Incidental Mutation 'R8320:Asb10'
ID 641892
Institutional Source Beutler Lab
Gene Symbol Asb10
Ensembl Gene ENSMUSG00000038204
Gene Name ankyrin repeat and SOCS box-containing 10
Synonyms Asb-10
MMRRC Submission 067722-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 24737695-24745976 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 24742626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048302] [ENSMUST00000117900] [ENSMUST00000119657]
AlphaFold Q91ZT7
Predicted Effect probably null
Transcript: ENSMUST00000048302
SMART Domains Protein: ENSMUSP00000041539
Gene: ENSMUSG00000038204

DomainStartEndE-ValueType
ANK 115 144 2.62e-4 SMART
ANK 147 176 3.51e-5 SMART
ANK 180 209 7.99e2 SMART
ANK 214 243 1.44e-1 SMART
ANK 247 289 2.39e2 SMART
ANK 293 322 3.01e-4 SMART
ANK 326 362 1.46e2 SMART
SOCS_box 422 461 6.77e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117900
SMART Domains Protein: ENSMUSP00000112743
Gene: ENSMUSG00000038204

DomainStartEndE-ValueType
ANK 100 129 2.62e-4 SMART
ANK 132 161 3.51e-5 SMART
ANK 165 194 7.99e2 SMART
ANK 199 228 1.44e-1 SMART
ANK 232 274 2.39e2 SMART
ANK 278 307 3.01e-4 SMART
ANK 311 347 1.46e2 SMART
SOCS_box 407 446 6.77e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119657
SMART Domains Protein: ENSMUSP00000113328
Gene: ENSMUSG00000038204

DomainStartEndE-ValueType
ANK 115 144 2.62e-4 SMART
ANK 147 176 3.51e-5 SMART
ANK 180 209 7.99e2 SMART
ANK 214 243 1.44e-1 SMART
ANK 247 289 2.39e2 SMART
ANK 293 322 3.01e-4 SMART
ANK 326 362 1.46e2 SMART
SOCS_box 384 423 6.77e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Clec3a T C 8: 115,152,369 (GRCm39) V125A probably benign Het
Clspn A G 4: 126,457,743 (GRCm39) D258G possibly damaging Het
Cnn3 T G 3: 121,243,635 (GRCm39) L32R probably damaging Het
Cntnap5a T C 1: 116,374,466 (GRCm39) F993L possibly damaging Het
Cobl A G 11: 12,217,001 (GRCm39) S496P probably damaging Het
Dmxl2 A G 9: 54,291,043 (GRCm39) V2469A probably benign Het
Egfr T C 11: 16,841,251 (GRCm39) F714S probably damaging Het
Erap1 G C 13: 74,814,668 (GRCm39) E465Q probably benign Het
Ercc6 T C 14: 32,242,972 (GRCm39) V204A probably benign Het
Fbln2 C T 6: 91,234,749 (GRCm39) T689I possibly damaging Het
Fbxw13 G T 9: 109,012,134 (GRCm39) T311K probably benign Het
Foxj2 T A 6: 122,810,649 (GRCm39) S210T probably benign Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Grid2 T C 6: 63,233,917 (GRCm39) I26T probably benign Het
Gzmd A G 14: 56,367,190 (GRCm39) I234T probably benign Het
Igkv2-137 GA GAA 6: 67,533,154 (GRCm39) probably null Het
Kif26b T C 1: 178,711,641 (GRCm39) probably null Het
Klk1b1 C T 7: 43,619,767 (GRCm39) R109C possibly damaging Het
Klra10 A G 6: 130,246,211 (GRCm39) C255R probably damaging Het
Lgi4 T C 7: 30,768,366 (GRCm39) V455A probably benign Het
Mucl3 T C 17: 35,954,530 (GRCm39) T11A probably benign Het
Neb C A 2: 52,186,343 (GRCm39) V910L probably benign Het
Pigg G A 5: 108,495,717 (GRCm39) R918H probably benign Het
Poln A G 5: 34,307,171 (GRCm39) V10A possibly damaging Het
Polr1a T A 6: 71,918,368 (GRCm39) M642K probably damaging Het
Rasal1 C T 5: 120,804,420 (GRCm39) R431C probably benign Het
Rfc1 A T 5: 65,460,379 (GRCm39) Y167* probably null Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Sars2 C T 7: 28,446,293 (GRCm39) T174I probably damaging Het
Septin4 T C 11: 87,480,560 (GRCm39) V398A possibly damaging Het
Slc6a2 C T 8: 93,719,476 (GRCm39) T397I probably benign Het
Smarca4 G T 9: 21,588,798 (GRCm39) R1200L probably benign Het
Stx7 G T 10: 24,055,046 (GRCm39) A63S probably damaging Het
Sval3 G A 6: 41,949,458 (GRCm39) V99I probably benign Het
Syna A G 5: 134,588,574 (GRCm39) I125T possibly damaging Het
Syne2 T C 12: 76,150,604 (GRCm39) S1827P probably damaging Het
Taf4b T C 18: 14,916,749 (GRCm39) V33A possibly damaging Het
Tpcn2 C T 7: 144,820,359 (GRCm39) R373H possibly damaging Het
Trpm1 A G 7: 63,918,541 (GRCm39) D1511G possibly damaging Het
Ttc3 C A 16: 94,219,535 (GRCm39) R487S probably damaging Het
Tubb3 T C 8: 124,147,594 (GRCm39) S176P possibly damaging Het
Zfp189 C G 4: 49,530,180 (GRCm39) Q428E probably benign Het
Zscan4d C T 7: 10,799,942 (GRCm39) V316M probably benign Het
Other mutations in Asb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:Asb10 APN 5 24,744,601 (GRCm39) unclassified probably benign
R0194:Asb10 UTSW 5 24,742,930 (GRCm39) missense probably benign 0.15
R0789:Asb10 UTSW 5 24,744,862 (GRCm39) missense probably damaging 1.00
R1780:Asb10 UTSW 5 24,738,674 (GRCm39) missense possibly damaging 0.93
R4575:Asb10 UTSW 5 24,745,052 (GRCm39) missense probably damaging 1.00
R5114:Asb10 UTSW 5 24,745,740 (GRCm39) missense probably damaging 0.99
R5518:Asb10 UTSW 5 24,744,643 (GRCm39) missense probably damaging 1.00
R6916:Asb10 UTSW 5 24,742,854 (GRCm39) missense probably damaging 1.00
R7385:Asb10 UTSW 5 24,738,736 (GRCm39) nonsense probably null
R7634:Asb10 UTSW 5 24,745,875 (GRCm39) missense possibly damaging 0.81
R8060:Asb10 UTSW 5 24,738,833 (GRCm39) missense probably benign 0.31
R8368:Asb10 UTSW 5 24,744,615 (GRCm39) missense probably benign 0.00
R8768:Asb10 UTSW 5 24,738,690 (GRCm39) missense probably damaging 0.99
R8951:Asb10 UTSW 5 24,742,952 (GRCm39) missense probably damaging 1.00
R8974:Asb10 UTSW 5 24,745,209 (GRCm39) missense probably benign
R9316:Asb10 UTSW 5 24,745,045 (GRCm39) missense possibly damaging 0.68
R9380:Asb10 UTSW 5 24,739,103 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTGAGTTAGGGGTCCTAAACTTTC -3'
(R):5'- GTTGTACAGCTGCTCCTGTC -3'

Sequencing Primer
(F):5'- AAAACTAGGGTTGTGTTCCTTCACC -3'
(R):5'- CCTGTGGTGTCAACGCTAATGC -3'
Posted On 2020-07-28