Incidental Mutation 'R6265:Asb3'
ID 506963
Institutional Source Beutler Lab
Gene Symbol Asb3
Ensembl Gene ENSMUSG00000020305
Gene Name ankyrin repeat and SOCS box-containing 3
Synonyms 2400011J03Rik
MMRRC Submission 044438-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.428) question?
Stock # R6265 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 30904398-31052704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31035143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 462 (Q462K)
Ref Sequence ENSEMBL: ENSMUSP00000113072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020551] [ENSMUST00000117883] [ENSMUST00000137306] [ENSMUST00000203878]
AlphaFold Q9WV72
Predicted Effect probably benign
Transcript: ENSMUST00000020551
SMART Domains Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
ANK 9 38 5.29e0 SMART
ANK 42 71 1.23e0 SMART
ANK 78 107 7.3e-3 SMART
ANK 111 140 2.66e-5 SMART
ANK 145 174 2.73e-2 SMART
ANK 178 207 2.81e-4 SMART
ANK 211 240 1.88e-5 SMART
ANK 246 276 1.6e2 SMART
ANK 279 308 1.9e-1 SMART
ANK 315 346 1.17e2 SMART
SOCS_box 460 502 2.1e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117883
AA Change: Q462K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: Q462K

DomainStartEndE-ValueType
ANK 9 38 5.29e0 SMART
ANK 42 71 1.23e0 SMART
ANK 78 107 7.3e-3 SMART
ANK 111 140 2.66e-5 SMART
ANK 145 174 2.73e-2 SMART
ANK 178 207 2.81e-4 SMART
ANK 211 240 1.88e-5 SMART
ANK 246 276 1.6e2 SMART
ANK 279 308 1.9e-1 SMART
ANK 315 346 1.17e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137306
SMART Domains Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
ANK 9 38 5.29e0 SMART
ANK 42 71 4.3e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203878
SMART Domains Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
ANK 48 77 3.5e-2 SMART
ANK 81 110 8e-3 SMART
ANK 117 146 4.8e-5 SMART
ANK 150 179 1.7e-7 SMART
ANK 184 213 1.8e-4 SMART
ANK 217 246 1.8e-6 SMART
ANK 250 279 1.2e-7 SMART
ANK 285 315 1.1e0 SMART
ANK 318 347 1.2e-3 SMART
ANK 354 385 7.7e-1 SMART
SOCS 493 542 2.8e-4 SMART
SOCS_box 499 541 1.6e-17 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,181,986 (GRCm39) P47L probably damaging Het
Acot1 T C 12: 84,063,687 (GRCm39) I265T probably benign Het
Amotl1 T C 9: 14,482,951 (GRCm39) D587G possibly damaging Het
Anks1b T G 10: 90,777,362 (GRCm39) D1117E probably damaging Het
Art4 T G 6: 136,831,886 (GRCm39) N85T probably damaging Het
Atcay C T 10: 81,049,114 (GRCm39) E163K possibly damaging Het
Atp6v0e T C 17: 26,895,507 (GRCm39) V20A possibly damaging Het
Atp7b G A 8: 22,505,943 (GRCm39) Q520* probably null Het
Baat A T 4: 49,502,836 (GRCm39) D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Ccdc24 G A 4: 117,728,374 (GRCm39) Q47* probably null Het
Cep170b C A 12: 112,710,993 (GRCm39) Q1488K probably damaging Het
Cldn24 A C 8: 48,275,374 (GRCm39) D66A probably benign Het
Cln5 C A 14: 103,310,663 (GRCm39) T110K probably damaging Het
Clvs2 C A 10: 33,404,511 (GRCm39) S235I possibly damaging Het
Col5a3 C T 9: 20,705,060 (GRCm39) G730R unknown Het
