Incidental Mutation 'R9696:Asb16'
ID 729309
Institutional Source Beutler Lab
Gene Symbol Asb16
Ensembl Gene ENSMUSG00000034768
Gene Name ankyrin repeat and SOCS box-containing 16
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R9696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 102159577-102170280 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102159766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 40 (R40W)
Ref Sequence ENSEMBL: ENSMUSP00000038450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036467] [ENSMUST00000100392] [ENSMUST00000133930]
AlphaFold Q8VHS5
Predicted Effect probably damaging
Transcript: ENSMUST00000036467
AA Change: R40W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038450
Gene: ENSMUSG00000034768
AA Change: R40W

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
Blast:ANK 56 85 3e-9 BLAST
ANK 110 139 5.29e0 SMART
ANK 142 171 2.1e-3 SMART
ANK 175 204 5.93e-3 SMART
ANK 209 238 1.4e1 SMART
ANK 242 279 9.21e0 SMART
ANK 283 312 2.18e-1 SMART
Blast:ANK 316 352 7e-17 BLAST
Blast:ANK 354 379 2e-8 BLAST
SOCS_box 408 447 1.26e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100392
SMART Domains Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 100 108 N/A INTRINSIC
low complexity region 302 317 N/A INTRINSIC
Pfam:DUF4539 458 541 4.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133930
SMART Domains Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 100 108 N/A INTRINSIC
low complexity region 302 317 N/A INTRINSIC
Pfam:DUF4539 457 542 3.2e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,691,256 (GRCm39) D105G possibly damaging Het
4930407I10Rik A G 15: 81,949,697 (GRCm39) N1198S probably benign Het
Abca14 A T 7: 119,888,734 (GRCm39) I1227F possibly damaging Het
Abhd10 T C 16: 45,552,042 (GRCm39) D277G probably damaging Het
Adam20 A G 8: 41,249,633 (GRCm39) N581S probably damaging Het
Apbb1ip A T 2: 22,725,989 (GRCm39) T254S probably benign Het
Arap3 T C 18: 38,112,905 (GRCm39) T1102A probably damaging Het
Birc6 T A 17: 74,947,292 (GRCm39) S3019T probably damaging Het
Btbd18 T A 2: 84,497,854 (GRCm39) C497* probably null Het
Cacna1h T C 17: 25,602,215 (GRCm39) M1542V possibly damaging Het
Ccdc8 T G 7: 16,730,087 (GRCm39) S525R unknown Het
Ch25h G A 19: 34,451,947 (GRCm39) R194W probably damaging Het
Ciapin1 C A 8: 95,555,065 (GRCm39) L130F probably damaging Het
Cnfn G T 7: 25,067,515 (GRCm39) T54N probably damaging Het
Cop1 A T 1: 159,076,783 (GRCm39) I195F probably damaging Het
Daam1 A G 12: 71,991,147 (GRCm39) R254G unknown Het
Dcaf13 T C 15: 39,001,496 (GRCm39) M268T possibly damaging Het
Disp3 C A 4: 148,345,611 (GRCm39) V410L probably damaging Het
Dus4l A T 12: 31,696,647 (GRCm39) I110K probably damaging Het
Endov C T 11: 119,398,048 (GRCm39) P271L probably damaging Het
Epha2 A G 4: 141,047,834 (GRCm39) I539V probably benign Het
Ercc4 A T 16: 12,950,810 (GRCm39) I635L probably damaging Het
Exosc10 A G 4: 148,649,704 (GRCm39) D378G probably damaging Het
Fmnl1 A G 11: 103,086,297 (GRCm39) D804G unknown Het
Gm11983 T A 11: 6,787,020 (GRCm39) I36F unknown Het
Gm11992 A T 11: 9,006,438 (GRCm39) I123L probably benign Het
Gm19965 T C 1: 116,730,838 (GRCm39) probably benign Het
Gm19965 A G 1: 116,749,210 (GRCm39) D297G Het
Gpr180 G A 14: 118,391,302 (GRCm39) G235R probably damaging Het
Gse1 T C 8: 120,956,280 (GRCm39) V257A unknown Het
Haus1 A T 18: 77,847,202 (GRCm39) S225T probably benign Het
Hgf A G 5: 16,777,534 (GRCm39) Y177C probably damaging Het
Insig1 T C 5: 28,279,546 (GRCm39) W184R probably damaging Het
Krt5 A T 15: 101,616,141 (GRCm39) S491R unknown Het
Lcn5 A G 2: 25,550,142 (GRCm39) I110V probably benign Het
Lin9 A T 1: 180,496,733 (GRCm39) S341C possibly damaging Het
Magi2 C T 5: 20,670,864 (GRCm39) H403Y probably benign Het
Mapk1ip1l C T 14: 47,548,340 (GRCm39) P163S probably damaging Het
Mbtd1 A G 11: 93,823,218 (GRCm39) D568G probably damaging Het
