Incidental Mutation 'R0323:Asxl2'
ID 65035
Institutional Source Beutler Lab
Gene Symbol Asxl2
Ensembl Gene ENSMUSG00000037486
Gene Name ASXL transcriptional regulator 2
Synonyms 4930556B16Rik
MMRRC Submission 038533-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R0323 (G1)
Quality Score 131
Status Not validated
Chromosome 12
Chromosomal Location 3476857-3556852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3492487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 24 (Y24C)
Ref Sequence ENSEMBL: ENSMUSP00000117384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092003] [ENSMUST00000111215] [ENSMUST00000144247] [ENSMUST00000153102]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000092003
AA Change: Y24C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: Y24C

DomainStartEndE-ValueType
Pfam:HARE-HTH 11 83 1.2e-22 PFAM
low complexity region 95 122 N/A INTRINSIC
low complexity region 126 154 N/A INTRINSIC
low complexity region 162 185 N/A INTRINSIC
Pfam:ASXH 204 336 1.2e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111215
AA Change: Y24C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: Y24C

DomainStartEndE-ValueType
Pfam:HARE-HTH 11 83 3.6e-22 PFAM
low complexity region 95 122 N/A INTRINSIC
low complexity region 126 154 N/A INTRINSIC
low complexity region 162 185 N/A INTRINSIC
Pfam:ASXH 204 336 4.2e-52 PFAM
low complexity region 614 637 N/A INTRINSIC
low complexity region 640 658 N/A INTRINSIC
low complexity region 849 870 N/A INTRINSIC
low complexity region 1115 1124 N/A INTRINSIC
low complexity region 1236 1251 N/A INTRINSIC
Pfam:PHD_3 1305 1368 1.1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138740
SMART Domains Protein: ENSMUSP00000133639
Gene: ENSMUSG00000037486

DomainStartEndE-ValueType
Pfam:HARE-HTH 1 54 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140046
Predicted Effect probably damaging
Transcript: ENSMUST00000144247
AA Change: Y24C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: Y24C

DomainStartEndE-ValueType
Pfam:HARE-HTH 11 83 5.2e-23 PFAM
low complexity region 95 122 N/A INTRINSIC
low complexity region 126 154 N/A INTRINSIC
low complexity region 162 185 N/A INTRINSIC
low complexity region 221 244 N/A INTRINSIC
Pfam:ASXH 252 384 7e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153102
AA Change: Y24C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: Y24C

DomainStartEndE-ValueType
Pfam:HARE-HTH 11 83 1.6e-23 PFAM
low complexity region 95 122 N/A INTRINSIC
low complexity region 126 154 N/A INTRINSIC
low complexity region 162 185 N/A INTRINSIC
Pfam:ASXH 211 335 6.9e-38 PFAM
low complexity region 614 637 N/A INTRINSIC
low complexity region 640 658 N/A INTRINSIC
low complexity region 849 870 N/A INTRINSIC
low complexity region 1115 1124 N/A INTRINSIC
low complexity region 1236 1251 N/A INTRINSIC
Pfam:PHD_3 1308 1368 7.6e-29 PFAM
Meta Mutation Damage Score 0.5353 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 94.2%
