Incidental Mutation 'R7176:Asxl1'
ID 558603
Institutional Source Beutler Lab
Gene Symbol Asxl1
Ensembl Gene ENSMUSG00000042548
Gene Name ASXL transcriptional regulator 1
Synonyms
MMRRC Submission 045267-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7176 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 153187750-153245927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153243908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1487 (I1487N)
Ref Sequence ENSEMBL: ENSMUSP00000105413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109790] [ENSMUST00000227428]
AlphaFold P59598
Predicted Effect probably damaging
Transcript: ENSMUST00000109790
AA Change: I1487N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105413
Gene: ENSMUSG00000042548
AA Change: I1487N

DomainStartEndE-ValueType
Pfam:HARE-HTH 11 83 1.6e-20 PFAM
low complexity region 199 209 N/A INTRINSIC
Pfam:ASXH 236 361 5.9e-40 PFAM
low complexity region 411 422 N/A INTRINSIC
low complexity region 639 667 N/A INTRINSIC
low complexity region 705 716 N/A INTRINSIC
low complexity region 848 860 N/A INTRINSIC
low complexity region 986 1000 N/A INTRINSIC
Pfam:PHD_3 1446 1512 6.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227428
AA Change: I1486N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Disruption of this gene causes alterations in lymphocyte development in adult mice. Mice homozygous for a different knock-out allele exhibit complete lethality. Mice heterozygous for this allele exhibit eye opacity and abnormal vertebrae morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G T 17: 46,635,203 (GRCm39) H267N probably benign Het
Abtb2 A G 2: 103,539,720 (GRCm39) D695G probably benign Het
Adam21 C T 12: 81,607,022 (GRCm39) D247N possibly damaging Het
Adnp T C 2: 168,024,578 (GRCm39) N906D probably benign Het
Ankrd17 A T 5: 90,416,594 (GRCm39) H1079Q probably damaging Het
Aqp3 T A 4: 41,095,202 (GRCm39) N60Y probably damaging Het
Art4 T G 6: 136,834,166 (GRCm39) T26P probably benign Het
Arvcf T C 16: 18,218,477 (GRCm39) L553P probably damaging Het
Capn3 A T 2: 120,334,973 (GRCm39) Y820F possibly damaging Het
Catip A G 1: 74,401,941 (GRCm39) T39A probably damaging Het
Ccdc168 A T 1: 44,099,506 (GRCm39) S531T probably benign Het
Ccdc18 T A 5: 108,315,972 (GRCm39) C481S probably benign Het
Ccnf A G 17: 24,468,376 (GRCm39) I7T possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdkl4 A T 17: 80,851,221 (GRCm39) Y160* probably null Het
Celsr3 C T 9: 108,722,961 (GRCm39) P2783S probably benign Het
Cisd3 A T 11: 97,576,959 (GRCm39) D11V probably benign Het
Daxx A T 17: 34,132,292 (GRCm39) H512L unknown Het
Dip2b A G 15: 100,067,199 (GRCm39) H567R probably damaging Het
Dnah7c C A 1: 46,469,969 (GRCm39) A18E probably benign Het
Eif3d A T 15: 77,847,434 (GRCm39) V268D probably damaging Het
Eif4g3 T A 4: 137,898,497 (GRCm39) H1089Q probably damaging Het
Fmnl2 A G 2: 53,004,162 (GRCm39) M625V unknown Het
Foxn1 T C 11: 78,251,693 (GRCm39) R513G possibly damaging Het
Gemin5 C T 11: 58,056,828 (GRCm39) V134I probably benign Het
Gtf2h3 A G 5: 124,728,433 (GRCm39) R161G probably damaging Het
Ice1 A G 13: 70,772,525 (GRCm39) probably null Het
Il1rl1 T C 1: 40,485,766 (GRCm39) Y306H probably damaging Het
