Incidental Mutation 'R1720:Asxl3'
ID 191422
Institutional Source Beutler Lab
Gene Symbol Asxl3
Ensembl Gene ENSMUSG00000045215
Gene Name ASXL transcriptional regulator 3
Synonyms D430002O22Rik, C230079D11Rik, LOC381127, D930044O18Rik
MMRRC Submission 039752-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R1720 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 22477303-22663284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22585492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 139 (D139V)
Ref Sequence ENSEMBL: ENSMUSP00000112793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097655] [ENSMUST00000120223]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000097655
AA Change: D139V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095260
Gene: ENSMUSG00000045215
AA Change: D139V

DomainStartEndE-ValueType
low complexity region 98 112 N/A INTRINSIC
Pfam:ASXH 173 305 5.6e-50 PFAM
low complexity region 391 404 N/A INTRINSIC
low complexity region 667 686 N/A INTRINSIC
low complexity region 939 954 N/A INTRINSIC
low complexity region 978 988 N/A INTRINSIC
low complexity region 1002 1023 N/A INTRINSIC
low complexity region 1160 1168 N/A INTRINSIC
low complexity region 1424 1436 N/A INTRINSIC
low complexity region 1681 1691 N/A INTRINSIC
SCOP:d1dnpa2 1946 1995 6e-3 SMART
low complexity region 2035 2050 N/A INTRINSIC
Pfam:PHD_3 2139 2202 9.8e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120223
AA Change: D139V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112793
Gene: ENSMUSG00000045215
AA Change: D139V

DomainStartEndE-ValueType
low complexity region 98 112 N/A INTRINSIC
Pfam:ASXH 179 304 1.3e-36 PFAM
low complexity region 391 404 N/A INTRINSIC
low complexity region 667 686 N/A INTRINSIC
low complexity region 939 954 N/A INTRINSIC
low complexity region 978 988 N/A INTRINSIC
low complexity region 1002 1023 N/A INTRINSIC
low complexity region 1160 1168 N/A INTRINSIC
low complexity region 1424 1436 N/A INTRINSIC
low complexity region 1681 1691 N/A INTRINSIC
SCOP:d1dnpa2 1946 1995 6e-3 SMART
low complexity region 2035 2050 N/A INTRINSIC
Pfam:PHD_3 2138 2202 1.9e-24 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A G 12: 84,122,655 (GRCm39) D413G probably benign Het
Actr5 G T 2: 158,478,057 (GRCm39) V476F possibly damaging Het
Adhfe1 G A 1: 9,637,125 (GRCm39) D426N probably benign Het
Adra1a T C 14: 66,875,727 (GRCm39) L234P probably damaging Het
Akap9 G T 5: 4,022,791 (GRCm39) V1207L possibly damaging Het
Anapc2 A G 2: 25,164,724 (GRCm39) D36G probably benign Het
Apol8 A G 15: 77,633,566 (GRCm39) S337P possibly damaging Het
Atp13a4 A T 16: 29,227,746 (GRCm39) V1037E probably damaging Het
Baat A T 4: 49,490,231 (GRCm39) F284L probably benign Het
Bltp3b T C 10: 89,618,448 (GRCm39) V141A probably damaging Het
C1qtnf6 A T 15: 78,411,640 (GRCm39) F40Y probably damaging Het
