Incidental Mutation 'R1829:Asxl2'
ID 207138
Institutional Source Beutler Lab
Gene Symbol Asxl2
Ensembl Gene ENSMUSG00000037486
Gene Name ASXL transcriptional regulator 2
Synonyms 4930556B16Rik
MMRRC Submission 039856-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R1829 (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 3507125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 106 (S106P)
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: S106P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: S106P

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: S106P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: S106P

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 possibly damaging
Transcript: ENSMUST00000144247
AA Change: S106P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: S106P

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: S106P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: S106P

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,769,338 (GRCm39) D287V probably damaging Het
Abca12 A G 1: 71,334,188 (GRCm39) C1105R probably benign Het
Abca8b T A 11: 109,833,167 (GRCm39) N1178Y probably damaging Het
Abhd12 A G 2: 150,685,318 (GRCm39) L189P probably damaging Het
Acap2 G T 16: 30,929,752 (GRCm39) N435K probably damaging Het
Adam6b G T 12: 113,453,545 (GRCm39) G121C probably damaging Het
Adgrb1 C A 15: 74,452,435 (GRCm39) C200* probably null Het
Agbl5 T C 5: 31,060,408 (GRCm39) S730P possibly damaging Het
Ahsg G A 16: 22,711,078 (GRCm39) probably benign Het
Aldh9a1 A T 1: 167,189,423 (GRCm39) K390N probably benign Het
Alpk2 T A 18: 65,427,165 (GRCm39) H1857L possibly damaging Het
Apip T A 2: 102,919,007 (GRCm39) N102K probably benign Het
Atp2b2 G T 6: 113,750,329 (GRCm39) R677S probably damaging Het
Barhl1 A C 2: 28,799,857 (GRCm39) M256R probably damaging Het
Cacnb2 A T 2: 14,990,775 (GRCm39) Q619L possibly damaging Het
Ccdc137 C T 11: 120,349,038 (GRCm39) P23L probably benign Het
Cdh11 A T 8: 103,361,273 (GRCm39) N688K possibly damaging Het
Cdh18 C T 15: 23,173,938 (GRCm39) P51S probably damaging Het
Cdin1 G T 2: 115,473,173 (GRCm39) R101L possibly damaging Het
Cfhr1 A T 1: 139,481,338 (GRCm39) Y181N probably damaging Het
Chmp3 A G 6: 71,537,923 (GRCm39) D50G probably benign Het
Crem T C 18: 3,295,037 (GRCm39) probably null Het
Cyb561a3 G A 19: 10,559,757 (GRCm39) W27* probably null Het
Cyp2d12 C A 15: 82,442,257 (GRCm39) N297K possibly damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dnah12 T A 14: 26,522,032 (GRCm39) N1948K probably damaging Het
Dnah12 T C 14: 26,494,980 (GRCm39) L1346P probably damaging Het
Dsp T G 13: 38,377,171 (GRCm39) L1652R probably damaging Het
Dstyk G A 1: 132,377,333 (GRCm39) S66N probably benign Het
Ehhadh T C 16: 21,580,928 (GRCm39) E688G probably damaging Het
Emsy G T 7: 98,251,937 (GRCm39) H688N possibly damaging Het
Emsy T A 7: 98,251,936 (GRCm39) H688L possibly damaging Het
Endod1 A G 9: 14,268,222 (GRCm39) L421P probably damaging Het
Fam222b C T 11: 78,045,861 (GRCm39) P346L probably damaging Het
Fam3c G A 6: 22,309,436 (GRCm39) R182W probably damaging Het
Gck T C 11: 5,860,984 (GRCm39) D29G probably damaging Het
Gm10320 C A 13: 98,626,207 (GRCm39) R59L probably damaging Het
Gm21798 C T 15: 64,689,675 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,957 (GRCm39) T130A possibly damaging Het
Gpr153 T A 4: 152,366,849 (GRCm39) I334N possibly damaging Het
Greb1l T C 18: 10,509,314 (GRCm39) L542P probably damaging Het
H2-T15 G T 17: 36,368,896 (GRCm39) F61L probably damaging Het
Hacl1 T C 14: 31,362,491 (GRCm39) E52G probably benign Het
Ice2 A G 9: 69,314,635 (GRCm39) Y128C probably damaging Het
Ikzf2 T A 1: 69,581,446 (GRCm39) I121L probably benign Het
Ipcef1 C T 10: 6,869,900 (GRCm39) A167T probably benign Het
Jakmip2 T A 18: 43,715,145 (GRCm39) D127V possibly damaging Het
Jph4 T C 14: 55,352,368 (GRCm39) T122A probably damaging Het
Kcns2 A G 15: 34,838,949 (GRCm39) E104G probably damaging Het
Lars2 A C 9: 123,260,982 (GRCm39) R384S probably benign Het
Lsmem1 T A 12: 40,235,407 (GRCm39) H3L possibly damaging Het
