Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01325:Asxl2'

74231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asxl2

Ensembl Gene

ENSMUSG00000037486

Gene Name

additional sex combs like 2, transcriptional regulator

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

3426857-3506852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3427172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 6 (R6L)

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

possibly damaging
Transcript: ENSMUST00000092003
AA Change: R6L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: R6L

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

noncoding transcript
Transcript: ENSMUST00000095903

SMART Domains

Protein: ENSMUSP00000093591
Gene: ENSMUSG00000071456

Domain	Start	End	E-Value	Type
transmembrane domain	51	68	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111215
AA Change: R6L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: R6L

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

noncoding transcript
Transcript: ENSMUST00000140046

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144247
AA Change: R6L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: R6L

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 damaging
Transcript: ENSMUST00000153102
AA Change: R6L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: R6L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168012

SMART Domains

Protein: ENSMUSP00000130978
Gene: ENSMUSG00000071456

Domain	Start	End	E-Value	Type
transmembrane domain	51	68	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179637

SMART Domains

Protein: ENSMUSP00000136462
Gene: ENSMUSG00000071456

Domain	Start	End	E-Value	Type
transmembrane domain	51	68	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180149

SMART Domains

Protein: ENSMUSP00000137142
Gene: ENSMUSG00000071456

Domain	Start	End	E-Value	Type
transmembrane domain	51	68	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 60,853,533	T127A	probably damaging	Het
Acrv1	T	A	9: 36,698,514	M227K	probably benign	Het
Adam22	T	C	5: 8,127,333	N592S	probably benign	Het
Adamts15	T	A	9: 30,921,688	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,064,102	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,232,540	F179L	probably benign	Het
Btaf1	T	A	19: 37,004,649		probably benign	Het
Ccdc136	T	C	6: 29,412,950	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229	S268G	probably benign	Het
Crtc3	C	T	7: 80,677,368	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,122,699	A421E	probably benign	Het
Fhod1	A	T	8: 105,331,649	M825K	probably benign	Het
Gjb2	T	C	14: 57,100,221	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,884		noncoding transcript	Het
Herpud2	A	G	9: 25,113,911	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,134,006	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,381,208	F578L	probably benign	Het
Kdm7a	T	G	6: 39,158,309		probably benign	Het
Krt76	A	T	15: 101,884,888	S572T	unknown	Het
Lrrcc1	T	C	3: 14,536,541		probably null	Het
March9	A	C	10: 127,057,590	V183G	probably damaging	Het
Mkl2	T	C	16: 13,401,224	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251	D123E	probably benign	Het
Nhlh2	T	G	3: 102,013,026	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,436,351		probably benign	Het
Npas1	C	T	7: 16,463,322	G206D	probably benign	Het
Olfr651	T	C	7: 104,553,689	F257L	probably damaging	Het
Olfr994	C	A	2: 85,430,295	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,309,623	V662E	probably damaging	Het
Plxna3	G	A	X: 74,335,794	G758S	probably damaging	Het
Prdm15	T	A	16: 97,806,517	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,432,446		probably benign	Het
Ranbp2	T	A	10: 58,476,298	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,298,529	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,988,618	G270R	probably damaging	Het
Rcl1	A	G	19: 29,121,262		probably null	Het
Rpl23a-ps1	T	C	1: 45,981,633		noncoding transcript	Het
Serpinb7	T	G	1: 107,435,380	H91Q	probably damaging	Het
Shd	C	T	17: 55,972,839	P111S	possibly damaging	Het
Slc35e1	G	T	8: 72,483,758		probably benign	Het
Srgap3	C	T	6: 112,775,686	R279H	probably damaging	Het
Sstr4	G	A	2: 148,395,552	E28K	probably benign	Het
Stip1	T	C	19: 7,021,096		probably benign	Het
Syne2	A	G	12: 75,926,514	E1097G	probably benign	Het
Tbcd	T	A	11: 121,540,993	V489E	probably damaging	Het
Tnks2	T	A	19: 36,871,633	S516R	probably benign	Het
Trmt44	T	A	5: 35,568,803	R343S	possibly damaging	Het
Trps1	A	G	15: 50,846,814	S47P	probably benign	Het
Ubr3	A	C	2: 69,917,097	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,574,961	Q48*	probably null	Het
Vat1	T	C	11: 101,465,715	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,194,247	T636A	possibly damaging	Het
Zfp423	A	T	8: 87,781,611		probably null	Het
Zfp667	C	A	7: 6,290,546	T15N	probably damaging	Het

