Incidental Mutation 'R8715:Atosb'
ID 669804
Institutional Source Beutler Lab
Gene Symbol Atosb
Ensembl Gene ENSMUSG00000036002
Gene Name atos homolog B
Synonyms B230312A22Rik, Fam214b
MMRRC Submission 068613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R8715 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 43032414-43046220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43033944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 444 (V444A)
Ref Sequence ENSEMBL: ENSMUSP00000038177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030169] [ENSMUST00000036462] [ENSMUST00000107956] [ENSMUST00000107957] [ENSMUST00000107958] [ENSMUST00000107959] [ENSMUST00000124155] [ENSMUST00000135067] [ENSMUST00000136326] [ENSMUST00000138030] [ENSMUST00000144999] [ENSMUST00000152846]
AlphaFold Q8BR27
Predicted Effect probably benign
Transcript: ENSMUST00000030169
SMART Domains Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PHB 36 194 1.47e-57 SMART
coiled coil region 231 252 N/A INTRINSIC
Pfam:Band_7_C 259 321 2.1e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000036462
AA Change: V444A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: V444A

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 479 537 8.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107956
AA Change: V444A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: V444A

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 479 537 8.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107957
AA Change: V444A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: V444A

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 479 537 8.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107958
AA Change: V444A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: V444A

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 479 537 8.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107959
AA Change: V444A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: V444A

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 480 537 8.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124155
Predicted Effect probably benign
Transcript: ENSMUST00000135067
SMART Domains Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135660
SMART Domains Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455

DomainStartEndE-ValueType
PHB 2 153 4.16e-39 SMART
coiled coil region 189 210 N/A INTRINSIC
Pfam:Band_7_C 218 280 3.6e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136326
SMART Domains Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455

DomainStartEndE-ValueType
PHB 1 148 1.33e-37 SMART
coiled coil region 185 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138030
SMART Domains Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PHB 42 200 1.47e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144999
Predicted Effect probably benign
Transcript: ENSMUST00000152846
SMART Domains Protein: ENSMUSP00000118228
Gene: ENSMUSG00000036002

