Mutagenetix > Incidental Mutation

Incidental Mutation 'R2074:Asxl2'

227468

Institutional Source

Beutler Lab

Gene Symbol

Asxl2

Ensembl Gene

ENSMUSG00000037486

Gene Name

ASXL transcriptional regulator 2

Synonyms

4930556B16Rik

MMRRC Submission

040079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R2074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3476857-3556852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3543779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 316 (E316G)

Ref Sequence

ENSEMBL: ENSMUSP00000117384 (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: E316G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089629
Gene: ENSMUSG00000037486
AA Change: E316G

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: E316G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106846
Gene: ENSMUSG00000037486
AA Change: E316G

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
AA Change: E364G

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116048
Gene: ENSMUSG00000037486
AA Change: E364G

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 damaging
Transcript: ENSMUST00000153102
AA Change: E316G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117384
Gene: ENSMUSG00000037486
AA Change: E316G

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,867,449 (GRCm39)	Q484*	probably null	Het
Ackr3	T	C	1: 90,141,703 (GRCm39)	I54T	probably damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankef1	T	C	2: 136,387,658 (GRCm39)	S192P	possibly damaging	Het
Ankrd16	T	G	2: 11,794,559 (GRCm39)	C315G	possibly damaging	Het
Ankzf1	T	C	1: 75,172,887 (GRCm39)	S328P	probably damaging	Het
Aqp2	A	G	15: 99,480,981 (GRCm39)	I176V	probably benign	Het
Arhgap45	A	G	10: 79,863,014 (GRCm39)	Y730C	probably damaging	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Calu	A	G	6: 29,372,614 (GRCm39)	Y263C	probably damaging	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Cenpf	T	C	1: 189,389,098 (GRCm39)	K1578R	probably damaging	Het
Cep120	A	G	18: 53,852,384 (GRCm39)	V498A	possibly damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Cps1	T	A	1: 67,243,797 (GRCm39)	I1091N	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dhx33	G	A	11: 70,890,669 (GRCm39)	R177W	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnah10	T	C	5: 124,891,738 (GRCm39)	S3259P	probably damaging	Het
Dnah7a	T	C	1: 53,496,855 (GRCm39)	I3134V	probably benign	Het
Dock3	A	G	9: 106,870,662 (GRCm39)	F584S	possibly damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Elovl3	A	T	19: 46,120,606 (GRCm39)	E33V	probably damaging	Het
Enpp5	T	C	17: 44,396,264 (GRCm39)	F392S	probably benign	Het
Eogt	T	C	6: 97,108,337 (GRCm39)	T235A	probably benign	Het
Etv3	T	C	3: 87,443,526 (GRCm39)	V370A	probably benign	Het
Ewsr1	C	T	11: 5,021,555 (GRCm39)	R466H	unknown	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Flt1	A	T	5: 147,536,416 (GRCm39)	D808E	possibly damaging	Het
Glg1	C	T	8: 111,895,303 (GRCm39)	G836E	probably damaging	Het
Gm17334	A	G	11: 53,663,654 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,589,941 (GRCm39)	D51E	probably benign	Het
Il12rb2	C	G	6: 67,337,536 (GRCm39)	C115S	probably damaging	Het
Il1rl1	T	C	1: 40,501,204 (GRCm39)	S527P	probably damaging	Het
Ireb2	A	G	9: 54,788,733 (GRCm39)	D69G	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Mff	T	A	1: 82,729,421 (GRCm39)	L287H	probably damaging	Het
Mmp27	A	G	9: 7,577,740 (GRCm39)	M311V	possibly damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Mybbp1a	G	A	11: 72,332,271 (GRCm39)	S21N	probably benign	Het
Obscn	G	C	11: 58,960,107 (GRCm39)	I3253M	probably damaging	Het
Obscn	T	C	11: 59,023,478 (GRCm39)	D633G	probably damaging	Het
Olr1	C	T	6: 129,479,057 (GRCm39)	V54I	probably benign	Het
Or10j3b	A	T	1: 173,043,377 (GRCm39)	D53V	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rabgef1	C	A	5: 130,216,402 (GRCm39)	Q52K	probably benign	Het
Rnf6	C	T	5: 146,147,716 (GRCm39)	R434H	probably damaging	Het
Rpl26	A	G	11: 68,794,099 (GRCm39)	E88G	probably benign	Het
Rpn1	T	A	6: 88,077,944 (GRCm39)	L460Q	probably damaging	Het
Sap130	T	A	18: 31,781,332 (GRCm39)	I165N	probably damaging	Het
Sash1	A	G	10: 8,632,461 (GRCm39)	V258A	probably damaging	Het
Scarb1	G	T	5: 125,371,207 (GRCm39)	N288K	probably benign	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Shank2	C	A	7: 143,963,277 (GRCm39)	S295Y	probably damaging	Het
Slc15a3	T	C	19: 10,834,663 (GRCm39)	S515P	probably damaging	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc39a11	A	G	11: 113,354,800 (GRCm39)	I143T	probably null	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Spata31g1	A	T	4: 42,974,171 (GRCm39)	D1168V	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	C	10: 23,837,071 (GRCm39)	Q227P	probably benign	Het
Tasor	T	A	14: 27,183,170 (GRCm39)	I543K	probably benign	Het
Tecta	G	T	9: 42,248,575 (GRCm39)	Y1937*	probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmem130	T	A	5: 144,692,084 (GRCm39)	T107S	possibly damaging	Het
Tmem132d	T	C	5: 128,346,195 (GRCm39)	D109G	probably damaging	Het
Tmem81	A	G	1: 132,435,644 (GRCm39)	Y150C	probably damaging	Het
Tnrc18	C	T	5: 142,745,461 (GRCm39)		probably null	Het
Trim43a	A	G	9: 88,468,147 (GRCm39)	K256R	possibly damaging	Het
Trpm6	A	G	19: 18,855,103 (GRCm39)	T1921A	probably damaging	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Ube3b	A	C	5: 114,553,316 (GRCm39)	N896T	probably benign	Het
Unc80	G	A	1: 66,718,903 (GRCm39)		probably null	Het
Upb1	A	G	10: 75,260,347 (GRCm39)	T134A	probably damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Wwc1	G	T	11: 35,780,180 (GRCm39)	D258E	possibly damaging	Het
Zfp619	T	A	7: 39,184,185 (GRCm39)	Y72N	probably benign	Het
Zfp672	G	T	11: 58,207,462 (GRCm39)	H286Q	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
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
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'- CTGTACTTCACCTACTGACTGG -3'
(R):5'- GCCAGTATTTTCCAAGGAAGGAC -3'

Sequencing Primer
(F):5'- GTACTTCACCTACTGACTGGTATTTC -3'
(R):5'- ACTTTGTAAACCAGGCTGGC -3'

Posted On

2014-09-17