Mutagenetix > Incidental Mutation

Incidental Mutation 'R7354:Asxl2'

580624

Institutional Source

Beutler Lab

Gene Symbol

Asxl2

Ensembl Gene

ENSMUSG00000037486

Gene Name

ASXL transcriptional regulator 2

Synonyms

4930556B16Rik

MMRRC Submission

045440-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R7354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3476857-3556852 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 3505637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092003] [ENSMUST00000111215] [ENSMUST00000144247] [ENSMUST00000153102]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000092003

SMART Domains

Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486

Domain	Start	End	E-Value	Type
Pfam:HARE-HTH	11	83	1.2e-22	PFAM
low complexity region	95	122	N/A	INTRINSIC
low complexity region	126	154	N/A	INTRINSIC
low complexity region	162	185	N/A	INTRINSIC
Pfam:ASXH	204	336	1.2e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111215

SMART Domains

Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486

Domain	Start	End	E-Value	Type
Pfam:HARE-HTH	11	83	3.6e-22	PFAM
low complexity region	95	122	N/A	INTRINSIC
low complexity region	126	154	N/A	INTRINSIC
low complexity region	162	185	N/A	INTRINSIC
Pfam:ASXH	204	336	4.2e-52	PFAM
low complexity region	614	637	N/A	INTRINSIC
low complexity region	640	658	N/A	INTRINSIC
low complexity region	849	870	N/A	INTRINSIC
low complexity region	1115	1124	N/A	INTRINSIC
low complexity region	1236	1251	N/A	INTRINSIC
Pfam:PHD_3	1305	1368	1.1e-29	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133639
Gene: ENSMUSG00000037486
AA Change: W85R

Domain	Start	End	E-Value	Type
Pfam:HARE-HTH	1	54	1.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144247

SMART Domains

Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486

Domain	Start	End	E-Value	Type
Pfam:HARE-HTH	11	83	5.2e-23	PFAM
low complexity region	95	122	N/A	INTRINSIC
low complexity region	126	154	N/A	INTRINSIC
low complexity region	162	185	N/A	INTRINSIC
low complexity region	221	244	N/A	INTRINSIC
Pfam:ASXH	252	384	7e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153102

