Incidental Mutation 'IGL02805:Asb14'
ID 360386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb14
Ensembl Gene ENSMUSG00000021898
Gene Name ankyrin repeat and SOCS box-containing 14
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02805
Quality Score
Status
Chromosome 14
Chromosomal Location 26616514-26637215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26623144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 172 (N172S)
Ref Sequence ENSEMBL: ENSMUSP00000129753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090337] [ENSMUST00000165929] [ENSMUST00000167929]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000090337
AA Change: N172S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: N172S

DomainStartEndE-ValueType
ANK 109 138 9.62e2 SMART
ANK 144 173 2.34e-1 SMART
ANK 177 206 1.7e-3 SMART
ANK 210 239 1.7e-3 SMART
ANK 243 272 2.66e-5 SMART
ANK 276 305 4.75e-2 SMART
ANK 309 337 4.31e2 SMART
ANK 341 370 5.24e-4 SMART
ANK 383 412 3.6e-2 SMART
ANK 413 442 5.45e-2 SMART
ANK 450 477 1.9e3 SMART
SOCS_box 559 601 1.8e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165305
SMART Domains Protein: ENSMUSP00000131669
Gene: ENSMUSG00000021898

DomainStartEndE-ValueType
ANK 26 55 1.7e-3 SMART
ANK 59 88 7.71e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165929
AA Change: N172S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
AA Change: N172S

DomainStartEndE-ValueType
ANK 109 138 9.62e2 SMART
ANK 144 173 2.34e-1 SMART
ANK 177 206 1.7e-3 SMART
ANK 210 239 1.7e-3 SMART
ANK 243 272 2.66e-5 SMART
ANK 276 305 4.75e-2 SMART
ANK 309 337 4.31e2 SMART
ANK 341 370 5.24e-4 SMART
ANK 383 412 3.6e-2 SMART
ANK 413 442 5.45e-2 SMART
ANK 450 477 1.9e3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167365
Predicted Effect probably benign
Transcript: ENSMUST00000167929
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 a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) probably benign Het
Other mutations in Asb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Asb14 APN 14 26,633,998 (GRCm39) missense probably benign 0.01
IGL01412:Asb14 APN 14 26,637,022 (GRCm39) missense probably damaging 1.00
IGL03100:Asb14 APN 14 26,625,329 (GRCm39) missense probably benign 0.03
R1208:Asb14 UTSW 14 26,622,375 (GRCm39) splice site probably benign
R1707:Asb14 UTSW 14 26,623,079 (GRCm39) missense probably benign 0.14
R1828:Asb14 UTSW 14 26,633,797 (GRCm39) missense possibly damaging 0.67
R3056:Asb14 UTSW 14 26,636,146 (GRCm39) missense possibly damaging 0.62
R3926:Asb14 UTSW 14 26,619,695 (GRCm39) missense possibly damaging 0.92
R4991:Asb14 UTSW 14 26,637,015 (GRCm39) missense probably damaging 1.00
R4996:Asb14 UTSW 14 26,634,073 (GRCm39) missense possibly damaging 0.94
R5306:Asb14 UTSW 14 26,633,866 (GRCm39) missense probably damaging 1.00
R5524:Asb14 UTSW 14 26,622,408 (GRCm39) missense possibly damaging 0.94
R7032:Asb14 UTSW 14 26,625,412 (GRCm39) missense probably benign 0.06
R7202:Asb14 UTSW 14 26,622,394 (GRCm39) missense probably benign 0.13
R7259:Asb14 UTSW 14 26,625,412 (GRCm39) missense probably benign 0.06
R7468:Asb14 UTSW 14 26,622,805 (GRCm39) missense probably benign 0.10
R7733:Asb14 UTSW 14 26,634,309 (GRCm39) missense probably benign 0.00
R7765:Asb14 UTSW 14 26,619,718 (GRCm39) missense probably benign 0.03
R8162:Asb14 UTSW 14 26,633,945 (GRCm39) missense probably benign 0.01
R8305:Asb14 UTSW 14 26,634,054 (GRCm39) missense probably benign 0.01
R8408:Asb14 UTSW 14 26,637,067 (GRCm39) missense probably damaging 1.00
R8714:Asb14 UTSW 14 26,623,032 (GRCm39) missense possibly damaging 0.65
R9415:Asb14 UTSW 14 26,633,793 (GRCm39) missense probably damaging 1.00
R9559:Asb14 UTSW 14 26,637,052 (GRCm39) missense possibly damaging 0.65
R9608:Asb14 UTSW 14 26,634,148 (GRCm39) missense probably damaging 1.00
Z1088:Asb14 UTSW 14 26,625,305 (GRCm39) missense probably benign 0.02
Z1177:Asb14 UTSW 14 26,634,256 (GRCm39) missense probably benign
Posted On 2015-12-18