Other mutations in Asxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Asxl2	APN	12	3474560	missense	probably damaging	1.00
IGL01301:Asxl2	APN	12	3501425	missense	probably damaging	1.00
IGL01689:Asxl2	APN	12	3496425	missense	probably benign	0.28
IGL01871:Asxl2	APN	12	3502112	missense	probably benign	0.38
IGL02164:Asxl2	APN	12	3502079	missense	probably benign	0.00
IGL02609:Asxl2	APN	12	3500018	missense	probably damaging	1.00
IGL03191:Asxl2	APN	12	3500094	missense	probably damaging	1.00
Blinder	UTSW	12	3442529	missense	probably damaging	0.99
Fob	UTSW	12	3484531	missense	probably damaging	1.00
peaky	UTSW	12	3476040	missense	possibly damaging	0.91
ANU18:Asxl2	UTSW	12	3501425	missense	probably damaging	1.00
R0092:Asxl2	UTSW	12	3496313	missense	probably benign	0.00
R0118:Asxl2	UTSW	12	3496923	missense	probably damaging	1.00
R0277:Asxl2	UTSW	12	3442487	missense	probably damaging	1.00
R0323:Asxl2	UTSW	12	3442487	missense	probably damaging	1.00
R0584:Asxl2	UTSW	12	3496632	missense	probably damaging	0.96
R0885:Asxl2	UTSW	12	3501458	missense	probably damaging	1.00
R1344:Asxl2	UTSW	12	3493790	missense	probably damaging	1.00
R1456:Asxl2	UTSW	12	3501872	missense	possibly damaging	0.70
R1829:Asxl2	UTSW	12	3457125	missense	probably damaging	1.00
R1909:Asxl2	UTSW	12	3474577	missense	probably damaging	1.00
R1990:Asxl2	UTSW	12	3484558	nonsense	probably null
R2074:Asxl2	UTSW	12	3493779	missense	probably damaging	1.00
R2883:Asxl2	UTSW	12	3501830	missense	probably benign	0.03
R2912:Asxl2	UTSW	12	3474517	missense	probably benign	0.06
R4446:Asxl2	UTSW	12	3501774	missense	possibly damaging	0.54
R4662:Asxl2	UTSW	12	3427193	missense	probably damaging	0.99
R4726:Asxl2	UTSW	12	3501872	missense	possibly damaging	0.70
R5034:Asxl2	UTSW	12	3502193	missense	probably damaging	0.98
R5287:Asxl2	UTSW	12	3496893	missense	probably benign	0.02
R5377:Asxl2	UTSW	12	3474618	splice site	probably null
R5611:Asxl2	UTSW	12	3484598	missense	probably damaging	1.00
R5708:Asxl2	UTSW	12	3500603	missense	possibly damaging	0.82
R5945:Asxl2	UTSW	12	3500439	missense	possibly damaging	0.82
R6154:Asxl2	UTSW	12	3496593	missense	possibly damaging	0.60
R6288:Asxl2	UTSW	12	3476040	missense	possibly damaging	0.91
R6405:Asxl2	UTSW	12	3493758	missense	probably damaging	0.99
R6938:Asxl2	UTSW	12	3476149	missense	probably damaging	0.98
R7146:Asxl2	UTSW	12	3457066	missense	probably damaging	1.00
R7354:Asxl2	UTSW	12	3455637	intron	probably benign
R7396:Asxl2	UTSW	12	3442529	missense	probably damaging	0.99
R7438:Asxl2	UTSW	12	3427108	start gained	probably benign
R7980:Asxl2	UTSW	12	3496630	missense	probably damaging	0.99
R7991:Asxl2	UTSW	12	3484531	missense	probably damaging	1.00
R8063:Asxl2	UTSW	12	3500768	missense	probably benign	0.01
R8156:Asxl2	UTSW	12	3496760	missense	probably benign	0.09
R8396:Asxl2	UTSW	12	3502220	missense	probably benign
R8773:Asxl2	UTSW	12	3457200	missense	probably damaging	0.97
R8792:Asxl2	UTSW	12	3496536	missense	probably benign	0.00
R8827:Asxl2	UTSW	12	3500501	missense	probably benign
R9221:Asxl2	UTSW	12	3502310	missense	probably damaging	1.00
R9584:Asxl2	UTSW	12	3500667	missense	possibly damaging	0.86
R9796:Asxl2	UTSW	12	3496508	missense	probably benign	0.00
Z1177:Asxl2	UTSW	12	3474589	missense	probably damaging	0.96

Posted On

2013-10-07