Mutagenetix > Incidental Mutation

Incidental Mutation 'R7396:Asxl2'

573846

Institutional Source

Beutler Lab

Gene Symbol

Asxl2

Ensembl Gene

ENSMUSG00000037486

Gene Name

ASXL transcriptional regulator 2

Synonyms

4930556B16Rik

MMRRC Submission

045478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3476857-3556852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3492529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 38 (I38N)

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 damaging
Transcript: ENSMUST00000092003
AA Change: I38N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: I38N

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: I38N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: I38N

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: I8N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144247
AA Change: I38N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: I38N

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: I38N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: I38N

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

Meta Mutation Damage Score

0.7187

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,831,609 (GRCm39)	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,351,722 (GRCm39)	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,373,052 (GRCm39)	L185H	probably damaging	Het
Actr1a	G	A	19: 46,368,068 (GRCm39)	T293I	probably benign	Het
Adig	T	C	2: 158,347,836 (GRCm39)	L50P	unknown	Het
Ankrd28	A	G	14: 31,424,159 (GRCm39)	S994P	probably benign	Het
Ankrd35	T	A	3: 96,590,813 (GRCm39)	D366E	probably damaging	Het
Aqr	A	T	2: 113,950,427 (GRCm39)	Y927*	probably null	Het
Atp9b	T	C	18: 80,780,057 (GRCm39)	I1092V		Het
B4galnt1	A	G	10: 127,007,485 (GRCm39)	E462G	possibly damaging	Het
BC048671	T	A	6: 90,280,273 (GRCm39)	V63E	probably damaging	Het
Bod1l	A	G	5: 41,988,889 (GRCm39)	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,645,668 (GRCm39)	I234L	probably benign	Het
Camk2b	A	C	11: 5,928,432 (GRCm39)	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,870,374 (GRCm39)		probably null	Het
Ces1b	G	T	8: 93,789,757 (GRCm39)	N390K	probably benign	Het
Chpf	T	C	1: 75,451,927 (GRCm39)	Q671R	probably benign	Het
Cspg4b	T	A	13: 113,455,524 (GRCm39)	S523R		Het
Dbr1	C	A	9: 99,465,443 (GRCm39)	N340K	probably damaging	Het
Dram1	T	A	10: 88,176,507 (GRCm39)	T73S	probably benign	Het
Efemp1	A	T	11: 28,817,501 (GRCm39)	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,324,887 (GRCm39)	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,094,111 (GRCm39)	N434I	probably benign	Het
Ercc6	C	T	14: 32,291,762 (GRCm39)	T1042I	probably benign	Het
Etl4	C	T	2: 20,803,449 (GRCm39)	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,278,091 (GRCm39)	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,517,954 (GRCm39)	D344G	probably benign	Het
Fgf15	G	T	7: 144,453,542 (GRCm39)	V172L	probably benign	Het
Fmod	T	C	1: 133,967,978 (GRCm39)	V6A	probably benign	Het
Furin	C	A	7: 80,047,862 (GRCm39)	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207 (GRCm39)	V297A	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Helb	T	C	10: 119,925,476 (GRCm39)	D967G	probably benign	Het
Hmcn1	T	C	1: 150,439,382 (GRCm39)	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,276,634 (GRCm39)	P70Q	not run	Het
Hsd17b1	T	C	11: 100,970,033 (GRCm39)	V155A	probably damaging	Het
Ireb2	T	A	9: 54,789,617 (GRCm39)	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,563,306 (GRCm39)	L397F	probably benign	Het
Lcorl	A	T	5: 46,014,801 (GRCm39)		probably null	Het
Lgi2	A	T	5: 52,695,753 (GRCm39)	I402N	probably damaging	Het
Lrat	T	A	3: 82,810,590 (GRCm39)	R144*	probably null	Het
Mfhas1	G	T	8: 36,057,353 (GRCm39)	L609F	probably damaging	Het
Mink1	T	A	11: 70,495,994 (GRCm39)	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,362,152 (GRCm39)	D1821V	unknown	Het
Myh2	T	C	11: 67,085,554 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,234,044 (GRCm39)	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,443,802 (GRCm39)	V76M	probably damaging	Het
Neurod4	T	C	10: 130,106,891 (GRCm39)	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,765,615 (GRCm39)	D59E	probably benign	Het
Or2j6	C	T	7: 139,980,476 (GRCm39)	R161H	probably benign	Het
Or2w1b	T	C	13: 21,300,477 (GRCm39)	V205A	probably benign	Het
Or52n2b	C	T	7: 104,565,558 (GRCm39)	S315N	probably benign	Het
Pcdh15	T	A	10: 74,466,522 (GRCm39)	V1513D	probably benign	Het
Pclo	C	A	5: 14,589,902 (GRCm39)	T734K	unknown	Het
Phc2	A	G	4: 128,641,954 (GRCm39)	R759G	probably benign	Het
Plch1	A	T	3: 63,606,375 (GRCm39)	N1176K	probably benign	Het
Plec	T	A	15: 76,059,089 (GRCm39)	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,282,707 (GRCm39)	T426N	probably benign	Het
Rictor	A	G	15: 6,816,462 (GRCm39)	T1245A	not run	Het
Rilp	T	C	11: 75,401,712 (GRCm39)	V164A	probably damaging	Het
Rnf39	A	T	17: 37,257,971 (GRCm39)	T168S	probably damaging	Het
Rptor	C	G	11: 119,763,181 (GRCm39)	Q922E	probably benign	Het
Sall1	A	T	8: 89,759,396 (GRCm39)	L236Q	probably damaging	Het
Skint7	A	G	4: 111,845,324 (GRCm39)	T379A	probably benign	Het
Spata22	C	A	11: 73,236,702 (GRCm39)	T336N	probably damaging	Het
Spata31	T	C	13: 65,068,547 (GRCm39)	S232P	probably benign	Het
Spink5	T	A	18: 44,110,722 (GRCm39)	C98S	possibly damaging	Het
Stard6	T	C	18: 70,633,506 (GRCm39)	V171A	possibly damaging	Het
Tex9	A	T	9: 72,388,072 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,728,519 (GRCm39)	D621G	probably damaging	Het
Trak1	C	T	9: 121,277,973 (GRCm39)	T353M	possibly damaging	Het
Trim68	A	T	7: 102,327,569 (GRCm39)	Y461*	probably null	Het
Usp1	A	G	4: 98,814,688 (GRCm39)		probably benign	Het
Vmn2r42	T	A	7: 8,195,641 (GRCm39)	I502F	probably benign	Het
Wbp4	C	A	14: 79,714,261 (GRCm39)	G84C	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp787	A	G	7: 6,135,106 (GRCm39)	*382Q	probably null	Het
Zfp831	G	T	2: 174,487,002 (GRCm39)	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,007,882 (GRCm39)	A140P	probably benign	Het
Zscan4e	T	A	7: 11,041,002 (GRCm39)	Y290F	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
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
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'- ATGCACAGTCACAGATAGGG -3'
(R):5'- GGCATAAAGATAATTCCAGACCTTCTG -3'

Sequencing Primer
(F):5'- ACTGTTTGTGGCTGAGGAAAAAGTC -3'
(R):5'- CCTTCTGAAGAATTAATGTGCATAGG -3'

Posted On

2019-09-13