Mutagenetix > Incidental Mutation

Incidental Mutation 'R5973:Asxl1'

471518

Institutional Source

Beutler Lab

Gene Symbol

Asxl1

Ensembl Gene

ENSMUSG00000042548

Gene Name

ASXL transcriptional regulator 1

Synonyms

MMRRC Submission

044156-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153187750-153245927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153243931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1495 (F1495L)

Ref Sequence

ENSEMBL: ENSMUSP00000105413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109790] [ENSMUST00000227428]

AlphaFold

P59598

Predicted Effect

probably damaging
Transcript: ENSMUST00000109790
AA Change: F1495L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105413
Gene: ENSMUSG00000042548
AA Change: F1495L

Domain	Start	End	E-Value	Type
Pfam:HARE-HTH	11	83	1.6e-20	PFAM
low complexity region	199	209	N/A	INTRINSIC
Pfam:ASXH	236	361	5.9e-40	PFAM
low complexity region	411	422	N/A	INTRINSIC
low complexity region	639	667	N/A	INTRINSIC
low complexity region	705	716	N/A	INTRINSIC
low complexity region	848	860	N/A	INTRINSIC
low complexity region	986	1000	N/A	INTRINSIC
Pfam:PHD_3	1446	1512	6.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227428
AA Change: F1494L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Disruption of this gene causes alterations in lymphocyte development in adult mice. Mice homozygous for a different knock-out allele exhibit complete lethality. Mice heterozygous for this allele exhibit eye opacity and abnormal vertebrae morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,364,928 (GRCm39)	I1536N	probably damaging	Het
Actr1b	A	G	1: 36,741,162 (GRCm39)	S140P	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc7	A	T	5: 122,566,366 (GRCm39)	T92S	probably benign	Het
Ash2l	G	A	8: 26,307,642 (GRCm39)	T585M	possibly damaging	Het
Atp5pf	T	C	16: 84,625,328 (GRCm39)		probably null	Het
Bcl2a1c	A	G	9: 114,159,465 (GRCm39)	N81S	probably benign	Het
Bfsp2	A	C	9: 103,309,856 (GRCm39)		probably null	Het
Casq1	A	G	1: 172,047,068 (GRCm39)	Y64H	probably damaging	Het
Ceacam16	A	G	7: 19,590,262 (GRCm39)	V227A	probably damaging	Het
Cers6	T	A	2: 68,898,969 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,686,671 (GRCm39)		probably benign	Het
Clpb	G	A	7: 101,313,204 (GRCm39)	V63I	probably benign	Het
Dnah11	G	T	12: 118,074,687 (GRCm39)	D1388E	probably benign	Het
Dst	T	C	1: 34,195,938 (GRCm39)	L405P	probably damaging	Het
Dstyk	A	G	1: 132,362,149 (GRCm39)	E193G	probably damaging	Het
Dusp2	A	T	2: 127,179,208 (GRCm39)	S188C	probably damaging	Het
Ep400	T	C	5: 110,877,697 (GRCm39)	I810V	unknown	Het
Faim2	C	T	15: 99,419,132 (GRCm39)	G79D	probably benign	Het
Fpgt	A	T	3: 154,793,040 (GRCm39)	I329K	probably damaging	Het
Fut8	A	G	12: 77,411,771 (GRCm39)	T78A	probably benign	Het
Gm15130	A	G	2: 110,965,714 (GRCm39)		probably benign	Het
Gm17087	A	C	17: 8,785,529 (GRCm39)	I58R	probably benign	Het
Grk2	T	C	19: 4,337,925 (GRCm39)	D485G	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hmcn1	A	G	1: 150,439,568 (GRCm39)	S5539P	probably damaging	Het
