Incidental Mutation 'R7901:Asb8'
ID 610018
Institutional Source Beutler Lab
Gene Symbol Asb8
Ensembl Gene ENSMUSG00000048175
Gene Name ankyrin repeat and SOCS box-containing 8
Synonyms 4930539L19Rik, C430011H06Rik
MMRRC Submission 045953-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7901 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 98032518-98063476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98040614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 16 (Y16C)
Ref Sequence ENSEMBL: ENSMUSP00000057864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059112] [ENSMUST00000123626] [ENSMUST00000123922] [ENSMUST00000143400]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059112
AA Change: Y16C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
AA Change: Y16C

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123626
AA Change: Y16C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
AA Change: Y16C

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123922
AA Change: Y16C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
AA Change: Y16C

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143400
AA Change: Y16C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
AA Change: Y16C

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,119,434 (GRCm39) probably null Het
Adpgk T C 9: 59,222,300 (GRCm39) V409A probably benign Het
Agfg2 A T 5: 137,665,966 (GRCm39) F98I probably damaging Het
Arhgap17 A T 7: 122,885,791 (GRCm39) probably benign Het
Atp6v0a2 C T 5: 124,779,485 (GRCm39) T200I probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccnt1 A T 15: 98,441,797 (GRCm39) D490E probably benign Het
Cenpf G T 1: 189,389,445 (GRCm39) D1462E probably damaging Het
Clcn6 C T 4: 148,095,202 (GRCm39) R736H probably damaging Het
Col4a2 A T 8: 11,479,358 (GRCm39) D747V probably benign Het
Cplane1 A G 15: 8,299,190 (GRCm39) E3126G unknown Het
Crybg3 T C 16: 59,377,907 (GRCm39) T1116A probably damaging Het
Csf1r T A 18: 61,243,368 (GRCm39) L128Q probably damaging Het
Ddx17 A T 15: 79,422,789 (GRCm39) D316E probably damaging Het
Ect2l T A 10: 18,017,712 (GRCm39) D681V possibly damaging Het
Ell2 A T 13: 75,912,105 (GRCm39) K464* probably null Het
Eme1 G T 11: 94,541,645 (GRCm39) P59Q probably damaging Het
Etl4 T C 2: 20,294,821 (GRCm39) S2P possibly damaging Het
Fndc9 T C 11: 46,128,576 (GRCm39) Y32H probably damaging Het
Frem1 G T 4: 82,877,614 (GRCm39) T1321K probably benign Het
Gabrg2 A G 11: 41,867,418 (GRCm39) V67A probably benign Het
Gm4553 ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG 7: 141,718,602 (GRCm39) probably benign Het
Gm5145 A C 17: 20,790,900 (GRCm39) I93L possibly damaging Het
Gpld1 T A 13: 25,146,758 (GRCm39) V240E probably damaging Het
Gsc T A 12: 104,439,131 (GRCm39) S82C possibly damaging Het
H2-T10 C T 17: 36,431,143 (GRCm39) E173K probably benign Het
Ifi213 A T 1: 173,394,784 (GRCm39) S584T probably benign Het
Klk1b1 T C 7: 43,620,669 (GRCm39) I253T probably damaging Het
Klra4 A G 6: 130,040,113 (GRCm39) L53P probably damaging Het
Lct A G 1: 128,216,722 (GRCm39) Y1697H probably benign Het
Mrs2 T A 13: 25,202,549 (GRCm39) D64V possibly damaging Het
Muc13 A G 16: 33,636,211 (GRCm39) Q565R probably damaging Het