Caskin2 G A 11: 115,693,608 (GRCm39) H508Y probably damaging Het
Cass4 A T 2: 172,269,654 (GRCm39) I579F probably damaging Het
Cdk15 A G 1: 59,328,917 (GRCm39) Y277C probably damaging Het
Cit G A 5: 116,105,956 (GRCm39) D947N probably damaging Het
Clint1 T A 11: 45,778,237 (GRCm39) I126K probably damaging Het
Col6a4 C T 9: 105,903,671 (GRCm39) G1640E probably damaging Het
Ddx10 T C 9: 53,149,371 (GRCm39) K119E probably damaging Het
Dennd1a G A 2: 37,690,209 (GRCm39) Q964* probably null Het
Dnhd1 T C 7: 105,343,035 (GRCm39) F1460L probably benign Het
Edc3 T C 9: 57,655,462 (GRCm39) probably null Het
Edn1 A G 13: 42,458,826 (GRCm39) E163G probably benign Het
Efl1 A T 7: 82,332,929 (GRCm39) D317V possibly damaging Het
Elapor2 T G 5: 9,478,407 (GRCm39) C424G probably damaging Het
F2 A T 2: 91,459,175 (GRCm39) Y430* probably null Het
Faap100 C T 11: 120,265,407 (GRCm39) V490M probably damaging Het
Fuz G T 7: 44,546,415 (GRCm39) G104W probably damaging Het
Greb1l C A 18: 10,553,848 (GRCm39) H1616Q probably benign Het
Grm1 G T 10: 10,622,538 (GRCm39) probably null Het
Gucy2d G T 7: 98,126,437 (GRCm39) A1098S probably benign Het
H1f0 T A 15: 78,913,195 (GRCm39) S92T possibly damaging Het
Hbb-bt T A 7: 103,463,083 (GRCm39) probably benign Het
Heg1 G A 16: 33,527,549 (GRCm39) A170T probably benign Het
Hspa4l A T 3: 40,736,049 (GRCm39) K578* probably null Het
Ikbke A G 1: 131,186,947 (GRCm39) S582P possibly damaging Het
Itga6 T A 2: 71,650,510 (GRCm39) F185L probably damaging Het
Itgal T A 7: 126,906,099 (GRCm39) D396E probably benign Het
Kif5b T C 18: 6,213,427 (GRCm39) H687R probably benign Het
Kmt2c T C 5: 25,504,182 (GRCm39) N3709D probably benign Het
Lipf A T 19: 33,943,066 (GRCm39) K125* probably null Het
Lrif1 A T 3: 106,640,452 (GRCm39) E512D probably damaging Het
Matn2 T A 15: 34,345,420 (GRCm39) Y142* probably null Het
Med13l A G 5: 118,880,060 (GRCm39) T1051A probably damaging Het
Mpp3 T A 11: 101,916,582 (GRCm39) M1L possibly damaging Het
Mro C T 18: 74,009,806 (GRCm39) S159L probably benign Het
Myh15 T A 16: 48,913,145 (GRCm39) D367E probably damaging Het
Myo1g T C 11: 6,462,490 (GRCm39) Q547R probably benign Het
Neb T C 2: 52,097,733 (GRCm39) I902M probably benign Het
Nsd1 G A 13: 55,394,711 (GRCm39) D771N probably damaging Het
Or10x4 A G 1: 174,219,486 (GRCm39) I284V probably benign Het
Or14a256 T C 7: 86,265,664 (GRCm39) N63S probably damaging Het
Or2a20 T C 6: 43,194,494 (GRCm39) S216P probably damaging Het
Or4e5 A C 14: 52,728,051 (GRCm39) Y40* probably null Het
Or8b48 C T 9: 38,492,585 (GRCm39) T4I probably benign Het
Penk A G 4: 4,134,240 (GRCm39) Y136H probably damaging Het
Prdm6 C T 18: 53,673,272 (GRCm39) S144L probably benign Het
Ptprq T A 10: 107,522,155 (GRCm39) I599F probably damaging Het
Racgap1 A T 15: 99,526,650 (GRCm39) C304* probably null Het
