Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02309:Asxl3'

287721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asxl3

Ensembl Gene

ENSMUSG00000045215

Gene Name

ASXL transcriptional regulator 3

Synonyms

D430002O22Rik, C230079D11Rik, LOC381127, D930044O18Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02309

Quality Score

Status

Chromosome

Chromosomal Location

22477303-22663284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22655510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1173 (H1173Q)

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
AA Change: H1173Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095260
Gene: ENSMUSG00000045215
AA Change: H1173Q

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 benign
Transcript: ENSMUST00000120223
AA Change: H1173Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112793
Gene: ENSMUSG00000045215
AA Change: H1173Q

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,193,125 (GRCm39)	F111S	probably benign	Het
Afg1l	C	A	10: 42,330,374 (GRCm39)	V98F	possibly damaging	Het
Agk	T	A	6: 40,353,210 (GRCm39)	D191E	possibly damaging	Het
Akap5	A	G	12: 76,375,629 (GRCm39)	K354E	possibly damaging	Het
Aplp2	A	T	9: 31,078,979 (GRCm39)	M323K	possibly damaging	Het
Arhgap23	T	C	11: 97,356,827 (GRCm39)		probably benign	Het
Asl	A	G	5: 130,048,622 (GRCm39)	Y30H	probably damaging	Het
Celsr2	C	T	3: 108,303,327 (GRCm39)	R2472H	probably damaging	Het
Clip1	T	A	5: 123,755,763 (GRCm39)	H950L	probably damaging	Het
Cx3cl1	A	T	8: 95,506,660 (GRCm39)	T222S	probably benign	Het
Cyp4a14	T	A	4: 115,348,829 (GRCm39)	N273Y	probably damaging	Het
Ddx52	T	A	11: 83,839,304 (GRCm39)	S214T	probably damaging	Het
Dennd2d	T	A	3: 106,402,284 (GRCm39)	M318K	probably benign	Het
Dock3	A	T	9: 106,790,351 (GRCm39)	D1E	probably damaging	Het
Farp1	C	T	14: 121,480,928 (GRCm39)	T443I	probably benign	Het
Gm2381	C	T	7: 42,472,033 (GRCm39)		probably benign	Het
Gpr87	T	A	3: 59,086,975 (GRCm39)	I178F	possibly damaging	Het
Grin2b	C	T	6: 135,713,470 (GRCm39)	E804K	probably damaging	Het
Gtf2h1	T	C	7: 46,465,812 (GRCm39)	L421P	probably damaging	Het
Haghl	T	G	17: 26,003,638 (GRCm39)	H56P	probably damaging	Het
Heatr3	T	C	8: 88,893,700 (GRCm39)	L489P	probably damaging	Het
Ighv6-6	A	T	12: 114,398,534 (GRCm39)	H77Q	probably benign	Het
Kdm2b	A	G	5: 123,085,883 (GRCm39)	S243P	probably damaging	Het
Lamc3	T	C	2: 31,804,616 (GRCm39)		probably benign	Het
Lgr4	T	C	2: 109,842,880 (GRCm39)		probably benign	Het
Lhx3	T	C	2: 26,091,385 (GRCm39)	Q308R	probably benign	Het
Lonp2	G	A	8: 87,361,491 (GRCm39)	E223K	probably damaging	Het
Lta4h	T	C	10: 93,310,352 (GRCm39)	F407L	probably damaging	Het
Mndal	C	T	1: 173,702,021 (GRCm39)	G94R	probably damaging	Het
Nrxn3	A	G	12: 89,943,175 (GRCm39)	N101S	probably damaging	Het
Or14c41	T	C	7: 86,234,705 (GRCm39)	V74A	possibly damaging	Het
Or51af1	A	T	7: 103,141,206 (GRCm39)	I293K	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Or8b48	A	G	9: 38,492,729 (GRCm39)	N52S	probably damaging	Het
Or8d23	A	G	9: 38,842,348 (GRCm39)	N294D	probably damaging	Het
Pknox1	T	G	17: 31,809,683 (GRCm39)	F96V	probably benign	Het
Psg25	T	G	7: 18,260,349 (GRCm39)	Q183P	probably damaging	Het
Ptgs2	A	G	1: 149,981,307 (GRCm39)	Y530C	probably damaging	Het
Sema3e	T	A	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Shank1	G	A	7: 43,962,266 (GRCm39)	G46R	unknown	Het
Sidt1	T	C	16: 44,075,343 (GRCm39)	I672V	probably benign	Het
Skic3	A	G	13: 76,275,166 (GRCm39)	T238A	possibly damaging	Het
Slco1b2	T	A	6: 141,618,007 (GRCm39)	S486T	probably damaging	Het
Smchd1	T	C	17: 71,750,898 (GRCm39)	H340R	probably benign	Het
Smoc2	C	A	17: 14,595,789 (GRCm39)		probably benign	Het
Snapc1	A	G	12: 74,014,801 (GRCm39)	Y102C	probably damaging	Het
Spo11	A	G	2: 172,821,744 (GRCm39)	R20G	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Tmem229b-ps	T	C	10: 53,351,466 (GRCm39)		noncoding transcript	Het
Trim12c	T	A	7: 103,994,163 (GRCm39)	E230D	possibly damaging	Het
Ttc17	G	T	2: 94,173,006 (GRCm39)	N796K	probably benign	Het
Ttn	A	G	2: 76,709,443 (GRCm39)		probably benign	Het
Ublcp1	A	T	11: 44,349,155 (GRCm39)		probably benign	Het
Usf3	C	T	16: 44,021,026 (GRCm39)	T11M	probably benign	Het
Vmn2r115	T	A	17: 23,564,113 (GRCm39)	M95K	probably benign	Het
Wapl	A	G	14: 34,466,820 (GRCm39)	T1160A	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
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
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

Posted On

2015-04-16