SMART Domains

Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486

Domain	Start	End	E-Value	Type
Pfam:HARE-HTH	11	83	1.6e-23	PFAM
low complexity region	95	122	N/A	INTRINSIC
low complexity region	126	154	N/A	INTRINSIC
low complexity region	162	185	N/A	INTRINSIC
Pfam:ASXH	211	335	6.9e-38	PFAM
low complexity region	614	637	N/A	INTRINSIC
low complexity region	640	658	N/A	INTRINSIC
low complexity region	849	870	N/A	INTRINSIC
low complexity region	1115	1124	N/A	INTRINSIC
low complexity region	1236	1251	N/A	INTRINSIC
Pfam:PHD_3	1308	1368	7.6e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: This gene encodes a homolog of the Drosophila Asx gene, which interacts with genes involved in axial patterning. Mice with mutations in this gene display abnormal patterning of the axial skeleton, suggesting a similar function in mice as in Drosophila. This gene may also be involved in bone mineral density, specifically osteoclastogenesis. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a severe hypomorphic allele display prenatal and postnatal lethality, premature death, vertebral transformations and splitting, decreased body weight, enlarged hearts, and age-related cardiac interstitial fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	T	A	4: 126,311,099 (GRCm39)	Q38L	possibly damaging	Het
Apon	T	A	10: 128,090,607 (GRCm39)	I95N	probably benign	Het
Arid1a	G	T	4: 133,421,258 (GRCm39)	P464Q	unknown	Het
Arid4b	A	G	13: 14,339,455 (GRCm39)	D503G	probably benign	Het
Atp2a1	A	T	7: 126,048,028 (GRCm39)	V594D	probably damaging	Het
Begain	A	G	12: 108,999,215 (GRCm39)	F519L	possibly damaging	Het
Bora	A	G	14: 99,284,794 (GRCm39)	T15A	probably damaging	Het
Btbd7	A	T	12: 102,804,464 (GRCm39)	M192K	probably benign	Het
Ccdc125	T	G	13: 100,814,382 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,858,458 (GRCm39)	C1042Y	possibly damaging	Het
Cdcp3	G	T	7: 130,873,762 (GRCm39)	C1696F	unknown	Het
Cfap74	G	T	4: 155,549,804 (GRCm39)	V146L	unknown	Het
Crisp1	G	A	17: 40,630,071 (GRCm39)		probably benign	Het
Ctbp1	A	T	5: 33,407,732 (GRCm39)	H292Q	possibly damaging	Het
Defb5	T	A	8: 19,300,750 (GRCm39)	M34K	probably benign	Het
Dnajc27	A	G	12: 4,146,249 (GRCm39)	I93V	probably benign	Het
Dqx1	T	A	6: 83,037,957 (GRCm39)	Y448*	probably null	Het
Dynap	A	T	18: 70,374,371 (GRCm39)	C52S	possibly damaging	Het
Ehd4	C	A	2: 119,932,613 (GRCm39)	R271L	probably damaging	Het
Ercc2	T	G	7: 19,127,579 (GRCm39)	I619S	possibly damaging	Het
Etf1	A	G	18: 35,039,040 (GRCm39)	I409T	probably damaging	Het
Fam117a	A	G	11: 95,271,529 (GRCm39)	D367G	probably damaging	Het
Fancd2	A	G	6: 113,572,907 (GRCm39)	D1447G	unknown	Het
Fbxw9	T	C	8: 85,788,825 (GRCm39)	S192P	probably damaging	Het
Frzb	A	T	2: 80,277,153 (GRCm39)	L11Q	probably damaging	Het
Gm14496	T	C	2: 181,642,479 (GRCm39)	S717P	probably damaging	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gm4353	C	T	7: 115,683,146 (GRCm39)	R145Q	probably benign	Het
Gpr12	A	T	5: 146,520,772 (GRCm39)	V50D	probably damaging	Het
