Mutagenetix > Incidental Mutation

Incidental Mutation 'R8889:Ash2l'

677562

Institutional Source

Beutler Lab

Gene Symbol

Ash2l

Ensembl Gene

ENSMUSG00000031575

Gene Name

ASH2 like histone lysine methyltransferase complex subunit

Synonyms

MMRRC Submission

068693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26306028-26337722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26313247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 413 (K413R)

Ref Sequence

ENSEMBL: ENSMUSP00000070957 (fasta)

Gene Model

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

AlphaFold

Q91X20

Predicted Effect

probably benign
Transcript: ENSMUST00000068892
AA Change: K413R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
AA Change: K413R

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
AA Change: K324R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575
AA Change: K324R

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: K324R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575
AA Change: K324R

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: K324R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575
AA Change: K324R

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166078
AA Change: K324R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575
AA Change: K324R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Ank1	T	C	8: 23,606,990 (GRCm39)	L1297P	probably damaging	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Cacnb1	A	T	11: 97,901,192 (GRCm39)	V220E	probably damaging	Het
Cacul1	A	T	19: 60,568,960 (GRCm39)	L66Q	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cthrc1	T	A	15: 38,940,445 (GRCm39)	L16H	probably damaging	Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,993,556 (GRCm39)	I852S	probably benign	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Exph5	G	T	9: 53,287,955 (GRCm39)	G1679W	probably damaging	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm10803	G	A	2: 93,394,281 (GRCm39)	D18N	unknown	Het
Gpr152	T	A	19: 4,192,723 (GRCm39)	I88N	probably damaging	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
H2al2a	T	A	2: 18,001,599 (GRCm39)	D29V	probably damaging	Het
Hnrnpf	T	G	6: 117,901,753 (GRCm39)	S346A	probably benign	Het
Hsd11b2	C	T	8: 106,249,263 (GRCm39)	R213C	probably damaging	Het
Il17rd	A	G	14: 26,821,930 (GRCm39)	D552G	possibly damaging	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Klhl14	T	G	18: 21,691,220 (GRCm39)	T437P	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Pate5	T	A	9: 35,750,682 (GRCm39)	T47S	probably damaging	Het
Pcca	A	G	14: 122,795,123 (GRCm39)		probably benign	Het
Plekha8	A	G	6: 54,592,540 (GRCm39)		probably benign	Het
Ptpn14	T	A	1: 189,554,872 (GRCm39)	L144*	probably null	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rdx	C	T	9: 51,997,753 (GRCm39)	R576C	probably damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Robo4	G	T	9: 37,314,601 (GRCm39)	R196L	probably benign	Het
Rsf1	G	GACGTCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Ryr2	A	T	13: 11,799,990 (GRCm39)	V919E	probably damaging	Het
Slc39a6	A	T	18: 24,729,386 (GRCm39)	Y442*	probably null	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Slc7a6	T	A	8: 106,922,534 (GRCm39)	V440E	probably damaging	Het
Sox2	A	T	3: 34,705,129 (GRCm39)	N189Y	possibly damaging	Het
Spata13	A	T	14: 60,994,030 (GRCm39)	M1161L	probably benign	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Tnfaip8	ACACACTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r128	A	G	7: 21,083,740 (GRCm39)	Y148C	possibly damaging	Het
Vmn1r193	T	C	13: 22,403,839 (GRCm39)	Y51C	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Vwa5b1	A	G	4: 138,338,041 (GRCm39)	V93A	probably benign	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	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
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

Predicted Primers

PCR Primer
(F):5'- TTGCAAGCTACTTACAAACTCTCTC -3'
(R):5'- CGGCCCTTTGTGTATGCAGTAC -3'

Sequencing Primer
(F):5'- CAAACTGGCTTCAACTTCAGG -3'
(R):5'- TATGCAGTACAAGGGACTCTGGTC -3'

Posted On

2021-08-02