Incidental Mutation 'IGL02016:Bean1'
ID 183725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bean1
Ensembl Gene ENSMUSG00000031872
Gene Name brain expressed, associated with Nedd4, 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02016
Quality Score
Status
Chromosome 8
Chromosomal Location 104897110-104945730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104937550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 43 (L43S)
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: L9S

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090931
Gene: ENSMUSG00000031872
AA Change: L9S

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: L9S

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131530
Gene: ENSMUSG00000031872
AA Change: L9S

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: L43S

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129403
Gene: ENSMUSG00000031872
AA Change: L43S

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: L43S

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000213077
Coding Region Coverage
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik C A 2: 127,028,875 (GRCm39) G108V probably damaging Het
A2ml1 T C 6: 128,535,298 (GRCm39) E804G probably damaging Het
Abcg4 G A 9: 44,198,647 (GRCm39) T35M probably damaging Het
Acad9 A T 3: 36,142,635 (GRCm39) probably null Het
Adgrv1 T C 13: 81,545,572 (GRCm39) D5571G probably damaging Het
App T A 16: 84,853,409 (GRCm39) D223V unknown Het
Arhgap30 A G 1: 171,235,315 (GRCm39) E563G probably damaging Het
Atp6v1e2 A T 17: 87,251,822 (GRCm39) V192D probably damaging Het
Atr G A 9: 95,809,228 (GRCm39) V1969I probably benign Het
Cand1 A G 10: 119,048,473 (GRCm39) V436A probably damaging Het
Card6 T C 15: 5,137,738 (GRCm39) I39V probably damaging Het
Ccdc73 A G 2: 104,805,961 (GRCm39) T300A probably benign Het
Ccdc88c T C 12: 100,907,466 (GRCm39) T962A possibly damaging Het
Chd6 G T 2: 160,825,598 (GRCm39) L1169I probably damaging Het
Chrna7 A T 7: 62,753,583 (GRCm39) V312E probably damaging Het
Dna2 A G 10: 62,796,191 (GRCm39) N540S probably benign Het
Elavl2 T C 4: 91,149,172 (GRCm39) E209G probably damaging Het
Elmo2 A G 2: 165,136,932 (GRCm39) probably null Het
Fto A T 8: 92,393,034 (GRCm39) R494* probably null Het
Garre1 A G 7: 33,938,526 (GRCm39) M791T possibly damaging Het
Gm9966 A T 7: 95,608,014 (GRCm39) T112S unknown Het
Gtf3c1 A C 7: 125,267,211 (GRCm39) I940S probably damaging Het
Hecw2 C A 1: 53,870,702 (GRCm39) Q1426H possibly damaging Het
Iars2 A C 1: 185,035,503 (GRCm39) L579R probably damaging Het
Ifih1 A C 2: 62,437,328 (GRCm39) M537R probably benign Het
Kcnmb4 A G 10: 116,282,367 (GRCm39) probably benign Het
Large2 A G 2: 92,199,888 (GRCm39) V175A possibly damaging Het
Mad2l1bp A G 17: 46,464,428 (GRCm39) probably benign Het
Muc20 A T 16: 32,617,722 (GRCm39) F14Y possibly damaging Het
Myom2 A G 8: 15,175,195 (GRCm39) E1258G probably benign Het
Or8k28 A T 2: 86,285,841 (GRCm39) M258K probably damaging Het
Parp1 A T 1: 180,426,516 (GRCm39) probably null Het
Pramel22 T A 4: 143,381,889 (GRCm39) E269V possibly damaging Het
Prkra A T 2: 76,473,653 (GRCm39) probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scd1 C T 19: 44,388,746 (GRCm39) G235S probably benign Het
Sdk1 A G 5: 142,020,184 (GRCm39) H654R possibly damaging Het
Sesn3 A G 9: 14,231,633 (GRCm39) Y188C probably damaging Het
Slc26a4 T C 12: 31,585,666 (GRCm39) M461V probably damaging Het
Slc28a2 A G 2: 122,285,822 (GRCm39) I439V probably benign Het
Smc5 T A 19: 23,251,076 (GRCm39) N36I probably benign Het
Smurf2 A G 11: 106,713,504 (GRCm39) F745S probably damaging Het
Spata22 A G 11: 73,226,857 (GRCm39) N65S possibly damaging Het
Tanc1 A G 2: 59,673,934 (GRCm39) T1680A probably benign Het
Tnxb G A 17: 34,891,249 (GRCm39) V531M probably damaging Het
Trpm3 T G 19: 22,879,433 (GRCm39) Y727* probably null Het
Tssk1 A T 16: 17,712,758 (GRCm39) Y181F probably damaging Het
Ucp3 T A 7: 100,129,766 (GRCm39) V136E probably damaging Het
Uqcrfs1 A C 13: 30,729,097 (GRCm39) V45G probably benign Het
Uvrag A G 7: 98,748,649 (GRCm39) I101T probably benign Het
Vmn1r206 A T 13: 22,804,334 (GRCm39) L291Q probably damaging Het
Wnk2 T A 13: 49,210,381 (GRCm39) I1813F probably damaging Het
Zbtb3 T A 19: 8,780,579 (GRCm39) V64E probably damaging Het
Zeb2 A G 2: 44,878,886 (GRCm39) I1115T possibly damaging Het
Zfp280b C T 10: 75,874,945 (GRCm39) L275F possibly damaging Het
Other mutations in Bean1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1920:Bean1 UTSW 8 104,937,742 (GRCm39) missense possibly damaging 0.92
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
Posted On 2014-05-07