Incidental Mutation 'R5369:Asb15'
ID 429538
Institutional Source Beutler Lab
Gene Symbol Asb15
Ensembl Gene ENSMUSG00000029685
Gene Name ankyrin repeat and SOCS box-containing 15
Synonyms 4930400E23Rik
MMRRC Submission 042946-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5369 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24528143-24573163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24562563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 175 (V175A)
Ref Sequence ENSEMBL: ENSMUSP00000112965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031696] [ENSMUST00000117688]
AlphaFold Q8VHS6
Predicted Effect probably benign
Transcript: ENSMUST00000031696
AA Change: V175A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: V175A

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 benign
Transcript: ENSMUST00000117688
AA Change: V175A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: V175A

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
Meta Mutation Damage Score 0.0632 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
B3galnt2 T C 13: 14,169,010 (GRCm39) probably null Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Colec12 A G 18: 9,866,750 (GRCm39) I654V unknown Het
Dip2a A G 10: 76,128,194 (GRCm39) I22T probably damaging Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
F12 T C 13: 55,566,304 (GRCm39) E496G probably benign Het
Fam227a A T 15: 79,499,637 (GRCm39) S573T probably benign Het
Fnip1 T C 11: 54,393,415 (GRCm39) V593A probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Ints6 T C 14: 62,981,384 (GRCm39) T135A probably damaging Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,882,654 (GRCm39) E466G probably damaging Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V 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
IGL02480:Asb15 APN 6 24,570,745 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ACGGGATGGCTTCTACCTAG -3'
(R):5'- CCCATGCAAAATGAAGAGAGTC -3'

Sequencing Primer
(F):5'- GGCCTCATGTTGATAAGG -3'
(R):5'- AGAGTAACTCACTTCACGTACCTTTG -3'
Posted On 2016-09-06