Hmcn2	G	A	2: 31,310,335 (GRCm39)	V3310M	probably damaging	Het
Impdh1	A	T	6: 29,207,161 (GRCm39)	L61Q	probably damaging	Het
Inhbb	A	T	1: 119,345,806 (GRCm39)	V161D	possibly damaging	Het
Kansl2	C	T	15: 98,427,306 (GRCm39)	V192M	probably damaging	Het
Krt1c	T	C	15: 101,724,747 (GRCm39)	K288E	probably damaging	Het
Lyar	A	G	5: 38,385,290 (GRCm39)	K110R	probably damaging	Het
Lyrm9	C	A	11: 78,726,961 (GRCm39)	H35N	probably damaging	Het
Mab21l1	A	G	3: 55,690,533 (GRCm39)	D40G	probably benign	Het
Maml2	A	C	9: 13,532,915 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,162,401 (GRCm39)	H69R	probably benign	Het
Morc2b	G	T	17: 33,356,446 (GRCm39)	A442E	probably damaging	Het
Moxd2	A	T	6: 40,855,744 (GRCm39)	L615Q	probably damaging	Het
Msh2	G	A	17: 88,016,011 (GRCm39)	G548S	probably damaging	Het
Napg	G	A	18: 63,128,054 (GRCm39)	S279N	possibly damaging	Het
Ncor1	A	T	11: 62,240,136 (GRCm39)		probably null	Het
Nkiras2	G	T	11: 100,516,866 (GRCm39)	R128L	probably damaging	Het
Npy4r	T	C	14: 33,868,664 (GRCm39)	D208G	probably benign	Het
Or10ak11	C	T	4: 118,687,413 (GRCm39)	V75I	probably benign	Het
Or52e2	A	G	7: 102,804,081 (GRCm39)	V291A	possibly damaging	Het
Or8b42	G	T	9: 38,341,627 (GRCm39)	L16F	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,560 (GRCm39)	T184A	probably benign	Het
Plxna4	T	C	6: 32,228,000 (GRCm39)		probably null	Het
Pnldc1	C	T	17: 13,113,260 (GRCm39)	E328K	probably benign	Het
Pon1	T	A	6: 5,185,334 (GRCm39)	L55F	probably damaging	Het
Pramel51	T	C	12: 88,142,683 (GRCm39)	I312V	probably benign	Het
Prkci	G	T	3: 31,092,605 (GRCm39)	D296Y	probably damaging	Het
Prkd1	T	C	12: 50,435,038 (GRCm39)	H563R	probably damaging	Het
Ptpru	T	C	4: 131,546,236 (GRCm39)	N266S	probably benign	Het
Rapgef6	A	T	11: 54,530,609 (GRCm39)	I589F	probably damaging	Het
Rcan3	A	T	4: 135,145,853 (GRCm39)	S127T	probably benign	Het
Sh3tc2	A	G	18: 62,110,975 (GRCm39)	D277G	probably benign	Het
Sipa1l3	G	A	7: 29,098,949 (GRCm39)	A440V	probably benign	Het
Slc13a2	A	C	11: 78,291,358 (GRCm39)	I372S	probably damaging	Het
Slco1a7	T	A	6: 141,700,182 (GRCm39)	T117S	probably benign	Het
Spns1	A	T	7: 125,969,495 (GRCm39)	I528N	probably damaging	Het
Sult6b2	T	C	6: 142,736,021 (GRCm39)	K191R	probably benign	Het
Swt1	A	G	1: 151,278,700 (GRCm39)		probably null	Het
Tcn2	A	T	11: 3,877,546 (GRCm39)	L34*	probably null	Het
Tmem131l	C	T	3: 83,829,553 (GRCm39)	A1035T	possibly damaging	Het
Trpc4	A	G	3: 54,223,263 (GRCm39)	E733G	probably damaging	Het
Uap1l1	A	T	2: 25,254,642 (GRCm39)	H184Q	possibly damaging	Het
Vil1	T	G	1: 74,455,192 (GRCm39)	V48G	possibly damaging	Het
Vps39	A	T	2: 120,159,186 (GRCm39)	H367Q	probably damaging	Het
Wars2	A	G	3: 99,094,962 (GRCm39)	T86A	probably benign	Het
Wdr90	A	G	17: 26,064,107 (GRCm39)	S1872P	probably damaging	Het
Wdr90	A	G	17: 26,065,381 (GRCm39)	L1625P	probably damaging	Het
Xaf1	A	T	11: 72,194,256 (GRCm39)	M46L	probably damaging	Het
Zfp1005	A	G	2: 150,109,855 (GRCm39)	T182A	unknown	Het

