Incidental Mutation 'IGL02362:Asxl1'
ID 290533
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 # IGL02362
Quality Score
Status
Chromosome 2
Chromosomal Location 153187750-153245927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 153243706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 1419 (L1419F)
Ref Sequence ENSEMBL: ENSMUSP00000154224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109790] [ENSMUST00000227428]
AlphaFold P59598
Predicted Effect probably benign
Transcript: ENSMUST00000109790
AA Change: L1420F

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105413
Gene: ENSMUSG00000042548
AA Change: L1420F

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 benign
Transcript: ENSMUST00000227428
AA Change: L1419F

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 C A 8: 25,187,207 (GRCm39) C428F probably damaging Het
Alas1 T C 9: 106,113,838 (GRCm39) Y469C probably damaging Het
Bcan C T 3: 87,901,449 (GRCm39) D418N possibly damaging Het
Cdc42bpg A G 19: 6,360,839 (GRCm39) D199G possibly damaging Het
Chst15 T C 7: 131,868,401 (GRCm39) N340D probably benign Het
Col12a1 T G 9: 79,537,993 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,631,849 (GRCm39) H116L probably benign Het
Cyp2c67 G A 19: 39,605,826 (GRCm39) R357* probably null Het
Ears2 T C 7: 121,643,773 (GRCm39) D395G probably benign Het
Fam227a A T 15: 79,528,139 (GRCm39) probably benign Het
Fap A G 2: 62,403,842 (GRCm39) V11A probably benign Het
Ganc A G 2: 120,264,238 (GRCm39) D397G probably damaging Het
Gjb6 C A 14: 57,361,752 (GRCm39) G170C possibly damaging Het
Gria2 A T 3: 80,614,244 (GRCm39) W599R probably damaging Het
Gvin-ps5 T C 7: 105,929,480 (GRCm39) noncoding transcript Het
Ighv1-64 A G 12: 115,471,236 (GRCm39) S94P probably benign Het
Kifc3 C T 8: 95,836,507 (GRCm39) A85T probably damaging Het
Lifr G A 15: 7,194,174 (GRCm39) probably null Het
Lonp2 T G 8: 87,350,874 (GRCm39) S21R probably benign Het
Nxpe3 A G 16: 55,710,949 (GRCm39) V30A probably benign Het
Olfml1 T C 7: 107,167,010 (GRCm39) V13A probably benign Het
Or10w1 T C 19: 13,632,597 (GRCm39) V268A probably benign Het
Or1af1 A G 2: 37,109,681 (GRCm39) Y60C probably damaging Het
Pcnt G A 10: 76,210,996 (GRCm39) Q2376* probably null Het
Pglyrp2 A G 17: 32,635,996 (GRCm39) L380P probably damaging Het
Plin3 A G 17: 56,593,636 (GRCm39) V26A probably benign Het
Potefam1 T C 2: 111,041,996 (GRCm39) probably benign Het
Pramel25 A G 4: 143,519,580 (GRCm39) S114G probably damaging Het
Rims1 A G 1: 22,522,288 (GRCm39) I470T probably damaging Het
Rora T C 9: 69,281,374 (GRCm39) Y329H probably damaging Het
Scnn1b G A 7: 121,516,770 (GRCm39) R503H probably damaging Het
Sec14l1 A G 11: 117,035,675 (GRCm39) D237G possibly damaging Het
Selplg A G 5: 113,957,467 (GRCm39) S280P probably benign Het
Serpina12 A G 12: 104,004,140 (GRCm39) L164P probably benign Het
Sik2 C T 9: 50,828,903 (GRCm39) W176* probably null Het
Slc2a1 T C 4: 118,993,612 (GRCm39) F483S possibly damaging Het
Speg A G 1: 75,400,559 (GRCm39) D2573G possibly damaging Het
Stil C T 4: 114,867,308 (GRCm39) S239L probably damaging Het
Tmem94 C A 11: 115,685,571 (GRCm39) S941R probably damaging Het
Tnfrsf11b T A 15: 54,115,778 (GRCm39) D273V probably damaging Het
Tns2 A G 15: 102,020,725 (GRCm39) T864A probably benign Het
Zfpm2 A G 15: 40,962,890 (GRCm39) H184R 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
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
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