Incidental Mutation 'R4992:Asb18'
ID 452811
Institutional Source Beutler Lab
Gene Symbol Asb18
Ensembl Gene ENSMUSG00000067081
Gene Name ankyrin repeat and SOCS box-containing 18
Synonyms
MMRRC Submission 042586-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4992 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 89880313-89942388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89880585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 143 (M143V)
Ref Sequence ENSEMBL: ENSMUSP00000095261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086882] [ENSMUST00000097656] [ENSMUST00000151330] [ENSMUST00000154228]
AlphaFold Q8VHA6
Predicted Effect probably benign
Transcript: ENSMUST00000086882
AA Change: M407V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: M407V

DomainStartEndE-ValueType
Blast:ANK 15 44 3e-8 BLAST
ANK 119 148 5.32e-5 SMART
ANK 151 180 1.99e-4 SMART
ANK 184 213 3.26e2 SMART
ANK 218 247 3.95e1 SMART
ANK 251 289 1.96e3 SMART
ANK 293 322 6.61e-1 SMART
Blast:ANK 329 365 1e-12 BLAST
SOCS_box 422 461 4.5e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097656
AA Change: M143V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000095261
Gene: ENSMUSG00000067081
AA Change: M143V

DomainStartEndE-ValueType
Blast:ANK 15 44 1e-8 BLAST
SOCS_box 158 197 4.5e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151330
SMART Domains Protein: ENSMUSP00000117836
Gene: ENSMUSG00000067081

DomainStartEndE-ValueType
Blast:ANK 15 44 1e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154228
SMART Domains Protein: ENSMUSP00000117767
Gene: ENSMUSG00000067081