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
Meta Mutation Damage Score 0.5013 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A T 5: 8,862,750 (GRCm39) H144L probably benign Het
Adam25 A G 8: 41,207,099 (GRCm39) N122D probably benign Het
Armc10 T C 5: 21,858,516 (GRCm39) F187S possibly damaging Het
Best3 T A 10: 116,828,971 (GRCm39) F84I probably damaging Het
Card11 A T 5: 140,871,315 (GRCm39) D729E probably benign Het
Ccdc60 A T 5: 116,328,153 (GRCm39) F104I probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cd209d CAT C 8: 3,923,772 (GRCm39) probably null Het
Cdhr4 G A 9: 107,874,596 (GRCm39) V9M Het
Cfap46 T C 7: 139,185,560 (GRCm39) T41A Het
Cyp2c66 A G 19: 39,159,388 (GRCm39) T280A probably benign Het
Dis3l C T 9: 64,214,342 (GRCm39) D1049N probably benign Het
Dlc1 T A 8: 37,405,795 (GRCm39) probably benign Het
Faap100 T C 11: 120,265,299 (GRCm39) T526A probably benign Het
Gimap6 A T 6: 48,679,552 (GRCm39) D161E probably damaging Het
Gmpr T C 13: 45,696,102 (GRCm39) V282A possibly damaging Het
Gsap A G 5: 21,431,245 (GRCm39) I190V possibly damaging Het
Gucy2d C T 7: 98,093,319 (GRCm39) T232I probably benign Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lrp1 C A 10: 127,396,490 (GRCm39) S2358I possibly damaging Het
Lrrc74a A G 12: 86,805,239 (GRCm39) N354D probably damaging Het
Mdga2 T C 12: 66,915,526 (GRCm39) E112G probably damaging Het
Msh6 C T 17: 88,293,195 (GRCm39) T650I probably benign Het
Mst1 T C 9: 107,959,242 (GRCm39) V203A possibly damaging Het
Muc1 G A 3: 89,138,821 (GRCm39) V477M possibly damaging Het
Naa11 A G 5: 97,540,066 (GRCm39) Y31H probably damaging Het
Nphp1 G T 2: 127,605,729 (GRCm39) H365Q possibly damaging Het
Or1p4-ps1 T A 11: 74,207,986 (GRCm39) I45N probably damaging Het
Or2y17 A T 11: 49,232,154 (GRCm39) Y265F probably damaging Het
Or5m13 G A 2: 85,748,273 (GRCm39) M1I probably null Het
Osbpl9 A G 4: 108,959,773 (GRCm39) F15S probably benign Het
Pcdha12 A C 18: 37,153,523 (GRCm39) N81H probably damaging Het
Pde4d A G 13: 110,071,876 (GRCm39) Q290R probably benign Het
Pla1a A T 16: 38,230,000 (GRCm39) N237K probably damaging Het
Podnl1 T C 8: 84,855,956 (GRCm39) Y239H Het
Pou4f3 G T 18: 42,528,593 (GRCm39) D179Y possibly damaging Het
Ptch2 T C 4: 116,968,719 (GRCm39) V995A probably damaging Het
Ptprt C T 2: 161,372,463 (GRCm39) C1403Y probably damaging Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rspry1 A G 8: 95,349,888 (GRCm39) E92G probably damaging Het
Sdccag8 T A 1: 176,773,803 (GRCm39) probably benign Het
Sdk2 G A 11: 113,671,728 (GRCm39) T2140M probably damaging Het
Serpina1e T C 12: 103,917,177 (GRCm39) N164S probably benign Het
Shisal1 A C 15: 84,301,346 (GRCm39) V99G probably damaging Het
Tdrkh T C 3: 94,331,968 (GRCm39) V131A probably damaging Het
Tm9sf3 T A 19: 41,244,724 (GRCm39) N51I probably damaging Het
Trav4-3 A G 14: 53,836,762 (GRCm39) N76D possibly damaging Het
Trhr2 T A 8: 123,085,619 (GRCm39) I122F probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r99 A T 17: 19,613,922 (GRCm39) probably benign Het
Zfp663 T C 2: 165,194,644 (GRCm39) E525G probably damaging Het
Zfp976 C T 7: 42,262,869 (GRCm39) E324K possibly damaging Het
Other mutations in Atosb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02268:Atosb APN 4 43,036,468 (GRCm39) nonsense probably null
IGL02810:Atosb APN 4 43,034,429 (GRCm39) missense probably damaging 1.00
BB010:Atosb UTSW 4 43,035,919 (GRCm39) missense probably benign
BB020:Atosb UTSW 4 43,035,919 (GRCm39) missense probably benign
PIT4431001:Atosb UTSW 4 43,036,024 (GRCm39) missense probably damaging 0.99
R0049:Atosb UTSW 4 43,036,441 (GRCm39) missense probably benign 0.30
R0049:Atosb UTSW 4 43,036,441 (GRCm39) missense probably benign 0.30
R0565:Atosb UTSW 4 43,034,647 (GRCm39) unclassified probably benign
R0627:Atosb UTSW 4 43,036,242 (GRCm39) missense probably damaging 1.00
R1121:Atosb UTSW 4 43,034,947 (GRCm39) missense probably damaging 1.00
R2395:Atosb UTSW 4 43,035,964 (GRCm39) nonsense probably null
R2853:Atosb UTSW 4 43,036,293 (GRCm39) missense probably benign
R3878:Atosb UTSW 4 43,035,867 (GRCm39) missense probably damaging 1.00
R4688:Atosb UTSW 4 43,034,663 (GRCm39) missense probably damaging 1.00
R6467:Atosb UTSW 4 43,033,687 (GRCm39) missense probably damaging 1.00
R6556:Atosb UTSW 4 43,033,896 (GRCm39) missense probably damaging 0.96
R7107:Atosb UTSW 4 43,036,434 (GRCm39) missense probably benign 0.10
R7608:Atosb UTSW 4 43,036,533 (GRCm39) missense probably damaging 0.99
R7933:Atosb UTSW 4 43,035,919 (GRCm39) missense probably benign
R7982:Atosb UTSW 4 43,034,483 (GRCm39) missense probably damaging 1.00
R8017:Atosb UTSW 4 43,034,413 (GRCm39) missense probably damaging 1.00
R8328:Atosb UTSW 4 43,034,751 (GRCm39) missense probably benign
R8792:Atosb UTSW 4 43,033,546 (GRCm39) missense probably damaging 0.99
R8837:Atosb UTSW 4 43,034,531 (GRCm39) missense probably damaging 1.00
R9530:Atosb UTSW 4 43,034,753 (GRCm39) missense probably damaging 0.99
R9717:Atosb UTSW 4 43,036,050 (GRCm39) missense probably damaging 0.99
R9726:Atosb UTSW 4 43,034,991 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATCTCCATGCAGGCTTAAGC -3'
(R):5'- TTACAGTGTGCCCAAGGTGG -3'

Sequencing Primer
(F):5'- TGTGAGCACGTCAGCATC -3'
(R):5'- GGCACCATCCAAGTGGTGAG -3'
Posted On 2021-04-30