Incidental Mutation 'R7431:Asxl3'
ID 576506
Institutional Source Beutler Lab
Gene Symbol Asxl3
Ensembl Gene ENSMUSG00000045215
Gene Name ASXL transcriptional regulator 3
Synonyms D430002O22Rik, C230079D11Rik, LOC381127, D930044O18Rik
MMRRC Submission 045509-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R7431 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 22477303-22663284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 22650010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 666 (D666E)
Ref Sequence ENSEMBL: ENSMUSP00000095260 (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: D666E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095260
Gene: ENSMUSG00000045215
AA Change: D666E

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: D666E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112793
Gene: ENSMUSG00000045215
AA Change: D666E

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (77/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 CA C 11: 110,018,252 (GRCm39) probably null Het
Abcf3 G T 16: 20,377,539 (GRCm39) R510L probably benign Het
Abcg4 T A 9: 44,185,997 (GRCm39) I625F possibly damaging Het
Adam22 A T 5: 8,142,818 (GRCm39) S806T probably damaging Het
Adcy4 T C 14: 56,010,129 (GRCm39) I718V probably benign Het
Adgb A T 10: 10,267,699 (GRCm39) probably null Het
Aldoart1 T A 4: 72,769,678 (GRCm39) K377* probably null Het
Apc2 T A 10: 80,138,017 (GRCm39) V100E possibly damaging Het
Atg4c A T 4: 99,109,632 (GRCm39) I200F possibly damaging Het
Atp1a4 A G 1: 172,078,474 (GRCm39) F255L probably benign Het
Bod1l A C 5: 41,970,463 (GRCm39) probably null Het
Cacna2d4 A T 6: 119,221,237 (GRCm39) T250S probably damaging Het
Ccdc202 A G 14: 96,119,273 (GRCm39) H10R probably benign Het
Ccng1 G A 11: 40,644,745 (GRCm39) R51W possibly damaging Het
Chd6 T C 2: 160,868,248 (GRCm39) E366G possibly damaging Het
Clca4b A T 3: 144,616,894 (GRCm39) S919T probably benign Het
Col5a3 T C 9: 20,682,131 (GRCm39) *1740W probably null Het
Col6a5 A T 9: 105,805,468 (GRCm39) I1146K unknown Het
Cpxm1 T C 2: 130,235,966 (GRCm39) T399A probably benign Het
Cpz T C 5: 35,668,486 (GRCm39) T375A probably benign Het
Cyp2b13 T A 7: 25,760,976 (GRCm39) V11D probably damaging Het
Cyp39a1 A G 17: 43,993,906 (GRCm39) T189A probably benign Het
Desi2 C T 1: 178,084,007 (GRCm39) Q52* probably null Het
Dhx15 A G 5: 52,319,953 (GRCm39) V418A probably damaging Het
Dnah3 T A 7: 119,650,967 (GRCm39) M978L probably damaging Het
Dpagt1 T A 9: 44,237,384 (GRCm39) C17* probably null Het
Dph5 A T 3: 115,686,381 (GRCm39) K52N possibly damaging Het
Dpp4 G T 2: 62,182,582 (GRCm39) N566K probably benign Het
Elavl4 T C 4: 110,083,830 (GRCm39) Y94C probably damaging Het
Fat2 G A 11: 55,199,927 (GRCm39) T1049I probably damaging Het
Fat4 T A 3: 39,063,306 (GRCm39) Y4421N possibly damaging Het
Fcrl2 C A 3: 87,166,233 (GRCm39) A181S probably damaging Het
Garre1 T C 7: 33,984,219 (GRCm39) I135V possibly damaging Het
Glg1 G T 8: 111,887,386 (GRCm39) N456K unknown Het