  • 20x: 86.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a homolog of the Drosophila Asx gene, which interacts with genes involved in axial patterning. Mice with mutations in this gene display abnormal patterning of the axial skeleton, suggesting a similar function in mice as in Drosophila. This gene may also be involved in bone mineral density, specifically osteoclastogenesis. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a severe hypomorphic allele display prenatal and postnatal lethality, premature death, vertebral transformations and splitting, decreased body weight, enlarged hearts, and age-related cardiac interstitial fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,446,674 (GRCm39) T816S possibly damaging Het
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
4931429P17Rik A C 13: 48,114,493 (GRCm39) noncoding transcript Het
Abca13 A C 11: 9,244,701 (GRCm39) D2188A probably benign Het
Accsl T A 2: 93,691,425 (GRCm39) Q351L probably benign Het
Acot6 A C 12: 84,155,953 (GRCm39) E300D probably benign Het
Adgre1 T A 17: 57,751,060 (GRCm39) I578N probably benign Het
Agbl4 T C 4: 111,474,419 (GRCm39) S403P probably damaging Het
Agps T A 2: 75,724,505 (GRCm39) Y506* probably null Het
Appl1 A T 14: 26,664,695 (GRCm39) V446D possibly damaging Het
Arcn1 A T 9: 44,670,356 (GRCm39) I90N probably damaging Het
Aspscr1 G A 11: 120,569,246 (GRCm39) V15I probably damaging Het
Atp8b1 A G 18: 64,701,323 (GRCm39) F345S possibly damaging Het
Barx1 A G 13: 48,819,430 (GRCm39) T243A probably benign Het
Bltp1 T A 3: 36,997,331 (GRCm39) C1129* probably null Het
Bmp2k A G 5: 97,235,682 (GRCm39) probably benign Het
Cacul1 A G 19: 60,531,498 (GRCm39) I257T probably benign Het
Chml A T 1: 175,514,650 (GRCm39) F424I probably benign Het
Clcn1 A T 6: 42,287,074 (GRCm39) E710D probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cylc2 T A 4: 51,228,477 (GRCm39) S183T unknown Het
Dhtkd1 T A 2: 5,919,699 (GRCm39) M561L probably benign Het
Dnajc13 A G 9: 104,034,091 (GRCm39) S2188P probably damaging Het
Dyrk1b C A 7: 27,884,781 (GRCm39) Q399K probably benign Het
Erc1 T C 6: 119,597,289 (GRCm39) K1003E probably damaging Het
Ezr G A 17: 7,022,164 (GRCm39) Q105* probably null Het
Fam83d T A 2: 158,627,467 (GRCm39) D385E probably benign Het
Fbn2 A G 18: 58,178,389 (GRCm39) C1950R probably damaging Het
Fbxo32 A T 15: 58,047,605 (GRCm39) I236N probably damaging Het
Fcgr1 T C 3: 96,193,145 (GRCm39) E284G possibly damaging Het
Foxe3 T C 4: 114,782,805 (GRCm39) N136D probably damaging Het
Fscn2 A T 11: 120,258,837 (GRCm39) I461F probably damaging Het
Fsip2 T C 2: 82,816,240 (GRCm39) I3991T probably benign Het
Galnt15 A T 14: 31,770,042 (GRCm39) H249L probably damaging Het
Gm10803 T A 2: 93,394,415 (GRCm39) Y62* probably null Het
Gm20730 G A 6: 43,058,449 (GRCm39) probably null Het
Gm4841 A G 18: 60,403,718 (GRCm39) L125S possibly damaging Het
Gmpr2 A G 14: 55,910,203 (GRCm39) D11G probably damaging Het
Gucy1b1 T A 3: 81,945,463 (GRCm39) probably null Het
Hhla1 C A 15: 65,820,352 (GRCm39) V133F probably benign Het
Hscb T C 5: 110,982,556 (GRCm39) E177G possibly damaging Het
Hyal4 A T 6: 24,756,193 (GRCm39) N137I probably benign Het
Lcp2 A G 11: 34,004,322 (GRCm39) D53G probably damaging Het
Ldb3 G A 14: 34,266,002 (GRCm39) T531I probably damaging Het
Llgl2 A G 11: 115,741,546 (GRCm39) K559E probably damaging Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Lrp2 T C 2: 69,299,983 (GRCm39) Y3023C probably damaging Het
Lrrc59 A C 11: 94,534,248 (GRCm39) T269P probably damaging Het