Rbp3 T C 14: 33,678,866 (GRCm39) V938A probably benign Het
Rpp30 A G 19: 36,071,827 (GRCm39) K132E probably damaging Het
Rxfp2 A T 5: 149,966,564 (GRCm39) R101* probably null Het
Ryr1 A T 7: 28,801,295 (GRCm39) V823E probably damaging Het
S100pbp A T 4: 129,075,886 (GRCm39) D146E probably damaging Het
Sdr9c7 T A 10: 127,738,127 (GRCm39) V135E probably damaging Het
Serpinb12 A G 1: 106,874,344 (GRCm39) D23G probably damaging Het
Serpinf1 T A 11: 75,304,807 (GRCm39) T185S probably null Het
Slc23a1 A C 18: 35,758,904 (GRCm39) C96G possibly damaging Het
Slc5a4a C T 10: 76,025,103 (GRCm39) probably null Het
Spmap1 A G 11: 97,662,435 (GRCm39) F146L probably damaging Het
Suco A T 1: 161,661,623 (GRCm39) L936Q probably damaging Het
Tmem144 T C 3: 79,732,606 (GRCm39) Y224C probably damaging Het
Tpm4 T A 8: 72,898,598 (GRCm39) probably null Het
Ttn T C 2: 76,560,414 (GRCm39) E29329G probably damaging Het
Txn1 T C 4: 57,943,922 (GRCm39) I101V probably benign Het
Ube2o A T 11: 116,435,433 (GRCm39) C452S probably benign Het
Uxs1 A T 1: 43,804,081 (GRCm39) I278N probably damaging Het
Vps54 T C 11: 21,256,519 (GRCm39) F663L probably damaging Het
Wdfy3 CG C 5: 102,074,391 (GRCm39) probably null Het
Zc3h11a A G 1: 133,549,439 (GRCm39) S741P probably damaging Het
Zdbf2 G A 1: 63,342,436 (GRCm39) V272I possibly damaging Het
Zdhhc24 A G 19: 4,928,979 (GRCm39) N68S probably damaging Het
Znfx1 A T 2: 166,885,986 (GRCm39) L858* probably null Het
Other mutations in Asxl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Asxl3 APN 18 22,658,280 (GRCm39) missense probably benign 0.41
IGL00510:Asxl3 APN 18 22,656,622 (GRCm39) missense probably damaging 1.00
IGL00864:Asxl3 APN 18 22,655,503 (GRCm39) missense probably benign 0.06
IGL01074:Asxl3 APN 18 22,655,902 (GRCm39) missense probably damaging 1.00
IGL01305:Asxl3 APN 18 22,649,503 (GRCm39) missense probably benign 0.06
IGL01313:Asxl3 APN 18 22,650,516 (GRCm39) missense probably benign 0.41
IGL01349:Asxl3 APN 18 22,657,294 (GRCm39) missense probably benign 0.28
IGL01529:Asxl3 APN 18 22,650,712 (GRCm39) missense probably damaging 1.00
IGL01574:Asxl3 APN 18 22,656,621 (GRCm39) missense probably benign 0.06
IGL01583:Asxl3 APN 18 22,649,654 (GRCm39) missense probably benign 0.01
IGL01619:Asxl3 APN 18 22,656,385 (GRCm39) missense probably damaging 1.00
IGL01720:Asxl3 APN 18 22,658,382 (GRCm39) missense probably damaging 1.00
IGL01816:Asxl3 APN 18 22,655,545 (GRCm39) missense probably benign 0.10
IGL01828:Asxl3 APN 18 22,658,615 (GRCm39) utr 3 prime probably benign
IGL01903:Asxl3 APN 18 22,567,633 (GRCm39) missense probably benign 0.00
IGL01906:Asxl3 APN 18 22,655,338 (GRCm39) missense probably benign 0.01
IGL01962:Asxl3 APN 18 22,655,502 (GRCm39) missense probably benign 0.00
IGL01991:Asxl3 APN 18 22,649,219 (GRCm39) missense probably damaging 1.00
