Incidental Mutation 'R1920:Bean1'
ID 212952
Institutional Source Beutler Lab
Gene Symbol Bean1
Ensembl Gene ENSMUSG00000031872
Gene Name brain expressed, associated with Nedd4, 1
Synonyms
MMRRC Submission 039938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1920 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 104897110-104945730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104937742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 107 (H107L)
Ref Sequence ENSEMBL: ENSMUSP00000148571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093245] [ENSMUST00000164076] [ENSMUST00000167633] [ENSMUST00000171018] [ENSMUST00000212979] [ENSMUST00000213077]
AlphaFold Q9EQG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000093245
AA Change: H73L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090931
Gene: ENSMUSG00000031872
AA Change: H73L

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 70 90 N/A INTRINSIC
low complexity region 217 232 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164076
SMART Domains Protein: ENSMUSP00000132056
Gene: ENSMUSG00000031872

DomainStartEndE-ValueType
low complexity region 156 171 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167633
AA Change: H73L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131530
Gene: ENSMUSG00000031872
AA Change: H73L

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 70 90 N/A INTRINSIC
low complexity region 217 232 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171018
AA Change: H107L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129403
Gene: ENSMUSG00000031872
AA Change: H107L

DomainStartEndE-ValueType
transmembrane domain 72 94 N/A INTRINSIC
low complexity region 104 124 N/A INTRINSIC
low complexity region 288 303 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000212979
AA Change: H107L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000213077
Meta Mutation Damage Score 0.1072 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
Validation Efficiency 98% (101/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null targeted allele are viable and fertile and exhibit no apparent abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,828 (GRCm39) V77A probably benign Het
Actl7a G A 4: 56,744,135 (GRCm39) V221M probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgef10 C T 8: 15,006,987 (GRCm39) probably benign Het
Asgr2 T C 11: 69,989,123 (GRCm39) L86P possibly damaging Het
Atp12a A G 14: 56,624,308 (GRCm39) R919G probably benign Het
Atrn A G 2: 130,836,971 (GRCm39) Y1145C probably damaging Het
B3gnt5 T G 16: 19,588,294 (GRCm39) L171R probably benign Het
Bbof1 T A 12: 84,457,859 (GRCm39) N41K possibly damaging Het
Bdp1 A T 13: 100,235,097 (GRCm39) W166R probably benign Het
Brd4 T C 17: 32,417,060 (GRCm39) probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cep78 G A 19: 15,951,715 (GRCm39) probably benign Het
Cfap70 C T 14: 20,445,020 (GRCm39) A1087T probably damaging Het
Cideb A G 14: 55,992,700 (GRCm39) V72A probably benign Het
Cpz T C 5: 35,675,012 (GRCm39) E79G probably damaging Het
Crybg1 A G 10: 43,873,544 (GRCm39) L1188P probably damaging Het
Cuzd1 G A 7: 130,911,425 (GRCm39) P518L probably benign Het
Cyp2j5 A T 4: 96,551,491 (GRCm39) N77K probably damaging Het
Cyp4f39 T G 17: 32,702,265 (GRCm39) F254C probably benign Het
Dkk1 C A 19: 30,524,731 (GRCm39) V225L probably damaging Het
Dlg5 T C 14: 24,226,639 (GRCm39) Y421C probably damaging Het
Dll3 T C 7: 27,998,348 (GRCm39) T206A probably benign Het
Dnhd1 T C 7: 105,362,614 (GRCm39) C3766R probably benign Het
Dock9 G T 14: 121,820,792 (GRCm39) S1534Y probably damaging Het
Dst T C 1: 34,200,110 (GRCm39) V96A probably damaging Het