Lrriq1 A T 10: 103,057,150 (GRCm39) C217S possibly damaging Het
Mmrn2 A T 14: 34,119,991 (GRCm39) Q287L probably damaging Het
Mplkip A G 13: 17,871,565 (GRCm39) I159V possibly damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Nrxn1 A C 17: 91,008,170 (GRCm39) probably null Het
Or10ag60 G A 2: 87,437,841 (GRCm39) M36I probably benign Het
Or1e17 A T 11: 73,831,773 (GRCm39) I234F probably benign Het
Or6c70 T A 10: 129,709,936 (GRCm39) Q230L probably damaging Het
Or6d15 A T 6: 116,559,562 (GRCm39) V115E probably damaging Het
Or6n2 A G 1: 173,896,893 (GRCm39) T10A probably benign Het
Orc4 A T 2: 48,827,479 (GRCm39) V38E possibly damaging Het
Palm3 T A 8: 84,755,349 (GRCm39) V287D probably damaging Het
Pde11a C T 2: 75,877,118 (GRCm39) probably null Het
Pdss2 T A 10: 43,248,172 (GRCm39) H225Q probably benign Het
Pkhd1 A T 1: 20,345,762 (GRCm39) D2755E probably benign Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Polrmt T C 10: 79,577,832 (GRCm39) T287A probably benign Het
Ppfia2 A G 10: 106,732,281 (GRCm39) I943V possibly damaging Het
Pth2r A C 1: 65,427,775 (GRCm39) I483L probably benign Het
Qrsl1 A G 10: 43,772,003 (GRCm39) probably null Het
Ralgapa1 A T 12: 55,724,023 (GRCm39) I1548N probably damaging Het
Scn9a T C 2: 66,398,475 (GRCm39) E45G probably damaging Het
Sf3b1 T C 1: 55,058,416 (GRCm39) I58V probably damaging Het
Sh3d19 T A 3: 86,033,978 (GRCm39) M777K probably benign Het
Shc1 T C 3: 89,331,020 (GRCm39) L106P probably damaging Het
Skint5 T C 4: 113,794,818 (GRCm39) H255R probably benign Het
Slc28a3 C A 13: 58,711,866 (GRCm39) G487* probably null Het
Slc49a4 ACC AC 16: 35,539,730 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,777 (GRCm39) R188S probably damaging Het
Slitrk5 A G 14: 111,919,055 (GRCm39) D893G probably damaging Het
Spta1 A G 1: 174,046,017 (GRCm39) T1594A probably damaging Het
Srarp G A 4: 141,160,690 (GRCm39) Q48* probably null Het
Srf T C 17: 46,860,415 (GRCm39) T456A possibly damaging Het
Stx2 C T 5: 129,065,967 (GRCm39) V230I probably benign Het
Tenm4 C A 7: 96,344,157 (GRCm39) P250Q possibly damaging Het
Tnrc6c A G 11: 117,630,707 (GRCm39) K1023E probably damaging Het
Trpc6 A T 9: 8,610,276 (GRCm39) H248L probably damaging Het
Trpc6 A G 9: 8,643,537 (GRCm39) K441E probably damaging Het
Uty T A Y: 1,169,979 (GRCm39) I326F probably damaging Het
Vmn1r63 A G 7: 5,806,335 (GRCm39) V99A probably benign Het
Wnt11 A G 7: 98,496,590 (GRCm39) K177E probably damaging Het
Wwc1 T A 11: 35,743,175 (GRCm39) E882V probably damaging Het
Zfhx2 C A 14: 55,303,436 (GRCm39) S1516I possibly damaging Het
Zmpste24 A G 4: 120,940,050 (GRCm39) Y199H probably damaging Het
Other mutations in Asxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Asxl2 APN 12 3,524,560 (GRCm39) missense probably damaging 1.00
IGL01301:Asxl2 APN 12 3,551,425 (GRCm39) missense probably damaging 1.00
IGL01325:Asxl2 APN 12 3,477,172 (GRCm39) missense probably damaging 0.98
IGL01689:Asxl2 APN 12 3,546,425 (GRCm39) missense probably benign 0.28
IGL01871:Asxl2 APN 12 3,552,112 (GRCm39) missense probably benign 0.38
IGL02164:Asxl2 APN 12 3,552,079 (GRCm39) missense probably benign 0.00
IGL02609:Asxl2 APN 12 3,550,018 (GRCm39) missense probably damaging 1.00
IGL03191:Asxl2 APN 12 3,550,094 (GRCm39) missense probably damaging 1.00