IGL02064:Asxl3 APN 18 22,657,401 (GRCm39) missense possibly damaging 0.59
IGL02187:Asxl3 APN 18 22,658,035 (GRCm39) missense probably damaging 0.99
IGL02219:Asxl3 APN 18 22,586,683 (GRCm39) missense possibly damaging 0.81
IGL02309:Asxl3 APN 18 22,655,510 (GRCm39) missense probably benign 0.01
IGL02478:Asxl3 APN 18 22,656,070 (GRCm39) missense possibly damaging 0.77
IGL02506:Asxl3 APN 18 22,585,456 (GRCm39) missense probably benign 0.19
IGL02660:Asxl3 APN 18 22,657,402 (GRCm39) missense probably damaging 0.98
IGL02828:Asxl3 APN 18 22,657,718 (GRCm39) missense possibly damaging 0.87
IGL02863:Asxl3 APN 18 22,656,541 (GRCm39) missense probably benign 0.01
IGL03001:Asxl3 APN 18 22,650,455 (GRCm39) missense probably damaging 1.00
IGL03143:Asxl3 APN 18 22,656,031 (GRCm39) missense probably benign 0.43
ANU22:Asxl3 UTSW 18 22,649,503 (GRCm39) missense probably benign 0.06
BB001:Asxl3 UTSW 18 22,658,602 (GRCm39) missense probably damaging 0.98
BB011:Asxl3 UTSW 18 22,658,602 (GRCm39) missense probably damaging 0.98
R0145:Asxl3 UTSW 18 22,586,662 (GRCm39) missense probably damaging 1.00
R0201:Asxl3 UTSW 18 22,656,211 (GRCm39) missense probably benign
R0207:Asxl3 UTSW 18 22,544,553 (GRCm39) splice site probably benign
R0230:Asxl3 UTSW 18 22,585,383 (GRCm39) splice site probably benign
R0242:Asxl3 UTSW 18 22,649,738 (GRCm39) missense possibly damaging 0.94
R0242:Asxl3 UTSW 18 22,649,738 (GRCm39) missense possibly damaging 0.94
R0344:Asxl3 UTSW 18 22,650,668 (GRCm39) missense probably benign 0.00
R0519:Asxl3 UTSW 18 22,656,577 (GRCm39) missense possibly damaging 0.85
R0520:Asxl3 UTSW 18 22,656,043 (GRCm39) missense probably damaging 0.96
R0548:Asxl3 UTSW 18 22,654,849 (GRCm39) splice site probably benign
R0626:Asxl3 UTSW 18 22,655,937 (GRCm39) missense probably benign 0.02
R0711:Asxl3 UTSW 18 22,657,508 (GRCm39) missense probably benign 0.01
R0744:Asxl3 UTSW 18 22,649,097 (GRCm39) missense probably damaging 1.00
R0833:Asxl3 UTSW 18 22,649,097 (GRCm39) missense probably damaging 1.00
R1035:Asxl3 UTSW 18 22,658,106 (GRCm39) missense probably damaging 1.00
R1170:Asxl3 UTSW 18 22,657,564 (GRCm39) missense probably benign 0.00
R1372:Asxl3 UTSW 18 22,543,066 (GRCm39) missense probably benign 0.00
R1440:Asxl3 UTSW 18 22,658,281 (GRCm39) missense probably benign 0.13
R1463:Asxl3 UTSW 18 22,649,810 (GRCm39) missense possibly damaging 0.94
R1471:Asxl3 UTSW 18 22,649,411 (GRCm39) missense probably damaging 1.00
R1618:Asxl3 UTSW 18 22,650,044 (GRCm39) missense probably damaging 1.00
R1819:Asxl3 UTSW 18 22,655,433 (GRCm39) missense probably damaging 1.00
R1824:Asxl3 UTSW 18 22,655,125 (GRCm39) missense probably damaging 1.00
R1851:Asxl3 UTSW 18 22,650,796 (GRCm39) missense probably damaging 0.97
R1989:Asxl3 UTSW 18 22,585,420 (GRCm39) missense probably damaging 1.00
R2041:Asxl3 UTSW 18 22,656,508 (GRCm39) missense probably benign 0.02
