Incidental Mutation 'R4446:Asxl2'
ID 329907
Institutional Source Beutler Lab
Gene Symbol Asxl2
Ensembl Gene ENSMUSG00000037486
Gene Name ASXL transcriptional regulator 2
Synonyms 4930556B16Rik
MMRRC Submission 041707-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R4446 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 3476857-3556852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3551774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1172 (V1172E)
Ref Sequence ENSEMBL: ENSMUSP00000106846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092003] [ENSMUST00000111215] [ENSMUST00000153102]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000092003
SMART Domains Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486

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 possibly damaging
Transcript: ENSMUST00000111215
AA Change: V1172E

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: V1172E

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 noncoding transcript
Transcript: ENSMUST00000152196
Predicted Effect probably benign
Transcript: ENSMUST00000153102
AA Change: V1172E

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: V1172E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219208
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 91% (43/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T A 1: 192,515,731 (GRCm39) noncoding transcript Het
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Akt1 C T 12: 112,625,567 (GRCm39) R144H probably benign Het
Arrdc3 T C 13: 81,037,182 (GRCm39) probably benign Het
Atp9a C T 2: 168,523,917 (GRCm39) A242T possibly damaging Het
C2cd3 C T 7: 100,023,684 (GRCm39) T90I probably damaging Het
C4bp A G 1: 130,570,692 (GRCm39) S295P probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cep131 T C 11: 119,955,645 (GRCm39) E1025G probably damaging Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Dgkb G T 12: 38,234,952 (GRCm39) G439V probably damaging Het
Dgkh A G 14: 78,865,523 (GRCm39) V20A probably damaging Het
Dipk1a T C 5: 108,072,500 (GRCm39) Y52C probably damaging Het
Dysf A G 6: 84,182,854 (GRCm39) N2035S probably damaging Het
Fzd1 A G 5: 4,805,777 (GRCm39) Y602H probably damaging Het
Gm38706 C A 6: 130,460,273 (GRCm39) noncoding transcript Het
Hmmr T C 11: 40,606,148 (GRCm39) Q274R probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Klf5 C T 14: 99,539,666 (GRCm39) R360C probably damaging Het
Lrat A G 3: 82,804,293 (GRCm39) M228T probably damaging Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo3a A T 2: 22,490,149 (GRCm39) K565N probably damaging Het
Or10n1 A T 9: 39,525,294 (GRCm39) I144L probably benign Het
Or1ad6 C T 11: 50,860,690 (GRCm39) P282S probably damaging Het
Or3a1d T C 11: 74,237,588 (GRCm39) D274G probably benign Het
Pcdha6 A G 18: 37,100,813 (GRCm39) D2G probably benign Het
Pcdhga3 A G 18: 37,808,938 (GRCm39) R464G probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pramel42 T A 5: 94,685,702 (GRCm39) I454K probably damaging Het
Rnf13 A C 3: 57,728,010 (GRCm39) K230T probably damaging Het
Sema6d A G 2: 124,505,979 (GRCm39) M596V probably damaging Het
Slc25a25 T C 2: 32,320,621 (GRCm39) K47E probably benign Het
Sptbn1 C T 11: 30,089,114 (GRCm39) R716H possibly damaging Het
Ssx2ip G A 3: 146,132,186 (GRCm39) V216I probably benign Het
Tatdn2 T G 6: 113,679,501 (GRCm39) probably null Het
Tmprss6 A G 15: 78,337,039 (GRCm39) Y356H probably damaging Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Umod A G 7: 119,065,279 (GRCm39) probably null Het
Vmn2r93 T A 17: 18,524,312 (GRCm39) I102K possibly damaging Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V probably benign 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
R0323: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
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 PCR Primer
(F):5'- CAACTGGAGAAATCAGCAGC -3'
(R):5'- AGCTTGGCCCTATCTGTGTG -3'

Sequencing Primer
(F):5'- TCAGCAGCAAAGAAGATGAAAGTG -3'
(R):5'- CCATACAATTTGGGGGTTTGCAG -3'
Posted On 2015-07-21