DomainStartEndE-ValueType
Blast:ANK 15 44 9e-9 BLAST
ANK 78 107 5.32e-5 SMART
ANK 110 139 1.99e-4 SMART
Meta Mutation Damage Score 0.0663 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (84/86)
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, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G A 15: 81,948,203 (GRCm39) R700Q possibly damaging Het
4930444P10Rik T A 1: 16,151,101 (GRCm39) E27V probably damaging Het
Acsm4 T A 7: 119,310,640 (GRCm39) I509N probably benign Het
Birc6 A G 17: 74,996,251 (GRCm39) D4475G probably benign Het
Bsn A T 9: 107,992,747 (GRCm39) S1002T probably damaging Het
Bub3 T C 7: 131,162,535 (GRCm39) S33P probably damaging Het
Ccna1 T A 3: 54,957,311 (GRCm39) R35S probably damaging Het
Cdc23 T A 18: 34,779,972 (GRCm39) M119L probably benign Het
Ces1a A G 8: 93,771,650 (GRCm39) V49A probably benign Het
Chi3l1 A T 1: 134,116,364 (GRCm39) E282D probably benign Het
Crocc G A 4: 140,773,977 (GRCm39) A220V probably damaging Het
Cstf1 A G 2: 172,219,720 (GRCm39) Y277C probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dennd5a A G 7: 109,493,919 (GRCm39) S1262P probably damaging Het
Dnajb5 G A 4: 42,953,386 (GRCm39) probably null Het
E330034G19Rik A G 14: 24,357,064 (GRCm39) K200R unknown Het
Ect2l A G 10: 18,048,477 (GRCm39) F156S probably benign Het
Egf T C 3: 129,505,179 (GRCm39) probably null Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Elmo3 T A 8: 106,036,133 (GRCm39) Y607* probably null Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Ephb2 A G 4: 136,388,150 (GRCm39) V651A probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Gcn1 T C 5: 115,737,225 (GRCm39) V1321A probably benign Het
Gimd1 A T 3: 132,340,718 (GRCm39) Y78F probably benign Het
Glmn T G 5: 107,705,167 (GRCm39) D483A probably damaging Het
Gsr C T 8: 34,183,941 (GRCm39) T401I probably damaging Het
Htr3b G A 9: 48,870,518 (GRCm39) H62Y possibly damaging Het
Ifna6 T C 4: 88,745,777 (GRCm39) V42A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4b A T 8: 82,759,837 (GRCm39) R627S probably damaging Het
Kif13a C T 13: 46,930,639 (GRCm39) V142M probably damaging Het
Lims1 A C 10: 58,246,063 (GRCm39) probably benign Het
Ltn1 T C 16: 87,202,475 (GRCm39) T1059A possibly damaging Het
Lyst T C 13: 13,835,748 (GRCm39) L1810P probably damaging Het
Mboat1 T G 13: 30,386,343 (GRCm39) I119R possibly damaging Het
Mgat3 T A 15: 80,096,743 (GRCm39) D523E probably benign Het
Mphosph9 T C 5: 124,442,253 (GRCm39) E395G probably damaging Het
Mtcl1 G T 17: 66,649,834 (GRCm39) P1877Q probably damaging Het
Myo6 T C 9: 80,190,792 (GRCm39) V781A possibly damaging Het
Ncoa3 T A 2: 165,911,859 (GRCm39) M1395K probably benign Het
Nhlrc2 T A 19: 56,558,966 (GRCm39) D150E probably benign Het
Nlrp9a T C 7: 26,256,811 (GRCm39) V54A probably benign Het
Or1e32 G A 11: 73,705,146 (GRCm39) T254I probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Parp14 A T 16: 35,661,512 (GRCm39) C1479S probably benign Het
Pdcd1lg2 T C 19: 29,423,484 (GRCm39) V176A probably damaging Het
Pibf1 T A 14: 99,388,103 (GRCm39) N416K probably damaging Het
Pip4p1 A G 14: 51,166,690 (GRCm39) V179A probably damaging Het
Polb A T 8: 23,135,087 (GRCm39) V115E probably damaging Het
Polq T A 16: 36,881,524 (GRCm39) N1229K possibly damaging Het
Ppp1r21 A T 17: 88,876,508 (GRCm39) D440V probably benign Het
Ppp2ca T A 11: 52,004,033 (GRCm39) H63Q possibly damaging Het
Prl7a1 C T 13: 27,819,669 (GRCm39) probably null Het
Rgs1 C A 1: 144,122,060 (GRCm39) K77N probably damaging Het
Rnf112 T A 11: 61,343,537 (GRCm39) I100F possibly damaging Het
Rnf139 G T 15: 58,770,325 (GRCm39) E117* probably null Het
Robo1 G A 16: 72,776,756 (GRCm39) V743I probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Scarf1 T C 11: 75,413,056 (GRCm39) L434P probably damaging Het
Sgsm1 A T 5: 113,430,486 (GRCm39) S300T possibly damaging Het
Slc26a7 T G 4: 14,565,508 (GRCm39) T192P probably damaging Het