R2174:Asxl3 UTSW 18 22,586,701 (GRCm39) missense possibly damaging 0.76
R2175:Asxl3 UTSW 18 22,649,652 (GRCm39) missense probably benign
R2443:Asxl3 UTSW 18 22,544,596 (GRCm39) missense probably benign 0.12
R2907:Asxl3 UTSW 18 22,650,330 (GRCm39) missense possibly damaging 0.56
R4246:Asxl3 UTSW 18 22,658,557 (GRCm39) missense probably damaging 1.00
R4254:Asxl3 UTSW 18 22,657,423 (GRCm39) missense possibly damaging 0.58
R4441:Asxl3 UTSW 18 22,657,290 (GRCm39) missense probably damaging 0.97
R4660:Asxl3 UTSW 18 22,649,534 (GRCm39) missense probably benign 0.00
R4661:Asxl3 UTSW 18 22,649,534 (GRCm39) missense probably benign 0.00
R4674:Asxl3 UTSW 18 22,650,795 (GRCm39) missense probably damaging 1.00
R4749:Asxl3 UTSW 18 22,649,826 (GRCm39) missense probably damaging 0.99
R4817:Asxl3 UTSW 18 22,658,511 (GRCm39) missense probably damaging 0.97
R4935:Asxl3 UTSW 18 22,656,369 (GRCm39) missense probably benign 0.06
R5062:Asxl3 UTSW 18 22,655,775 (GRCm39) missense possibly damaging 0.92
R5064:Asxl3 UTSW 18 22,649,076 (GRCm39) missense probably benign 0.00
R5065:Asxl3 UTSW 18 22,658,356 (GRCm39) missense possibly damaging 0.94
R5066:Asxl3 UTSW 18 22,658,356 (GRCm39) missense possibly damaging 0.94
R5067:Asxl3 UTSW 18 22,658,356 (GRCm39) missense possibly damaging 0.94
R5133:Asxl3 UTSW 18 22,649,765 (GRCm39) missense probably damaging 1.00
R5174:Asxl3 UTSW 18 22,656,172 (GRCm39) missense probably benign 0.45
R5183:Asxl3 UTSW 18 22,658,356 (GRCm39) missense possibly damaging 0.94
R5294:Asxl3 UTSW 18 22,649,496 (GRCm39) missense possibly damaging 0.77
R5416:Asxl3 UTSW 18 22,657,551 (GRCm39) missense probably damaging 1.00
R5587:Asxl3 UTSW 18 22,658,304 (GRCm39) missense probably benign 0.28
R5873:Asxl3 UTSW 18 22,649,142 (GRCm39) missense probably benign 0.04
R6240:Asxl3 UTSW 18 22,598,565 (GRCm39) missense probably damaging 1.00
R6242:Asxl3 UTSW 18 22,655,433 (GRCm39) missense probably damaging 1.00
R6316:Asxl3 UTSW 18 22,655,839 (GRCm39) missense probably damaging 1.00
R6348:Asxl3 UTSW 18 22,650,330 (GRCm39) missense possibly damaging 0.56
R6518:Asxl3 UTSW 18 22,649,397 (GRCm39) missense probably damaging 0.96
R6605:Asxl3 UTSW 18 22,650,134 (GRCm39) nonsense probably null
R6704:Asxl3 UTSW 18 22,650,362 (GRCm39) missense probably benign 0.00
R6706:Asxl3 UTSW 18 22,586,666 (GRCm39) missense probably damaging 1.00
R6786:Asxl3 UTSW 18 22,658,497 (GRCm39) missense probably damaging 1.00
R6799:Asxl3 UTSW 18 22,598,457 (GRCm39) nonsense probably null
R6811:Asxl3 UTSW 18 22,655,968 (GRCm39) missense possibly damaging 0.87
R6817:Asxl3 UTSW 18 22,656,637 (GRCm39) missense probably benign 0.00
R6830:Asxl3 UTSW 18 22,658,445 (GRCm39) missense probably benign 0.45
R6957:Asxl3 UTSW 18 22,655,148 (GRCm39) missense probably damaging 1.00
R7015:Asxl3 UTSW 18 22,656,978 (GRCm39) missense probably benign 0.00
