Incidental Mutation 'R1828:Asb14'
ID 207041
Institutional Source Beutler Lab
Gene Symbol Asb14
Ensembl Gene ENSMUSG00000021898
Gene Name ankyrin repeat and SOCS box-containing 14
Synonyms
MMRRC Submission 039855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1828 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 26616514-26637215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26633797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 334 (D334V)
Ref Sequence ENSEMBL: ENSMUSP00000087810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090337] [ENSMUST00000165929]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000090337
AA Change: D334V

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087810
Gene: ENSMUSG00000021898
AA Change: D334V

DomainStartEndE-ValueType
ANK 109 138 9.62e2 SMART
ANK 144 173 2.34e-1 SMART
ANK 177 206 1.7e-3 SMART
ANK 210 239 1.7e-3 SMART
ANK 243 272 2.66e-5 SMART
ANK 276 305 4.75e-2 SMART
ANK 309 337 4.31e2 SMART
ANK 341 370 5.24e-4 SMART
ANK 383 412 3.6e-2 SMART
ANK 413 442 5.45e-2 SMART
ANK 450 477 1.9e3 SMART
SOCS_box 559 601 1.8e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165305
SMART Domains Protein: ENSMUSP00000131669
Gene: ENSMUSG00000021898

DomainStartEndE-ValueType
ANK 26 55 1.7e-3 SMART
ANK 59 88 7.71e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165929
AA Change: D334V

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129753
Gene: ENSMUSG00000021898
AA Change: D334V