Nlrp6 T C 7: 140,507,353 (GRCm39) V873A possibly damaging Het
Nup155 C T 15: 8,145,926 (GRCm39) P159L possibly damaging Het
Or10v1 A T 19: 11,873,898 (GRCm39) H171L probably benign Het
Or4m1 A T 14: 50,557,573 (GRCm39) S240T probably damaging Het
Or51a6 T C 7: 102,604,887 (GRCm39) probably null Het
Phip T G 9: 82,772,203 (GRCm39) M1115L probably benign Het
Ppip5k1 T C 2: 121,142,390 (GRCm39) Q1353R probably damaging Het
Ptprb C G 10: 116,205,333 (GRCm39) P1896A probably benign Het
Rgl2 T C 17: 34,154,799 (GRCm39) L601P possibly damaging Het
Sash1 C T 10: 8,656,328 (GRCm39) W221* probably null Het
Skint1 A C 4: 111,876,399 (GRCm39) T107P probably damaging Het
Slc45a4 G A 15: 73,477,621 (GRCm39) probably benign Het
Snx13 T A 12: 35,150,624 (GRCm39) D309E probably benign Het
Spcs1 A G 14: 30,722,628 (GRCm39) Y64H probably benign Het
Tep1 A T 14: 51,064,308 (GRCm39) Y2434N possibly damaging Het
Tnpo3 T C 6: 29,568,990 (GRCm39) E454G possibly damaging Het
Tsg101 G T 7: 46,563,183 (GRCm39) Q24K probably benign Het
Ttc6 C T 12: 57,735,353 (GRCm39) R1132W probably damaging Het
Unkl T C 17: 25,437,627 (GRCm39) S200P probably damaging Het
Uts2r G A 11: 121,052,234 (GRCm39) S366N probably benign Het
Wbp4 A T 14: 79,709,845 (GRCm39) V130E probably damaging Het
Zfp592 T G 7: 80,674,469 (GRCm39) S478A probably benign Het
Zfp664 A T 5: 124,962,839 (GRCm39) K78* probably null Het
Zfp738 A T 13: 67,821,110 (GRCm39) L79* probably null Het
Zfyve28 C T 5: 34,382,326 (GRCm39) R258Q probably damaging Het
Other mutations in Asb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Asb8 APN 15 98,039,159 (GRCm39) splice site probably benign
IGL01367:Asb8 APN 15 98,034,054 (GRCm39) missense probably damaging 1.00
IGL01375:Asb8 APN 15 98,039,190 (GRCm39) missense probably damaging 0.98
IGL03007:Asb8 APN 15 98,040,615 (GRCm39) missense probably damaging 0.99
IGL03192:Asb8 APN 15 98,033,776 (GRCm39) missense possibly damaging 0.87
R0025:Asb8 UTSW 15 98,040,552 (GRCm39) missense possibly damaging 0.84
R1405:Asb8 UTSW 15 98,039,248 (GRCm39) missense possibly damaging 0.85
R1405:Asb8 UTSW 15 98,039,248 (GRCm39) missense possibly damaging 0.85
R1406:Asb8 UTSW 15 98,034,304 (GRCm39) missense probably damaging 1.00
R1406:Asb8 UTSW 15 98,034,304 (GRCm39) missense probably damaging 1.00
R1570:Asb8 UTSW 15 98,034,309 (GRCm39) missense probably damaging 0.99
R1958:Asb8 UTSW 15 98,034,097 (GRCm39) missense possibly damaging 0.88
R2049:Asb8 UTSW 15 98,033,950 (GRCm39) nonsense probably null
R2060:Asb8 UTSW 15 98,039,254 (GRCm39) missense possibly damaging 0.93
R4448:Asb8 UTSW 15 98,039,211 (GRCm39) missense possibly damaging 0.92
R5835:Asb8 UTSW 15 98,034,263 (GRCm39) missense probably damaging 0.98
R6092:Asb8 UTSW 15 98,034,123 (GRCm39) missense possibly damaging 0.94
R6718:Asb8 UTSW 15 98,034,015 (GRCm39) missense probably benign 0.03
R7052:Asb8 UTSW 15 98,034,282 (GRCm39) missense probably damaging 0.98
R8690:Asb8 UTSW 15 98,034,108 (GRCm39) missense probably damaging 1.00
R9189:Asb8 UTSW 15 98,040,635 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TGCTAAACCAAGGCAGGGTC -3'
(R):5'- AGAGGTGACACCGAATAATCAC -3'

Sequencing Primer
(F):5'- CAAGGCAGGGTCCCACC -3'
(R):5'- ACTCTGAGCCTTGATGAG -3'
Posted On 2019-12-20