Incidental Mutation 'R0207:Asxl3'
ID 33434
Institutional Source Beutler Lab
Gene Symbol Asxl3
Ensembl Gene ENSMUSG00000045215
Gene Name ASXL transcriptional regulator 3
Synonyms D430002O22Rik, C230079D11Rik, LOC381127, D930044O18Rik
MMRRC Submission 038460-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R0207 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 22477303-22663284 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 22544553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097655] [ENSMUST00000120223]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000097655
SMART Domains Protein: ENSMUSP00000095260
Gene: ENSMUSG00000045215

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 benign
Transcript: ENSMUST00000120223
SMART Domains Protein: ENSMUSP00000112793
Gene: ENSMUSG00000045215

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.5%
Validation Efficiency 95% (76/80)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,086,039 (GRCm39) F488S probably damaging Het
Acap3 C T 4: 155,983,881 (GRCm39) R116W probably damaging Het
Adamts10 C A 17: 33,764,364 (GRCm39) P663T possibly damaging Het
Akap12 G A 10: 4,303,333 (GRCm39) G48S probably damaging Het
Ankrd7 T A 6: 18,870,030 (GRCm39) M261K probably benign Het
Ankzf1 C A 1: 75,174,948 (GRCm39) D599E possibly damaging Het
Aox1 T C 1: 58,144,173 (GRCm39) I1278T possibly damaging Het
Apcdd1 T C 18: 63,083,150 (GRCm39) Y327H probably benign Het
Birc6 C A 17: 74,969,827 (GRCm39) probably benign Het
Btaf1 T A 19: 36,987,048 (GRCm39) L1714* probably null Het
Cacng6 T A 7: 3,473,520 (GRCm39) probably benign Het
Cdc20b A G 13: 113,215,146 (GRCm39) D238G probably damaging Het
Celf5 T A 10: 81,306,532 (GRCm39) R113W probably null Het
Cfap251 T C 5: 123,421,510 (GRCm39) V182A probably damaging Het
Cfap70 C A 14: 20,462,415 (GRCm39) E659D probably damaging Het
Clspn T A 4: 126,484,391 (GRCm39) M1183K possibly damaging Het
Dpy19l1 G A 9: 24,365,187 (GRCm39) R275C probably damaging Het
Dst C T 1: 34,226,016 (GRCm39) S1721L probably benign Het
Faap100 T C 11: 120,265,191 (GRCm39) T562A probably damaging Het
Fam168b T C 1: 34,858,769 (GRCm39) M133V probably damaging Het
Farp2 T C 1: 93,496,809 (GRCm39) I172T probably damaging Het
Fer T G 17: 64,203,273 (GRCm39) S68A probably damaging Het
Fmo5 A G 3: 97,552,997 (GRCm39) E315G probably damaging Het
Gpr89 A T 3: 96,778,796 (GRCm39) F426I probably damaging Het
Hinfp T C 9: 44,207,624 (GRCm39) I461V possibly damaging Het
Hsd11b1 A T 1: 192,922,556 (GRCm39) V167D probably damaging Het
Htt A G 5: 35,054,252 (GRCm39) K2574E probably benign Het
I830077J02Rik A G 3: 105,833,821 (GRCm39) S112P probably benign Het
Igf2bp3 T A 6: 49,082,551 (GRCm39) M344L probably benign Het
Itch A T 2: 155,044,177 (GRCm39) Q494L probably benign Het
Itga9 T C 9: 118,598,321 (GRCm39) probably benign Het
Jaml T A 9: 45,005,065 (GRCm39) D152E probably benign Het
Kif22 A C 7: 126,641,572 (GRCm39) M1R probably null Het
Kifap3 T C 1: 163,710,955 (GRCm39) Y663H probably benign Het
Letm2 T A 8: 26,068,786 (GRCm39) N472I probably damaging Het