F2r A G 13: 95,740,698 (GRCm39) F279S probably damaging Het
Farp1 C A 14: 121,492,908 (GRCm39) N503K probably benign Het
Fbxw2 G A 2: 34,712,776 (GRCm39) T95I probably damaging Het
Fis1 A G 5: 136,994,461 (GRCm39) T50A probably benign Het
Frzb T G 2: 80,276,772 (GRCm39) E138A probably damaging Het
Fsip2 A T 2: 82,817,164 (GRCm39) D4299V probably benign Het
Fyco1 C T 9: 123,659,478 (GRCm39) D233N probably damaging Het
Gmpr A G 13: 45,667,997 (GRCm39) probably benign Het
Hc C T 2: 34,919,407 (GRCm39) probably benign Het
Hnrnpa1 T C 15: 103,150,699 (GRCm39) M186T possibly damaging Het
Kl A G 5: 150,906,132 (GRCm39) K501E probably benign Het
Klhl42 A G 6: 147,009,427 (GRCm39) N422S probably damaging Het
Kmt2d C G 15: 98,753,471 (GRCm39) K127N probably damaging Het
Kmt2d T A 15: 98,753,472 (GRCm39) K127M probably damaging Het
Krt39 T A 11: 99,405,461 (GRCm39) T480S probably benign Het
Lims2 T A 18: 32,088,395 (GRCm39) C198* probably null Het
Mctp1 A G 13: 76,532,729 (GRCm39) N26D possibly damaging Het
Mdm4 A G 1: 132,931,538 (GRCm39) S168P probably benign Het
Myo3a A G 2: 22,455,008 (GRCm39) Y71C probably benign Het
Nlrp9c T A 7: 26,084,319 (GRCm39) D420V probably damaging Het
Ntf3 A T 6: 126,079,485 (GRCm39) I7N possibly damaging Het
Or10ag52 G A 2: 87,043,721 (GRCm39) G162S probably benign Het
Or13c25 G T 4: 52,910,849 (GRCm39) T315K probably benign Het
Or4c119 A G 2: 88,986,925 (GRCm39) V198A probably benign Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Papln C A 12: 83,836,028 (GRCm39) Y1222* probably null Het
Pgm3 T G 9: 86,440,531 (GRCm39) I387L possibly damaging Het
Pira12 G C 7: 3,900,871 (GRCm39) P20R probably damaging Het
Pkd1 C A 17: 24,814,131 (GRCm39) P4167Q probably damaging Het
Plcb4 T A 2: 135,854,947 (GRCm39) V1174E probably damaging Het
Polr1b A G 2: 128,943,031 (GRCm39) N9D probably benign Het
Prkaa2 G A 4: 104,893,950 (GRCm39) Q456* probably null Het
Ptch2 G T 4: 116,965,858 (GRCm39) V425L probably benign Het
Ptprh A T 7: 4,552,394 (GRCm39) S957T probably benign Het
Riok1 A G 13: 38,241,177 (GRCm39) D444G probably benign Het
Rrbp1 A T 2: 143,830,211 (GRCm39) V652E probably benign Het
Rrp36 C T 17: 46,983,671 (GRCm39) R47Q possibly damaging Het
Sec24c T C 14: 20,736,955 (GRCm39) S304P probably damaging Het
Serpinb6b A T 13: 33,158,991 (GRCm39) D64V possibly damaging Het
Serpinb9b A T 13: 33,223,531 (GRCm39) probably null Het
Six6 T A 12: 72,988,538 (GRCm39) I237N probably damaging Het
Slc25a36 A T 9: 96,975,135 (GRCm39) M127K probably benign Het
Slc2a10 A G 2: 165,356,550 (GRCm39) D70G probably damaging Het
Slc2a3 T A 6: 122,713,700 (GRCm39) I171F probably damaging Het
Smc4 A G 3: 68,940,401 (GRCm39) T1087A probably damaging Het
Spg21 A G 9: 65,391,779 (GRCm39) Y242C probably damaging Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Stx2 G A 5: 129,065,903 (GRCm39) T251M probably damaging Het
Svs3b A T 2: 164,097,848 (GRCm39) S158T probably benign Het
Synpo C T 18: 60,736,661 (GRCm39) M428I probably benign Het
Tasor2 A T 13: 3,626,612 (GRCm39) Y1113N possibly damaging Het
Tbc1d31 G A 15: 57,775,760 (GRCm39) R17H probably damaging Het
Tbl3 G A 17: 24,923,477 (GRCm39) T284I probably benign Het
Tcof1 T C 18: 60,971,927 (GRCm39) T127A possibly damaging Het
Tgoln1 T C 6: 72,593,084 (GRCm39) E132G probably benign Het
Timeless T C 10: 128,077,583 (GRCm39) I221T probably damaging Het
Tmem176b C T 6: 48,815,138 (GRCm39) A52T possibly damaging Het
Tmem192 C T 8: 65,418,235 (GRCm39) L207F probably damaging Het
Trank1 T C 9: 111,176,996 (GRCm39) probably null Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Tubb5 T C 17: 36,146,190 (GRCm39) Y340C probably benign Het
Ubr1 G A 2: 120,761,449 (GRCm39) T576I probably benign Het
