Incidental Mutation 'IGL02480:Asb15'
ID 295178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb15
Ensembl Gene ENSMUSG00000029685
Gene Name ankyrin repeat and SOCS box-containing 15
Synonyms 4930400E23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02480
Quality Score
Status
Chromosome 6
Chromosomal Location 24528143-24573163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24570745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 574 (L574F)
Ref Sequence ENSEMBL: ENSMUSP00000112965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031696] [ENSMUST00000117688]
AlphaFold Q8VHS6
Predicted Effect probably damaging
Transcript: ENSMUST00000031696
AA Change: L574F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: L574F

DomainStartEndE-ValueType
ANK 110 139 1.59e-3 SMART
ANK 143 172 2.97e-3 SMART
ANK 176 205 1.93e-2 SMART
ANK 209 238 2.1e-3 SMART
ANK 242 273 5.01e-1 SMART
ANK 275 304 2.63e2 SMART
ANK 307 336 1.99e-4 SMART
ANK 349 378 5.24e-4 SMART
ANK 379 408 1.27e-2 SMART
ANK 417 444 2.35e3 SMART
SOCS_box 534 576 2.34e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117688
AA Change: L574F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: L574F

DomainStartEndE-ValueType
ANK 110 139 1.59e-3 SMART
ANK 143 172 2.97e-3 SMART
ANK 176 205 1.93e-2 SMART
ANK 209 238 2.1e-3 SMART
ANK 242 273 5.01e-1 SMART
ANK 275 304 2.63e2 SMART
ANK 307 336 1.99e-4 SMART
ANK 349 378 5.24e-4 SMART
ANK 379 408 1.27e-2 SMART
ANK 417 444 2.35e3 SMART
SOCS_box 534 576 2.34e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,908 (GRCm39) I202K probably benign Het
Abcc1 T A 16: 14,221,869 (GRCm39) S169T possibly damaging Het
Acsm1 A T 7: 119,255,265 (GRCm39) I389F possibly damaging Het
Actn2 T A 13: 12,291,364 (GRCm39) Q680L probably benign Het
Ankrd13d G A 19: 4,321,491 (GRCm39) P404S possibly damaging Het
Ankrd46 G T 15: 36,484,142 (GRCm39) probably benign Het
Arfip1 A G 3: 84,455,239 (GRCm39) probably null Het
Cym T C 3: 107,120,838 (GRCm39) I256V probably benign Het
Cyp3a44 C T 5: 145,731,715 (GRCm39) E144K possibly damaging Het
Efna1 T C 3: 89,179,902 (GRCm39) E109G probably benign Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
Eml1 C A 12: 108,487,955 (GRCm39) Q556K probably benign Het
Eml5 T G 12: 98,842,502 (GRCm39) T199P probably damaging Het
Entr1 T A 2: 26,275,132 (GRCm39) H342L probably damaging Het
Etl4 A C 2: 20,793,335 (GRCm39) M687L probably damaging Het
Fam199x C A X: 135,950,788 (GRCm39) T56K probably damaging Het
Fat4 A G 3: 39,064,579 (GRCm39) D4845G probably damaging Het
Gm4987 T A X: 45,544,973 (GRCm39) noncoding transcript Het
Gm5828 C A 1: 16,839,766 (GRCm39) noncoding transcript Het
Gm5930 T C 14: 44,575,087 (GRCm39) Y68C probably benign Het
Gucy1a1 C T 3: 82,005,040 (GRCm39) V582M probably damaging Het
Haghl G T 17: 26,002,033 (GRCm39) A220E probably damaging Het
Hsf5 G A 11: 87,522,483 (GRCm39) A359T possibly damaging Het
Igsf9 A T 1: 172,312,345 (GRCm39) probably benign Het
Igsf9 C A 1: 172,324,480 (GRCm39) D799E possibly damaging Het
Itga1 A T 13: 115,124,184 (GRCm39) F703I probably damaging Het
Kcna6 G A 6: 126,715,531 (GRCm39) P453S probably damaging Het
Lzic A T 4: 149,571,260 (GRCm39) N15I probably damaging Het
Or1j10 T G 2: 36,267,504 (GRCm39) C239G probably damaging Het
Or2n1d A G 17: 38,646,314 (GRCm39) R89G probably benign Het
Or4f54 A G 2: 111,122,858 (GRCm39) I82V possibly damaging Het
Or5p78 C T 7: 108,212,018 (GRCm39) T168I probably benign Het
P4ha1 T C 10: 59,179,574 (GRCm39) Y141H probably damaging Het
Paxx G A 2: 25,350,024 (GRCm39) P164S probably damaging Het
Pgd A G 4: 149,241,075 (GRCm39) V278A probably damaging Het
Pik3c2g A G 6: 139,798,526 (GRCm39) Y352C probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Poli T C 18: 70,658,477 (GRCm39) T86A probably benign Het
Psd2 G A 18: 36,139,136 (GRCm39) R528H probably damaging Het
Ptchd4 G T 17: 42,813,431 (GRCm39) C444F probably benign Het
Ptpra C A 2: 130,346,181 (GRCm39) T114K probably benign Het
Rho A G 6: 115,912,505 (GRCm39) N123S probably benign Het
