Mutagenetix > Incidental Mutations

Incidental Mutation 'R7146:Asxl2'

553821

Institutional Source

Beutler Lab

Gene Symbol

Asxl2

Ensembl Gene

ENSMUSG00000037486

Gene Name

additional sex combs like 2, transcriptional regulator

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R7146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3426857-3506852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3457066 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 86 (D86V)

Ref Sequence

ENSEMBL: ENSMUSP00000106846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092003] [ENSMUST00000111215] [ENSMUST00000144247] [ENSMUST00000153102]

Predicted Effect

probably damaging
Transcript: ENSMUST00000092003
AA Change: D86V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: D86V

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: D86V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: D86V

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: R87S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144247
AA Change: D86V

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

SMART Domains

Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: D86V

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: D86V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: D86V

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

0.4929

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

95% (99/104)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,255,297	I895F	probably benign	Het
Abca16	A	G	7: 120,527,751	N1222D	possibly damaging	Het
Abcc4	A	T	14: 118,615,181	Y499N	probably damaging	Het
Adgrg7	A	C	16: 56,730,242	C702W	probably damaging	Het
Adk	C	A	14: 21,326,614	P27H		Het
Ankrd13a	T	C	5: 114,775,232	S2P	probably damaging	Het
Ano1	T	C	7: 144,655,656	H269R	probably benign	Het
Aox3	T	A	1: 58,158,529		probably null	Het
Asl	G	A	5: 130,024,449		probably benign	Het
Ate1	A	T	7: 130,481,778		probably null	Het
Bach2	A	G	4: 32,562,670	D379G	probably damaging	Het
Bdkrb1	T	A	12: 105,604,883	L236Q	probably damaging	Het
Cacna2d3	T	C	14: 29,721,697	Y24C	unknown	Het
Cage1	G	T	13: 38,023,049	N273K	probably benign	Het
Ccdc51	T	A	9: 109,091,780	I245N	probably damaging	Het
Cep152	T	C	2: 125,614,405	I229V	probably benign	Het
Chst4	T	A	8: 110,030,731	S167C	probably damaging	Het
Cntnap4	A	T	8: 112,810,636	Y713F	probably damaging	Het
Cntnap5b	G	A	1: 100,050,794		probably null	Het
Cog8	G	T	8: 107,052,373	T424K	possibly damaging	Het
Cop1	T	G	1: 159,244,352		probably null	Het
Cyp2j6	A	G	4: 96,545,782	I97T	probably damaging	Het
D430041D05Rik	T	C	2: 104,258,353	T131A	probably benign	Het
Dnah17	T	C	11: 118,082,110	D1999G	probably damaging	Het
Dnah8	A	G	17: 30,644,617	D250G	probably benign	Het
Dnah8	T	C	17: 30,769,644	V3196A	possibly damaging	Het
Dscam	A	T	16: 96,829,917	Y299*	probably null	Het
Ephb1	A	G	9: 101,963,958	S774P	probably damaging	Het
Fat1	G	A	8: 44,950,925	V238I	probably benign	Het
Fermt1	C	T	2: 132,934,865	M234I	probably benign	Het
Fmnl2	C	T	2: 53,068,540	S212L		Het
Frem1	T	C	4: 82,922,295	N1798S	possibly damaging	Het
Gabrd	T	A	4: 155,385,406	M449L	probably benign	Het
Gad1	T	C	2: 70,587,362	F302L	probably benign	Het
Gm10800	A	AC	2: 98,667,033		probably null	Het
Gm11639	A	G	11: 104,967,752	N3879S	unknown	Het
Gm11639	A	C	11: 105,022,938	D4594A	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA	GGGCCTGTAGACAGTAGGTGCTCA	18: 80,089,482		probably benign	Het
