.913) question?
Stock #IGL02423
Quality Score
Status
Chromosome8
Chromosomal Location121949750-122029258 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122007091 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 360 (I360V)
Ref Sequence ENSEMBL: ENSMUSP00000026354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026354] [ENSMUST00000093078] [ENSMUST00000127664] [ENSMUST00000167711] [ENSMUST00000170857] [ENSMUST00000173254]
Predicted Effect probably benign
Transcript: ENSMUST00000026354
AA Change: I360V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000026354
Gene: ENSMUSG00000025316
AA Change: I360V

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: ENSMUST00000093078
SMART Domains Protein: ENSMUSP00000090766
Gene: ENSMUSG00000025316

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 benign
Transcript: ENSMUST00000167711
AA Change: I214V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132434
Gene: ENSMUSG00000025316
AA Change: I214V

DomainStartEndE-ValueType
BEN 72 145 6.7e-21 SMART
low complexity region 155 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170857
AA Change: I399V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132095
Gene: ENSMUSG00000025316
AA Change: I399V

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: ENSMUST00000173201
Predicted Effect probably benign
Transcript: ENSMUST00000173254
AA Change: I399V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133783
Gene: ENSMUSG00000025316
AA Change: I399V

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: ENSMUST00000173396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173925
Coding Region Coverage
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca6 A G 11: 110,219,006 probably benign Het
Adarb2 A T 13: 8,569,720 R81W probably damaging Het
Adgrf4 T C 17: 42,672,576 I72V probably benign Het
Bmp8a C A 4: 123,316,427 G289C possibly damaging Het
Car3 A T 3: 14,866,851 H94L probably damaging Het
Ccdc137 G A 11: 120,460,101 R108H possibly damaging Het
Cdk14 T C 5: 4,888,905 N411S probably benign Het
Col4a2 A G 8: 11,433,800 M907V probably benign Het
Cyp4f17 T A 17: 32,506,949 W19R possibly damaging Het
Dmxl2 A G 9: 54,393,748 S2360P possibly damaging Het
Eif2d T G 1: 131,153,360 probably benign Het
Epx A G 11: 87,871,318 I369T possibly damaging Het
Fcgbp A G 7: 28,089,953 E648G probably benign Het
Fer1l4 G A 2: 156,052,907 P14L probably benign Het
Folr1 A G 7: 101,858,525 F236S probably benign Het
Foxj2 T G 6: 122,842,773 M540R possibly damaging Het
Gm14025 T C 2: 129,048,048 E42G probably benign Het
Gtf2h1 A G 7: 46,815,400 T420A probably benign Het
H2-T3 T A 17: 36,187,356 T222S probably damaging Het
Ice1 A T 13: 70,592,599 M2163K probably damaging Het
Inppl1 A G 7: 101,832,243 V244A probably benign Het
Kansl3 A T 1: 36,351,969 V373D probably damaging Het
Kdm3a A G 6: 71,614,003 probably benign Het
Krtap1-3 A T 11: 99,590,854 C156S unknown Het
Mab21l3 T C 3: 101,818,729 D317G probably damaging Het
Nox3 T C 17: 3,682,916 H240R probably damaging Het
Nxn A T 11: 76,274,032 S218T probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Olfr781 G A 10: 129,333,528 V216I probably benign Het
Pcdhb13 T C 18: 37,444,339 V590A possibly damaging Het
Pim3 T C 15: 88,863,531 V200A probably benign Het
Plekha3 T C 2: 76,680,180 F20L probably damaging Het
Pmp22 G T 11: 63,158,292 R120S possibly damaging Het
Ppp1r9a A C 6: 4,906,537 D364A probably benign Het
Psd A G 19: 46,314,504 F155L possibly damaging Het
Rbm22 T C 18: 60,571,819 probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Ryr2 A T 13: 11,745,198 F1556I probably damaging Het
Scap G A 9: 110,378,617 A465T probably benign Het
Sdf2 A G 11: 78,251,018 S60G probably damaging Het
Sema3a T C 5: 13,565,809 I400T probably damaging Het
Ski T C 4: 155,159,734 D478G probably damaging Het
Slc12a7 A T 13: 73,763,763 probably benign Het
Slc9a3r1 A G 11: 115,163,713 probably null Het
Sned1 A G 1: 93,283,600 T1074A probably benign Het
Srebf2 A G 15: 82,175,097 T239A probably damaging Het
Stk4 C T 2: 164,086,499 H84Y probably benign Het
Syne1 G T 10: 5,368,295 Q444K probably benign Het
Tecpr1 T A 5: 144,203,487 I817F possibly damaging Het
Tep1 G T 14: 50,844,620 Q1159K possibly damaging Het
Tmem39b G A 4: 129,678,649 H387Y probably damaging Het
Tpp1 T C 7: 105,749,700 H174R probably damaging Het
Ttn C T 2: 76,705,273 V35134I probably benign Het
Usp34 A G 11: 23,354,900 I378V probably benign Het
Vmn2r1 T A 3: 64,090,244 H440Q probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 D144E possibly damaging Het
Zic4 C A 9: 91,384,175 H284N probably damaging Het
Zkscan6 A G 11: 65,828,294 H380R probably benign Het
Other mutations in Banp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02981:Banp APN 8 121978564 missense possibly damaging 0.89
PIT4418001:Banp UTSW 8 122005626 missense probably damaging 1.00
R0926:Banp UTSW 8 122020555 missense probably benign
R1209:Banp UTSW 8 121975917 missense possibly damaging 0.79
R1635:Banp UTSW 8 122001011 missense probably damaging 1.00
R2229:Banp UTSW 8 121978685 missense probably damaging 0.99
R2269:Banp UTSW 8 121975923 missense probably benign 0.01
R3052:Banp UTSW 8 122005687 splice site probably null
R5155:Banp UTSW 8 122001020 missense probably damaging 1.00
R5554:Banp UTSW 8 121991595 missense probably damaging 1.00
R6479:Banp UTSW 8 121991437 splice site probably null
R7376:Banp UTSW 8 121974497 missense probably damaging 0.99
R7468:Banp UTSW 8 121949849 critical splice donor site probably null
R7646:Banp UTSW 8 122024036 missense possibly damaging 0.94
R7702:Banp UTSW 8 121978587 nonsense probably null
R7832:Banp UTSW 8 122020552 missense probably benign
Posted On2015-04-16