Gm10228 A G 16: 88,838,101 (GRCm39) S68P unknown Het
Golga4 G A 9: 118,388,799 (GRCm39) E1974K probably damaging Het
Heatr9 G T 11: 83,410,094 (GRCm39) P49Q probably damaging Het
Hmgxb3 A T 18: 61,280,517 (GRCm39) V662D probably damaging Het
Hs3st4 T C 7: 123,582,513 (GRCm39) L37P probably damaging Het
Ifi205 A T 1: 173,855,943 (GRCm39) M29K probably benign Het
Igkv1-35 C T 6: 69,987,988 (GRCm39) V103M probably damaging Het
Klf13 T A 7: 63,541,504 (GRCm39) K208* probably null Het
Klhl36 A G 8: 120,597,121 (GRCm39) N274S probably benign Het
Mosmo T A 7: 120,329,873 (GRCm39) L165I probably benign Het
Mtcl1 G A 17: 66,649,901 (GRCm39) Q1855* probably null Het
Muc16 A G 9: 18,519,289 (GRCm39) V208A Het
Nin T G 12: 70,124,997 (GRCm39) R108S Het
Odad1 T G 7: 45,578,670 (GRCm39) L81R probably damaging Het
Or13c7d T C 4: 43,770,882 (GRCm39) N43S probably damaging Het
Polr1a G A 6: 71,903,643 (GRCm39) V319I probably benign Het
Pramel7 A G 2: 87,320,282 (GRCm39) V337A possibly damaging Het
Prkar2b A T 12: 32,013,150 (GRCm39) probably null Het
R3hdm2 T A 10: 127,294,016 (GRCm39) M170K probably benign Het
Rbm26 A G 14: 105,354,528 (GRCm39) I919T possibly damaging Het
Rimkla A G 4: 119,335,008 (GRCm39) M125T probably benign Het
Sag T A 1: 87,749,059 (GRCm39) F153I possibly damaging Het
Sbf2 G T 7: 109,950,957 (GRCm39) D1163E probably damaging Het
Scgb2b24 T C 7: 33,438,674 (GRCm39) I13V probably benign Het
Scin G A 12: 40,183,921 (GRCm39) H63Y probably damaging Het
Sele A G 1: 163,879,189 (GRCm39) T275A probably damaging Het
Slc22a15 T A 3: 101,805,256 (GRCm39) T144S probably benign Het
Slc8a1 T A 17: 81,749,092 (GRCm39) K650I probably benign Het
Slc9c1 G T 16: 45,413,847 (GRCm39) V992F probably damaging Het
Spag16 A T 1: 69,963,031 (GRCm39) T393S unknown Het
Taf15 G A 11: 83,395,779 (GRCm39) D495N unknown Het
Tas2r144 T A 6: 42,192,908 (GRCm39) I216N probably damaging Het
Tbccd1 G T 16: 22,644,563 (GRCm39) P271Q probably benign Het
Tcf4 C A 18: 69,480,249 (GRCm39) probably null Het
Thap4 A T 1: 93,678,223 (GRCm39) S188T probably benign Het
Trank1 T C 9: 111,191,470 (GRCm39) V493A probably benign Het
Trip11 A G 12: 101,850,278 (GRCm39) V1262A possibly damaging Het
Tspan2 T A 3: 102,657,107 (GRCm39) W35R probably damaging Het
Usp39 G T 6: 72,313,251 (GRCm39) T313N possibly damaging Het
Vmn2r83 T A 10: 79,327,306 (GRCm39) L638Q probably damaging Het
Vps29 T C 5: 122,492,541 (GRCm39) V2A probably benign Het
Wrap53 A G 11: 69,469,313 (GRCm39) F148L possibly damaging Het
Znfx1 T C 2: 166,897,712 (GRCm39) Y404C probably damaging Het
Zrsr2-ps1 A G 11: 22,923,580 (GRCm39) E118G probably benign 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
R1720:Asxl3 UTSW 18 22,585,492 (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
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'- TTCTGAGGTATCCAGCACTGAG -3'
(R):5'- CCTCTTTCTGTGGAGAGTTAGC -3'

Sequencing Primer
(F):5'- TCTGAGGTATCCAGCACTGAGAATAC -3'
(R):5'- AGAGTTAGCTTCTTCAGATCCTG -3'
Posted On 2019-10-07