Incidental Mutation 'IGL02016:Bean1'
ID183725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bean1
Ensembl Gene ENSMUSG00000031872
Gene Namebrain expressed, associated with Nedd4, 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02016
Quality Score
Status
Chromosome8
Chromosomal Location104170442-104219122 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104210918 bp
ZygosityHeterozygous
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]
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: 127,186,955 G108V probably damaging Het
4931406P16Rik A G 7: 34,239,101 M791T possibly damaging Het
A2ml1 T C 6: 128,558,335 E804G probably damaging Het
Abcg4 G A 9: 44,287,350 T35M probably damaging Het
Acad9 A T 3: 36,088,486 probably null Het
Adgrv1 T C 13: 81,397,453 D5571G probably damaging Het
App T A 16: 85,056,521 D223V unknown Het
Arhgap30 A G 1: 171,407,747 E563G probably damaging Het
Atp6v1e2 A T 17: 86,944,394 V192D probably damaging Het
Atr G A 9: 95,927,175 V1969I probably benign Het
Cand1 A G 10: 119,212,568 V436A probably damaging Het
Card6 T C 15: 5,108,256 I39V probably damaging Het
Ccdc73 A G 2: 104,975,616 T300A probably benign Het
Ccdc88c T C 12: 100,941,207 T962A possibly damaging Het
Chd6 G T 2: 160,983,678 L1169I probably damaging Het
Chrna7 A T 7: 63,103,835 V312E probably damaging Het
Dna2 A G 10: 62,960,412 N540S probably benign Het
Elavl2 T C 4: 91,260,935 E209G probably damaging Het
Elmo2 A G 2: 165,295,012 probably null Het
Fto A T 8: 91,666,406 R494* probably null Het
Gm13088 T A 4: 143,655,319 E269V possibly damaging Het
Gm9966 A T 7: 95,958,807 T112S unknown Het
Gtf3c1 A C 7: 125,668,039 I940S probably damaging Het
Hecw2 C A 1: 53,831,543 Q1426H possibly damaging Het
Iars2 A C 1: 185,303,306 L579R probably damaging Het
Ifih1 A C 2: 62,606,984 M537R probably benign Het
Kcnmb4 A G 10: 116,446,462 probably benign Het
Large2 A G 2: 92,369,543 V175A possibly damaging Het
Mad2l1bp A G 17: 46,153,502 probably benign Het
Muc20 A T 16: 32,797,352 F14Y possibly damaging Het
Myom2 A G 8: 15,125,195 E1258G probably benign Het
Olfr1066 A T 2: 86,455,497 M258K probably damaging Het
Parp1 A T 1: 180,598,951 probably null Het
Prkra A T 2: 76,643,309 probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scd1 C T 19: 44,400,307 G235S probably benign Het
Sdk1 A G 5: 142,034,429 H654R possibly damaging Het
Sesn3 A G 9: 14,320,337 Y188C probably damaging Het
Slc26a4 T C 12: 31,535,667 M461V probably damaging Het
Slc28a2 A G 2: 122,455,341 I439V probably benign Het
Smc5 T A 19: 23,273,712 N36I probably benign Het
Smurf2 A G 11: 106,822,678 F745S probably damaging Het
Spata22 A G 11: 73,336,031 N65S possibly damaging Het
Tanc1 A G 2: 59,843,590 T1680A probably benign Het
Tnxb G A 17: 34,672,275 V531M probably damaging Het
Trpm3 T G 19: 22,902,069 Y727* probably null Het
Tssk1 A T 16: 17,894,894 Y181F probably damaging Het
Ucp3 T A 7: 100,480,559 V136E probably damaging Het
Uqcrfs1 A C 13: 30,545,114 V45G probably benign Het
Uvrag A G 7: 99,099,442 I101T probably benign Het
Vmn1r206 A T 13: 22,620,164 L291Q probably damaging Het
Wnk2 T A 13: 49,056,905 I1813F probably damaging Het
Zbtb3 T A 19: 8,803,215 V64E probably damaging Het
Zeb2 A G 2: 44,988,874 I1115T possibly damaging Het
Zfp280b C T 10: 76,039,111 L275F possibly damaging Het
Other mutations in Bean1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0135:Bean1 UTSW 8 104217175 missense probably damaging 1.00
R0490:Bean1 UTSW 8 104215028 missense possibly damaging 0.76
R1319:Bean1 UTSW 8 104217224 missense probably benign
R1920:Bean1 UTSW 8 104211110 missense possibly damaging 0.92
R2513:Bean1 UTSW 8 104182011 missense probably benign 0.04
R3980:Bean1 UTSW 8 104211098 missense possibly damaging 0.92
R4209:Bean1 UTSW 8 104213934 start codon destroyed probably null 0.04
R4369:Bean1 UTSW 8 104217110 missense probably damaging 1.00
R4516:Bean1 UTSW 8 104215154 missense probably damaging 1.00
R4542:Bean1 UTSW 8 104210959 missense probably damaging 1.00
R4663:Bean1 UTSW 8 104211167 missense probably damaging 1.00
R4962:Bean1 UTSW 8 104216974 missense probably damaging 1.00
R5221:Bean1 UTSW 8 104215152 missense probably damaging 1.00
R6288:Bean1 UTSW 8 104210990 missense probably damaging 1.00
R6588:Bean1 UTSW 8 104182032 frame shift probably null
R6615:Bean1 UTSW 8 104182032 frame shift probably null
R6994:Bean1 UTSW 8 104182032 frame shift probably null
R7359:Bean1 UTSW 8 104182032 frame shift probably null
R7451:Bean1 UTSW 8 104213996 missense probably benign 0.01
R7454:Bean1 UTSW 8 104211026 missense probably damaging 1.00
R7473:Bean1 UTSW 8 104182032 frame shift probably null
R7537:Bean1 UTSW 8 104182032 frame shift probably null
R7826:Bean1 UTSW 8 104182032 frame shift probably null
R8034:Bean1 UTSW 8 104182032 frame shift probably null
RF054:Bean1 UTSW 8 104182032 frame shift probably null
Posted On2014-05-07