Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Asxl2'

210196

Institutional Source

Beutler Lab

Gene Symbol

Asxl2

Ensembl Gene

ENSMUSG00000037486

Gene Name

ASXL transcriptional regulator 2

Synonyms

4930556B16Rik

MMRRC Submission

039928-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3476857-3556852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3524577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 202 (V202F)

Ref Sequence

ENSEMBL: ENSMUSP00000116048 (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: V202F

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: V202F

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 damaging
Transcript: ENSMUST00000111215
AA Change: V202F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: V202F

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 damaging
Transcript: ENSMUST00000144247
AA Change: V202F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: V202F

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: V202F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: V202F

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

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	C	11: 101,301,057 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,259 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Adam15	C	A	3: 89,252,637 (GRCm39)	M317I	probably benign	Het
Ago3	T	C	4: 126,240,530 (GRCm39)	T111A	probably damaging	Het
Amz1	G	T	5: 140,738,216 (GRCm39)	S492I	probably benign	Het
Arid1a	T	C	4: 133,421,072 (GRCm39)	N911S	unknown	Het
Ascl2	C	A	7: 142,521,900 (GRCm39)	A115S	probably damaging	Het
Ash1l	T	C	3: 88,891,835 (GRCm39)	V1238A	probably benign	Het
Atp10a	A	T	7: 58,478,460 (GRCm39)	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,288,113 (GRCm39)	I374L	probably benign	Het
Bmal2	A	T	6: 146,712,308 (GRCm39)	E111V	probably benign	Het
Bmx	T	C	X: 163,022,411 (GRCm39)	H157R	probably benign	Het
Camk4	T	A	18: 33,291,869 (GRCm39)		probably null	Het
Ccdc103	G	A	11: 102,773,392 (GRCm39)	D5N	probably benign	Het
Ccdc186	A	T	19: 56,781,793 (GRCm39)	N70K	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714 (GRCm39)	S122R	probably benign	Het
Cnst	T	C	1: 179,450,356 (GRCm39)	S607P	probably damaging	Het
Col8a2	C	A	4: 126,205,926 (GRCm39)	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,594,204 (GRCm39)		probably null	Het
Crim1	C	T	17: 78,620,556 (GRCm39)	T332I	probably benign	Het
Csmd1	A	T	8: 15,956,116 (GRCm39)	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,771,402 (GRCm39)	S998T	probably benign	Het
Dab2ip	C	G	2: 35,608,827 (GRCm39)	A587G	probably damaging	Het
Dach1	C	T	14: 98,138,829 (GRCm39)	G486D	probably damaging	Het
Ddx24	T	C	12: 103,376,241 (GRCm39)	I752V	probably damaging	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dhx33	A	G	11: 70,879,933 (GRCm39)	V359A	probably benign	Het
Dip2c	A	T	13: 9,583,386 (GRCm39)	T123S	probably benign	Het
Dync1h1	G	A	12: 110,629,063 (GRCm39)	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,216,431 (GRCm39)	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,418,692 (GRCm39)	S462P	probably damaging	Het
Elmod2	G	C	8: 84,042,998 (GRCm39)	R277G	probably benign	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Ercc8	A	T	13: 108,312,100 (GRCm39)	K172*	probably null	Het
Fat3	T	C	9: 15,909,411 (GRCm39)	N2197S	probably benign	Het
Fbf1	A	G	11: 116,036,818 (GRCm39)	V972A	possibly damaging	Het
Fcgbpl1	T	C	7: 27,843,773 (GRCm39)	V887A	possibly damaging	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Fzd1	G	T	5: 4,807,481 (GRCm39)	H34N	probably benign	Het
Galnt17	T	A	5: 131,140,676 (GRCm39)	Y147F	probably benign	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gdf6	T	C	4: 9,859,971 (GRCm39)	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm2381	A	T	7: 42,469,352 (GRCm39)	H257Q	probably damaging	Het