R7058:Asxl3 UTSW 18 22,650,731 (GRCm39) missense probably damaging 1.00
R7135:Asxl3 UTSW 18 22,650,759 (GRCm39) missense probably damaging 1.00
R7135:Asxl3 UTSW 18 22,650,758 (GRCm39) nonsense probably null
R7231:Asxl3 UTSW 18 22,650,597 (GRCm39) missense probably damaging 1.00
R7231:Asxl3 UTSW 18 22,544,556 (GRCm39) critical splice acceptor site probably null
R7431:Asxl3 UTSW 18 22,650,010 (GRCm39) missense probably damaging 1.00
R7851:Asxl3 UTSW 18 22,650,279 (GRCm39) missense possibly damaging 0.62
R7871:Asxl3 UTSW 18 22,657,281 (GRCm39) missense not run
R7880:Asxl3 UTSW 18 22,655,208 (GRCm39) missense possibly damaging 0.90
R7924:Asxl3 UTSW 18 22,658,602 (GRCm39) missense probably damaging 0.98
R8061:Asxl3 UTSW 18 22,657,300 (GRCm39) missense possibly damaging 0.62
R8115:Asxl3 UTSW 18 22,650,642 (GRCm39) missense probably damaging 0.99
R8174:Asxl3 UTSW 18 22,650,800 (GRCm39) missense probably benign 0.02
R8303:Asxl3 UTSW 18 22,657,473 (GRCm39) missense probably benign
R8360:Asxl3 UTSW 18 22,649,174 (GRCm39) missense probably benign
R8547:Asxl3 UTSW 18 22,655,829 (GRCm39) missense probably benign 0.04
R8699:Asxl3 UTSW 18 22,567,664 (GRCm39) missense probably benign 0.02
R8774:Asxl3 UTSW 18 22,657,101 (GRCm39) missense probably damaging 0.99
R8774-TAIL:Asxl3 UTSW 18 22,657,101 (GRCm39) missense probably damaging 0.99
R8867:Asxl3 UTSW 18 22,649,547 (GRCm39) missense possibly damaging 0.87
R8915:Asxl3 UTSW 18 22,657,763 (GRCm39) missense probably benign 0.00
R8954:Asxl3 UTSW 18 22,650,807 (GRCm39) missense probably damaging 1.00
R9031:Asxl3 UTSW 18 22,657,401 (GRCm39) missense probably damaging 0.96
R9047:Asxl3 UTSW 18 22,585,471 (GRCm39) missense probably damaging 1.00
R9047:Asxl3 UTSW 18 22,585,465 (GRCm39) missense probably damaging 1.00
R9135:Asxl3 UTSW 18 22,657,481 (GRCm39) missense possibly damaging 0.89
R9135:Asxl3 UTSW 18 22,649,670 (GRCm39) missense probably damaging 0.99
R9210:Asxl3 UTSW 18 22,655,389 (GRCm39) missense probably benign 0.15
R9212:Asxl3 UTSW 18 22,655,389 (GRCm39) missense probably benign 0.15
R9285:Asxl3 UTSW 18 22,654,989 (GRCm39) missense probably damaging 1.00
R9572:Asxl3 UTSW 18 22,649,112 (GRCm39) missense probably benign 0.25
R9707:Asxl3 UTSW 18 22,656,304 (GRCm39) missense probably benign 0.01
R9768:Asxl3 UTSW 18 22,650,101 (GRCm39) missense probably benign 0.00
R9784:Asxl3 UTSW 18 22,650,311 (GRCm39) missense probably benign
Z1088:Asxl3 UTSW 18 22,649,829 (GRCm39) missense probably benign 0.00
Z1176:Asxl3 UTSW 18 22,655,277 (GRCm39) missense probably damaging 1.00
Z1177:Asxl3 UTSW 18 22,656,648 (GRCm39) missense probably damaging 1.00
Z1177:Asxl3 UTSW 18 22,649,396 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTTAAACCCCTTTGCCAAAGCTC -3'
(R):5'- CCAGCATGTGGTCCAGAACTCAAG -3'

Sequencing Primer
(F):5'- GTGGATCATGTAATTCAATCACCAG -3'
(R):5'- atcaccagcaccagcac -3'
Posted On 2014-05-14