Setd5 A G 6: 113,120,770 (GRCm39) D993G probably damaging Het
Slc1a2 T C 2: 102,566,411 (GRCm39) L38P probably damaging Het
Slc2a7 G A 4: 150,244,569 (GRCm39) V346M possibly damaging Het
Slc43a1 A G 2: 84,669,928 (GRCm39) I7V probably benign Het
Spag9 C T 11: 93,999,413 (GRCm39) Q691* probably null Het
Timmdc1 A T 16: 38,342,763 (GRCm39) V45D probably null Het
Tlr8 T A X: 166,027,179 (GRCm39) H557L probably damaging Het
Other mutations in Asb15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Asb15 APN 6 24,558,642 (GRCm39) splice site probably benign
IGL00557:Asb15 APN 6 24,558,649 (GRCm39) missense probably benign
IGL00694:Asb15 APN 6 24,570,663 (GRCm39) missense possibly damaging 0.79
IGL01137:Asb15 APN 6 24,556,521 (GRCm39) missense probably benign
IGL01681:Asb15 APN 6 24,567,137 (GRCm39) missense probably damaging 0.98
IGL01691:Asb15 APN 6 24,567,271 (GRCm39) missense probably benign 0.02
IGL01791:Asb15 APN 6 24,567,211 (GRCm39) missense probably damaging 1.00
IGL01989:Asb15 APN 6 24,565,943 (GRCm39) missense probably damaging 1.00
IGL02541:Asb15 APN 6 24,566,265 (GRCm39) missense probably damaging 1.00
IGL02707:Asb15 APN 6 24,558,787 (GRCm39) splice site probably benign
IGL03090:Asb15 APN 6 24,567,185 (GRCm39) missense possibly damaging 0.52
IGL03331:Asb15 APN 6 24,556,523 (GRCm39) missense possibly damaging 0.70
3-1:Asb15 UTSW 6 24,566,220 (GRCm39) missense probably benign 0.00
BB002:Asb15 UTSW 6 24,562,723 (GRCm39) missense probably benign 0.00
BB012:Asb15 UTSW 6 24,562,723 (GRCm39) missense probably benign 0.00
R0196:Asb15 UTSW 6 24,564,392 (GRCm39) missense probably damaging 0.99
R0603:Asb15 UTSW 6 24,556,556 (GRCm39) missense probably damaging 1.00
R0650:Asb15 UTSW 6 24,566,163 (GRCm39) missense probably damaging 1.00
R1114:Asb15 UTSW 6 24,567,176 (GRCm39) missense probably damaging 1.00
R1170:Asb15 UTSW 6 24,562,486 (GRCm39) splice site probably benign
R1365:Asb15 UTSW 6 24,567,269 (GRCm39) missense possibly damaging 0.95
R2323:Asb15 UTSW 6 24,556,600 (GRCm39) missense probably benign 0.01
R3147:Asb15 UTSW 6 24,566,258 (GRCm39) missense probably damaging 1.00
R3148:Asb15 UTSW 6 24,566,258 (GRCm39) missense probably damaging 1.00
R4762:Asb15 UTSW 6 24,567,236 (GRCm39) missense possibly damaging 0.81
R4771:Asb15 UTSW 6 24,570,621 (GRCm39) missense probably damaging 0.99
R4915:Asb15 UTSW 6 24,566,292 (GRCm39) missense probably damaging 0.96
R5369:Asb15 UTSW 6 24,562,563 (GRCm39) missense probably benign 0.00
R5415:Asb15 UTSW 6 24,570,690 (GRCm39) missense probably benign 0.05
R5781:Asb15 UTSW 6 24,564,377 (GRCm39) missense probably benign 0.11
R6649:Asb15 UTSW 6 24,562,632 (GRCm39) missense probably benign
R6653:Asb15 UTSW 6 24,562,632 (GRCm39) missense probably benign
R6781:Asb15 UTSW 6 24,558,674 (GRCm39) missense probably benign
R6984:Asb15 UTSW 6 24,566,336 (GRCm39) missense probably benign 0.17
R7297:Asb15 UTSW 6 24,566,462 (GRCm39) missense probably damaging 0.96
R7340:Asb15 UTSW 6 24,558,513 (GRCm39) missense probably benign 0.00
R7419:Asb15 UTSW 6 24,556,555 (GRCm39) missense probably benign 0.08
R7549:Asb15 UTSW 6 24,559,029 (GRCm39) splice site probably null
R7662:Asb15 UTSW 6 24,566,089 (GRCm39) missense probably benign 0.08
R7717:Asb15 UTSW 6 24,559,251 (GRCm39) missense probably benign
R7767:Asb15 UTSW 6 24,559,281 (GRCm39) missense probably benign
R7781:Asb15 UTSW 6 24,562,644 (GRCm39) missense probably benign 0.01
R7797:Asb15 UTSW 6 24,562,505 (GRCm39) missense probably damaging 0.98
R7847:Asb15 UTSW 6 24,564,266 (GRCm39) missense probably damaging 1.00
R7925:Asb15 UTSW 6 24,562,723 (GRCm39) missense probably benign 0.00
R8055:Asb15 UTSW 6 24,556,565 (GRCm39) missense probably benign 0.05
R8304:Asb15 UTSW 6 24,559,296 (GRCm39) missense possibly damaging 0.89
R8694:Asb15 UTSW 6 24,570,666 (GRCm39) missense probably benign 0.00
R9268:Asb15 UTSW 6 24,566,298 (GRCm39) missense probably benign
Z1176:Asb15 UTSW 6 24,566,330 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16