Incidental Mutation 'R5611:Asxl2'
ID 438040
Institutional Source Beutler Lab
Gene Symbol Asxl2
Ensembl Gene ENSMUSG00000037486
Gene Name ASXL transcriptional regulator 2
Synonyms 4930556B16Rik
MMRRC Submission 043273-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R5611 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 3476857-3556852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3534598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 265 (V265A)
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: V265A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: V265A

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: V265A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: V265A

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 probably damaging
Transcript: ENSMUST00000144247
AA Change: V313A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: V313A

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: V265A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: V265A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 G C 11: 48,910,828 (GRCm39) T535R possibly damaging Het
Adam34 A T 8: 44,104,749 (GRCm39) F299I probably benign Het
Adamts20 A G 15: 94,171,161 (GRCm39) M1854T possibly damaging Het
Adrm1b G A 3: 92,335,758 (GRCm39) P315S probably damaging Het
Apbb1 A G 7: 105,208,690 (GRCm39) V581A probably damaging Het
Apol6 T A 15: 76,935,240 (GRCm39) probably null Het
Arhgef37 T C 18: 61,640,334 (GRCm39) T242A probably benign Het
Bicd1 A T 6: 149,414,954 (GRCm39) R556* probably null Het
C2 A G 17: 35,091,360 (GRCm39) I101T probably damaging Het
Cd22 T A 7: 30,577,575 (GRCm39) probably benign Het
Cd33 T C 7: 43,181,542 (GRCm39) H206R probably damaging Het
Cd5l G A 3: 87,275,082 (GRCm39) G207D possibly damaging Het
Chrd A T 16: 20,557,724 (GRCm39) D774V probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Csn1s1 A T 5: 87,825,503 (GRCm39) probably null Het
Dpyd G A 3: 118,987,942 (GRCm39) V704I probably benign Het
Dscc1 C A 15: 54,945,569 (GRCm39) Q312H probably benign Het
Dysf A T 6: 84,041,860 (GRCm39) T154S probably damaging Het
Foxi2 T C 7: 135,013,433 (GRCm39) V221A probably benign Het
Gabbr2 A T 4: 46,804,105 (GRCm39) I250N probably damaging Het
Gfap T A 11: 102,787,895 (GRCm39) T17S probably benign Het
Hcrtr2 A G 9: 76,230,596 (GRCm39) V64A probably damaging Het
Igkv4-86 A G 6: 68,887,659 (GRCm39) S27P probably damaging Het
Kalrn G T 16: 33,996,150 (GRCm39) F903L probably damaging Het
Lrrc31 A G 3: 30,745,304 (GRCm39) probably null Het
Mlh3 T C 12: 85,314,219 (GRCm39) T656A probably benign Het
Mss51 G T 14: 20,533,174 (GRCm39) S432R possibly damaging Het
Mzf1 A G 7: 12,778,554 (GRCm39) probably benign Het
Nop58 T A 1: 59,749,672 (GRCm39) probably benign Het
Or10al5 A T 17: 38,062,975 (GRCm39) I77F possibly damaging Het
Otogl T C 10: 107,622,630 (GRCm39) E1652G probably damaging Het
Pikfyve C A 1: 65,295,247 (GRCm39) N1459K probably damaging Het
Pkn3 G A 2: 29,969,673 (GRCm39) G61D probably damaging Het
Plekha4 T C 7: 45,203,065 (GRCm39) S581P probably benign Het
Ppm1g A G 5: 31,363,441 (GRCm39) F256L probably damaging Het
Proser1 A G 3: 53,386,296 (GRCm39) N726S probably benign Het
Rapgef1 A G 2: 29,592,448 (GRCm39) D480G probably damaging Het
Reln G A 5: 22,244,663 (GRCm39) Q772* probably null Het
Sh3gl2 T C 4: 85,273,568 (GRCm39) V40A probably benign Het
Slc22a23 G A 13: 34,489,222 (GRCm39) T221I probably benign Het
Slc22a28 T A 19: 8,040,698 (GRCm39) T518S probably damaging Het
Slc4a1ap A G 5: 31,711,173 (GRCm39) probably benign Het
St8sia4 T C 1: 95,555,409 (GRCm39) D207G probably damaging Het
Syde1 T A 10: 78,421,725 (GRCm39) T609S probably benign Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Tle4 T C 19: 14,427,159 (GRCm39) D754G probably damaging Het
Ttn C T 2: 76,562,869 (GRCm39) W26949* probably null Het
Vmn1r222 A C 13: 23,416,743 (GRCm39) S157A probably damaging Het
Vmn1r51 T A 6: 90,106,692 (GRCm39) L203M probably benign Het
Vmn1r6 T C 6: 56,979,362 (GRCm39) L8P probably damaging Het
Vmn2r103 A G 17: 20,013,904 (GRCm39) D232G probably damaging Het
Vmn2r17 T A 5: 109,576,030 (GRCm39) D300E probably damaging Het
Vmn2r66 T A 7: 84,654,951 (GRCm39) K453* probably null Het
Vps13a A T 19: 16,702,936 (GRCm39) D672E probably damaging Het
Vps54 A G 11: 21,261,130 (GRCm39) N599S possibly damaging Het
Zc3h13 A T 14: 75,568,348 (GRCm39) N1214Y probably benign Het
Zc3h18 T G 8: 123,135,109 (GRCm39) probably null Het
Zfp51 A G 17: 21,684,354 (GRCm39) E323G 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
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
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
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'- CTTTGCCTTGGACATTTCTAAGATC -3'
(R):5'- AACCATTCCCTGATCATTGGTTG -3'

Sequencing Primer
(F):5'- CTACACGGCAAACTATGATTAGATAG -3'
(R):5'- AATACTCTCTGTAGACCAGGCTGG -3'
Posted On 2016-10-26