Crim1 C T 17: 78,677,514 (GRCm39) P905L probably benign Het
Cxxc4 T C 3: 133,963,824 (GRCm39) V356A probably benign Het
Dctn6 G T 8: 34,562,057 (GRCm39) N93K probably damaging Het
Dnah9 G A 11: 66,058,920 (GRCm39) A125V probably benign Het
Dnhd1 T C 7: 105,342,577 (GRCm39) I1307T probably benign Het
Dpy19l1 T A 9: 24,343,667 (GRCm39) I493F possibly damaging Het
Ebf2 A G 14: 67,661,509 (GRCm39) I546V probably benign Het
Fbll1 T C 11: 35,688,636 (GRCm39) E209G probably damaging Het
Foxj2 G A 6: 122,805,133 (GRCm39) A2T probably damaging Het
Foxs1 A T 2: 152,774,098 (GRCm39) C318* probably null Het
Gorab T C 1: 163,214,199 (GRCm39) T244A possibly damaging Het
Gtsf1l C A 2: 162,929,583 (GRCm39) probably benign Het
Herc1 T C 9: 66,279,298 (GRCm39) S69P probably benign Het
Hpca C T 4: 129,012,445 (GRCm39) W30* probably null Het
Ing3 C A 6: 21,953,813 (GRCm39) Q85K probably damaging Het
Klhdc8b T C 9: 108,325,624 (GRCm39) E264G probably damaging Het
Lair1 T A 7: 4,058,826 (GRCm39) probably benign Het
Lama1 T C 17: 68,057,650 (GRCm39) Y575H probably damaging Het
Lamtor2 C A 3: 88,458,020 (GRCm39) G29* probably null Het
Loxhd1 A T 18: 77,449,426 (GRCm39) D341V probably damaging Het
Lrp2 T A 2: 69,296,684 (GRCm39) D3290V probably damaging Het
Matn2 A T 15: 34,399,301 (GRCm39) D396V probably damaging Het
Me3 T A 7: 89,498,951 (GRCm39) D510E probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mgat2 T C 12: 69,231,567 (GRCm39) V47A probably benign Het
Mindy4 T C 6: 55,278,049 (GRCm39) I631T probably damaging Het
Myo5b T A 18: 74,710,511 (GRCm39) probably null Het
Myo7b A T 18: 32,131,203 (GRCm39) D521E probably damaging Het
Nlrp9b T A 7: 19,796,608 (GRCm39) F986I probably benign Het
Or8k39 A G 2: 86,563,299 (GRCm39) L219P probably damaging Het
Patj A G 4: 98,357,804 (GRCm39) D690G probably benign Het
Pias2 T C 18: 77,184,954 (GRCm39) S5P probably damaging Het
Reep4 A T 14: 70,785,143 (GRCm39) S150C probably damaging Het
Slc25a21 T C 12: 57,243,685 (GRCm39) R14G probably benign Het
Slc6a6 G C 6: 91,731,896 (GRCm39) R575T probably damaging Het
Speg T A 1: 75,383,323 (GRCm39) Y886* probably null Het
Tas2r103 A C 6: 133,013,494 (GRCm39) F191V probably damaging Het
Tbc1d19 A G 5: 53,995,266 (GRCm39) D145G probably benign Het
Tex47 T A 5: 7,355,461 (GRCm39) I214N probably damaging Het
Tnnt3 A T 7: 142,055,382 (GRCm39) D3V probably damaging Het
Trdv2-1 T G 14: 54,183,842 (GRCm39) S24A probably benign Het
Ubr4 A G 4: 139,179,951 (GRCm39) D3377G possibly damaging Het
Ugt3a1 A T 15: 9,361,665 (GRCm39) D147V probably damaging Het
Usp9y A T Y: 1,446,843 (GRCm39) D103E probably benign Homo
Vmn1r168 A G 7: 23,240,961 (GRCm39) I273V probably benign Het
Vmn2r61 T C 7: 41,915,915 (GRCm39) I176T probably benign Het
Vmn2r8 T A 5: 108,956,463 (GRCm39) D53V probably benign Het
Zbtb8os A T 4: 129,229,775 (GRCm39) probably benign Het
Zfp551 C T 7: 12,149,339 (GRCm39) R690Q probably damaging Het
Other mutations in Asb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02879:Asb3 APN 11 31,051,067 (GRCm39) missense probably damaging 1.00
