Mutagenetix > Incidental Mutation

Incidental Mutation 'R5637:Ash2l'

440442

Institutional Source

Beutler Lab

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 #

R5637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26306028-26337722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26317339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 249 (Y249C)

Ref Sequence

ENSEMBL: ENSMUSP00000132546 (fasta)

Gene Model

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

AlphaFold

Q91X20

Predicted Effect

probably damaging
Transcript: ENSMUST00000068892
AA Change: Y338C

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

SMART Domains

Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: Y338C

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 damaging
Transcript: ENSMUST00000110608
AA Change: Y249C

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

SMART Domains

Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575
AA Change: Y249C

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 damaging
Transcript: ENSMUST00000110609
AA Change: Y249C

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

SMART Domains

Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: Y249C

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 damaging
Transcript: ENSMUST00000110610
AA Change: Y249C

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

SMART Domains

Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: Y249C

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
AA Change: I307V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118346
Gene: ENSMUSG00000031575
AA Change: I307V

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

noncoding transcript
Transcript: ENSMUST00000149550

Predicted Effect

probably benign
Transcript: ENSMUST00000151856
AA Change: I313V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117488
Gene: ENSMUSG00000031575
AA Change: I313V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166078
AA Change: Y249C

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

SMART Domains

Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: Y249C

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: ENSMUST00000156759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211188

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,694,050 (GRCm39)	F327L	probably damaging	Het
Adgrl3	C	A	5: 81,841,391 (GRCm39)	S824Y	probably damaging	Het
Arfip2	A	G	7: 105,286,370 (GRCm39)	M144T	probably damaging	Het
Arhgap32	A	G	9: 32,158,502 (GRCm39)	N179S	probably damaging	Het
Ccndbp1	A	G	2: 120,842,165 (GRCm39)	T141A	probably benign	Het
Cd177	T	A	7: 24,455,748 (GRCm39)	H258L	probably benign	Het
Celsr3	T	C	9: 108,714,332 (GRCm39)	W1956R	probably damaging	Het
Cep295	T	C	9: 15,245,108 (GRCm39)		probably null	Het
Cngb1	T	C	8: 95,984,549 (GRCm39)	H420R	probably damaging	Het
Cobl	C	T	11: 12,246,531 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,247 (GRCm39)	D337G	possibly damaging	Het
Dmrta1	A	G	4: 89,577,068 (GRCm39)	N175D	probably benign	Het
Dnah7b	G	T	1: 46,395,674 (GRCm39)	V3859L	possibly damaging	Het
Dnah7c	A	G	1: 46,799,521 (GRCm39)		probably null	Het
Dusp4	C	A	8: 35,284,451 (GRCm39)	H255Q	probably damaging	Het
Evx1	T	C	6: 52,292,751 (GRCm39)	V134A	possibly damaging	Het
F12	T	C	13: 55,570,228 (GRCm39)	K93E	possibly damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fcgbpl1	A	G	7: 27,852,277 (GRCm39)	N1267D	probably benign	Het
Frem2	A	G	3: 53,560,358 (GRCm39)	I1383T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr158	A	G	2: 21,788,083 (GRCm39)	I575V	probably benign	Het
Hdc	A	G	2: 126,458,109 (GRCm39)	V71A	probably benign	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Inppl1	A	T	7: 101,478,055 (GRCm39)	S652R	probably benign	Het
Itpripl1	T	C	2: 126,984,044 (GRCm39)	D26G	probably damaging	Het
Klc1	T	A	12: 111,740,842 (GRCm39)	L106H	probably damaging	Het
Klhl25	T	A	7: 75,515,540 (GRCm39)		probably null	Het
Krt6a	T	C	15: 101,600,714 (GRCm39)	D318G	probably benign	Het
Lrp2	T	C	2: 69,302,762 (GRCm39)	N2989S	probably damaging	Het
Lta4h	A	G	10: 93,304,731 (GRCm39)		probably null	Het
Man1c1	A	G	4: 134,318,735 (GRCm39)	S251P	probably damaging	Het
Mapre2	T	C	18: 23,886,919 (GRCm39)		probably benign	Het
Mfap3l	A	T	8: 61,109,821 (GRCm39)	I66F	probably damaging	Het
Mvk	A	G	5: 114,594,003 (GRCm39)	E286G	possibly damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or14a260	G	A	7: 85,984,812 (GRCm39)	T264I	probably benign	Het
Or4f52	T	A	2: 111,061,456 (GRCm39)	K227N	probably benign	Het
Or7d11	A	T	9: 19,966,279 (GRCm39)	V160D	possibly damaging	Het
Pcdh9	A	G	14: 94,123,198 (GRCm39)	F991L	possibly damaging	Het
Pcdha9	T	C	18: 37,131,426 (GRCm39)	V165A	probably benign	Het
Pcsk6	A	G	7: 65,618,745 (GRCm39)	H437R	probably damaging	Het
Pfas	C	T	11: 68,884,149 (GRCm39)	V589M	probably damaging	Het
Prpf40a	A	G	2: 53,046,746 (GRCm39)	V288A	possibly damaging	Het
Rnf183	T	C	4: 62,346,387 (GRCm39)	D137G	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Scap	G	A	9: 110,210,640 (GRCm39)	A991T	possibly damaging	Het
Sdk2	C	A	11: 113,724,005 (GRCm39)	V1222F	probably damaging	Het
Sdr16c6	T	A	4: 4,063,232 (GRCm39)	N181I	possibly damaging	Het
Semp2l2a	A	T	8: 13,887,713 (GRCm39)	M126K	possibly damaging	Het
Serpinb7	A	T	1: 107,356,037 (GRCm39)	D20V	probably damaging	Het
Sh3bp2	C	A	5: 34,718,392 (GRCm39)	R531S	possibly damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Sox2	A	G	3: 34,704,677 (GRCm39)	N38S	probably benign	Het
Spg7	C	A	8: 123,821,314 (GRCm39)	Q680K	possibly damaging	Het
Styk1	T	C	6: 131,277,381 (GRCm39)	E331G	possibly damaging	Het
Tkfc	G	A	19: 10,571,897 (GRCm39)	R380W	probably benign	Het
Trib3	A	G	2: 152,180,410 (GRCm39)	F261S	probably damaging	Het
Ubr1	T	A	2: 120,793,998 (GRCm39)	Q62L	possibly damaging	Het
Vmn2r54	T	C	7: 12,349,296 (GRCm39)	Y762C	probably benign	Het
Vmn2r97	T	A	17: 19,167,628 (GRCm39)	Y627*	probably null	Het
Zfp12	A	G	5: 143,231,451 (GRCm39)	K625E	probably damaging	Het
Zw10	T	C	9: 48,968,950 (GRCm39)	V38A	probably damaging	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
R4727:Ash2l	UTSW	8	26,308,623 (GRCm39)	missense	probably damaging	0.99
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'- TGCAGCCCAATTACTAAATGATCTC -3'
(R):5'- AAGTCTTTGCAGGGCTCAGG -3'

Sequencing Primer
(F):5'- GATCTCATTAAAACTTACACACCTCG -3'
(R):5'- GTGTGTGTTCTACCAGAAACAACAG -3'

Posted On

2016-11-08