Incidental Mutation 'R8017:Atosb'
ID 656288
Institutional Source Beutler Lab
Gene Symbol Atosb
Ensembl Gene ENSMUSG00000036002
Gene Name atos homolog B
Synonyms B230312A22Rik, Fam214b
MMRRC Submission 067457-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R8017 (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 T at 43034413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 394 (F394Y)
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 probably damaging
Transcript: ENSMUST00000036462
AA Change: F394Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: F394Y

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 probably damaging
Transcript: ENSMUST00000107956
AA Change: F394Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: F394Y

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 probably damaging
Transcript: ENSMUST00000107957
AA Change: F394Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: F394Y

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 probably damaging
Transcript: ENSMUST00000107958
AA Change: F394Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: F394Y

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 probably damaging
Transcript: ENSMUST00000107959
AA Change: F394Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: F394Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 95% (36/38)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T G 2: 156,397,876 (GRCm39) I296S probably benign Het
Acsl5 A G 19: 55,257,228 (GRCm39) I42V probably benign Het
Adam25 T A 8: 41,207,124 (GRCm39) M130K possibly damaging Het
Bcl2l2 T A 14: 55,121,840 (GRCm39) M1K probably null Het
Cdh16 T C 8: 105,342,899 (GRCm39) N724S probably damaging Het
Cfi T C 3: 129,648,748 (GRCm39) S211P probably benign Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Crybg2 T A 4: 133,800,484 (GRCm39) V239E possibly damaging Het
Dcn G A 10: 97,319,397 (GRCm39) R58Q probably damaging Het
Dnah10 A G 5: 124,877,949 (GRCm39) N2678S probably benign Het
Dnai7 A G 6: 145,140,283 (GRCm39) S173P probably damaging Het
Fbxo24 C A 5: 137,611,073 (GRCm39) M572I probably benign Het
Hnrnpul1 T C 7: 25,447,889 (GRCm39) E145G probably benign Het
Ica1 A G 6: 8,658,286 (GRCm39) V277A probably benign Het
Idi1 G A 13: 8,937,974 (GRCm39) S140N probably benign Het
Kank1 TGCGA T 19: 25,388,568 (GRCm39) probably null Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kif20b T C 19: 34,917,279 (GRCm39) V603A probably damaging Het
Klc2 T C 19: 5,161,867 (GRCm39) K276R probably benign Het
Lmbrd2 T A 15: 9,172,317 (GRCm39) N370K probably benign Het
Map2k5 G T 9: 63,246,403 (GRCm39) A108D probably damaging Het
Obox2 T C 7: 15,130,974 (GRCm39) S69P possibly damaging Het
Or2w2 G A 13: 21,758,648 (GRCm39) probably benign Het
Or4b1d A C 2: 89,969,170 (GRCm39) F104L probably benign Het
Or4f57 G A 2: 111,790,918 (GRCm39) P167S probably damaging Het
Pcdhga8 A G 18: 37,860,783 (GRCm39) E613G probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Rab2a T C 4: 8,604,444 (GRCm39) probably null Het
Rsph4a A C 10: 33,785,455 (GRCm39) R455S probably damaging Het
Spata31f1a T C 4: 42,850,840 (GRCm39) T439A probably damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tmem151a T C 19: 5,132,588 (GRCm39) E206G probably damaging Het
Tmem156 C T 5: 65,231,204 (GRCm39) C222Y probably damaging Het
Tnfrsf11b C T 15: 54,117,598 (GRCm39) W219* probably null Het
Ttc36 T C 9: 44,710,898 (GRCm39) E144G probably damaging Het
Ttn C T 2: 76,597,801 (GRCm39) R19704H probably damaging Het
Wdr17 A C 8: 55,091,403 (GRCm39) I1137S possibly damaging Het
Xxylt1 A G 16: 30,826,637 (GRCm39) L226P probably damaging Het
Zbtb8b G A 4: 129,322,238 (GRCm39) R408W probably damaging Het
Zfp268 A G 4: 145,349,138 (GRCm39) T192A probably benign Het
Zfp873 T A 10: 81,896,193 (GRCm39) V308E probably benign 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
R8328:Atosb UTSW 4 43,034,751 (GRCm39) missense probably benign
R8715:Atosb UTSW 4 43,033,944 (GRCm39) missense possibly damaging 0.80
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'- TAAACCATTAGCCAGGGCAG -3'
(R):5'- GAAAGACTTGGCATCGTTCTC -3'

Sequencing Primer
(F):5'- GCTAGAAAAGTCAGTCATGAGCACC -3'
(R):5'- GAAAGACTTGGCATCGTTCTCAGATG -3'
Posted On 2020-10-20