Mthfr T G 4: 148,136,681 (GRCm39) V446G probably damaging Het
Myh11 T C 16: 14,029,124 (GRCm39) E1206G possibly damaging Het
Myo6 G A 9: 80,195,338 (GRCm39) V903I probably damaging Het
Myo9b C T 8: 71,807,869 (GRCm39) probably benign Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Nsd3 A G 8: 26,173,273 (GRCm39) N859S probably benign Het
Nucb2 C A 7: 116,135,245 (GRCm39) A384E probably damaging Het
Ogdhl C A 14: 32,063,994 (GRCm39) probably null Het
Or10al3 C A 17: 38,011,949 (GRCm39) C129* probably null Het
Or1e22 A T 11: 73,377,401 (GRCm39) L83Q probably benign Het
Or1i2 T C 10: 78,447,705 (GRCm39) T257A probably benign Het
Or4a74 G A 2: 89,440,207 (GRCm39) L80F probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Parp10 C T 15: 76,126,833 (GRCm39) S145N probably benign Het
Pigh A G 12: 79,130,483 (GRCm39) probably benign Het
Pigo A G 4: 43,023,824 (GRCm39) probably benign Het
Pkp4 T A 2: 59,135,832 (GRCm39) V199D possibly damaging Het
Polr1e C A 4: 45,025,143 (GRCm39) probably null Het
Ppfia3 C A 7: 44,997,958 (GRCm39) R723L probably damaging Het
Prex1 C A 2: 166,427,818 (GRCm39) A945S possibly damaging Het
Prrt3 A T 6: 113,472,801 (GRCm39) V457E probably damaging Het
Rab39 A G 9: 53,617,271 (GRCm39) F49L possibly damaging Het
Rrs1 C A 1: 9,615,987 (GRCm39) probably null Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Serpinb3c T C 1: 107,204,722 (GRCm39) D8G probably benign Het
Slc17a6 A G 7: 51,295,928 (GRCm39) probably benign Het
Slc24a4 T A 12: 102,195,210 (GRCm39) probably null Het
Smc1b C T 15: 85,007,960 (GRCm39) M272I probably benign Het
Smc6 T C 12: 11,333,179 (GRCm39) probably benign Het
Tcf20 T C 15: 82,739,286 (GRCm39) T722A probably benign Het
Tesmin A T 19: 3,454,088 (GRCm39) M141L probably benign Het
Tmprss5 T A 9: 49,024,460 (GRCm39) H274Q possibly damaging Het
Tns1 C T 1: 73,976,477 (GRCm39) probably null Het
Tpr T C 1: 150,293,178 (GRCm39) S868P possibly damaging Het
Trank1 C T 9: 111,195,321 (GRCm39) T1115I probably damaging Het
Trmt44 A T 5: 35,730,261 (GRCm39) I203K possibly damaging Het
Ulk2 A T 11: 61,668,611 (GRCm39) V1037E probably benign Het
Usp43 A G 11: 67,767,325 (GRCm39) Y682H probably damaging Het
Vipr2 A T 12: 116,106,502 (GRCm39) Q366L probably damaging Het
Vmn1r185 C A 7: 26,311,014 (GRCm39) V164L possibly damaging Het
Vmn2r120 C T 17: 57,832,052 (GRCm39) V246I probably benign Het
Wiz C T 17: 32,576,007 (GRCm39) G790R probably damaging Het
Wnk1 A T 6: 119,929,694 (GRCm39) S1016R probably damaging Het
Zc3hav1 A G 6: 38,288,109 (GRCm39) L909S probably benign Het
Zfp236 T A 18: 82,658,352 (GRCm39) I637F probably damaging Het
Zfp788 G A 7: 41,299,020 (GRCm39) G532D probably damaging Het
Zranb1 T C 7: 132,552,114 (GRCm39) I255T probably damaging 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
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
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'- CACCTAGAGACATTTACCACAGTGACG -3'
(R):5'- AGTATACAGATTCTGGTGAGCCCCAAG -3'

Sequencing Primer
(F):5'- CCACAGTGACGGTGGTTTTTC -3'
(R):5'- CTGGTGAGCCCCAAGAAAATTATTC -3'
Posted On 2013-05-09