Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01689:Asxl2'

104057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asxl2

Ensembl Gene

ENSMUSG00000037486

Gene Name

ASXL transcriptional regulator 2

Synonyms

4930556B16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL01689

Quality Score

Status

Chromosome

Chromosomal Location

3476857-3556852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3546425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 403 (Q403L)

Ref Sequence

ENSEMBL: ENSMUSP00000106846 (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
AA Change: Q403L

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: Q403L

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
AA Change: Q403L

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: Q403L

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

probably benign
Transcript: ENSMUST00000138740

SMART Domains

Protein: ENSMUSP00000133639
Gene: ENSMUSG00000037486

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

noncoding transcript
Transcript: ENSMUST00000152196

Predicted Effect

probably benign
Transcript: ENSMUST00000153102
AA Change: Q403L

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: Q403L

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: ENSMUST00000219208

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	A	G	1: 58,284,320 (GRCm39)		probably benign	Het
Arhgap10	A	G	8: 78,137,763 (GRCm39)		probably benign	Het
Armc9	T	C	1: 86,202,140 (GRCm39)	V766A	probably benign	Het
Cd244a	G	A	1: 171,410,462 (GRCm39)		probably benign	Het
Cdc34b	A	G	11: 94,633,345 (GRCm39)	K182E	probably benign	Het
Csnk1d	A	T	11: 120,862,393 (GRCm39)	F295L	probably benign	Het
Gm11541	A	G	11: 94,595,020 (GRCm39)	V16A	unknown	Het
Kdr	T	C	5: 76,097,500 (GRCm39)	D1252G	probably benign	Het
Kif14	A	G	1: 136,447,380 (GRCm39)	D1395G	probably damaging	Het
Lars1	T	A	18: 42,350,014 (GRCm39)	Q930L	probably benign	Het
Lypd5	A	G	7: 24,052,054 (GRCm39)		probably benign	Het
Or2w1b	G	A	13: 21,300,243 (GRCm39)	C127Y	probably damaging	Het
Paics	T	C	5: 77,109,138 (GRCm39)		probably null	Het
Pcnt	A	G	10: 76,247,487 (GRCm39)	V1015A	probably damaging	Het
Thada	C	T	17: 84,754,116 (GRCm39)	S285N	possibly damaging	Het
Tlr1	T	C	5: 65,083,122 (GRCm39)	D485G	probably damaging	Het
Vmn2r66	T	C	7: 84,657,033 (GRCm39)	N124S	probably damaging	Het
Zfyve26	T	C	12: 79,330,827 (GRCm39)	D464G	possibly 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
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
R7354:Asxl2	UTSW	12	3,505,637 (GRCm39)	intron	probably benign
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

Posted On

2014-01-21