Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Ash2l'

410997

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ash2l

Ensembl Gene

ENSMUSG00000031575

Gene Name

ASH2 like histone lysine methyltransferase complex subunit

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

26306028-26337722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26308650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 543 (V543A)

Ref Sequence

ENSEMBL: ENSMUSP00000070957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033979] [ENSMUST00000068892] [ENSMUST00000110608] [ENSMUST00000110609] [ENSMUST00000110610] [ENSMUST00000139946] [ENSMUST00000166078] [ENSMUST00000151856]

AlphaFold

Q91X20

Predicted Effect

probably benign
Transcript: ENSMUST00000033979

SMART Domains

Protein: ENSMUSP00000033979
Gene: ENSMUSG00000031574

Domain	Start	End	E-Value	Type
START	75	280	3.63e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068892
AA Change: V543A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: V543A

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	36	59	N/A	INTRINSIC
PDB:3S32\|A	90	275	1e-136	PDB
Blast:PHD	103	146	2e-6	BLAST
low complexity region	280	306	N/A	INTRINSIC
SPRY	413	577	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110608

SMART Domains

Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	455	1.13e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110609
AA Change: V454A

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

SMART Domains

Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: V454A

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	488	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110610
AA Change: V454A

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

SMART Domains

Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: V454A

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	488	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139946

SMART Domains

Protein: ENSMUSP00000118346
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	36	59	N/A	INTRINSIC
PDB:3S32\|A	90	275	1e-141	PDB
Blast:PHD	103	146	1e-6	BLAST
transmembrane domain	278	300	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142358

Predicted Effect

probably benign
Transcript: ENSMUST00000166078
AA Change: V454A

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

SMART Domains

Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: V454A

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	488	4.87e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149550

Predicted Effect

probably benign
Transcript: ENSMUST00000151856

SMART Domains

Protein: ENSMUSP00000117488
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	36	59	N/A	INTRINSIC
PDB:3S32\|A	90	272	1e-125	PDB
Blast:PHD	103	146	1e-6	BLAST
transmembrane domain	286	305	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele die before E8.5-E11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 78,136,167 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,008,085 (GRCm39)	I546T	possibly damaging	Het
Arsj	A	T	3: 126,233,053 (GRCm39)		probably benign	Het
B4galnt3	A	G	6: 120,208,555 (GRCm39)		probably benign	Het
Blvra	T	A	2: 126,924,871 (GRCm39)	V11E	probably damaging	Het
Calcb	T	C	7: 114,319,371 (GRCm39)	L51P	probably damaging	Het
Cd36	T	A	5: 18,025,563 (GRCm39)	K52N	probably benign	Het
Cebpz	T	C	17: 79,229,982 (GRCm39)	N857S	probably benign	Het
Ces1b	A	G	8: 93,791,502 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,470,295 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,674 (GRCm39)	L283H	probably damaging	Het
Ctc1	T	C	11: 68,921,987 (GRCm39)	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,408,730 (GRCm39)	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,801,600 (GRCm39)	N83D	probably benign	Het
Eci2	T	C	13: 35,172,296 (GRCm39)	T146A	probably benign	Het
Erbin	T	C	13: 103,977,671 (GRCm39)	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,045,781 (GRCm39)	E45G	probably damaging	Het
Fat4	A	G	3: 39,045,834 (GRCm39)	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Garem1	G	T	18: 21,264,523 (GRCm39)	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451 (GRCm38)	I37T	probably benign	Het
Ikzf5	T	C	7: 130,998,494 (GRCm39)	K13E	probably damaging	Het
Kl	T	A	5: 150,906,200 (GRCm39)	C523*	probably null	Het
Klhl7	G	A	5: 24,364,687 (GRCm39)	V574I	probably benign	Het
Lyst	T	C	13: 13,856,029 (GRCm39)	V2450A	probably benign	Het
Map3k6	A	T	4: 132,976,999 (GRCm39)	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,401,074 (GRCm39)	E891G	probably damaging	Het
Myo7b	A	G	18: 32,147,355 (GRCm39)	S63P	probably damaging	Het
Ndufaf7	C	T	17: 79,252,439 (GRCm39)	R283C	possibly damaging	Het
Nepro	G	T	16: 44,547,462 (GRCm39)	A60S	probably damaging	Het
Nop56	T	C	2: 130,119,445 (GRCm39)	S354P	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Or4a80	T	C	2: 89,583,172 (GRCm39)		probably null	Het
Or52ad1	A	T	7: 102,996,056 (GRCm39)	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,091,852 (GRCm39)		probably benign	Het
Parp12	C	T	6: 39,091,165 (GRCm39)	D142N	probably benign	Het
Pcdh15	G	A	10: 74,466,527 (GRCm39)	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,820,778 (GRCm39)	T70M	probably benign	Het
Pld4	T	C	12: 112,733,263 (GRCm39)	F280L	probably benign	Het
Ppm1k	C	A	6: 57,501,759 (GRCm39)	A135S	probably damaging	Het
Prkcq	A	T	2: 11,237,356 (GRCm39)	Y45F	probably benign	Het
Prom1	T	A	5: 44,187,076 (GRCm39)	I385F	probably damaging	Het
Prss12	A	G	3: 123,299,036 (GRCm39)	N603D	probably benign	Het
Ptbp2	G	T	3: 119,514,074 (GRCm39)	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,193,183 (GRCm39)	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,008,429 (GRCm39)	Y42H	possibly damaging	Het
Serpina9	G	A	12: 103,974,869 (GRCm39)	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,269,275 (GRCm39)	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 64,379,617 (GRCm39)	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,523,745 (GRCm39)	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,730,018 (GRCm39)	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619 (GRCm39)	I209N	probably benign	Het
Tmc4	T	A	7: 3,670,177 (GRCm39)	I484L	probably benign	Het
Ttll5	G	A	12: 85,965,758 (GRCm39)	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,994,041 (GRCm39)	M391V	probably benign	Het
Xpo5	T	A	17: 46,526,740 (GRCm39)		probably null	Het