Kbtbd7 A T 14: 79,665,194 (GRCm39) E342V possibly damaging Het
Kyat3 A T 3: 142,443,600 (GRCm39) K404N possibly damaging Het
Lins1 T C 7: 66,363,553 (GRCm39) W483R probably benign Het
Lipo2 A G 19: 33,723,207 (GRCm39) I194T possibly damaging Het
Mcm8 G T 2: 132,661,992 (GRCm39) A137S probably benign Het
Mdm1 C A 10: 117,978,770 (GRCm39) Q12K probably damaging Het
Mrgprb5 C A 7: 47,818,059 (GRCm39) L225F possibly damaging Het
Myh11 T A 16: 14,033,690 (GRCm39) H1068L Het
Ngef A T 1: 87,408,417 (GRCm39) V550E possibly damaging Het
Nrg1 G A 8: 32,458,064 (GRCm39) Q84* probably null Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Ocln C A 13: 100,651,590 (GRCm39) G327C probably damaging Het
Ocln A C 13: 100,651,591 (GRCm39) N326K probably benign Het
Or10ag55-ps1 C T 2: 87,115,378 (GRCm39) A248V probably damaging Het
Otogl T C 10: 107,614,772 (GRCm39) D1960G probably damaging Het
Pik3c2a T C 7: 115,987,331 (GRCm39) D530G possibly damaging Het
Plod1 A T 4: 147,997,744 (GRCm39) M655K probably benign Het
Ppp4r3b A G 11: 29,148,904 (GRCm39) N449D probably damaging Het
Ppp6r3 G T 19: 3,521,989 (GRCm39) T563K probably damaging Het
Prepl T A 17: 85,376,454 (GRCm39) L533F probably benign Het
Rbl1 G A 2: 157,030,245 (GRCm39) R421W probably damaging Het
Rrp15 G A 1: 186,453,730 (GRCm39) S239L probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 A G 5: 124,530,944 (GRCm39) S815P probably benign Het
Scn7a G A 2: 66,506,632 (GRCm39) T1419I probably damaging Het
Setdb1 A G 3: 95,244,458 (GRCm39) probably null Het
Shpk A G 11: 73,113,814 (GRCm39) H409R probably benign Het
Slamf6 A C 1: 171,761,858 (GRCm39) N93T probably benign Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc35g1 T A 19: 38,391,771 (GRCm39) V351E probably damaging Het
Smcr8 A T 11: 60,669,772 (GRCm39) I307F probably damaging Het
Spats2l T C 1: 57,977,077 (GRCm39) I305T possibly damaging Het
Speer4c1 T C 5: 15,916,536 (GRCm39) T144A probably benign Het
Tbl3 G A 17: 24,919,732 (GRCm39) T774I probably benign Het
Ush2a A G 1: 188,269,925 (GRCm39) H1724R probably benign Het
Vcan A G 13: 89,837,055 (GRCm39) S2830P probably benign Het
Vmn2r27 T A 6: 124,168,995 (GRCm39) I712F probably benign Het
Wdr59 T G 8: 112,219,388 (GRCm39) Q223P Het
Zfp28 T A 7: 6,386,456 (GRCm39) C22S possibly damaging Het
Zfp536 T G 7: 37,180,276 (GRCm39) probably null Het
Other mutations in Asxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Asxl1 APN 2 153,234,860 (GRCm39) splice site probably benign
IGL01432:Asxl1 APN 2 153,242,125 (GRCm39) missense probably benign 0.38
IGL01543:Asxl1 APN 2 153,243,404 (GRCm39) missense probably benign 0.11
IGL02355:Asxl1 APN 2 153,243,706 (GRCm39) missense probably benign 0.34
IGL02362:Asxl1 APN 2 153,243,706 (GRCm39) missense probably benign 0.34
IGL02645:Asxl1 APN 2 153,234,777 (GRCm39) missense possibly damaging 0.94
IGL02696:Asxl1 APN 2 153,242,115 (GRCm39) nonsense probably null
IGL03365:Asxl1 APN 2 153,243,674 (GRCm39) missense probably damaging 1.00
IGL03372:Asxl1 APN 2 153,242,333 (GRCm39) missense probably damaging 0.99
IGL03377:Asxl1 APN 2 153,238,700 (GRCm39) missense probably damaging 1.00
astrophel UTSW 2 153,242,026 (GRCm39) missense possibly damaging 0.75