DomainStartEndE-ValueType
ANK 109 138 9.62e2 SMART
ANK 144 173 2.34e-1 SMART
ANK 177 206 1.7e-3 SMART
ANK 210 239 1.7e-3 SMART
ANK 243 272 2.66e-5 SMART
ANK 276 305 4.75e-2 SMART
ANK 309 337 4.31e2 SMART
ANK 341 370 5.24e-4 SMART
ANK 383 412 3.6e-2 SMART
ANK 413 442 5.45e-2 SMART
ANK 450 477 1.9e3 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,190,962 (GRCm39) T156A probably benign Het
9230106D20Rik A T 10: 19,536,065 (GRCm39) noncoding transcript Het
Abca3 A G 17: 24,585,171 (GRCm39) D144G probably benign Het
Anxa2 T A 9: 69,390,260 (GRCm39) L121Q probably damaging Het
Anxa7 A T 14: 20,512,732 (GRCm39) I267N probably damaging Het
Batf3 A G 1: 190,830,714 (GRCm39) N20S probably benign Het
Bub1b A G 2: 118,468,920 (GRCm39) H895R probably benign Het
C1qtnf12 G A 4: 156,050,160 (GRCm39) probably null Het
Cars1 T C 7: 143,130,385 (GRCm39) I294V probably damaging Het
Ccdc142 G A 6: 83,084,462 (GRCm39) A527T probably damaging Het
Ccdc168 A T 1: 44,096,234 (GRCm39) N1621K possibly damaging Het
Ccdc92 T C 5: 124,913,242 (GRCm39) N96D probably benign Het
Ceacam18 T A 7: 43,288,880 (GRCm39) D210E probably benign Het
Cenpe A G 3: 134,952,257 (GRCm39) T1373A probably damaging Het
Cfap161 T G 7: 83,440,932 (GRCm39) probably null Het
Cimip4 T C 15: 78,270,588 (GRCm39) Y60C possibly damaging Het
Cldn19 A G 4: 119,112,990 (GRCm39) D74G probably benign Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cox7a2l T A 17: 83,811,397 (GRCm39) Q78L probably benign Het
Crot T C 5: 9,019,080 (GRCm39) N491S probably benign Het
Cspg4b T A 13: 113,505,342 (GRCm39) L2157Q probably damaging Het
Ctr9 A G 7: 110,643,165 (GRCm39) probably null Het
Cyp4f14 T G 17: 33,130,209 (GRCm39) D190A probably damaging Het
D630039A03Rik C T 4: 57,910,240 (GRCm39) V191I probably benign Het
Dnah10 A T 5: 124,838,343 (GRCm39) N1124I probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Epdr1 G A 13: 19,778,773 (GRCm39) Q6* probably null Het
Erbin A G 13: 103,996,577 (GRCm39) probably null Het
Ero1a A T 14: 45,525,217 (GRCm39) I436K probably damaging Het
Exph5 A T 9: 53,287,941 (GRCm39) Q1674L possibly damaging Het
Fat4 A T 3: 39,037,607 (GRCm39) Y3753F probably damaging Het
Gaa T C 11: 119,174,098 (GRCm39) V763A probably damaging Het
Golim4 G A 3: 75,809,745 (GRCm39) T216I probably damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gtf2f2 A G 14: 76,245,143 (GRCm39) probably null Het
Gtf3c5 T C 2: 28,469,694 (GRCm39) Y70C probably damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hecw2 T C 1: 53,965,182 (GRCm39) D548G probably benign Het
Hr G A 14: 70,809,477 (GRCm39) probably null Het
Hrg A C 16: 22,774,853 (GRCm39) E161A probably damaging Het
Hydin A T 8: 111,237,526 (GRCm39) N1933I probably benign Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kif5c T C 2: 49,570,252 (GRCm39) probably null Het
Mgat5b C A 11: 116,868,614 (GRCm39) H512Q probably damaging Het
Mtmr4 T C 11: 87,502,943 (GRCm39) V999A probably benign Het
Mttp G T 3: 137,813,041 (GRCm39) Q545K probably damaging Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nexn A G 3: 151,948,405 (GRCm39) I386T probably damaging Het
Nrip3 A G 7: 109,365,763 (GRCm39) S85P probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Olr1 T C 6: 129,465,895 (GRCm39) N37S possibly damaging Het
Or14j5 C T 17: 38,161,966 (GRCm39) A161V probably benign Het
Or4b1d A G 2: 89,968,931 (GRCm39) L184S probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or5p80 G T 7: 108,229,855 (GRCm39) V219F possibly damaging Het
Pax4 T C 6: 28,443,446 (GRCm39) Y290C probably benign Het
Pcdhb2 T A 18: 37,429,038 (GRCm39) V337D probably damaging Het
Pglyrp4 T C 3: 90,640,310 (GRCm39) Y187H probably damaging Het
Pi4ka A G 16: 17,098,614 (GRCm39) M2017T probably benign Het
Pkdrej T C 15: 85,703,483 (GRCm39) T818A possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Pygm T C 19: 6,447,637 (GRCm39) I648T possibly damaging Het
Rab4a A T 8: 124,550,565 (GRCm39) K15I probably damaging Het
Rasa3 T C 8: 13,635,035 (GRCm39) E428G probably benign Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rpl3 C T 15: 79,964,591 (GRCm39) V222M possibly damaging Het
Rtl9 C T X: 141,886,011 (GRCm39) S1141F possibly damaging Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Sfswap C T 5: 129,590,148 (GRCm39) T215I probably damaging Het
Slit2 A G 5: 48,461,372 (GRCm39) D1456G probably damaging Het
Tex19.2 C T 11: 121,008,317 (GRCm39) V44I probably benign Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Tpd52 G T 3: 9,012,579 (GRCm39) N59K probably damaging Het
Trpc3 G A 3: 36,692,695 (GRCm39) P766S possibly damaging Het
Usp17la T A 7: 104,510,331 (GRCm39) V312D probably damaging Het
Xirp2 A G 2: 67,345,582 (GRCm39) N2608D possibly damaging Het
Zfp764l1 T A 7: 126,991,081 (GRCm39) H302L probably damaging Het
Zscan25 C A 5: 145,227,858 (GRCm39) H507Q possibly damaging Het
Other mutations in Asb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Asb14 APN 14 26,633,998 (GRCm39) missense probably benign 0.01
IGL01412:Asb14 APN 14 26,637,022 (GRCm39) missense probably damaging 1.00
IGL02805:Asb14 APN 14 26,623,144 (GRCm39) missense possibly damaging 0.89
IGL03100:Asb14 APN 14 26,625,329 (GRCm39) missense probably benign 0.03
R1208:Asb14 UTSW 14 26,622,375 (GRCm39) splice site probably benign
R1707:Asb14 UTSW 14 26,623,079 (GRCm39) missense probably benign 0.14
R3056:Asb14 UTSW 14 26,636,146 (GRCm39) missense possibly damaging 0.62
R3926:Asb14 UTSW 14 26,619,695 (GRCm39) missense possibly damaging 0.92
R4991:Asb14 UTSW 14 26,637,015 (GRCm39) missense probably damaging 1.00
R4996:Asb14 UTSW 14 26,634,073 (GRCm39) missense possibly damaging 0.94
R5306:Asb14 UTSW 14 26,633,866 (GRCm39) missense probably damaging 1.00
R5524:Asb14 UTSW 14 26,622,408 (GRCm39) missense possibly damaging 0.94
R7032:Asb14 UTSW 14 26,625,412 (GRCm39) missense probably benign 0.06
R7202:Asb14 UTSW 14 26,622,394 (GRCm39) missense probably benign 0.13
R7259:Asb14 UTSW 14 26,625,412 (GRCm39) missense probably benign 0.06
R7468:Asb14 UTSW 14 26,622,805 (GRCm39) missense probably benign 0.10
R7733:Asb14 UTSW 14 26,634,309 (GRCm39) missense probably benign 0.00
R7765:Asb14 UTSW 14 26,619,718 (GRCm39) missense probably benign 0.03
R8162:Asb14 UTSW 14 26,633,945 (GRCm39) missense probably benign 0.01
R8305:Asb14 UTSW 14 26,634,054 (GRCm39) missense probably benign 0.01
R8408:Asb14 UTSW 14 26,637,067 (GRCm39) missense probably damaging 1.00
R8714:Asb14 UTSW 14 26,623,032 (GRCm39) missense possibly damaging 0.65
R9415:Asb14 UTSW 14 26,633,793 (GRCm39) missense probably damaging 1.00
R9559:Asb14 UTSW 14 26,637,052 (GRCm39) missense possibly damaging 0.65
R9608:Asb14 UTSW 14 26,634,148 (GRCm39) missense probably damaging 1.00
Z1088:Asb14 UTSW 14 26,625,305 (GRCm39) missense probably benign 0.02
Z1177:Asb14 UTSW 14 26,634,256 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCTTAACGAAGGAACTCTCACTTC -3'
(R):5'- ATTGGGTAGAGCTCCAGCAC -3'

Sequencing Primer
(F):5'- GAAGGAACTCTCACTTCCGTTAGG -3'
(R):5'- GGTCACCGTTTGAAACAGC -3'
Posted On 2014-06-23