Mutagenetix > Incidental Mutation

Incidental Mutation 'R2373:Asxl1'

248196

Institutional Source

Beutler Lab

Gene Symbol

Asxl1

Ensembl Gene

ENSMUSG00000042548

Gene Name

ASXL transcriptional regulator 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153187750-153245927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153243820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1458 (T1458A)

Ref Sequence

ENSEMBL: ENSMUSP00000105413 (fasta)

Gene Model

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

AlphaFold

P59598

Predicted Effect

probably benign
Transcript: ENSMUST00000109790
AA Change: T1458A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105413
Gene: ENSMUSG00000042548
AA Change: T1458A

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 benign
Transcript: ENSMUST00000227428
AA Change: T1457A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9130023H24Rik	A	T	7: 127,836,487 (GRCm39)	D35E	probably benign	Het
9330159F19Rik	A	G	10: 29,101,039 (GRCm39)	N471D	probably benign	Het
Ahctf1	A	T	1: 179,623,361 (GRCm39)	F86I	probably damaging	Het
Alpk1	T	C	3: 127,473,457 (GRCm39)	T849A	probably benign	Het
Arfgef1	A	T	1: 10,244,367 (GRCm39)	D965E	probably damaging	Het
Cdc42bpa	A	T	1: 179,939,349 (GRCm39)	M876L	possibly damaging	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Col12a1	A	T	9: 79,564,095 (GRCm39)	V1710E	probably benign	Het
Corin	G	A	5: 72,496,381 (GRCm39)	S524L	probably damaging	Het
Dennd2c	A	G	3: 103,064,158 (GRCm39)	H658R	probably damaging	Het
Disp3	A	G	4: 148,343,252 (GRCm39)	V553A	probably damaging	Het
Dpm2	T	C	2: 32,462,457 (GRCm39)	F81S	probably benign	Het
Emc2	T	A	15: 43,377,154 (GRCm39)	I239N	probably damaging	Het
Fhip1a	C	T	3: 85,583,404 (GRCm39)	W464*	probably null	Het
Fzd5	C	T	1: 64,774,066 (GRCm39)	G565D	probably damaging	Het
Gpld1	T	C	13: 25,146,839 (GRCm39)	F267S	probably benign	Het
Kif14	C	A	1: 136,407,583 (GRCm39)	A46E	probably damaging	Het
Mta3	G	T	17: 84,091,730 (GRCm39)	E179*	probably null	Het
Ninl	T	G	2: 150,822,037 (GRCm39)	T22P	probably damaging	Het
Pcnx2	T	C	8: 126,480,190 (GRCm39)	N2039S	probably damaging	Het
Rc3h2	A	G	2: 37,269,013 (GRCm39)	S818P	possibly damaging	Het
Scn11a	T	A	9: 119,642,252 (GRCm39)	E162D	probably benign	Het
Slc5a7	A	T	17: 54,584,154 (GRCm39)	W379R	probably damaging	Het
Sptb	C	T	12: 76,667,935 (GRCm39)	V721M	probably damaging	Het
Vmn1r82	T	A	7: 12,038,982 (GRCm39)	V85E	probably damaging	Het
Vmn2r130	T	C	17: 23,280,480 (GRCm39)	I47T	possibly damaging	Het
Vmn2r93	T	A	17: 18,518,665 (GRCm39)	F41L	probably benign	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
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
R5973:Asxl1	UTSW	2	153,243,931 (GRCm39)	missense	probably damaging	0.97
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'- CCAGGGAAAGGGTTCAGTCAAC -3'
(R):5'- ATGTACAATGTTTCCAATGGCC -3'

Sequencing Primer
(F):5'- TTCAGTCAACCCCTGGAGC -3'
(R):5'- TGGCCATAATTTATTATCTCACCAC -3'

Posted On

2014-11-11