Gnb3	C	T	6: 124,836,924		probably null	Het
Gtf3c1	A	T	7: 125,672,821	M642K	possibly damaging	Het
Hps3	A	T	3: 20,008,886	W838R	probably damaging	Het
Ide	A	T	19: 37,295,944	W527R		Het
Ighe	A	T	12: 113,272,355	I117N		Het
Ighv1-50	T	C	12: 115,119,776	E108G	probably benign	Het
Ivl	G	A	3: 92,572,231	P176S	probably damaging	Het
Lamb2	T	A	9: 108,484,084	L605Q	possibly damaging	Het
Lgi3	G	A	14: 70,533,392	R157H	probably damaging	Het
Lrp1b	G	T	2: 41,375,994	C1053*	probably null	Het
Mcpt9	A	T	14: 56,026,988	S217T	probably damaging	Het
Mgat4c	T	G	10: 102,388,496	N190K	probably damaging	Het
Mknk1	T	A	4: 115,864,592	V111D	probably damaging	Het
Mmp11	T	C	10: 75,928,446	T62A	probably benign	Het
Mmp1b	C	A	9: 7,385,014	V212F	probably damaging	Het
Mmp7	A	G	9: 7,697,586		probably null	Het
Muc5b	C	T	7: 141,863,967	T3550M	possibly damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nphp3	A	T	9: 104,004,837	K169*	probably null	Het
Npy6r	G	T	18: 44,275,721	V70F	probably benign	Het
Nsun2	T	A	13: 69,626,553		probably null	Het
Oplah	T	A	15: 76,302,660	I652F	probably benign	Het
Pcdh18	T	C	3: 49,755,822	N348S	probably damaging	Het
Pcdhb5	T	A	18: 37,321,356	V263D	probably damaging	Het
Pcdhga1	C	A	18: 37,662,111	T56N	probably benign	Het
Pdk4	A	G	6: 5,491,068		probably null	Het
Pfkp	C	A	13: 6,602,781	V434F	probably benign	Het
Phospho1	G	A	11: 95,830,906	R134H	probably damaging	Het
Polg2	G	T	11: 106,772,746	Q374K	probably benign	Het
Ptpra	T	C	2: 130,537,651		probably null	Het
Rassf3	C	T	10: 121,416,147	E120K	probably benign	Het
Reln	A	T	5: 22,106,097	S273T	probably damaging	Het
Scarb1	C	T	5: 125,284,025	A133T	probably benign	Het
Scn3a	T	A	2: 65,483,142	K1142N	probably damaging	Het
Sema3c	G	A	5: 17,694,703	V398I	probably benign	Het
Serpine1	C	A	5: 137,071,064	Q80H	probably damaging	Het
Sh3gl1	G	A	17: 56,017,646	T334M	probably damaging	Het
Smg7	T	C	1: 152,861,825	N122D	probably benign	Het
Speer4b	T	C	5: 27,498,710	I144V	probably benign	Het
Spire2	T	A	8: 123,369,250	D671E	probably benign	Het
Sspo	A	T	6: 48,501,095	H5144L	probably benign	Het
Sstr2	A	T	11: 113,625,353	Q366L	probably damaging	Het
Ssu72	T	C	4: 155,731,393	F98S	probably damaging	Het
Syde2	C	T	3: 146,007,115	Q1003*	probably null	Het
Tapbp	G	A	17: 33,925,487	A186T	possibly damaging	Het
Tcf12	T	A	9: 71,883,103		probably null	Het
Tnfrsf22	A	T	7: 143,640,819	C124S	probably damaging	Het
Txlnb	A	T	10: 17,827,798	T235S	possibly damaging	Het
Uaca	T	C	9: 60,870,413	L694P	probably damaging	Het
Unc13a	T	A	8: 71,630,553	N1620Y	probably damaging	Het
Vmn2r10	C	T	5: 109,003,334	C138Y	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r28	T	A	7: 5,481,496	E568D	probably benign	Het
Vmn2r57	A	T	7: 41,448,471	H57Q	possibly damaging	Het
Vwa5b1	A	G	4: 138,581,612	S756P	probably benign	Het
Washc5	C	A	15: 59,352,501	E470*	probably null	Het
Xpot	A	T	10: 121,606,773	V508D	probably damaging	Het
Zfp616	A	T	11: 74,085,261	K785N	possibly damaging	Het
Zfp653	T	C	9: 22,065,899	N119D	probably damaging	Het
Zfp729b	A	G	13: 67,593,376	S257P	probably damaging	Het
Zfp82	T	A	7: 30,056,167	T497S	probably benign	Het
Znrf4	T	G	17: 56,512,305	M1L	probably benign	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
IGL01325:Asxl2	APN	12	3427172	missense	probably damaging	0.98
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCAATGTTGAGGACCTAGTTAG -3'
(R):5'- AAGTGACAAGGCACTGCTGC -3'

Sequencing Primer
(F):5'- TGAGATGCTACCCTATACAAACACAG -3'
(R):5'- GCAGCAGTCGGAGATTACCTTTC -3'

Posted On

2019-05-15