Mutagenetix > Incidental Mutation

Incidental Mutation 'R7297:Asxl1'

566717

Institutional Source

Beutler Lab

Gene Symbol

Asxl1

Ensembl Gene

ENSMUSG00000042548

Gene Name

ASXL transcriptional regulator 1

Synonyms

MMRRC Submission

045401-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153187750-153245927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153239355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 382 (V382A)

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: V382A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000105413
Gene: ENSMUSG00000042548
AA Change: V382A

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: V381A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Abca6	C	T	11: 110,073,852 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,901 (GRCm39)	I358M	possibly damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Arap3	G	A	18: 38,106,616 (GRCm39)	A1409V	possibly damaging	Het
Arhgap22	C	T	14: 32,993,890 (GRCm39)	R68*	probably null	Het
Arhgef4	A	T	1: 34,846,273 (GRCm39)	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,462 (GRCm39)	T472A	probably damaging	Het
Ascl1	A	T	10: 87,328,326 (GRCm39)	S209T	probably damaging	Het
Atp11a	T	C	8: 12,856,774 (GRCm39)		probably null	Het
Calu	C	T	6: 29,356,554 (GRCm39)	R27*	probably null	Het
Cdh20	A	G	1: 104,898,598 (GRCm39)	T442A	probably benign	Het
Chrm3	T	A	13: 9,927,869 (GRCm39)	Q389L	probably benign	Het
Cntnap1	A	G	11: 101,079,460 (GRCm39)	T1233A	probably benign	Het
Cwc15	G	A	9: 14,421,525 (GRCm39)	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dennd3	C	T	15: 73,429,459 (GRCm39)	T914I	probably damaging	Het
Dlx3	C	A	11: 95,011,276 (GRCm39)	Y43*	probably null	Het
Dnah17	A	T	11: 117,946,556 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,994,182 (GRCm39)	F1081S	probably damaging	Het
Dpp10	G	A	1: 123,281,157 (GRCm39)	Q631*	probably null	Het
Dsel	T	A	1: 111,789,506 (GRCm39)	D343V	probably damaging	Het
Efcab12	T	C	6: 115,787,997 (GRCm39)	D655G	possibly damaging	Het
Epha8	T	A	4: 136,673,224 (GRCm39)	I187L	probably damaging	Het
Exosc10	A	G	4: 148,664,834 (GRCm39)	K781E	probably damaging	Het
Exosc5	T	C	7: 25,365,751 (GRCm39)	L200P	probably benign	Het
Faiml	T	C	9: 99,111,666 (GRCm39)	E131G	probably damaging	Het
Gm5145	G	A	17: 20,790,993 (GRCm39)	V124I	probably benign	Het
Grm7	T	C	6: 110,622,974 (GRCm39)	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,356,427 (GRCm39)	D35G	probably damaging	Het
Heatr1	C	T	13: 12,435,941 (GRCm39)	Q1160*	probably null	Het
Herc2	T	A	7: 55,786,406 (GRCm39)	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,224,165 (GRCm39)	I88V	probably damaging	Het
Hspa14	A	C	2: 3,499,179 (GRCm39)	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,738,662 (GRCm39)	E156A	possibly damaging	Het
Krt87	T	C	15: 101,387,528 (GRCm39)	D170G	probably benign	Het
Mas1	T	C	17: 13,060,745 (GRCm39)	Y226C	probably damaging	Het
Micall1	T	C	15: 79,005,097 (GRCm39)	F190L	unknown	Het
Msi2	A	T	11: 88,370,864 (GRCm39)	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,465,768 (GRCm39)	D27G	probably benign	Het
Nlrp9b	A	G	7: 19,783,438 (GRCm39)	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,092,896 (GRCm39)	D579G	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or8d1	G	A	9: 38,767,245 (GRCm39)	D296N	probably damaging	Het
Or8h6	A	T	2: 86,703,980 (GRCm39)	V29E	probably damaging	Het
Parp4	C	T	14: 56,885,138 (GRCm39)	P1406S	not run	Het
Pkib	A	T	10: 57,612,422 (GRCm39)	Q101L	possibly damaging	Het
Plat	C	T	8: 23,265,713 (GRCm39)	T252I	probably benign	Het
Ppm1d	A	T	11: 85,236,821 (GRCm39)	E533D	probably damaging	Het
Psd3	T	C	8: 68,573,686 (GRCm39)	K165R	probably damaging	Het
Psg29	T	A	7: 16,944,616 (GRCm39)	Y375*	probably null	Het
Pus7	A	T	5: 23,946,908 (GRCm39)	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,385,722 (GRCm39)	M181K	probably benign	Het
Rell1	A	T	5: 64,093,418 (GRCm39)	N112K	possibly damaging	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,673,048 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,400,131 (GRCm39)	T1184M	unknown	Het
Slc27a2	T	A	2: 126,420,866 (GRCm39)	D452E	probably damaging	Het
Slc44a4	T	A	17: 35,146,888 (GRCm39)	I489N	probably damaging	Het
Slfn14	T	A	11: 83,169,821 (GRCm39)	K608*	probably null	Het
Snx15	T	A	19: 6,170,537 (GRCm39)	I301F	probably damaging	Het
Sost	C	T	11: 101,854,929 (GRCm39)	G127R	probably damaging	Het
Stt3b	A	G	9: 115,106,025 (GRCm39)	I150T	probably damaging	Het
Susd2	T	C	10: 75,478,402 (GRCm39)	D58G	probably benign	Het
Tex46	T	G	4: 136,340,212 (GRCm39)	V99G	probably damaging	Het
Tgfbi	T	A	13: 56,779,926 (GRCm39)	F492I	possibly damaging	Het
Tmem132c	G	A	5: 127,437,281 (GRCm39)	A257T	probably benign	Het
Trim2	A	T	3: 84,117,540 (GRCm39)	I51K	probably damaging	Het
Tsn	A	T	1: 118,228,591 (GRCm39)	Y210*	probably null	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r5	A	T	6: 56,963,204 (GRCm39)	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,293,835 (GRCm39)	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,227,119 (GRCm39)	N240D	probably benign	Het
Wbp1l	A	G	19: 46,642,839 (GRCm39)	D264G	possibly damaging	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
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
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'- ATGGAACTGACTGCCGCTTG -3'
(R):5'- CAGCACTTGCATCTTTAGCAAC -3'

Sequencing Primer
(F):5'- CCGCTTGACAGTGAAGCTATTG -3'
(R):5'- TGCATCTTTAGCAACCCCTG -3'

Posted On

2019-06-26