hairbrush UTSW 2 153,242,644 (GRCm39) missense possibly damaging 0.55
R0044:Asxl1 UTSW 2 153,242,129 (GRCm39) missense probably benign 0.06
R0044:Asxl1 UTSW 2 153,242,129 (GRCm39) missense probably benign 0.06
R0600:Asxl1 UTSW 2 153,241,824 (GRCm39) missense probably benign 0.00
R0659:Asxl1 UTSW 2 153,242,644 (GRCm39) missense possibly damaging 0.55
R0661:Asxl1 UTSW 2 153,242,644 (GRCm39) missense possibly damaging 0.55
R0684:Asxl1 UTSW 2 153,239,442 (GRCm39) missense probably damaging 1.00
R1606:Asxl1 UTSW 2 153,242,375 (GRCm39) missense probably damaging 0.99
R1747:Asxl1 UTSW 2 153,235,374 (GRCm39) missense possibly damaging 0.86
R1796:Asxl1 UTSW 2 153,243,526 (GRCm39) missense probably benign 0.31
R1914:Asxl1 UTSW 2 153,243,826 (GRCm39) missense probably damaging 1.00
R2099:Asxl1 UTSW 2 153,194,187 (GRCm39) missense possibly damaging 0.95
R2373:Asxl1 UTSW 2 153,243,820 (GRCm39) missense probably benign 0.13
R2910:Asxl1 UTSW 2 153,242,959 (GRCm39) missense probably benign 0.00
R3620:Asxl1 UTSW 2 153,199,075 (GRCm39) missense probably damaging 1.00
R3701:Asxl1 UTSW 2 153,241,264 (GRCm39) missense probably benign 0.04
R4200:Asxl1 UTSW 2 153,242,026 (GRCm39) missense possibly damaging 0.75
R4773:Asxl1 UTSW 2 153,243,905 (GRCm39) missense probably damaging 1.00
R4902:Asxl1 UTSW 2 153,241,751 (GRCm39) missense probably benign 0.02
R5100:Asxl1 UTSW 2 153,239,851 (GRCm39) missense probably damaging 1.00
R5102:Asxl1 UTSW 2 153,242,875 (GRCm39) missense probably benign 0.00
R5166:Asxl1 UTSW 2 153,243,041 (GRCm39) missense probably damaging 1.00
R5421:Asxl1 UTSW 2 153,241,504 (GRCm39) missense probably benign 0.04
R5701:Asxl1 UTSW 2 153,241,409 (GRCm39) missense probably damaging 1.00
R5861:Asxl1 UTSW 2 153,241,310 (GRCm39) missense probably damaging 0.99
R5973:Asxl1 UTSW 2 153,243,931 (GRCm39) missense probably damaging 0.97
R6384:Asxl1 UTSW 2 153,233,744 (GRCm39) critical splice donor site probably null
R7023:Asxl1 UTSW 2 153,242,469 (GRCm39) missense probably benign 0.00
R7028:Asxl1 UTSW 2 153,242,027 (GRCm39) missense probably benign 0.00
R7297:Asxl1 UTSW 2 153,239,355 (GRCm39) missense probably benign 0.01
R7378:Asxl1 UTSW 2 153,243,913 (GRCm39) missense probably damaging 1.00
R7464:Asxl1 UTSW 2 153,239,705 (GRCm39) missense probably benign 0.01
R7678:Asxl1 UTSW 2 153,242,572 (GRCm39) missense probably damaging 1.00
R7686:Asxl1 UTSW 2 153,233,534 (GRCm39) missense probably damaging 1.00
R7789:Asxl1 UTSW 2 153,241,943 (GRCm39) missense probably benign 0.00
R7838:Asxl1 UTSW 2 153,238,733 (GRCm39) missense probably damaging 1.00
R7898:Asxl1 UTSW 2 153,241,854 (GRCm39) missense possibly damaging 0.65
R8281:Asxl1 UTSW 2 153,241,321 (GRCm39) missense probably damaging 1.00
R8354:Asxl1 UTSW 2 153,235,345 (GRCm39) missense probably benign 0.40
R8383:Asxl1 UTSW 2 153,235,639 (GRCm39) missense probably damaging 1.00
R8995:Asxl1 UTSW 2 153,235,886 (GRCm39) missense probably damaging 1.00
R9183:Asxl1 UTSW 2 153,239,840 (GRCm39) missense probably damaging 0.99
X0024:Asxl1 UTSW 2 153,243,905 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGGCCTTGTATGGGAAG -3'
(R):5'- TCATGGGGAGGCAAAATTTATCTTG -3'

Sequencing Primer
(F):5'- CCTTGTATGGGAAGTTGTCTAAAC -3'
(R):5'- GGGAGGCAAAATTTATCTTGTCTAG -3'
Posted On 2019-06-26