Other mutations in Ash2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Ash2l	APN	8	26,329,868 (GRCm39)	missense	probably damaging	1.00
IGL01913:Ash2l	APN	8	26,309,652 (GRCm39)	critical splice donor site	probably null
IGL02379:Ash2l	APN	8	26,312,799 (GRCm39)	missense	probably damaging	1.00
R0639:Ash2l	UTSW	8	26,313,319 (GRCm39)	missense	possibly damaging	0.83
R1217:Ash2l	UTSW	8	26,312,913 (GRCm39)	missense	probably damaging	0.97
R1244:Ash2l	UTSW	8	26,307,449 (GRCm39)	missense	probably damaging	0.99
R1440:Ash2l	UTSW	8	26,317,406 (GRCm39)	missense	probably benign	0.27
R2282:Ash2l	UTSW	8	26,325,070 (GRCm39)	missense	probably damaging	0.99
R3013:Ash2l	UTSW	8	26,329,792 (GRCm39)	missense	probably damaging	0.96
R3721:Ash2l	UTSW	8	26,308,653 (GRCm39)	missense	probably damaging	1.00
R4155:Ash2l	UTSW	8	26,307,482 (GRCm39)	missense	probably damaging	1.00
R4727:Ash2l	UTSW	8	26,308,623 (GRCm39)	missense	probably damaging	0.99
R5637:Ash2l	UTSW	8	26,317,339 (GRCm39)	missense	probably damaging	1.00
R5973:Ash2l	UTSW	8	26,307,642 (GRCm39)	missense	possibly damaging	0.93
R6473:Ash2l	UTSW	8	26,325,008 (GRCm39)	missense	probably damaging	0.98
R6678:Ash2l	UTSW	8	26,323,805 (GRCm39)	missense	probably damaging	1.00
R6710:Ash2l	UTSW	8	26,309,740 (GRCm39)	missense	possibly damaging	0.63
R6954:Ash2l	UTSW	8	26,312,796 (GRCm39)	missense	possibly damaging	0.52
R7166:Ash2l	UTSW	8	26,317,348 (GRCm39)	missense	probably damaging	1.00
R7266:Ash2l	UTSW	8	26,317,233 (GRCm39)	nonsense	probably null
R7483:Ash2l	UTSW	8	26,312,798 (GRCm39)	missense	probably damaging	1.00
R7828:Ash2l	UTSW	8	26,313,214 (GRCm39)	missense	possibly damaging	0.91
R7962:Ash2l	UTSW	8	26,329,792 (GRCm39)	missense	probably damaging	0.96
R8084:Ash2l	UTSW	8	26,321,322 (GRCm39)	missense	probably benign	0.01
R8889:Ash2l	UTSW	8	26,313,247 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02