Incidental Mutation 'R5019:Asb3'
ID 389101
Institutional Source Beutler Lab
Gene Symbol Asb3
Ensembl Gene ENSMUSG00000020305
Gene Name ankyrin repeat and SOCS box-containing 3
Synonyms 2400011J03Rik
MMRRC Submission 042610-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.428) question?
Stock # R5019 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 30904398-31052704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31031415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 345 (N345I)
Ref Sequence ENSEMBL: ENSMUSP00000020551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020551] [ENSMUST00000117883] [ENSMUST00000137306] [ENSMUST00000203878]
AlphaFold Q9WV72
Predicted Effect possibly damaging
Transcript: ENSMUST00000020551
AA Change: N345I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: N345I

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 possibly damaging
Transcript: ENSMUST00000117883
AA Change: N345I

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: N345I

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 possibly damaging
Transcript: ENSMUST00000203878
AA Change: N384I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: N384I

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 0.3384 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 92% (35/38)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C A 11: 110,056,760 (GRCm39) W20L probably benign Het
Adamts17 T A 7: 66,711,818 (GRCm39) Y81* probably null Het
Add3 A G 19: 53,231,002 (GRCm39) E559G probably damaging Het
Ahcyl2 A T 6: 29,859,738 (GRCm39) K6M possibly damaging Het
Carm1 T C 9: 21,490,807 (GRCm39) probably null Het
Ip6k2 T A 9: 108,674,945 (GRCm39) probably benign Het
Kdm4c T C 4: 74,261,772 (GRCm39) L649P probably damaging Het
Klra5 T C 6: 129,876,352 (GRCm39) T152A probably benign Het
Mars2 T C 1: 55,276,468 (GRCm39) S24P possibly damaging Het
Mfap2 A T 4: 140,742,569 (GRCm39) T142S probably damaging Het
Miga1 A C 3: 152,028,098 (GRCm39) S144A possibly damaging Het
Nalf1 A G 8: 9,820,240 (GRCm39) V260A probably benign Het
Or2l5 A T 16: 19,334,285 (GRCm39) F34I probably damaging Het
Or4d2b A G 11: 87,779,801 (GRCm39) V307A probably benign Het
Pate12 C A 9: 36,343,198 (GRCm39) Q7K probably benign Het
Pcdhgb6 A G 18: 37,875,994 (GRCm39) D234G probably damaging Het
Pclo A G 5: 14,764,381 (GRCm39) N4285D unknown Het
Pex1 T C 5: 3,672,331 (GRCm39) S725P probably damaging Het
Pigg A G 5: 108,480,015 (GRCm39) Y430C probably damaging Het
Plcb2 A T 2: 118,542,617 (GRCm39) L818Q probably benign Het
Psmd5 A G 2: 34,755,965 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,845 (GRCm39) V97A probably damaging Het
Tfap2b T C 1: 19,296,666 (GRCm39) V185A probably benign Het
Trim27 T C 13: 21,374,134 (GRCm39) F294L probably damaging Het
Trp53bp1 A T 2: 121,100,800 (GRCm39) probably null Het
Ttc28 T A 5: 111,249,930 (GRCm39) H293Q possibly damaging Het
Xkr5 T C 8: 18,992,126 (GRCm39) T88A probably benign Het
Xkr6 T G 14: 64,056,515 (GRCm39) I142S unknown Het
Zfp618 T C 4: 63,021,789 (GRCm39) Y252H probably damaging Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp809 A G 9: 22,148,998 (GRCm39) D84G probably benign 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
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
R6265:Asb3 UTSW 11 31,035,143 (GRCm39) missense probably benign
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'- GCATGTAAAAGCCATTGGTTATACC -3'
(R):5'- TGGGTCAAATCCAGCAAGC -3'

Sequencing Primer
(F):5'- ACCAAGTGCTATTTTCATTTCCAG -3'
(R):5'- TCCAGCAAGCAGGAGATGTG -3'
Posted On 2016-06-06