IGL02932:Asb3 APN 11 30,979,067 (GRCm39) critical splice donor site probably null
Kickbox UTSW 11 30,948,326 (GRCm39) missense probably damaging 1.00
low_blow UTSW 11 30,948,348 (GRCm39) nonsense probably null
Octagon UTSW 11 30,948,321 (GRCm39) missense probably benign 0.34
penalty UTSW 11 31,031,357 (GRCm39) splice site probably null
sixpack UTSW 11 31,035,143 (GRCm39) missense probably benign
R0573:Asb3 UTSW 11 31,011,406 (GRCm39) missense probably damaging 0.99
R1395:Asb3 UTSW 11 31,051,032 (GRCm39) splice site probably benign
R1545:Asb3 UTSW 11 31,006,217 (GRCm39) missense probably benign 0.00
R2108:Asb3 UTSW 11 31,031,355 (GRCm39) splice site probably null
R2364:Asb3 UTSW 11 31,051,192 (GRCm39) missense probably benign 0.01
R4527:Asb3 UTSW 11 31,008,933 (GRCm39) missense probably benign 0.30
R5019:Asb3 UTSW 11 31,031,415 (GRCm39) missense possibly damaging 0.95
R5176:Asb3 UTSW 11 31,031,357 (GRCm39) splice site probably null
R5344:Asb3 UTSW 11 31,051,114 (GRCm39) missense probably benign 0.01
R5734:Asb3 UTSW 11 30,979,021 (GRCm39) missense probably damaging 1.00
R6251:Asb3 UTSW 11 31,005,559 (GRCm39) missense probably damaging 1.00
R6747:Asb3 UTSW 11 31,031,493 (GRCm39) missense probably benign 0.01
R6827:Asb3 UTSW 11 31,051,211 (GRCm39) missense probably benign 0.00
R6928:Asb3 UTSW 11 30,948,326 (GRCm39) missense probably damaging 1.00
R7048:Asb3 UTSW 11 31,051,121 (GRCm39) missense probably damaging 1.00
R7087:Asb3 UTSW 11 30,948,321 (GRCm39) missense probably benign 0.34
R7135:Asb3 UTSW 11 30,948,501 (GRCm39) nonsense probably null
R7165:Asb3 UTSW 11 30,979,029 (GRCm39) missense probably damaging 0.99
R7200:Asb3 UTSW 11 30,948,348 (GRCm39) nonsense probably null
R7265:Asb3 UTSW 11 30,948,495 (GRCm39) missense probably benign 0.02
R7509:Asb3 UTSW 11 30,948,507 (GRCm39) missense probably benign 0.12
R7674:Asb3 UTSW 11 31,031,435 (GRCm39) missense possibly damaging 0.92
R8029:Asb3 UTSW 11 31,051,180 (GRCm39) nonsense probably null
R8034:Asb3 UTSW 11 31,031,554 (GRCm39) nonsense probably null
R8061:Asb3 UTSW 11 30,948,447 (GRCm39) missense probably damaging 1.00
R8724:Asb3 UTSW 11 31,051,120 (GRCm39) missense probably damaging 1.00
R8952:Asb3 UTSW 11 31,008,959 (GRCm39) missense probably damaging 1.00
R9310:Asb3 UTSW 11 30,978,962 (GRCm39) missense probably benign 0.34
R9381:Asb3 UTSW 11 31,051,088 (GRCm39) missense probably damaging 1.00
R9708:Asb3 UTSW 11 31,051,075 (GRCm39) missense probably benign 0.03
R9711:Asb3 UTSW 11 31,031,400 (GRCm39) missense probably damaging 1.00
R9716:Asb3 UTSW 11 31,031,460 (GRCm39) missense probably benign 0.03
R9747:Asb3 UTSW 11 31,008,946 (GRCm39) missense possibly damaging 0.69
RF016:Asb3 UTSW 11 31,011,407 (GRCm39) missense possibly damaging 0.95
X0024:Asb3 UTSW 11 31,008,950 (GRCm39) missense probably damaging 0.97
Z1177:Asb3 UTSW 11 31,008,965 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CACACATTTGTTTTCTGATGGC -3'
(R):5'- CCCATGCTTTCCACATATGAAG -3'

Sequencing Primer
(F):5'- GCCTGTTAATATGTTGTTGATACAGG -3'
(R):5'- GTCTGCAGCTTCATGCAAGAC -3'
Posted On 2018-03-15