Vcan T C 13: 89,841,134 (GRCm39) E1470G probably damaging Het
Vmn1r200 T A 13: 22,579,663 (GRCm39) N146K probably damaging Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Vmn2r61 T C 7: 41,949,710 (GRCm39) I710T possibly damaging Het
Wipf1 T A 2: 73,270,499 (GRCm39) K61N probably benign Het
Zfp112 T C 7: 23,824,662 (GRCm39) V210A probably benign Het
Zfp612 G A 8: 110,815,095 (GRCm39) V101M probably benign Het
Zfp637 A G 6: 117,822,681 (GRCm39) R270G probably damaging Het
Zfp652 A G 11: 95,654,851 (GRCm39) E418G possibly damaging Het
Zfp97 A G 17: 17,365,265 (GRCm39) I255V probably benign Het
Other mutations in Bean1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02016:Bean1 APN 8 104,937,550 (GRCm39) missense possibly damaging 0.90
R0135:Bean1 UTSW 8 104,943,807 (GRCm39) missense probably damaging 1.00
R0490:Bean1 UTSW 8 104,941,660 (GRCm39) missense possibly damaging 0.76
R1319:Bean1 UTSW 8 104,943,856 (GRCm39) missense probably benign
R2513:Bean1 UTSW 8 104,908,643 (GRCm39) missense probably benign 0.04
R3980:Bean1 UTSW 8 104,937,730 (GRCm39) missense possibly damaging 0.92
R4209:Bean1 UTSW 8 104,940,566 (GRCm39) start codon destroyed probably null 0.04
R4369:Bean1 UTSW 8 104,943,742 (GRCm39) missense probably damaging 1.00
R4516:Bean1 UTSW 8 104,941,786 (GRCm39) missense probably damaging 1.00
R4542:Bean1 UTSW 8 104,937,591 (GRCm39) missense probably damaging 1.00
R4663:Bean1 UTSW 8 104,937,799 (GRCm39) missense probably damaging 1.00
R4962:Bean1 UTSW 8 104,943,606 (GRCm39) missense probably damaging 1.00
R5221:Bean1 UTSW 8 104,941,784 (GRCm39) missense probably damaging 1.00
R6288:Bean1 UTSW 8 104,937,622 (GRCm39) missense probably damaging 1.00
R6588:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R6615:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R6994:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R7359:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R7451:Bean1 UTSW 8 104,940,628 (GRCm39) missense probably benign 0.01
R7454:Bean1 UTSW 8 104,937,658 (GRCm39) missense probably damaging 1.00
R7473:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R7537:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R7826:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R8034:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R8418:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R8789:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R8885:Bean1 UTSW 8 104,908,752 (GRCm39) critical splice donor site probably null
R8888:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R8892:Bean1 UTSW 8 104,943,610 (GRCm39) missense probably damaging 1.00
R8896:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R8992:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9015:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9113:Bean1 UTSW 8 104,940,557 (GRCm39) missense probably benign 0.00
R9122:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9135:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9151:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9255:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9340:Bean1 UTSW 8 104,908,739 (GRCm39) missense probably damaging 0.99
R9363:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9417:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9537:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9566:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
R9731:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
RF054:Bean1 UTSW 8 104,908,664 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTGTCCACAGTAGCACGATAC -3'
(R):5'- TGTGGGACATGATAGTGGACAC -3'

Sequencing Primer
(F):5'- GATACAACCGTACCAGCTATTTC -3'
(R):5'- CATGATAGTGGACACCTGTGC -3'
Posted On 2014-07-14