Smarcc2 A G 10: 128,310,579 (GRCm39) K403E probably damaging Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Sptlc3 G A 2: 139,437,923 (GRCm39) V406I probably benign Het
Tgds A C 14: 118,355,175 (GRCm39) Y197D probably damaging Het
Tll1 G T 8: 64,546,978 (GRCm39) R323S probably damaging Het
Trim14 A G 4: 46,507,110 (GRCm39) Y369H probably damaging Het
Ube2nl C T 7: 61,199,112 (GRCm39) noncoding transcript Het
Ube3a T A 7: 58,934,568 (GRCm39) D560E possibly damaging Het
Vmn2r10 A G 5: 109,145,592 (GRCm39) V505A possibly damaging Het
Vmn2r114 T G 17: 23,510,765 (GRCm39) I572L probably benign Het
Vmn2r26 A T 6: 124,003,070 (GRCm39) Q160L probably benign Het
Vmn2r75 A C 7: 85,815,375 (GRCm39) probably null Het
Vps8 A G 16: 21,280,158 (GRCm39) K336E possibly damaging Het
Zfp324 T C 7: 12,703,300 (GRCm39) S32P probably benign Het
Zfp366 T C 13: 99,366,003 (GRCm39) I388T possibly damaging Het
Zfp68 A T 5: 138,605,599 (GRCm39) N203K possibly damaging Het
Zhx2 A T 15: 57,686,983 (GRCm39) N784I probably damaging Het
Other mutations in Asb18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Asb18 APN 1 89,923,963 (GRCm39) missense probably benign 0.02
IGL01559:Asb18 APN 1 89,882,172 (GRCm39) missense probably damaging 1.00
IGL02188:Asb18 APN 1 89,924,021 (GRCm39) missense probably benign 0.08
IGL02378:Asb18 APN 1 89,920,710 (GRCm39) missense probably damaging 1.00
IGL02543:Asb18 APN 1 89,942,113 (GRCm39) missense probably damaging 0.99
IGL02828:Asb18 APN 1 89,923,932 (GRCm39) critical splice donor site probably null
IGL02877:Asb18 APN 1 89,880,533 (GRCm39) missense possibly damaging 0.65
IGL03290:Asb18 APN 1 89,942,296 (GRCm39) missense probably damaging 1.00
R0560:Asb18 UTSW 1 89,942,250 (GRCm39) missense probably damaging 1.00
R0671:Asb18 UTSW 1 89,920,893 (GRCm39) missense probably damaging 1.00
R1468:Asb18 UTSW 1 89,924,005 (GRCm39) missense probably damaging 1.00
R1468:Asb18 UTSW 1 89,924,005 (GRCm39) missense probably damaging 1.00
R1510:Asb18 UTSW 1 89,923,976 (GRCm39) missense possibly damaging 0.62
R1721:Asb18 UTSW 1 89,896,302 (GRCm39) missense probably benign 0.36
R1793:Asb18 UTSW 1 89,942,277 (GRCm39) missense probably damaging 1.00
R1863:Asb18 UTSW 1 89,942,104 (GRCm39) missense probably benign 0.10
R2171:Asb18 UTSW 1 89,896,419 (GRCm39) missense probably benign 0.01
R2348:Asb18 UTSW 1 89,942,256 (GRCm39) missense probably damaging 0.99
R3052:Asb18 UTSW 1 89,920,707 (GRCm39) missense probably damaging 1.00
R3053:Asb18 UTSW 1 89,920,707 (GRCm39) missense probably damaging 1.00
R3427:Asb18 UTSW 1 89,896,315 (GRCm39) missense probably damaging 0.99
R4094:Asb18 UTSW 1 89,942,147 (GRCm39) missense probably damaging 1.00
R4105:Asb18 UTSW 1 89,896,243 (GRCm39) missense possibly damaging 0.61
R4405:Asb18 UTSW 1 89,896,411 (GRCm39) missense probably benign 0.00
R4815:Asb18 UTSW 1 89,942,147 (GRCm39) missense probably damaging 1.00
R5287:Asb18 UTSW 1 89,942,110 (GRCm39) missense probably benign 0.01
R5403:Asb18 UTSW 1 89,942,110 (GRCm39) missense probably benign 0.01
R5494:Asb18 UTSW 1 89,882,121 (GRCm39) missense probably damaging 1.00
R5504:Asb18 UTSW 1 89,920,746 (GRCm39) missense probably damaging 1.00
R5617:Asb18 UTSW 1 89,882,184 (GRCm39) missense possibly damaging 0.90
R5826:Asb18 UTSW 1 89,942,260 (GRCm39) missense probably damaging 0.97
R6369:Asb18 UTSW 1 89,942,193 (GRCm39) missense probably damaging 0.99
R7474:Asb18 UTSW 1 89,920,755 (GRCm39) missense possibly damaging 0.91
R7751:Asb18 UTSW 1 89,896,206 (GRCm39) missense probably benign 0.09
R8707:Asb18 UTSW 1 89,920,857 (GRCm39) missense probably damaging 1.00
R9212:Asb18 UTSW 1 89,880,447 (GRCm39) missense probably benign 0.00
R9253:Asb18 UTSW 1 89,882,185 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CCCAAGGCTGTGGTTTCAAC -3'
(R):5'- CTCTGATCCAATGAGAGCTTTGC -3'

Sequencing Primer
(F):5'- GGCTGTGGTTTCAACACAAAAC -3'
(R):5'- CTTTGGAAAAGCATGTCACCC -3'
Posted On 2017-01-06