Mutagenetix > Incidental Mutation

Incidental Mutation 'R4727:Ash2l'

358537

Institutional Source

Beutler Lab

Gene Symbol

Ash2l

Ensembl Gene

ENSMUSG00000031575

Gene Name

ASH2 like histone lysine methyltransferase complex subunit

Synonyms

MMRRC Submission

041602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26306028-26337722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26308623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 552 (I552N)

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 damaging
Transcript: ENSMUST00000068892
AA Change: I552N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: I552N

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

possibly damaging
Transcript: ENSMUST00000110609
AA Change: I463N

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: I463N

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

possibly damaging
Transcript: ENSMUST00000110610
AA Change: I463N

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: I463N

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

possibly damaging
Transcript: ENSMUST00000166078
AA Change: I463N

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: I463N

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,062,489 (GRCm39)	N483S	probably benign	Het
Acoxl	T	G	2: 127,820,658 (GRCm39)	L70R	probably damaging	Het
Ankrd44	A	T	1: 54,706,576 (GRCm39)	F627I	probably benign	Het
B4galt1	A	G	4: 40,807,812 (GRCm39)	S330P	probably damaging	Het
Bnip3	T	C	7: 138,500,435 (GRCm39)	S52G	probably damaging	Het
Btd	A	G	14: 31,384,278 (GRCm39)	Q88R	probably benign	Het
C4bp	A	G	1: 130,566,922 (GRCm39)	V318A	probably benign	Het
Cacna1e	G	A	1: 154,312,214 (GRCm39)	Q1530*	probably null	Het
Calm1	T	C	12: 100,166,485 (GRCm39)	F23S	probably benign	Het
Cep290	T	G	10: 100,399,132 (GRCm39)	I2218R	probably benign	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Cyp2d9	T	C	15: 82,338,602 (GRCm39)	L1P	probably null	Het
Dgki	C	A	6: 37,276,748 (GRCm39)		probably benign	Het
Dhh	A	G	15: 98,796,023 (GRCm39)	L44P	probably damaging	Het
Dnah12	A	G	14: 26,594,274 (GRCm39)	I3409V	probably damaging	Het
Dnah7b	G	A	1: 46,246,816 (GRCm39)	R1664H	probably damaging	Het
Dnah8	T	C	17: 31,070,721 (GRCm39)	M4469T	probably damaging	Het
Ehhadh	T	C	16: 21,581,181 (GRCm39)	I604V	probably benign	Het
Esr1	A	G	10: 4,951,418 (GRCm39)	I599V	probably benign	Het
Faf1	G	A	4: 109,697,564 (GRCm39)	D297N	probably damaging	Het
Gfra1	A	T	19: 58,252,386 (GRCm39)	N380K	probably damaging	Het
Ghitm	A	G	14: 36,855,700 (GRCm39)	C8R	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Itsn2	A	G	12: 4,757,660 (GRCm39)	Y1424C	probably damaging	Het
Kcnj10	A	G	1: 172,197,266 (GRCm39)	D260G	probably damaging	Het
Klf16	T	C	10: 80,405,020 (GRCm39)	D164G	probably damaging	Het
Klhdc7b	T	A	15: 89,271,785 (GRCm39)	L889Q	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Lrp11	A	G	10: 7,466,348 (GRCm39)	E153G	probably benign	Het
Lrrc43	A	T	5: 123,632,366 (GRCm39)	T170S	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Man1a	A	T	10: 53,783,668 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,657,819 (GRCm39)	P570S	possibly damaging	Het
Ms4a3	A	G	19: 11,608,742 (GRCm39)	M170T	probably damaging	Het
Naip5	C	A	13: 100,358,378 (GRCm39)	A953S	possibly damaging	Het
Nfrkb	T	C	9: 31,314,919 (GRCm39)	S580P	probably damaging	Het
Or51q1c	T	G	7: 103,653,097 (GRCm39)	V205G	probably benign	Het
Or8b38	T	C	9: 37,973,389 (GRCm39)	Y258H	probably damaging	Het
Padi6	T	G	4: 140,458,506 (GRCm39)	D462A	probably damaging	Het
Pde6a	A	G	18: 61,364,561 (GRCm39)	R206G	probably benign	Het
Plk4	A	G	3: 40,759,589 (GRCm39)	N162D	probably benign	Het
Ptpn13	T	A	5: 103,717,721 (GRCm39)	D1922E	probably benign	Het
Rangap1	G	A	15: 81,613,956 (GRCm39)		probably benign	Het
Rapgef3	A	G	15: 97,658,481 (GRCm39)	L175P	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Satb1	T	C	17: 52,111,375 (GRCm39)	Y161C	probably damaging	Het
Sel1l3	C	A	5: 53,301,525 (GRCm39)		probably null	Het
Slc17a7	C	T	7: 44,822,358 (GRCm39)	S398L	possibly damaging	Het
Slc22a4	T	A	11: 53,918,477 (GRCm39)	E109V	possibly damaging	Het
Slc26a7	C	T	4: 14,590,477 (GRCm39)	A105T	probably damaging	Het
Slc47a1	T	C	11: 61,254,277 (GRCm39)	N145S	possibly damaging	Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tefm	T	C	11: 80,031,279 (GRCm39)		probably benign	Het
Ttbk2	T	C	2: 120,575,851 (GRCm39)	Y1042C	probably benign	Het
Wdfy3	T	C	5: 102,077,894 (GRCm39)	Q892R	probably damaging	Het
Wdr33	T	A	18: 32,021,500 (GRCm39)	H683Q	unknown	Het
Zfp36l2	T	A	17: 84,495,089 (GRCm39)	I12F	probably benign	Het
Zfyve26	A	T	12: 79,291,170 (GRCm39)	M2145K	probably benign	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
IGL03149:Ash2l	APN	8	26,308,650 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCTGAGACATTGGCCTCC -3'
(R):5'- CCAGTCCTTCCTCCAAGTAAAG -3'

Sequencing Primer
(F):5'- TGAGACATTGGCCTCCCAGAG -3'
(R):5'- CAACTGTTCACTATATGCAGCATAG -3'

Posted On

2015-11-11