Mdp1 A G 14: 55,896,704 (GRCm39) V119A probably benign Het
Me1 A G 9: 86,469,047 (GRCm39) I506T probably damaging Het
Med1 A G 11: 98,061,772 (GRCm39) probably null Het
Med25 T A 7: 44,529,524 (GRCm39) Q656L probably benign Het
Memo1 A C 17: 74,524,041 (GRCm39) I213S probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mpi T C 9: 57,452,539 (GRCm39) D331G probably benign Het
Muc4 T C 16: 32,574,712 (GRCm39) I1054T probably benign Het
Nat10 T C 2: 103,556,040 (GRCm39) E927G possibly damaging Het
Nlrp9a T C 7: 26,275,033 (GRCm39) L930P unknown Het
Nt5c3b A T 11: 100,323,811 (GRCm39) I167N probably damaging Het
Ogdh T C 11: 6,289,209 (GRCm39) S308P probably damaging Het
Or2y1b A G 11: 49,208,390 (GRCm39) I6V probably benign Het
Or4c108 T G 2: 88,803,615 (GRCm39) I207L probably benign Het
Or52e5 T A 7: 104,719,283 (GRCm39) V203D probably damaging Het
Or8b9 G A 9: 37,766,671 (GRCm39) E186K probably benign Het
Parl A G 16: 20,105,690 (GRCm39) V244A probably benign Het
Parp14 G T 16: 35,661,252 (GRCm39) D1565E probably damaging Het
Parp14 T C 16: 35,661,251 (GRCm39) K1566E possibly damaging Het
Pcdhb18 T A 18: 37,623,606 (GRCm39) I312K possibly damaging Het
Pcnp A T 16: 55,844,867 (GRCm39) probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Rab10 T A 12: 3,306,947 (GRCm39) M83L probably benign Het
Rabep1 A G 11: 70,814,029 (GRCm39) S616G probably benign Het
Rnf213 G A 11: 119,359,806 (GRCm39) V4400M Het
Samd9l T A 6: 3,375,078 (GRCm39) I728F possibly damaging Het
Scaf4 T A 16: 90,044,122 (GRCm39) D620V unknown Het
Scnn1b A T 7: 121,498,462 (GRCm39) M1L probably damaging Het
Sec23b T A 2: 144,428,343 (GRCm39) M652K probably benign Het
Selenoi T C 5: 30,453,413 (GRCm39) F44L probably benign Het
Slc36a3 A T 11: 55,026,161 (GRCm39) V219E possibly damaging Het
Sncaip A T 18: 53,038,915 (GRCm39) Q543L probably damaging Het
Stmnd1 A G 13: 46,443,224 (GRCm39) I119V probably damaging Het
Strn3 T A 12: 51,676,286 (GRCm39) E414D probably damaging Het
Syne1 T A 10: 5,297,847 (GRCm39) H1150L probably benign Het
Tdrd7 A G 4: 46,016,888 (GRCm39) N676S possibly damaging Het
Tgs1 A T 4: 3,575,071 (GRCm39) I16F possibly damaging Het
Thnsl2 T G 6: 71,108,930 (GRCm39) T294P possibly damaging Het
Tmem156 A G 5: 65,231,147 (GRCm39) I241T possibly damaging Het
Unc13a A T 8: 72,082,197 (GRCm39) M1689K possibly damaging Het
Uri1 T C 7: 37,664,738 (GRCm39) D318G probably benign Het
Vmn2r86 T A 10: 130,285,702 (GRCm39) Q491L possibly damaging Het
Vps13b C A 15: 35,675,033 (GRCm39) Q1718K possibly damaging Het
Other mutations in Asb16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Asb16 APN 11 102,167,575 (GRCm39) missense probably damaging 1.00
R1540:Asb16 UTSW 11 102,163,402 (GRCm39) missense probably benign 0.37
R1589:Asb16 UTSW 11 102,159,821 (GRCm39) missense probably damaging 1.00
R1845:Asb16 UTSW 11 102,167,582 (GRCm39) missense possibly damaging 0.54
R2379:Asb16 UTSW 11 102,163,357 (GRCm39) missense probably benign 0.00
R3686:Asb16 UTSW 11 102,159,885 (GRCm39) missense probably benign 0.19
R4591:Asb16 UTSW 11 102,167,551 (GRCm39) missense probably damaging 0.97
R5205:Asb16 UTSW 11 102,159,820 (GRCm39) missense probably damaging 1.00
R6505:Asb16 UTSW 11 102,167,303 (GRCm39) missense probably damaging 0.99
R6649:Asb16 UTSW 11 102,159,863 (GRCm39) missense possibly damaging 0.56
R7275:Asb16 UTSW 11 102,159,935 (GRCm39) missense probably damaging 1.00
R7436:Asb16 UTSW 11 102,163,481 (GRCm39) missense possibly damaging 0.87
R7828:Asb16 UTSW 11 102,168,753 (GRCm39) missense probably benign 0.02
R7935:Asb16 UTSW 11 102,168,739 (GRCm39) missense probably benign
R8863:Asb16 UTSW 11 102,168,058 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAGGAACGATTCTCTGCC -3'
(R):5'- TTACGGAGAAGTGGCGTATG -3'

Sequencing Primer
(F):5'- AAGGAACGATTCTCTGCCTAGGTG -3'
(R):5'- AGGTGGTGTTCCCTACCCTG -3'
Posted On 2022-10-06