Incidental Mutation 'IGL01543:Asxl1'
ID90231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asxl1
Ensembl Gene ENSMUSG00000042548
Gene Nameadditional sex combs like 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01543
Quality Score
Status
Chromosome2
Chromosomal Location153345829-153404007 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 153401484 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 1318 (G1318D)
Ref Sequence ENSEMBL: ENSMUSP00000154224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109790] [ENSMUST00000227428]
Predicted Effect probably benign
Transcript: ENSMUST00000109790
AA Change: G1319D

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105413
Gene: ENSMUSG00000042548
AA Change: G1319D

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: G1318D

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,676 I204T probably benign Het
Abhd16a T C 17: 35,091,037 S69P probably damaging Het
Ampd1 C T 3: 103,095,713 T582I probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arid1a A T 4: 133,681,722 F1825I unknown Het
B4galnt3 G A 6: 120,209,312 H807Y probably benign Het
Bpifb5 G T 2: 154,233,249 V366F possibly damaging Het
Caskin1 T C 17: 24,504,548 V770A probably benign Het
Ccdc152 G A 15: 3,298,124 T57I possibly damaging Het
Ccs T C 19: 4,834,241 E61G possibly damaging Het
Chsy3 G A 18: 59,410,400 W870* probably null Het
Col8a1 G A 16: 57,627,734 P471L unknown Het
Cyp2j6 A C 4: 96,525,924 V368G possibly damaging Het
Dnajc3 T C 14: 118,960,862 probably null Het
Dpep3 A T 8: 105,976,182 M316K probably damaging Het
Galntl5 A G 5: 25,195,351 E126G probably damaging Het
Gli1 T C 10: 127,332,478 N502S probably damaging Het
Hus1 A G 11: 9,000,082 L213P probably benign Het
Hypk A G 2: 121,457,295 probably null Het
Igkv4-59 T A 6: 69,438,361 Y70F probably damaging Het
Impdh1 A C 6: 29,203,378 V14G probably damaging Het
Kif26b A G 1: 178,678,961 M201V probably benign Het
Macf1 A G 4: 123,401,457 I5323T probably damaging Het
Mmp16 C T 4: 18,051,743 A244V probably damaging Het
Obscn T C 11: 59,042,117 D5619G probably benign Het
Olfr704 T C 7: 106,865,918 S313P probably benign Het
Pcdh7 T C 5: 57,720,765 V554A probably damaging Het
Piezo2 T C 18: 63,070,030 E1513G probably damaging Het
Rab6b A G 9: 103,162,638 D75G probably damaging Het
Ryr1 T C 7: 29,091,076 Y1435C probably damaging Het
Scarf2 A G 16: 17,802,549 N81S probably damaging Het
Six5 G A 7: 19,096,347 A300T possibly damaging Het
Skap2 T A 6: 52,012,395 N3Y possibly damaging Het
Skint6 A T 4: 112,899,963 S734T probably benign Het
Slc15a4 A C 5: 127,603,766 H396Q probably benign Het
Slco6c1 A G 1: 97,125,828 M116T possibly damaging Het
Slfn9 T C 11: 82,987,949 D118G probably benign Het
Trim3 T C 7: 105,613,313 D546G probably damaging Het
Trpa1 A G 1: 14,900,076 L362P probably damaging Het
Vasn A G 16: 4,649,892 T568A possibly damaging Het
Vwa5b2 A G 16: 20,595,716 M281V probably benign Het
Wwp2 A G 8: 107,483,368 E126G probably damaging Het
Zfp398 G A 6: 47,866,063 G350S probably damaging Het
Other mutations in Asxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Asxl1 APN 2 153392940 splice site probably benign
IGL01432:Asxl1 APN 2 153400205 missense probably benign 0.38
IGL02355:Asxl1 APN 2 153401786 missense probably benign 0.34
IGL02362:Asxl1 APN 2 153401786 missense probably benign 0.34
IGL02645:Asxl1 APN 2 153392857 missense possibly damaging 0.94
IGL02696:Asxl1 APN 2 153400195 nonsense probably null
IGL03365:Asxl1 APN 2 153401754 missense probably damaging 1.00
IGL03372:Asxl1 APN 2 153400413 missense probably damaging 0.99
IGL03377:Asxl1 APN 2 153396780 missense probably damaging 1.00
astrophel UTSW 2 153400106 missense possibly damaging 0.75
hairbrush UTSW 2 153400724 missense possibly damaging 0.55
R0044:Asxl1 UTSW 2 153400209 missense probably benign 0.06
R0044:Asxl1 UTSW 2 153400209 missense probably benign 0.06
R0600:Asxl1 UTSW 2 153399904 missense probably benign 0.00
R0659:Asxl1 UTSW 2 153400724 missense possibly damaging 0.55
R0661:Asxl1 UTSW 2 153400724 missense possibly damaging 0.55
R0684:Asxl1 UTSW 2 153397522 missense probably damaging 1.00
R1606:Asxl1 UTSW 2 153400455 missense probably damaging 0.99
R1747:Asxl1 UTSW 2 153393454 missense possibly damaging 0.86
R1796:Asxl1 UTSW 2 153401606 missense probably benign 0.31
R1914:Asxl1 UTSW 2 153401906 missense probably damaging 1.00
R2099:Asxl1 UTSW 2 153352267 missense possibly damaging 0.95
R2373:Asxl1 UTSW 2 153401900 missense probably benign 0.13
R2910:Asxl1 UTSW 2 153401039 missense probably benign 0.00
R3620:Asxl1 UTSW 2 153357155 missense probably damaging 1.00
R3701:Asxl1 UTSW 2 153399344 missense probably benign 0.04
R4200:Asxl1 UTSW 2 153400106 missense possibly damaging 0.75
R4773:Asxl1 UTSW 2 153401985 missense probably damaging 1.00
R4902:Asxl1 UTSW 2 153399831 missense probably benign 0.02
R5100:Asxl1 UTSW 2 153397931 missense probably damaging 1.00
R5102:Asxl1 UTSW 2 153400955 missense probably benign 0.00
R5166:Asxl1 UTSW 2 153401121 missense probably damaging 1.00
R5421:Asxl1 UTSW 2 153399584 missense probably benign 0.04
R5701:Asxl1 UTSW 2 153399489 missense probably damaging 1.00
R5861:Asxl1 UTSW 2 153399390 missense probably damaging 0.99
R5973:Asxl1 UTSW 2 153402011 missense probably damaging 0.97
R6384:Asxl1 UTSW 2 153391824 critical splice donor site probably null
R7023:Asxl1 UTSW 2 153400549 missense probably benign 0.00
R7028:Asxl1 UTSW 2 153400107 missense probably benign 0.00
X0024:Asxl1 UTSW 2 153401985 missense probably damaging 1.00
Posted On2013-12-03