Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02164:Asxl2'

282562

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 #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

3476857-3556852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3552079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1274 (M1274V)

Ref Sequence

ENSEMBL: ENSMUSP00000106846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092003] [ENSMUST00000111215] [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
AA Change: M1274V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: M1274V

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: ENSMUST00000152196

Predicted Effect

probably benign
Transcript: ENSMUST00000153102
AA Change: M1274V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: M1274V

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

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,537,524 (GRCm39)	V187E	probably benign	Het
Abcc12	T	A	8: 87,254,033 (GRCm39)	D917V	probably damaging	Het
Abhd15	A	T	11: 77,406,840 (GRCm39)	E272D	probably benign	Het
Adat3	T	A	10: 80,442,461 (GRCm39)	S100T	probably benign	Het
Adgrg6	T	C	10: 14,399,299 (GRCm39)		probably benign	Het
Alpl	C	T	4: 137,481,290 (GRCm39)	V121M	probably damaging	Het
Ano1	A	T	7: 144,190,918 (GRCm39)	Y388N	possibly damaging	Het
Arrdc4	C	T	7: 68,389,285 (GRCm39)		probably benign	Het
Bmt2	G	T	6: 13,628,878 (GRCm39)	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,725,482 (GRCm39)	L176M	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cd14	T	C	18: 36,858,838 (GRCm39)	R206G	possibly damaging	Het
Cfap65	G	T	1: 74,967,304 (GRCm39)	T215K	possibly damaging	Het
Chd9	T	C	8: 91,659,849 (GRCm39)	S270P	possibly damaging	Het
Cidea	C	T	18: 67,499,581 (GRCm39)	S156L	probably damaging	Het
Col5a3	A	G	9: 20,703,939 (GRCm39)		probably null	Het
Cspg5	T	C	9: 110,080,104 (GRCm39)	V424A	probably damaging	Het
Ctc1	A	G	11: 68,916,922 (GRCm39)	H272R	probably damaging	Het
D5Ertd579e	A	T	5: 36,772,303 (GRCm39)	S697R	probably damaging	Het
Dennd3	T	C	15: 73,416,297 (GRCm39)	S516P	probably benign	Het
Dipk2b	T	A	X: 18,285,192 (GRCm39)	R421*	probably null	Het
Dlgap4	G	A	2: 156,553,059 (GRCm39)	R509H	probably damaging	Het
Dus3l	T	C	17: 57,074,943 (GRCm39)		probably benign	Het
Dync1h1	G	T	12: 110,628,993 (GRCm39)	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 93,248,678 (GRCm39)	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,336,869 (GRCm39)		probably benign	Het
Ephx2	A	G	14: 66,341,169 (GRCm39)		probably benign	Het
Fabp12	T	A	3: 10,311,075 (GRCm39)	Y129F	probably damaging	Het
Fat3	A	G	9: 15,942,720 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,050,354 (GRCm39)		probably null	Het
Gnb1	T	A	4: 155,641,631 (GRCm39)		probably null	Het
Gpr107	C	A	2: 31,068,298 (GRCm39)	Y253*	probably null	Het
Grb10	C	T	11: 11,893,962 (GRCm39)	E320K	probably damaging	Het
Gucy2g	G	T	19: 55,226,455 (GRCm39)	H154N	probably benign	Het
H2bl1	T	C	13: 99,120,715 (GRCm39)	K104E	probably damaging	Het
Hemk1	T	A	9: 107,208,735 (GRCm39)	H154L	probably benign	Het
Hk2	A	T	6: 82,720,920 (GRCm39)		probably null	Het
Htr5a	A	G	5: 28,047,463 (GRCm39)	N6S	probably damaging	Het
Htra3	T	C	5: 35,810,410 (GRCm39)	D424G	probably benign	Het
Ift52	A	G	2: 162,867,384 (GRCm39)		probably null	Het
Igdcc4	A	G	9: 65,032,064 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,366,444 (GRCm39)	K124E	probably benign	Het
Kcnc2	T	A	10: 112,291,590 (GRCm39)	N259K	possibly damaging	Het
Kics2	A	G	10: 121,586,675 (GRCm39)	Y194C	probably damaging	Het
Lmod2	A	T	6: 24,603,909 (GRCm39)	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,399,536 (GRCm39)	E2324G	probably benign	Het
Lss	T	C	10: 76,372,094 (GRCm39)	S150P	probably damaging	Het
Macf1	T	C	4: 123,374,065 (GRCm39)	N1515S	probably benign	Het
Mapk11	T	C	15: 89,029,651 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,314 (GRCm39)	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,767,737 (GRCm39)	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,472,157 (GRCm39)	F396L	probably damaging	Het
Nek2	A	G	1: 191,559,416 (GRCm39)	K307R	probably benign	Het
Or12d2	C	A	17: 37,624,578 (GRCm39)	M232I	probably benign	Het
Osmr	G	A	15: 6,871,529 (GRCm39)	T296I	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pfkp	C	T	13: 6,647,951 (GRCm39)	V542M	probably damaging	Het
Pmpca	C	T	2: 26,285,581 (GRCm39)	S519L	probably benign	Het
Ptgds	A	T	2: 25,359,124 (GRCm39)	Y44N	probably damaging	Het
Raly	T	A	2: 154,701,849 (GRCm39)	Y116*	probably null	Het
Rock2	A	G	12: 17,015,530 (GRCm39)	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,756,242 (GRCm39)	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,254,083 (GRCm39)	D673G	probably benign	Het
Spire2	A	T	8: 124,059,703 (GRCm39)	D67V	probably damaging	Het
St7l	T	C	3: 104,829,597 (GRCm39)		probably null	Het
Stau2	A	G	1: 16,416,052 (GRCm39)	L469P	probably damaging	Het
Tefm	A	G	11: 80,030,915 (GRCm39)	L107S	probably damaging	Het
Ticam1	A	T	17: 56,577,019 (GRCm39)	V692D	unknown	Het
Tipin	T	A	9: 64,201,631 (GRCm39)	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,613,441 (GRCm39)	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,707,213 (GRCm39)	M1L	unknown	Het
Ttn	C	A	2: 76,569,141 (GRCm39)	V27251F	probably damaging	Het
Uvrag	A	T	7: 98,653,896 (GRCm39)	C31*	probably null	Het
Zap70	T	C	1: 36,810,267 (GRCm39)	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,785,965 (GRCm39)	V194A	probably benign	Het
Zfp663	C	T	2: 165,200,968 (GRCm39)	W22*	probably null	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
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

2015-04-16