Lsmem1 G T 12: 40,235,408 (GRCm39) H3N possibly damaging Het
Ly6g2 T G 15: 75,088,605 (GRCm39) probably null Het
Mfhas1 A C 8: 36,057,222 (GRCm39) S566R probably benign Het
Mfhas1 C G 8: 36,057,402 (GRCm39) R626G probably benign Het
Mgam A G 6: 40,643,826 (GRCm39) T585A probably damaging Het
Mmp25 T C 17: 23,858,997 (GRCm39) K185E probably benign Het
Mtch1 T C 17: 29,557,750 (GRCm39) I243V probably damaging Het
Mtcp1 A T X: 74,455,271 (GRCm39) Y25* probably null Het
Mybl2 A G 2: 162,901,503 (GRCm39) T35A probably benign Het
Myh11 T C 16: 14,041,744 (GRCm39) E736G probably damaging Het
Myh2 T C 11: 67,067,385 (GRCm39) I224T probably damaging Het
Mymx T C 17: 45,912,759 (GRCm39) probably benign Het
Nek10 A G 14: 14,863,454 (GRCm38) probably null Het
Nsd1 A T 13: 55,394,182 (GRCm39) K697N probably damaging Het
Nynrin A G 14: 56,110,404 (GRCm39) D1837G possibly damaging Het
Or14j4 G A 17: 37,921,168 (GRCm39) T158I probably benign Het
Or2ag2b A G 7: 106,418,214 (GRCm39) H308R probably benign Het
Or52s1 A T 7: 102,861,093 (GRCm39) T9S probably benign Het
Or5p81 T A 7: 108,266,851 (GRCm39) I76N probably benign Het
Or6k4 T A 1: 173,964,760 (GRCm39) I150N probably benign Het
Pgap6 T C 17: 26,341,194 (GRCm39) Y766H probably damaging Het
Phf19 T C 2: 34,801,781 (GRCm39) T10A probably benign Het
Pkd1 A T 17: 24,784,558 (GRCm39) H368L probably benign Het
Plscr2 A G 9: 92,172,808 (GRCm39) R156G probably damaging Het
Ppp1r42 G A 1: 10,070,311 (GRCm39) R61C probably benign Het
Pptc7 T G 5: 122,451,679 (GRCm39) V45G probably damaging Het
Prlhr G A 19: 60,455,867 (GRCm39) T233I probably damaging Het
Prr23a4 T A 9: 98,785,446 (GRCm39) I37N possibly damaging Het
Reps1 C T 10: 17,983,462 (GRCm39) T435I probably damaging Het
Ret T A 6: 118,130,912 (GRCm39) T1084S probably damaging Het
Rgl2 T A 17: 34,152,595 (GRCm39) M402K probably benign Het
Rp2 A G X: 20,243,154 (GRCm39) K43R probably benign Het
Rundc3b A T 5: 8,629,117 (GRCm39) W95R probably damaging Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Scnn1b G A 7: 121,502,068 (GRCm39) R242H probably benign Het
Smad4 G T 18: 73,774,965 (GRCm39) Q445K probably benign Het
Smchd1 G T 17: 71,677,332 (GRCm39) P1486T probably damaging Het
Snx25 G T 8: 46,488,669 (GRCm39) N895K possibly damaging Het
Sox2 A G 3: 34,704,890 (GRCm39) D109G probably damaging Het
Stfa2 A T 16: 36,225,564 (GRCm39) N38K probably damaging Het
Stfa2 C A 16: 36,225,573 (GRCm39) E35D possibly damaging Het
Stfa3 A G 16: 36,271,023 (GRCm39) L87P probably damaging Het
Strbp T C 2: 37,530,921 (GRCm39) D111G possibly damaging Het
Supt20 C A 3: 54,635,079 (GRCm39) probably benign Het
Svep1 A G 4: 58,096,310 (GRCm39) Y1437H possibly damaging Het
Tbx4 T A 11: 85,802,746 (GRCm39) probably null Het
Tmem117 A T 15: 94,992,432 (GRCm39) N364I probably damaging Het
Trat1 T C 16: 48,581,742 (GRCm39) E45G probably damaging Het
Trpc2 G A 7: 101,733,326 (GRCm39) D92N probably damaging Het
Trpm1 G A 7: 63,876,530 (GRCm39) D528N probably damaging Het
Ttll9 A G 2: 152,842,156 (GRCm39) S337G possibly damaging Het
Utrn A T 10: 12,351,018 (GRCm39) I355N probably damaging Het
Vangl1 A G 3: 102,070,782 (GRCm39) S385P probably benign Het
Vmn1r209 A G 13: 22,990,409 (GRCm39) S94P possibly damaging Het
Vmn2r28 T A 7: 5,496,810 (GRCm39) Q14L probably benign Het
Vps45 A G 3: 95,954,557 (GRCm39) probably null Het
Wdr48 T C 9: 119,733,396 (GRCm39) V81A probably benign Het
Xpnpep2 A G X: 47,214,230 (GRCm39) N476S probably benign Het
Zbtb41 A T 1: 139,374,660 (GRCm39) K707* probably null Het
Zfp442 A C 2: 150,250,983 (GRCm39) C306W probably damaging Het
Zfp811 T C 17: 33,017,116 (GRCm39) N307S possibly damaging Het
Zfp976 A G 7: 42,265,735 (GRCm39) W17R probably damaging Het
Zyg11b T C 4: 108,123,290 (GRCm39) T226A possibly 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
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 PCR Primer
(F):5'- AAGGATTTCGGCAAGTATTTATGG -3'
(R):5'- TTCATGATGCTAGTGGCTGC -3'

Sequencing Primer
(F):5'- ATTTCGGCAAGTATTTATGGTTTTAC -3'
(R):5'- TTGGACCCCTGCAAGAGACTATTG -3'
Posted On 2014-06-23