Incidental Mutation 'IGL02696:Asxl1'
ID 303948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asxl1
Ensembl Gene ENSMUSG00000042548
Gene Name ASXL transcriptional regulator 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02696
Quality Score
Status
Chromosome 2
Chromosomal Location 153187750-153245927 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 153242115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 888 (Y888*)
Ref Sequence ENSEMBL: ENSMUSP00000154224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109790] [ENSMUST00000227428]
AlphaFold P59598
Predicted Effect probably null
Transcript: ENSMUST00000109790
AA Change: Y889*
SMART Domains Protein: ENSMUSP00000105413
Gene: ENSMUSG00000042548
AA Change: Y889*

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 noncoding transcript
Transcript: ENSMUST00000138571
Predicted Effect probably null
Transcript: ENSMUST00000227428
AA Change: Y888*
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably damaging 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
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
R7176:Asxl1 UTSW 2 153,243,908 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16