Incidental Mutation 'R7376:Banp'
ID 572397
Institutional Source Beutler Lab
Gene Symbol Banp
Ensembl Gene ENSMUSG00000025316
Gene Name BTG3 associated nuclear protein
Synonyms SMAR1
MMRRC Submission 045459-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R7376 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 122676489-122755997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122701236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 39 (M39K)
Ref Sequence ENSEMBL: ENSMUSP00000133342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026354] [ENSMUST00000093078] [ENSMUST00000127664] [ENSMUST00000170857] [ENSMUST00000172511] [ENSMUST00000172628] [ENSMUST00000172681] [ENSMUST00000173254] [ENSMUST00000174445] [ENSMUST00000174753]
AlphaFold Q8VBU8
Predicted Effect probably null
Transcript: ENSMUST00000026354
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026354
Gene: ENSMUSG00000025316
AA Change: M1K

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 null
Transcript: ENSMUST00000093078
AA Change: M1K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090766
Gene: ENSMUSG00000025316
AA Change: M1K

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 null
Transcript: ENSMUST00000170857
AA Change: M1K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132095
Gene: ENSMUSG00000025316
AA Change: M1K

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 null
Transcript: ENSMUST00000172511
AA Change: M1K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133365
Gene: ENSMUSG00000025316
AA Change: M1K

DomainStartEndE-ValueType
coiled coil region 61 98 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172628
AA Change: M39K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133342
Gene: ENSMUSG00000025316
AA Change: M39K

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 null
Transcript: ENSMUST00000172681
AA Change: M1K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000173254
AA Change: M1K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133783
Gene: ENSMUSG00000025316
AA Change: M1K

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 null
Transcript: ENSMUST00000174445
AA Change: M1K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000174753
AA Change: M1K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134058
Gene: ENSMUSG00000025316
AA Change: M1K

DomainStartEndE-ValueType
coiled coil region 52 90 N/A INTRINSIC
Meta Mutation Damage Score 0.7757 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (60/61)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,241,118 (GRCm39) I994V probably benign Het
Acan T G 7: 78,738,055 (GRCm39) probably null Het
Adamts12 G A 15: 11,277,425 (GRCm39) V680I possibly damaging Het
Adgrg7 T C 16: 56,545,342 (GRCm39) I712V probably damaging Het
Adgrl3 A G 5: 81,942,597 (GRCm39) H1477R probably damaging Het
Adgrv1 T A 13: 81,666,245 (GRCm39) D1937V probably damaging Het
Alms1 T C 6: 85,599,088 (GRCm39) S1305P probably benign Het
Bbs10 A G 10: 111,135,111 (GRCm39) T75A probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
Bltp3b G A 10: 89,645,518 (GRCm39) G1197D probably damaging Het
Brinp2 C T 1: 158,078,938 (GRCm39) C295Y probably damaging Het
Card11 C T 5: 140,883,993 (GRCm39) V429I probably benign Het
Cdca3 G A 6: 124,809,538 (GRCm39) R184H probably benign Het
Cep104 A G 4: 154,067,509 (GRCm39) probably null Het
Clspn A G 4: 126,484,430 (GRCm39) K1196R possibly damaging Het
Cntnap5b A G 1: 99,894,994 (GRCm39) T89A possibly damaging Het
Cpne9 A T 6: 113,266,974 (GRCm39) I136L probably damaging Het
Crat T A 2: 30,296,477 (GRCm39) I330F probably damaging Het
Ctbp2 G T 7: 132,615,697 (GRCm39) Q413K possibly damaging Het
D630045J12Rik T C 6: 38,151,238 (GRCm39) E1220G probably damaging Het
Dap A G 15: 31,235,985 (GRCm39) D41G probably damaging Het
Dnah14 A G 1: 181,590,967 (GRCm39) I3287V probably benign Het
Dsp A G 13: 38,356,819 (GRCm39) H233R probably damaging Het
Dst T C 1: 34,231,770 (GRCm39) I3121T probably benign Het
Espnl T G 1: 91,250,036 (GRCm39) L61R probably damaging Het
Evc2 T C 5: 37,527,983 (GRCm39) S331P possibly damaging Het
Gars1 A G 6: 55,050,344 (GRCm39) E535G probably benign Het
Hfm1 A G 5: 107,043,084 (GRCm39) I650T possibly damaging Het
Iyd T A 10: 3,495,690 (GRCm39) I116N probably damaging Het
Kif16b A G 2: 142,553,792 (GRCm39) L1002S probably damaging Het
Kifbp C T 10: 62,394,843 (GRCm39) V600I possibly damaging Het
Lgi1 G A 19: 38,272,468 (GRCm39) G113D probably damaging Het
Lgi2 G A 5: 52,695,604 (GRCm39) R452C probably damaging Het
Man2b2 T G 5: 36,970,722 (GRCm39) N764T probably damaging Het
Mrps18b A G 17: 36,221,587 (GRCm39) I246T probably benign Het
Muc5b A G 7: 141,426,287 (GRCm39) T4795A possibly damaging Het
Mybl2 G A 2: 162,924,513 (GRCm39) G627D possibly damaging Het
Ndufb8 C T 19: 44,543,794 (GRCm39) R16K probably benign Het
Or5k17 A T 16: 58,746,121 (GRCm39) V271E possibly damaging Het
P4htm C T 9: 108,457,991 (GRCm39) V335M probably damaging Het
Pbx3 A G 2: 34,094,889 (GRCm39) I249T probably damaging Het
Plod3 G T 5: 137,019,335 (GRCm39) V360L probably benign Het
Podxl2 C T 6: 88,826,632 (GRCm39) D161N probably benign Het
Polr1b G T 2: 128,960,993 (GRCm39) V651L probably benign Het
Prr14 T C 7: 127,075,749 (GRCm39) S586P probably benign Het
Pum3 C T 19: 27,371,728 (GRCm39) G575D probably benign Het
Rnf157 C A 11: 116,251,192 (GRCm39) A111S probably benign Het
Robo3 A G 9: 37,344,212 (GRCm39) L29P probably damaging Het
Smarca5 T C 8: 81,452,680 (GRCm39) N342S probably damaging Het
Specc1 T A 11: 62,009,078 (GRCm39) I198K probably benign Het
Tmem177 A T 1: 119,837,744 (GRCm39) *312R probably null Het
Tom1l2 A T 11: 60,152,026 (GRCm39) M172K probably benign Het
Tsc22d4 T C 5: 137,756,414 (GRCm39) V3A unknown Het
Vmn1r128 G T 7: 21,083,668 (GRCm39) G124V probably damaging Het
Vmn1r15 T C 6: 57,235,342 (GRCm39) I70T probably benign Het
Vmn2r60 A G 7: 41,844,631 (GRCm39) T665A probably damaging Het
Vmn2r83 T C 10: 79,314,790 (GRCm39) F346S probably benign Het
Wdr7 T A 18: 63,910,691 (GRCm39) D694E probably 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
R1635:Banp UTSW 8 122,727,750 (GRCm39) missense probably damaging 1.00
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
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'- TATCTCTGAGTGTTCGAAAGCC -3'
(R):5'- TTTCACACAGGGCTGGCATC -3'

Sequencing Primer
(F):5'- GTGTTCGAAAGCCAAGTAAAGCCC -3'
(R):5'- ATCTCTGCTGTGTCTGCTTTACTGG -3'
Posted On 2019-09-13