Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:Asxl3'

520933

Institutional Source

Beutler Lab

Gene Symbol

Asxl3

Ensembl Gene

ENSMUSG00000045215

Gene Name

ASXL transcriptional regulator 3

Synonyms

D430002O22Rik, C230079D11Rik, LOC381127, D930044O18Rik

MMRRC Submission

044645-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22477303-22663284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22649397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 462 (V462E)

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: V462E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095260
Gene: ENSMUSG00000045215
AA Change: V462E

Domain	Start	End	E-Value	Type
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: V462E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112793
Gene: ENSMUSG00000045215
AA Change: V462E

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,123,608 (GRCm39)	D88G	probably damaging	Het
Abcc12	A	G	8: 87,235,718 (GRCm39)			Het
Angptl6	T	C	9: 20,786,656 (GRCm39)	H330R	probably damaging	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
C1ra	T	A	6: 124,498,534 (GRCm39)		probably null	Het
C2	T	A	17: 35,083,094 (GRCm39)	I426F	probably damaging	Het
C4b	A	T	17: 34,953,179 (GRCm39)	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,898,283 (GRCm39)	M134K	probably benign	Het
Cenpn	A	G	8: 117,663,904 (GRCm39)	D145G	possibly damaging	Het
Ckap2	A	T	8: 22,663,319 (GRCm39)	I492K	probably benign	Het
Cog2	G	A	8: 125,253,842 (GRCm39)	W67*	probably null	Het
Col7a1	T	C	9: 108,784,595 (GRCm39)	F172L	unknown	Het
Dcaf1	T	C	9: 106,712,788 (GRCm39)	I112T	probably damaging	Het
Ddx4	T	C	13: 112,741,081 (GRCm39)	I518V	probably benign	Het
Dnah10	T	C	5: 124,835,419 (GRCm39)	L908P	probably damaging	Het
Dsg3	T	C	18: 20,666,479 (GRCm39)	Y563H	probably benign	Het
Gm16686	A	C	4: 88,673,725 (GRCm39)		probably benign	Het
Gpr139	A	T	7: 118,743,734 (GRCm39)	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Ice1	A	T	13: 70,754,428 (GRCm39)	F553I	possibly damaging	Het
Igkv6-29	T	A	6: 70,115,497 (GRCm39)	Q99L	probably damaging	Het
Lipt1	A	G	1: 37,914,856 (GRCm39)	N304S	probably benign	Het
Lmo1	A	C	7: 108,742,783 (GRCm39)	L39R	probably damaging	Het
Mcc	T	A	18: 44,794,878 (GRCm39)		probably benign	Het
Mindy3	T	C	2: 12,386,940 (GRCm39)	T74A	probably damaging	Het
Obi1	A	T	14: 104,716,501 (GRCm39)	L624H	probably damaging	Het
Or11a4	G	T	17: 37,536,159 (GRCm39)	A48S	probably benign	Het
Or13j1	A	G	4: 43,706,334 (GRCm39)	V78A	probably benign	Het
Or4e5	T	C	14: 52,728,077 (GRCm39)	I115V	probably damaging	Het
Ormdl1	T	C	1: 53,348,116 (GRCm39)	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,127,475 (GRCm39)	*1064K	probably null	Het
Pias1	A	G	9: 62,859,142 (GRCm39)	L113P	probably damaging	Het
Piezo2	A	T	18: 63,239,342 (GRCm39)	I514N	probably damaging	Het
Prkd1	T	C	12: 50,472,278 (GRCm39)	T212A	probably benign	Het
Rsph10b	A	G	5: 143,900,691 (GRCm39)	Y151C	probably damaging	Het
Samhd1	G	A	2: 156,956,217 (GRCm39)	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,922,519 (GRCm39)	T291A	probably damaging	Het
Smim24	A	G	10: 81,229,695 (GRCm39)	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,572,291 (GRCm39)		probably benign	Het
Spata31f1e	A	G	4: 42,791,750 (GRCm39)	I794T	probably benign	Het
Speer3	T	G	5: 13,845,462 (GRCm39)	I165S	possibly damaging	Het
Timm23	A	G	14: 31,923,594 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,467,427 (GRCm39)	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,632,608 (GRCm39)	C85*	probably null	Het
Try5	A	G	6: 41,291,613 (GRCm39)	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,270,436 (GRCm39)	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,265,281 (GRCm39)	D67E	probably benign	Het
Wars2	A	T	3: 99,124,116 (GRCm39)	M326L	probably benign	Het
Wdr70	A	T	15: 8,108,821 (GRCm39)	S108R	unknown	Het
Zfp677	A	G	17: 21,618,392 (GRCm39)	H483R	probably damaging	Het

Other mutations in Asxl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ATCTGTGATTCAGGAGGAAGTG -3'
(R):5'- TGGCTTTCTAGAGAAGATGGCC -3'

Sequencing Primer
(F):5'- CAGAGGAGGTAGAGACGAGTATC -3'
(R):5'- AAGATGGCCCTTCTCTCAGG -3'

Posted On

2018-06-06