Incidental Mutation 'R4448:Asb8'
ID328857
Institutional Source Beutler Lab
Gene Symbol Asb8
Ensembl Gene ENSMUSG00000048175
Gene Nameankyrin repeat and SOCS box-containing 8
Synonyms
MMRRC Submission 041709-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4448 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location98134637-98165625 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98141330 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 63 (V63A)
Ref Sequence ENSEMBL: ENSMUSP00000115813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059112] [ENSMUST00000123626] [ENSMUST00000123922] [ENSMUST00000143400]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059112
AA Change: V63A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
AA Change: V63A

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123626
AA Change: V63A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
AA Change: V63A

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123922
AA Change: V63A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
AA Change: V63A

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000143400
AA Change: V63A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
AA Change: V63A

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Meta Mutation Damage Score 0.0925 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 94% (49/52)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,926,129 noncoding transcript Het
A1cf A T 19: 31,945,862 T513S probably benign Het
Acaca A T 11: 84,262,492 I909F probably damaging Het
Adgb T C 10: 10,390,825 I980V probably benign Het
Akap13 T A 7: 75,742,760 F2450L probably damaging Het
Alg11 C A 8: 22,068,079 A469E probably benign Het
Atp6v1b2 T A 8: 69,102,022 D126E probably benign Het
BC048562 T A 9: 108,438,524 L43Q probably damaging Het
Ctcf A T 8: 105,680,293 probably benign Het
Efs A G 14: 54,920,192 S128P probably damaging Het
Epg5 T A 18: 77,962,461 M722K probably damaging Het
Ezr T C 17: 6,753,074 I203V probably benign Het
F5 A T 1: 164,198,899 N1680I possibly damaging Het
Fcna A G 2: 25,625,476 F194L probably damaging Het
Fut7 A G 2: 25,424,939 T70A probably benign Het
Galnt2 A G 8: 124,295,377 D14G probably benign Het
Gm13128 A C 4: 144,332,685 H322P probably damaging Het
Gpr4 G A 7: 19,223,001 A283T probably damaging Het
Herc2 T C 7: 56,227,892 L4569P probably damaging Het
Hhip C T 8: 80,043,945 probably null Het
Hoxc12 A G 15: 102,938,476 K268E probably damaging Het
Iqcm T C 8: 75,629,766 S176P probably damaging Het
Kansl1l A G 1: 66,738,159 S605P probably damaging Het
Kcnh4 A G 11: 100,755,907 F198L probably benign Het
Kmt2e T C 5: 23,464,790 F92L possibly damaging Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Mycbp2 T C 14: 103,188,502 I2396V possibly damaging Het
Nckap5 G A 1: 126,025,726 Q1030* probably null Het
Pag1 T C 3: 9,699,466 E209G probably benign Het
Pttg1 A T 11: 43,424,690 probably benign Het
Rab38 T G 7: 88,490,625 D167E probably benign Het
Rbm26 A T 14: 105,151,550 F302I probably damaging Het
Rpap2 G A 5: 107,601,795 V62I possibly damaging Het
Sec23b A G 2: 144,559,251 N11D probably benign Het
Sipa1l1 G A 12: 82,341,750 G250D probably benign Het
Sipa1l2 A T 8: 125,492,355 V81D probably damaging Het
Slc15a4 A G 5: 127,604,536 probably null Het
Sqstm1 A G 11: 50,203,039 probably benign Het
Taf4 A G 2: 179,935,971 L519P possibly damaging Het
Tdrd6 C T 17: 43,629,735 G141S probably benign Het
Urb1 C T 16: 90,769,394 V1502I possibly damaging Het
Vmn1r222 A C 13: 23,232,293 V250G probably benign Het
Vmn1r222 G A 13: 23,232,660 L128F probably damaging Het
Wwc2 A G 8: 47,868,667 Y471H unknown Het
Other mutations in Asb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Asb8 APN 15 98141278 splice site probably benign
IGL01367:Asb8 APN 15 98136173 missense probably damaging 1.00
IGL01375:Asb8 APN 15 98141309 missense probably damaging 0.98
IGL03007:Asb8 APN 15 98142734 missense probably damaging 0.99
IGL03192:Asb8 APN 15 98135895 missense possibly damaging 0.87
R0025:Asb8 UTSW 15 98142671 missense possibly damaging 0.84
R1405:Asb8 UTSW 15 98141367 missense possibly damaging 0.85
R1405:Asb8 UTSW 15 98141367 missense possibly damaging 0.85
R1406:Asb8 UTSW 15 98136423 missense probably damaging 1.00
R1406:Asb8 UTSW 15 98136423 missense probably damaging 1.00
R1570:Asb8 UTSW 15 98136428 missense probably damaging 0.99
R1958:Asb8 UTSW 15 98136216 missense possibly damaging 0.88
R2049:Asb8 UTSW 15 98136069 nonsense probably null
R2060:Asb8 UTSW 15 98141373 missense possibly damaging 0.93
R5835:Asb8 UTSW 15 98136382 missense probably damaging 0.98
R6092:Asb8 UTSW 15 98136242 missense possibly damaging 0.94
R6718:Asb8 UTSW 15 98136134 missense probably benign 0.03
R7052:Asb8 UTSW 15 98136401 missense probably damaging 0.98
R7901:Asb8 UTSW 15 98142733 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTTCATGGTTACACCTTGC -3'
(R):5'- GGGCCTCCTTACTAGAGTAATAGG -3'

Sequencing Primer
(F):5'- GGTTACACCTTGCTTTAGTAACG -3'
(R):5'- CATATCCCCCTGGTTTGAGTATTGG -3'
Posted On2015-07-21