Hes1	T	C	16: 29,884,746 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,682,196 (GRCm39)	C451*	probably null	Het
Iars1	T	C	13: 49,857,796 (GRCm39)	V347A	probably benign	Het
Igfn1	A	G	1: 135,903,770 (GRCm39)	S323P	possibly damaging	Het
Itga6	G	A	2: 71,650,574 (GRCm39)	A207T	probably damaging	Het
Lgi4	T	A	7: 30,760,047 (GRCm39)	L81H	probably damaging	Het
Lrp1	T	C	10: 127,407,277 (GRCm39)	E1888G	probably damaging	Het
Man2a1	C	T	17: 65,059,539 (GRCm39)	T1142M	probably damaging	Het
Mdfic2	T	A	6: 98,215,242 (GRCm39)	D127V	probably damaging	Het
Mgam	A	T	6: 40,721,732 (GRCm39)	Y350F	probably damaging	Het
Miga1	T	C	3: 151,996,137 (GRCm39)	D351G	probably damaging	Het
Mro	A	G	18: 74,006,385 (GRCm39)	T111A	probably benign	Het
Mtrr	A	T	13: 68,714,326 (GRCm39)	V471E	probably damaging	Het
Myh3	C	A	11: 66,987,708 (GRCm39)	L1394I	probably damaging	Het
Myocd	A	G	11: 65,078,319 (GRCm39)	V492A	probably benign	Het
Nbeal2	A	G	9: 110,458,247 (GRCm39)	F2115S	probably damaging	Het
Nlrp1b	A	T	11: 71,072,376 (GRCm39)	M489K	possibly damaging	Het
Or12j5	A	C	7: 140,084,099 (GRCm39)	I91R	probably damaging	Het
Or14j7	A	G	17: 38,235,284 (GRCm39)	I276V	probably benign	Het
Or1e1c	A	T	11: 73,266,201 (GRCm39)	I212F	probably benign	Het
Or4c122	T	C	2: 89,079,031 (GRCm39)		probably null	Het
Or4k44	C	T	2: 111,367,909 (GRCm39)	A242T	possibly damaging	Het
Orc2	A	G	1: 58,508,906 (GRCm39)	S462P	possibly damaging	Het
Pcdh9	T	C	14: 94,125,706 (GRCm39)	T155A	probably benign	Het
Pcdhb16	G	A	18: 37,611,177 (GRCm39)	V46I	possibly damaging	Het
Pcdhb22	A	G	18: 37,653,311 (GRCm39)	D336G	probably damaging	Het
Pde4dip	T	A	3: 97,626,646 (GRCm39)	R1297S	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Plxnb2	A	G	15: 89,049,928 (GRCm39)	M531T	possibly damaging	Het
Poc5	T	C	13: 96,531,033 (GRCm39)	V77A	probably benign	Het
Recql5	G	A	11: 115,819,027 (GRCm39)	R180C	probably damaging	Het
Rho	C	A	6: 115,912,464 (GRCm39)	Y268*	probably null	Het
Riok1	A	T	13: 38,231,288 (GRCm39)	H182L	probably benign	Het
Rnf207	T	C	4: 152,398,548 (GRCm39)	D273G	probably damaging	Het
Serpinb11	A	G	1: 107,305,263 (GRCm39)	Y213C	probably benign	Het
Slc16a10	T	C	10: 39,952,951 (GRCm39)	Y181C	probably damaging	Het
Slc22a15	G	A	3: 101,771,897 (GRCm39)	H401Y	probably benign	Het
Slc5a5	C	A	8: 71,342,247 (GRCm39)	R268L	probably damaging	Het
Slc9a8	T	C	2: 167,316,051 (GRCm39)	F576S	possibly damaging	Het
Slx4	T	C	16: 3,804,963 (GRCm39)	E617G	probably benign	Het
Spata31d1e	A	T	13: 59,889,648 (GRCm39)	L724*	probably null	Het
Top1	T	C	2: 160,546,878 (GRCm39)	I386T	probably damaging	Het
Tor1aip1	G	T	1: 155,911,859 (GRCm39)	D41E	probably damaging	Het
Tsc22d4	G	A	5: 137,766,371 (GRCm39)	R479Q	probably benign	Het
Unc79	C	T	12: 103,108,961 (GRCm39)	T2191I	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,043 (GRCm39)	D771E	probably damaging	Het
Vmn2r82	A	C	10: 79,192,464 (GRCm39)	M14L	probably benign	Het
Zc3h7a	C	T	16: 10,966,378 (GRCm39)	S583N	probably damaging	Het
Zfp518b	G	A	5: 38,840,122 (GRCm39)		probably benign	Het
Zswim4	A	G	8: 84,955,478 (GRCm39)	W314R	probably damaging	Het

