Incidental Mutation 'IGL02805:Asb14'
ID360386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb14
Ensembl Gene ENSMUSG00000021898
Gene Nameankyrin repeat and SOCS box-containing 14
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL02805
Quality Score
Status
Chromosome14
Chromosomal Location26894557-26915258 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26901187 bp
ZygosityHeterozygous
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]
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: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in Asb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Asb14 APN 14 26912041 missense probably benign 0.01
IGL01412:Asb14 APN 14 26915065 missense probably damaging 1.00
IGL03100:Asb14 APN 14 26903372 missense probably benign 0.03
R1208:Asb14 UTSW 14 26900418 splice site probably benign
R1707:Asb14 UTSW 14 26901122 missense probably benign 0.14
R1828:Asb14 UTSW 14 26911840 missense possibly damaging 0.67
R3056:Asb14 UTSW 14 26914189 missense possibly damaging 0.62
R3926:Asb14 UTSW 14 26897738 missense possibly damaging 0.92
R4991:Asb14 UTSW 14 26915058 missense probably damaging 1.00
R4996:Asb14 UTSW 14 26912116 missense possibly damaging 0.94
R5306:Asb14 UTSW 14 26911909 missense probably damaging 1.00
R5524:Asb14 UTSW 14 26900451 missense possibly damaging 0.94
R7032:Asb14 UTSW 14 26903455 missense probably benign 0.06
R7202:Asb14 UTSW 14 26900437 missense probably benign 0.13
R7259:Asb14 UTSW 14 26903455 missense probably benign 0.06
R7468:Asb14 UTSW 14 26900848 missense probably benign 0.10
R7733:Asb14 UTSW 14 26912352 missense probably benign 0.00
R7765:Asb14 UTSW 14 26897761 missense probably benign 0.03
R8162:Asb14 UTSW 14 26911988 missense probably benign 0.01
R8305:Asb14 UTSW 14 26912097 missense probably benign 0.01
Z1088:Asb14 UTSW 14 26903348 missense probably benign 0.02
Z1177:Asb14 UTSW 14 26912299 missense probably benign
Posted On2015-12-18