Mutagenetix > Incidental Mutations

Incidental Mutation 'R7254:Ash1l'

564125

Institutional Source

Beutler Lab

Gene Symbol

Ash1l

Ensembl Gene

ENSMUSG00000028053

Gene Name

ASH1 like histone lysine methyltransferase

Synonyms

chromatin remodeling factor, E430018P19Rik, KMT2H, 8030453L17Rik

MMRRC Submission

Accession Numbers

Genbank: NM_138679; MGI: 2183158

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88950622-89079375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89070509 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 2713 (R2713L)

Ref Sequence

ENSEMBL: ENSMUSP00000088451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090933] [ENSMUST00000186583]

Predicted Effect

probably damaging
Transcript: ENSMUST00000090933
AA Change: R2713L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088451
Gene: ENSMUSG00000028053
AA Change: R2713L

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
internal_repeat_1	238	306	6.88e-12	PROSPERO
internal_repeat_1	306	406	6.88e-12	PROSPERO
low complexity region	552	571	N/A	INTRINSIC
low complexity region	706	717	N/A	INTRINSIC
low complexity region	745	753	N/A	INTRINSIC
low complexity region	777	791	N/A	INTRINSIC
AT_hook	823	835	3.06e2	SMART
low complexity region	859	873	N/A	INTRINSIC
AT_hook	885	897	9.15e0	SMART
low complexity region	938	948	N/A	INTRINSIC
low complexity region	1086	1105	N/A	INTRINSIC
low complexity region	1107	1121	N/A	INTRINSIC
low complexity region	1159	1173	N/A	INTRINSIC
low complexity region	1262	1273	N/A	INTRINSIC
low complexity region	1288	1301	N/A	INTRINSIC
AT_hook	1345	1357	3.09e-1	SMART
low complexity region	1377	1388	N/A	INTRINSIC
low complexity region	1395	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC
low complexity region	1678	1692	N/A	INTRINSIC
AT_hook	1843	1855	1.03e1	SMART
low complexity region	1971	1983	N/A	INTRINSIC
AWS	2081	2133	3.95e-26	SMART
SET	2135	2257	8.04e-45	SMART
PostSET	2259	2275	6.38e-2	SMART
low complexity region	2296	2316	N/A	INTRINSIC
BROMO	2431	2541	8.29e-23	SMART
low complexity region	2549	2563	N/A	INTRINSIC
PHD	2576	2618	8.25e-6	SMART
BAH	2650	2787	1.18e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186583
AA Change: R2713L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140251
Gene: ENSMUSG00000028053
AA Change: R2713L

