Incidental Mutation 'IGL03334:Asb6'
ID416972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb6
Ensembl Gene ENSMUSG00000039483
Gene Nameankyrin repeat and SOCS box-containing 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL03334
Quality Score
Status
Chromosome2
Chromosomal Location30823097-30830333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30824484 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 205 (T205A)
Ref Sequence ENSEMBL: ENSMUSP00000043462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041726] [ENSMUST00000041830] [ENSMUST00000127566] [ENSMUST00000128303] [ENSMUST00000129628] [ENSMUST00000129712] [ENSMUST00000138889] [ENSMUST00000152374]
Predicted Effect probably benign
Transcript: ENSMUST00000041726
AA Change: T205A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483
AA Change: T205A

DomainStartEndE-ValueType
Blast:ANK 31 63 3e-7 BLAST
ANK 66 95 1.96e3 SMART
ANK 100 129 1.91e-6 SMART
ANK 134 164 1e0 SMART
ANK 168 203 4.3e0 SMART
Blast:ANK 256 287 1e-11 BLAST
SOCS_box 370 410 1.72e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041830
SMART Domains Protein: ENSMUSP00000035303
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 223 2.3e-99 PFAM
Pfam:Ubie_methyltran 36 178 2.8e-7 PFAM
Pfam:Methyltransf_2 59 190 3.6e-8 PFAM
Pfam:Methyltransf_18 61 168 1.5e-9 PFAM
Pfam:Methyltransf_25 65 161 2.4e-8 PFAM
Pfam:Methyltransf_12 66 163 5.2e-11 PFAM
Pfam:Methyltransf_11 66 165 4.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127566
SMART Domains Protein: ENSMUSP00000142189
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 118 6.7e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128303
SMART Domains Protein: ENSMUSP00000123140
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 78 1.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129628
Predicted Effect probably benign
Transcript: ENSMUST00000129712
SMART Domains Protein: ENSMUSP00000141222
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 42 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138889
SMART Domains Protein: ENSMUSP00000141905
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 42 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148036
Predicted Effect probably benign
Transcript: ENSMUST00000152374
SMART Domains Protein: ENSMUSP00000116760
Gene: ENSMUSG00000026857

DomainStartEndE-ValueType
Pfam:Methyltransf_PK 8 146 8.7e-65 PFAM
Pfam:Methyltransf_11 66 146 4.7e-7 PFAM
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 belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 I286F probably benign Het
Angpt1 T A 15: 42,496,412 E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 S562P possibly damaging Het
B4galnt4 G A 7: 141,067,441 probably null Het
Clca4a A T 3: 144,953,866 M743K probably benign Het
Col14a1 T C 15: 55,448,821 probably benign Het
Col27a1 A T 4: 63,314,722 Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 probably null Het
Fnbp1l A G 3: 122,557,949 V315A probably benign Het
Gm17174 T A 14: 51,591,963 R48* probably null Het
Golga4 C T 9: 118,537,233 probably benign Het
Grin1 C T 2: 25,298,393 probably null Het
Ifi203 T A 1: 173,937,835 K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 S93P probably benign Het
Il27ra A G 8: 84,031,122 V594A probably benign Het
Krr1 T G 10: 111,980,054 S275R probably benign Het
Lars T C 18: 42,221,506 D792G probably benign Het
Myo1f G A 17: 33,598,194 R737H probably damaging Het
Nebl T A 2: 17,413,711 H292L probably damaging Het
Nell1 C A 7: 50,062,611 probably null Het
Nktr T C 9: 121,748,176 F412L probably benign Het
Nlrp3 T A 11: 59,549,016 I473N probably damaging Het
Olfr338 T C 2: 36,377,051 Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 V1383A probably damaging Het
Prss48 T C 3: 85,997,318 E191G probably damaging Het
Psg25 T A 7: 18,529,774 L41F probably benign Het
Sema3b A G 9: 107,604,077 L78P probably damaging Het
Spen G T 4: 141,469,969 N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 probably benign Het
Vmn1r218 T C 13: 23,136,618 L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 Y748F probably damaging Het
Vps18 C T 2: 119,297,482 R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 K224E probably damaging Het
Zbed5 T A 5: 129,902,355 F382I possibly damaging Het
Other mutations in Asb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03367:Asb6 APN 2 30824679 missense possibly damaging 0.57
R0853:Asb6 UTSW 2 30827030 missense possibly damaging 0.89
R1785:Asb6 UTSW 2 30827076 missense probably damaging 0.99
R1786:Asb6 UTSW 2 30827076 missense probably damaging 0.99
R2376:Asb6 UTSW 2 30824402 missense probably benign 0.08
R4133:Asb6 UTSW 2 30828235 utr 5 prime probably benign
R4600:Asb6 UTSW 2 30824471 missense probably damaging 1.00
R5945:Asb6 UTSW 2 30828203 utr 5 prime probably benign
R6031:Asb6 UTSW 2 30824195 missense probably benign 0.00
R6031:Asb6 UTSW 2 30824195 missense probably benign 0.00
R6370:Asb6 UTSW 2 30827012 missense probably damaging 1.00
R7499:Asb6 UTSW 2 30824460 missense possibly damaging 0.84
Posted On2016-08-02