Blinder UTSW 12 3,492,529 (GRCm39) missense probably damaging 0.99
Fob UTSW 12 3,534,531 (GRCm39) missense probably damaging 1.00
peaky UTSW 12 3,526,040 (GRCm39) missense possibly damaging 0.91
ANU18:Asxl2 UTSW 12 3,551,425 (GRCm39) missense probably damaging 1.00
R0092:Asxl2 UTSW 12 3,546,313 (GRCm39) missense probably benign 0.00
R0118:Asxl2 UTSW 12 3,546,923 (GRCm39) missense probably damaging 1.00
R0277:Asxl2 UTSW 12 3,492,487 (GRCm39) missense probably damaging 1.00
R0584:Asxl2 UTSW 12 3,546,632 (GRCm39) missense probably damaging 0.96
R0885:Asxl2 UTSW 12 3,551,458 (GRCm39) missense probably damaging 1.00
R1344:Asxl2 UTSW 12 3,543,790 (GRCm39) missense probably damaging 1.00
R1456:Asxl2 UTSW 12 3,551,872 (GRCm39) missense possibly damaging 0.70
R1829:Asxl2 UTSW 12 3,507,125 (GRCm39) missense probably damaging 1.00
R1909:Asxl2 UTSW 12 3,524,577 (GRCm39) missense probably damaging 1.00
R1990:Asxl2 UTSW 12 3,534,558 (GRCm39) nonsense probably null
R2074:Asxl2 UTSW 12 3,543,779 (GRCm39) missense probably damaging 1.00
R2883:Asxl2 UTSW 12 3,551,830 (GRCm39) missense probably benign 0.03
R2912:Asxl2 UTSW 12 3,524,517 (GRCm39) missense probably benign 0.06
R4446:Asxl2 UTSW 12 3,551,774 (GRCm39) missense possibly damaging 0.54
R4662:Asxl2 UTSW 12 3,477,193 (GRCm39) missense probably damaging 0.99
R4726:Asxl2 UTSW 12 3,551,872 (GRCm39) missense possibly damaging 0.70
R5034:Asxl2 UTSW 12 3,552,193 (GRCm39) missense probably damaging 0.98
R5287:Asxl2 UTSW 12 3,546,893 (GRCm39) missense probably benign 0.02
R5377:Asxl2 UTSW 12 3,524,618 (GRCm39) splice site probably null
R5611:Asxl2 UTSW 12 3,534,598 (GRCm39) missense probably damaging 1.00
R5708:Asxl2 UTSW 12 3,550,603 (GRCm39) missense possibly damaging 0.82
R5945:Asxl2 UTSW 12 3,550,439 (GRCm39) missense possibly damaging 0.82
R6154:Asxl2 UTSW 12 3,546,593 (GRCm39) missense possibly damaging 0.60
R6288:Asxl2 UTSW 12 3,526,040 (GRCm39) missense possibly damaging 0.91
R6405:Asxl2 UTSW 12 3,543,758 (GRCm39) missense probably damaging 0.99
R6938:Asxl2 UTSW 12 3,526,149 (GRCm39) missense probably damaging 0.98
R7146:Asxl2 UTSW 12 3,507,066 (GRCm39) missense probably damaging 1.00
R7354:Asxl2 UTSW 12 3,505,637 (GRCm39) intron probably benign
R7396:Asxl2 UTSW 12 3,492,529 (GRCm39) missense probably damaging 0.99
R7438:Asxl2 UTSW 12 3,477,108 (GRCm39) start gained probably benign
R7980:Asxl2 UTSW 12 3,546,630 (GRCm39) missense probably damaging 0.99
R7991:Asxl2 UTSW 12 3,534,531 (GRCm39) missense probably damaging 1.00
R8063:Asxl2 UTSW 12 3,550,768 (GRCm39) missense probably benign 0.01
R8156:Asxl2 UTSW 12 3,546,760 (GRCm39) missense probably benign 0.09
R8396:Asxl2 UTSW 12 3,552,220 (GRCm39) missense probably benign
R8773:Asxl2 UTSW 12 3,507,200 (GRCm39) missense probably damaging 0.97
R8792:Asxl2 UTSW 12 3,546,536 (GRCm39) missense probably benign 0.00
R8827:Asxl2 UTSW 12 3,550,501 (GRCm39) missense probably benign
R9221:Asxl2 UTSW 12 3,552,310 (GRCm39) missense probably damaging 1.00
R9584:Asxl2 UTSW 12 3,550,667 (GRCm39) missense possibly damaging 0.86
R9796:Asxl2 UTSW 12 3,546,508 (GRCm39) missense probably benign 0.00
Z1177:Asxl2 UTSW 12 3,524,589 (GRCm39) missense probably damaging 0.96
Predicted Primers
Posted On 2013-08-08