Other mutations in Asxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Asxl2	APN	12	3,524,560 (GRCm39)	missense	probably damaging	1.00
IGL01301:Asxl2	APN	12	3,551,425 (GRCm39)	missense	probably damaging	1.00
IGL01325:Asxl2	APN	12	3,477,172 (GRCm39)	missense	probably damaging	0.98
IGL01689:Asxl2	APN	12	3,546,425 (GRCm39)	missense	probably benign	0.28
IGL01871:Asxl2	APN	12	3,552,112 (GRCm39)	missense	probably benign	0.38
IGL02164:Asxl2	APN	12	3,552,079 (GRCm39)	missense	probably benign	0.00
IGL02609:Asxl2	APN	12	3,550,018 (GRCm39)	missense	probably damaging	1.00
IGL03191:Asxl2	APN	12	3,550,094 (GRCm39)	missense	probably damaging	1.00
Blinder	UTSW	12	3,492,529 (GRCm39)	missense	probably damaging	0.99
Fob	UTSW	12	3,534,531 (GRCm39)	missense	probably damaging	1.00
peaky	UTSW	12	3,526,040 (GRCm39)	missense	possibly damaging	0.91
ANU18:Asxl2	UTSW	12	3,551,425 (GRCm39)	missense	probably damaging	1.00
R0092:Asxl2	UTSW	12	3,546,313 (GRCm39)	missense	probably benign	0.00
R0118:Asxl2	UTSW	12	3,546,923 (GRCm39)	missense	probably damaging	1.00
R0277:Asxl2	UTSW	12	3,492,487 (GRCm39)	missense	probably damaging	1.00
R0323:Asxl2	UTSW	12	3,492,487 (GRCm39)	missense	probably damaging	1.00
R0584:Asxl2	UTSW	12	3,546,632 (GRCm39)	missense	probably damaging	0.96
R0885:Asxl2	UTSW	12	3,551,458 (GRCm39)	missense	probably damaging	1.00
R1344:Asxl2	UTSW	12	3,543,790 (GRCm39)	missense	probably damaging	1.00
R1456:Asxl2	UTSW	12	3,551,872 (GRCm39)	missense	possibly damaging	0.70
R1829:Asxl2	UTSW	12	3,507,125 (GRCm39)	missense	probably damaging	1.00
R1909:Asxl2	UTSW	12	3,524,577 (GRCm39)	missense	probably damaging	1.00
R1990:Asxl2	UTSW	12	3,534,558 (GRCm39)	nonsense	probably null
R2074:Asxl2	UTSW	12	3,543,779 (GRCm39)	missense	probably damaging	1.00
R2883:Asxl2	UTSW	12	3,551,830 (GRCm39)	missense	probably benign	0.03
R2912:Asxl2	UTSW	12	3,524,517 (GRCm39)	missense	probably benign	0.06
R4446:Asxl2	UTSW	12	3,551,774 (GRCm39)	missense	possibly damaging	0.54
R4662:Asxl2	UTSW	12	3,477,193 (GRCm39)	missense	probably damaging	0.99
R4726:Asxl2	UTSW	12	3,551,872 (GRCm39)	missense	possibly damaging	0.70
R5034:Asxl2	UTSW	12	3,552,193 (GRCm39)	missense	probably damaging	0.98
R5287:Asxl2	UTSW	12	3,546,893 (GRCm39)	missense	probably benign	0.02
R5377:Asxl2	UTSW	12	3,524,618 (GRCm39)	splice site	probably null
R5611:Asxl2	UTSW	12	3,534,598 (GRCm39)	missense	probably damaging	1.00
R5708:Asxl2	UTSW	12	3,550,603 (GRCm39)	missense	possibly damaging	0.82
R5945:Asxl2	UTSW	12	3,550,439 (GRCm39)	missense	possibly damaging	0.82
R6154:Asxl2	UTSW	12	3,546,593 (GRCm39)	missense	possibly damaging	0.60
R6288:Asxl2	UTSW	12	3,526,040 (GRCm39)	missense	possibly damaging	0.91
R6405:Asxl2	UTSW	12	3,543,758 (GRCm39)	missense	probably damaging	0.99
R6938:Asxl2	UTSW	12	3,526,149 (GRCm39)	missense	probably damaging	0.98
R7146:Asxl2	UTSW	12	3,507,066 (GRCm39)	missense	probably damaging	1.00
R7396:Asxl2	UTSW	12	3,492,529 (GRCm39)	missense	probably damaging	0.99
R7438:Asxl2	UTSW	12	3,477,108 (GRCm39)	start gained	probably benign
R7980:Asxl2	UTSW	12	3,546,630 (GRCm39)	missense	probably damaging	0.99
R7991:Asxl2	UTSW	12	3,534,531 (GRCm39)	missense	probably damaging	1.00
R8063:Asxl2	UTSW	12	3,550,768 (GRCm39)	missense	probably benign	0.01
R8156:Asxl2	UTSW	12	3,546,760 (GRCm39)	missense	probably benign	0.09
R8396:Asxl2	UTSW	12	3,552,220 (GRCm39)	missense	probably benign
R8773:Asxl2	UTSW	12	3,507,200 (GRCm39)	missense	probably damaging	0.97
R8792:Asxl2	UTSW	12	3,546,536 (GRCm39)	missense	probably benign	0.00
R8827:Asxl2	UTSW	12	3,550,501 (GRCm39)	missense	probably benign
R9221:Asxl2	UTSW	12	3,552,310 (GRCm39)	missense	probably damaging	1.00
R9584:Asxl2	UTSW	12	3,550,667 (GRCm39)	missense	possibly damaging	0.86
R9796:Asxl2	UTSW	12	3,546,508 (GRCm39)	missense	probably benign	0.00
Z1177:Asxl2	UTSW	12	3,524,589 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCTAAGATTTGGGGCATGAGC -3'
(R):5'- CCAGGTAGCTGCATATGAAAAGC -3'

Sequencing Primer
(F):5'- CATGAGCCATTGATCCCAGAGG -3'
(R):5'- GAGAGCTCAATATTAGCTACTGTGTG -3'

Posted On

2019-10-14