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
internal_repeat_1	238	306	6.88e-12	PROSPERO
internal_repeat_1	306	406	6.88e-12	PROSPERO
low complexity region	552	571	N/A	INTRINSIC
low complexity region	706	717	N/A	INTRINSIC
low complexity region	745	753	N/A	INTRINSIC
low complexity region	777	791	N/A	INTRINSIC
AT_hook	823	835	3.06e2	SMART
low complexity region	859	873	N/A	INTRINSIC
AT_hook	885	897	9.15e0	SMART
low complexity region	938	948	N/A	INTRINSIC
low complexity region	1086	1105	N/A	INTRINSIC
low complexity region	1107	1121	N/A	INTRINSIC
low complexity region	1159	1173	N/A	INTRINSIC
low complexity region	1262	1273	N/A	INTRINSIC
low complexity region	1288	1301	N/A	INTRINSIC
AT_hook	1345	1357	3.09e-1	SMART
low complexity region	1377	1388	N/A	INTRINSIC
low complexity region	1395	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC
low complexity region	1678	1692	N/A	INTRINSIC
AT_hook	1843	1855	1.03e1	SMART
low complexity region	1971	1983	N/A	INTRINSIC
AWS	2081	2133	3.95e-26	SMART
SET	2135	2257	8.04e-45	SMART
PostSET	2259	2275	6.38e-2	SMART
low complexity region	2296	2316	N/A	INTRINSIC
BROMO	2431	2541	8.29e-23	SMART
low complexity region	2549	2563	N/A	INTRINSIC
PHD	2576	2618	8.25e-6	SMART
BAH	2650	2787	1.18e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a transposon-induced allele are more susceptible to endotoxin shock, sepsis, and autoimmune disease. Homozygotes for a hypomorphic allele show reduced growth and postnatal lethality; surviving adults lack Meibomian glands and show vertebral, reproductive organ, and fertility defects. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,741,976	I677V	probably benign	Het
4931406B18Rik	A	T	7: 43,498,199	D249E	probably damaging	Het
Acacb	A	C	5: 114,209,751		probably null	Het
Adnp	A	G	2: 168,183,998	V459A	probably damaging	Het
Arid3b	T	C	9: 57,796,754	K304E	probably damaging	Het
Bmpr1a	A	C	14: 34,414,763	D490E	probably benign	Het
Cacna1g	A	T	11: 94,432,567	C1270*	probably null	Het
Cep295nl	G	T	11: 118,333,040	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,406,061	I377V	unknown	Het
Creb1	C	T	1: 64,576,277	Q223*	probably null	Het
Ctsc	G	A	7: 88,309,559	G349D	probably damaging	Het
Ddx41	G	A	13: 55,533,956	R311*	probably null	Het
Dse	T	A	10: 34,184,148		probably benign	Het
Eef2k	C	T	7: 120,889,265	H458Y	probably benign	Het
Gipr	A	T	7: 19,163,613	V90E	probably damaging	Het
Gm14412	A	T	2: 177,317,396	D22E	probably damaging	Het
Gm17018	A	G	19: 45,577,034	Q149R	probably benign	Het
Gm21886	A	T	18: 80,089,735	C69*	probably null	Het
Gm5114	G	A	7: 39,408,966	L410F	probably benign	Het
Gmip	T	A	8: 69,816,468		probably null	Het
Gtf2f1	T	C	17: 57,007,101	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,332,575	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,698,374	W107R	probably damaging	Het
Iars	T	C	13: 49,723,078		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331		probably null	Het
Ifi213	G	T	1: 173,593,963	P120Q	probably damaging	Het
Il6	A	T	5: 30,014,908	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,319,487	S196G	probably benign	Het
Kcnv1	C	T	15: 45,113,208	V228I	probably benign	Het
Lars2	A	G	9: 123,454,963	T739A	possibly damaging	Het
Med13	T	C	11: 86,319,835	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,423,491		probably null	Het
Myh9	T	G	15: 77,765,824	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,450,466	S171R	probably benign	Het
Olfr143	T	C	9: 38,253,423	M2T	probably benign	Het
Olfr1467	A	T	19: 13,365,111	D161V	probably benign	Het
Olfr376	A	G	11: 73,375,375	I212V	probably benign	Het
Olfr398	A	G	11: 73,983,777	V277A	probably benign	Het
Olfr564	A	G	7: 102,803,558	T27A	probably benign	Het
Olfr702	A	G	7: 106,823,570	*319Q	probably null	Het
Olfr785	T	C	10: 129,409,780	V138A	probably benign	Het
Pak7	A	T	2: 136,116,764	S135T	possibly damaging	Het
Prr29	A	T	11: 106,374,858	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,594,636	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,695,193	H1310L	probably damaging	Het
Raph1	T	C	1: 60,499,608	S393G	unknown	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ror2	A	G	13: 53,118,720	I303T	possibly damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn10a	C	T	9: 119,618,855	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,993,618	C91S	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tada1	T	A	1: 166,388,648	C139*	probably null	Het
Tbr1	T	A	2: 61,806,042	V254E	probably damaging	Het
Timd4	A	T	11: 46,843,189	I340F	probably benign	Het
Tubb2a	T	C	13: 34,074,532	Y425C	probably damaging	Het
Wdr60	A	G	12: 116,262,585		probably benign	Het
Zfp292	A	T	4: 34,819,476	M287K	probably damaging	Het

