Incidental Mutation 'R5155:Banp'
ID396666
Institutional Source Beutler Lab
Gene Symbol Banp
Ensembl Gene ENSMUSG00000025316
Gene NameBTG3 associated nuclear protein
SynonymsSMAR1
MMRRC Submission 042737-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.917) question?
Stock #R5155 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location121949750-122029258 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 122001020 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 318 (S318R)
Ref Sequence ENSEMBL: ENSMUSP00000133783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026354] [ENSMUST00000093078] [ENSMUST00000127664] [ENSMUST00000167711] [ENSMUST00000170857] [ENSMUST00000172628] [ENSMUST00000172681] [ENSMUST00000173254]
Predicted Effect probably damaging
Transcript: ENSMUST00000026354
AA Change: S279R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026354
Gene: ENSMUSG00000025316
AA Change: S279R

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: S279R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090766
Gene: ENSMUSG00000025316
AA Change: S279R

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: S133R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132434
Gene: ENSMUSG00000025316
AA Change: S133R

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: S318R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132095
Gene: ENSMUSG00000025316
AA Change: S318R

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 benign
Transcript: ENSMUST00000172681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173201
Predicted Effect probably damaging
Transcript: ENSMUST00000173254
AA Change: S318R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133783
Gene: ENSMUSG00000025316
AA Change: S318R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174327
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T C 5: 107,490,703 I323T probably damaging Het
Abca13 T C 11: 9,532,447 V4326A probably damaging Het
Actn4 A G 7: 28,962,017 probably null Het
Adamts8 A G 9: 30,954,548 D464G probably benign Het
Adssl1 T C 12: 112,638,208 I366T probably damaging Het
Alox12e T C 11: 70,316,255 D575G possibly damaging Het
Ankrd44 A T 1: 54,778,330 M73K probably benign Het
Ap4e1 A G 2: 127,063,369 T987A probably benign Het
Bcas1 T C 2: 170,418,618 H47R probably damaging Het
Brwd1 G T 16: 96,002,793 S2524* probably null Het
Cand2 T A 6: 115,792,258 D676E probably benign Het
Cc2d1a A T 8: 84,141,126 H224Q probably benign Het
Ccdc138 A T 10: 58,507,572 Y83F probably benign Het
Ccdc155 C A 7: 45,189,654 E53* probably null Het
Ccdc162 A T 10: 41,553,580 probably null Het
Ccdc162 A C 10: 41,579,151 S396A probably damaging Het
Ces1e A T 8: 93,201,406 *562R probably null Het
Clstn2 T A 9: 97,456,431 M892L probably benign Het
Crybg3 T C 16: 59,524,901 T2673A possibly damaging Het
Cstf3 A G 2: 104,652,485 N326S probably benign Het
Cux1 G A 5: 136,565,441 probably benign Het
Cyb5r4 T G 9: 87,040,403 M155R probably benign Het
D130043K22Rik A G 13: 24,872,290 D535G probably damaging Het
D430042O09Rik A G 7: 125,872,184 T1486A probably damaging Het
Dnah2 G A 11: 69,422,536 P4266S probably damaging Het
Dnah7a T A 1: 53,643,495 N272I probably benign Het
Dsg2 A G 18: 20,598,658 Y779C possibly damaging Het
Eif4g3 T A 4: 138,126,743 N507K probably benign Het
Elavl4 T C 4: 110,292,636 Q3R probably null Het
Engase T G 11: 118,481,281 I133S probably benign Het
Ercc5 T C 1: 44,180,622 V1018A probably damaging Het
Ext1 C A 15: 53,075,817 W612L probably damaging Het
Faap100 T A 11: 120,377,632 E105V possibly damaging Het
Fam8a1 G A 13: 46,673,562 A270T probably benign Het
Fhdc1 T G 3: 84,446,150 Q589H probably benign Het
Gatm G A 2: 122,609,853 T35I probably benign Het
Gcgr T C 11: 120,537,046 I271T probably benign Het
Gm21818 T C 13: 120,173,553 S124P probably benign Het
Gm527 T A 12: 64,923,607 Y239N probably damaging Het
H2-Ab1 A G 17: 34,267,384 H139R possibly damaging Het
Herc2 G A 7: 56,227,826 R4547Q possibly damaging Het
Itga1 A T 13: 115,035,303 S89T probably benign Het
Lrba A G 3: 86,351,300 M1365V probably benign Het
Lrp1b A C 2: 41,728,622 probably null Het
Map1a G A 2: 121,302,386 A990T probably damaging Het
Micall2 C A 5: 139,710,231 L784F probably damaging Het
Mmp9 T C 2: 164,949,066 probably null Het
Mrps7 T A 11: 115,604,829 Y64* probably null Het
Mslnl C T 17: 25,738,968 Q62* probably null Het
Nfil3 A G 13: 52,968,580 L96P probably damaging Het
Olfr453 A G 6: 42,744,814 Y259C probably damaging Het
Phf3 T C 1: 30,824,376 D756G possibly damaging Het
Plxnd1 C T 6: 115,958,988 probably null Het
Prickle4 C T 17: 47,690,057 probably null Het
Prr9 T A 3: 92,123,049 T95S possibly damaging Het
Prrc2a A G 17: 35,160,091 probably null Het
Prrt3 A G 6: 113,497,559 probably null Het
Psme4 A T 11: 30,876,806 Y1775F probably damaging Het
Pum2 T C 12: 8,713,572 V243A possibly damaging Het
Rnf32 T C 5: 29,203,147 S125P probably damaging Het
Rnf8 A G 17: 29,626,630 Y65C probably damaging Het
Rph3a T C 5: 120,948,770 T456A possibly damaging Het
Scaper T A 9: 55,556,086 Q854L probably null Het
Sez6l2 T C 7: 126,962,373 S472P probably damaging Het
Spsb3 T C 17: 24,886,995 probably benign Het
Srebf2 A G 15: 82,196,226 D40G probably damaging Het
Sspo A G 6: 48,460,474 N1389D probably benign Het
Taf4b G T 18: 14,830,095 A631S probably benign Het
Tigd4 G A 3: 84,594,663 V296M possibly damaging Het
Tsc22d2 T A 3: 58,417,316 probably benign Het
Uso1 T A 5: 92,167,335 probably null Het
Vmn2r6 T G 3: 64,538,514 N597H probably benign Het
Zfc3h1 T A 10: 115,412,121 S1076R possibly damaging Het
Zfp64 T A 2: 168,906,965 Q44L probably benign Het
Other mutations in Banp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Banp APN 8 122007091 missense probably benign 0.02
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
R5554:Banp UTSW 8 121991595 missense probably damaging 1.00
R6479:Banp UTSW 8 121991437 unclassified 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
R7915:Banp UTSW 8 122020552 missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCAGACCTTTAGGAGTAGGC -3'
(R):5'- TGCTCTTGTCACTGCCTAGG -3'

Sequencing Primer
(F):5'- ACCTTTAGGAGTAGGCCAGCG -3'
(R):5'- TTGTCACTGCCTAGGGAGCTC -3'
Posted On2016-06-21