Hivep1	A	T	13: 42,309,122 (GRCm39)	K454M	probably benign	Het
Hmmr	T	A	11: 40,598,925 (GRCm39)	E566D	probably damaging	Het
Hydin	T	G	8: 111,314,404 (GRCm39)	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,514,074 (GRCm39)	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,393,576 (GRCm39)	D667G	probably benign	Het
Lama3	T	C	18: 12,714,855 (GRCm39)	I3278T	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,565,796 (GRCm39)	M666K	probably damaging	Het
Ndnf	T	G	6: 65,680,297 (GRCm39)	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,172,108 (GRCm39)	I594N	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2ag16	T	C	7: 106,352,202 (GRCm39)	N131S	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Or51q1	G	A	7: 103,628,997 (GRCm39)	W199*	probably null	Het
Or52z13	A	G	7: 103,246,550 (GRCm39)	N9S	probably benign	Het
Paxbp1	T	C	16: 90,841,193 (GRCm39)		probably benign	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,410,825 (GRCm39)	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,195,965 (GRCm39)	V217A	probably benign	Het
Phf11	A	T	14: 59,496,062 (GRCm39)	S17R	probably benign	Het
Pira13	A	T	7: 3,825,918 (GRCm39)	I317N	probably benign	Het
Pirb	A	T	7: 3,717,587 (GRCm39)	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517 (GRCm39)	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,887,300 (GRCm39)	M48K	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkca	A	T	11: 107,830,438 (GRCm39)	D217E	possibly damaging	Het
Rac3	A	C	11: 120,614,163 (GRCm39)	I142L	probably benign	Het
Ralgapb	G	T	2: 158,286,595 (GRCm39)	A347S	probably damaging	Het
Rbm43	G	C	2: 51,815,446 (GRCm39)	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Rsph10b	T	C	5: 143,922,309 (GRCm39)	F409L	probably benign	Het
Ryr2	A	T	13: 11,715,235 (GRCm39)	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,161,696 (GRCm39)	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,476,767 (GRCm39)	M786K	probably benign	Het
Sema4g	C	A	19: 44,986,061 (GRCm39)	R301S	probably damaging	Het
Senp6	A	T	9: 80,021,056 (GRCm39)	E245D	possibly damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,290,968 (GRCm39)	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,662,437 (GRCm39)	N74D	probably damaging	Het
Slc28a1	T	A	7: 80,791,783 (GRCm39)	F316L	probably damaging	Het
Slfn8	G	A	11: 82,894,447 (GRCm39)	Q731*	probably null	Het
Slitrk4	A	G	X: 63,316,229 (GRCm39)	I146T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Smg8	G	T	11: 86,971,439 (GRCm39)	Y777*	probably null	Het
Smyd1	T	A	6: 71,216,563 (GRCm39)	K61N	probably benign	Het
Sod2	T	C	17: 13,234,056 (GRCm39)	*223R	probably null	Het
Sp6	G	T	11: 96,912,334 (GRCm39)	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,850,509 (GRCm39)	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,399,751 (GRCm39)	D91G	probably damaging	Het
Spg7	A	G	8: 123,807,480 (GRCm39)	T419A	probably benign	Het
St8sia4	A	G	1: 95,555,298 (GRCm39)	I244T	probably damaging	Het
Tbl2	C	T	5: 135,181,845 (GRCm39)	R27W	probably damaging	Het
Tmed4	G	A	11: 6,224,694 (GRCm39)	P47L	probably damaging	Het
Tmsb10b	T	C	7: 24,561,731 (GRCm39)	I10T	possibly damaging	Het
Tmtc1	T	C	6: 148,345,546 (GRCm39)	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,431,920 (GRCm39)		probably null	Het
Unc13d	A	G	11: 115,961,121 (GRCm39)	F412S	probably damaging	Het
Unc45b	A	C	11: 82,816,913 (GRCm39)	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,853 (GRCm39)	M687V	probably benign	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vps51	A	G	19: 6,119,499 (GRCm39)	V625A	probably benign	Het
Wapl	T	A	14: 34,413,869 (GRCm39)	W244R	probably damaging	Het
Wdr75	C	T	1: 45,862,563 (GRCm39)	T794I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTCACCAGTTTGCTTGGTGG -3'
(R):5'- CTGTGGCAGCAGAAAGATTATG -3'

Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- ATTCCATTGGACAGGGTG -3'

Posted On

2014-06-30