Other mutations in Ash1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Ash1l	APN	3	88981712	missense	probably benign	0.19
IGL00819:Ash1l	APN	3	89007736	missense	possibly damaging	0.68
IGL00939:Ash1l	APN	3	89035236	missense	probably damaging	0.99
IGL01064:Ash1l	APN	3	89072484	missense	probably damaging	1.00
IGL01066:Ash1l	APN	3	88984635	missense	probably damaging	1.00
IGL01087:Ash1l	APN	3	89063902	missense	probably damaging	1.00
IGL01293:Ash1l	APN	3	88983529	missense	probably benign	0.01
IGL01541:Ash1l	APN	3	89066265	missense	probably damaging	1.00
IGL01863:Ash1l	APN	3	88985506	nonsense	probably null
IGL02326:Ash1l	APN	3	88966057	missense	probably benign	0.00
IGL02407:Ash1l	APN	3	89072548	missense	probably damaging	1.00
IGL02419:Ash1l	APN	3	88985565	missense	probably benign	0.00
IGL02422:Ash1l	APN	3	89069079	critical splice donor site	probably null
IGL02494:Ash1l	APN	3	89066218	nonsense	probably null
IGL02727:Ash1l	APN	3	89023037	missense	probably benign
IGL02732:Ash1l	APN	3	88966228	missense	probably damaging	1.00
IGL02817:Ash1l	APN	3	88984801	missense	probably damaging	1.00
IGL02887:Ash1l	APN	3	88984181	missense	probably benign	0.11
IGL03224:Ash1l	APN	3	89035268	splice site	probably benign
IGL03253:Ash1l	APN	3	88984674	missense	probably damaging	1.00
IGL03327:Ash1l	APN	3	89023083	missense	probably benign	0.02
IGL03398:Ash1l	APN	3	89007220	missense	probably benign	0.01
3-1:Ash1l	UTSW	3	88966326	missense	probably benign
BB008:Ash1l	UTSW	3	89043541	missense	probably damaging	1.00
BB018:Ash1l	UTSW	3	89043541	missense	probably damaging	1.00
R0068:Ash1l	UTSW	3	89007317	missense	probably benign	0.17
R0068:Ash1l	UTSW	3	89007317	missense	probably benign	0.17
R0239:Ash1l	UTSW	3	89067222	missense	possibly damaging	0.49
R0239:Ash1l	UTSW	3	89067222	missense	possibly damaging	0.49
R0395:Ash1l	UTSW	3	89058589	missense	probably damaging	1.00
R0477:Ash1l	UTSW	3	88983459	missense	probably benign	0.41
R0528:Ash1l	UTSW	3	88982277	missense	probably benign
R0543:Ash1l	UTSW	3	89063778	splice site	probably null
R0855:Ash1l	UTSW	3	89054454	missense	possibly damaging	0.82
R1147:Ash1l	UTSW	3	88984887	missense	possibly damaging	0.72
R1147:Ash1l	UTSW	3	88984887	missense	possibly damaging	0.72
R1163:Ash1l	UTSW	3	89035263	critical splice donor site	probably null
R1196:Ash1l	UTSW	3	88983316	missense	probably damaging	0.99
R1419:Ash1l	UTSW	3	88984897	missense	probably damaging	0.99
R1445:Ash1l	UTSW	3	89007352	missense	probably benign	0.02
R1466:Ash1l	UTSW	3	89052065	missense	probably damaging	1.00
R1466:Ash1l	UTSW	3	89052065	missense	probably damaging	1.00
R1480:Ash1l	UTSW	3	88985052	missense	probably damaging	1.00
R1506:Ash1l	UTSW	3	89058499	missense	probably damaging	0.99
R1537:Ash1l	UTSW	3	89072476	missense	probably damaging	0.99
R1584:Ash1l	UTSW	3	89052065	missense	probably damaging	1.00
R1669:Ash1l	UTSW	3	89067242	critical splice donor site	probably null
R1713:Ash1l	UTSW	3	89076224	missense	probably damaging	1.00
R1780:Ash1l	UTSW	3	88965984	missense	probably benign
R1793:Ash1l	UTSW	3	89070309	missense	probably damaging	1.00
R1881:Ash1l	UTSW	3	88981555	missense	probably benign	0.00
R1909:Ash1l	UTSW	3	88984528	missense	probably benign	0.29
R1938:Ash1l	UTSW	3	88984422	missense	probably damaging	0.98
R2035:Ash1l	UTSW	3	89066317	missense	probably benign	0.00
R2070:Ash1l	UTSW	3	88966203	missense	probably damaging	1.00
R2071:Ash1l	UTSW	3	88966203	missense	probably damaging	1.00
R2114:Ash1l	UTSW	3	88983264	missense	probably benign	0.00
R2116:Ash1l	UTSW	3	88983264	missense	probably benign	0.00