Other mutations in Asxl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Asxl1	APN	2	153,234,860 (GRCm39)	splice site	probably benign
IGL01432:Asxl1	APN	2	153,242,125 (GRCm39)	missense	probably benign	0.38
IGL01543:Asxl1	APN	2	153,243,404 (GRCm39)	missense	probably benign	0.11
IGL02355:Asxl1	APN	2	153,243,706 (GRCm39)	missense	probably benign	0.34
IGL02362:Asxl1	APN	2	153,243,706 (GRCm39)	missense	probably benign	0.34
IGL02645:Asxl1	APN	2	153,234,777 (GRCm39)	missense	possibly damaging	0.94
IGL02696:Asxl1	APN	2	153,242,115 (GRCm39)	nonsense	probably null
IGL03365:Asxl1	APN	2	153,243,674 (GRCm39)	missense	probably damaging	1.00
IGL03372:Asxl1	APN	2	153,242,333 (GRCm39)	missense	probably damaging	0.99
IGL03377:Asxl1	APN	2	153,238,700 (GRCm39)	missense	probably damaging	1.00
astrophel	UTSW	2	153,242,026 (GRCm39)	missense	possibly damaging	0.75
hairbrush	UTSW	2	153,242,644 (GRCm39)	missense	possibly damaging	0.55
R0044:Asxl1	UTSW	2	153,242,129 (GRCm39)	missense	probably benign	0.06
R0044:Asxl1	UTSW	2	153,242,129 (GRCm39)	missense	probably benign	0.06
R0600:Asxl1	UTSW	2	153,241,824 (GRCm39)	missense	probably benign	0.00
R0659:Asxl1	UTSW	2	153,242,644 (GRCm39)	missense	possibly damaging	0.55
R0661:Asxl1	UTSW	2	153,242,644 (GRCm39)	missense	possibly damaging	0.55
R0684:Asxl1	UTSW	2	153,239,442 (GRCm39)	missense	probably damaging	1.00
R1606:Asxl1	UTSW	2	153,242,375 (GRCm39)	missense	probably damaging	0.99
R1747:Asxl1	UTSW	2	153,235,374 (GRCm39)	missense	possibly damaging	0.86
R1796:Asxl1	UTSW	2	153,243,526 (GRCm39)	missense	probably benign	0.31
R1914:Asxl1	UTSW	2	153,243,826 (GRCm39)	missense	probably damaging	1.00
R2099:Asxl1	UTSW	2	153,194,187 (GRCm39)	missense	possibly damaging	0.95
R2373:Asxl1	UTSW	2	153,243,820 (GRCm39)	missense	probably benign	0.13
R2910:Asxl1	UTSW	2	153,242,959 (GRCm39)	missense	probably benign	0.00
R3620:Asxl1	UTSW	2	153,199,075 (GRCm39)	missense	probably damaging	1.00
R3701:Asxl1	UTSW	2	153,241,264 (GRCm39)	missense	probably benign	0.04
R4200:Asxl1	UTSW	2	153,242,026 (GRCm39)	missense	possibly damaging	0.75
R4773:Asxl1	UTSW	2	153,243,905 (GRCm39)	missense	probably damaging	1.00
R4902:Asxl1	UTSW	2	153,241,751 (GRCm39)	missense	probably benign	0.02
R5100:Asxl1	UTSW	2	153,239,851 (GRCm39)	missense	probably damaging	1.00
R5102:Asxl1	UTSW	2	153,242,875 (GRCm39)	missense	probably benign	0.00
R5166:Asxl1	UTSW	2	153,243,041 (GRCm39)	missense	probably damaging	1.00
R5421:Asxl1	UTSW	2	153,241,504 (GRCm39)	missense	probably benign	0.04
R5701:Asxl1	UTSW	2	153,241,409 (GRCm39)	missense	probably damaging	1.00
R5861:Asxl1	UTSW	2	153,241,310 (GRCm39)	missense	probably damaging	0.99
R6384:Asxl1	UTSW	2	153,233,744 (GRCm39)	critical splice donor site	probably null
R7023:Asxl1	UTSW	2	153,242,469 (GRCm39)	missense	probably benign	0.00
R7028:Asxl1	UTSW	2	153,242,027 (GRCm39)	missense	probably benign	0.00
R7176:Asxl1	UTSW	2	153,243,908 (GRCm39)	missense	probably damaging	1.00
R7297:Asxl1	UTSW	2	153,239,355 (GRCm39)	missense	probably benign	0.01
R7378:Asxl1	UTSW	2	153,243,913 (GRCm39)	missense	probably damaging	1.00
R7464:Asxl1	UTSW	2	153,239,705 (GRCm39)	missense	probably benign	0.01
R7678:Asxl1	UTSW	2	153,242,572 (GRCm39)	missense	probably damaging	1.00
R7686:Asxl1	UTSW	2	153,233,534 (GRCm39)	missense	probably damaging	1.00
R7789:Asxl1	UTSW	2	153,241,943 (GRCm39)	missense	probably benign	0.00
R7838:Asxl1	UTSW	2	153,238,733 (GRCm39)	missense	probably damaging	1.00
R7898:Asxl1	UTSW	2	153,241,854 (GRCm39)	missense	possibly damaging	0.65
R8281:Asxl1	UTSW	2	153,241,321 (GRCm39)	missense	probably damaging	1.00
R8354:Asxl1	UTSW	2	153,235,345 (GRCm39)	missense	probably benign	0.40
R8383:Asxl1	UTSW	2	153,235,639 (GRCm39)	missense	probably damaging	1.00
R8995:Asxl1	UTSW	2	153,235,886 (GRCm39)	missense	probably damaging	1.00
R9183:Asxl1	UTSW	2	153,239,840 (GRCm39)	missense	probably damaging	0.99
X0024:Asxl1	UTSW	2	153,243,905 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCCCAAAGGCCTTGCTGG -3'
(R):5'- CAAGTGACAGAGGGCTTCAG -3'

Sequencing Primer
(F):5'- CAAAGGCCTTGCTGGTGGTG -3'
(R):5'- GGGCTTCAGCACTATAAATCTCATGG -3'

Posted On

2017-03-31