R2118:Ash1l	UTSW	3	88985295	missense	possibly damaging	0.80
R2143:Ash1l	UTSW	3	88985419	missense	probably benign	0.09
R2164:Ash1l	UTSW	3	88985419	missense	probably benign	0.09
R2210:Ash1l	UTSW	3	89066298	missense	probably damaging	1.00
R2247:Ash1l	UTSW	3	89007367	missense	possibly damaging	0.77
R2303:Ash1l	UTSW	3	89026426	missense	probably damaging	1.00
R2860:Ash1l	UTSW	3	89054478	missense	probably damaging	1.00
R2861:Ash1l	UTSW	3	89054478	missense	probably damaging	1.00
R3104:Ash1l	UTSW	3	89054386	missense	probably damaging	1.00
R4133:Ash1l	UTSW	3	88982260	missense	probably benign	0.00
R4164:Ash1l	UTSW	3	88981966	missense	probably damaging	0.97
R4270:Ash1l	UTSW	3	88982040	missense	probably benign	0.26
R4271:Ash1l	UTSW	3	88982040	missense	probably benign	0.26
R4287:Ash1l	UTSW	3	89066415	missense	probably damaging	0.99
R4409:Ash1l	UTSW	3	89007199	missense	probably damaging	0.99
R4459:Ash1l	UTSW	3	88966234	missense	probably damaging	0.99
R4487:Ash1l	UTSW	3	88985315	missense	possibly damaging	0.65
R4674:Ash1l	UTSW	3	89072476	missense	possibly damaging	0.80
R4739:Ash1l	UTSW	3	88982845	missense	probably benign	0.19
R4927:Ash1l	UTSW	3	88985334	missense	probably damaging	1.00
R5000:Ash1l	UTSW	3	89058634	missense	probably damaging	1.00
R5016:Ash1l	UTSW	3	88982323	missense	probably damaging	1.00
R5055:Ash1l	UTSW	3	89023212	critical splice donor site	probably null
R5081:Ash1l	UTSW	3	88984717	missense	probably damaging	1.00
R5082:Ash1l	UTSW	3	88966234	missense	probably damaging	0.99
R5090:Ash1l	UTSW	3	89052877	missense	probably damaging	1.00
R5113:Ash1l	UTSW	3	89066275	missense	probably damaging	0.99
R5408:Ash1l	UTSW	3	88982394	missense	probably damaging	1.00
R5452:Ash1l	UTSW	3	88984876	missense	possibly damaging	0.93
R5487:Ash1l	UTSW	3	88981426	missense	probably benign	0.17
R5610:Ash1l	UTSW	3	89023185	missense	probably damaging	1.00
R5624:Ash1l	UTSW	3	88985609	missense	probably damaging	1.00
R5682:Ash1l	UTSW	3	89007607	missense	probably damaging	0.99
R5712:Ash1l	UTSW	3	89051990	missense	probably damaging	0.99
R5719:Ash1l	UTSW	3	89054498	missense	possibly damaging	0.83
R5719:Ash1l	UTSW	3	89058626	missense	probably damaging	1.00
R5839:Ash1l	UTSW	3	88983351	missense	probably damaging	0.99
R5859:Ash1l	UTSW	3	89068993	missense	probably damaging	1.00
R5877:Ash1l	UTSW	3	88981584	missense	probably benign	0.00
R5940:Ash1l	UTSW	3	88984036	missense	probably damaging	0.96
R6026:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6027:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6029:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6033:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6033:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6034:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6034:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6035:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6035:Ash1l	UTSW	3	88985019	missense	probably damaging	1.00
R6089:Ash1l	UTSW	3	89053143	nonsense	probably null
R6110:Ash1l	UTSW	3	88985129	missense	probably damaging	1.00
R6168:Ash1l	UTSW	3	89052773	nonsense	probably null
R6200:Ash1l	UTSW	3	89070527	missense	probably damaging	1.00
R6290:Ash1l	UTSW	3	88982761	nonsense	probably null
R6331:Ash1l	UTSW	3	89007865	missense	probably benign	0.00
R6425:Ash1l	UTSW	3	88983780	missense	probably damaging	0.99
R6540:Ash1l	UTSW	3	88985061	missense	probably damaging	1.00
R6568:Ash1l	UTSW	3	89052037	missense	probably benign	0.09
R6828:Ash1l	UTSW	3	89076113	missense	probably benign	0.00
R6843:Ash1l	UTSW	3	88985388	missense	probably damaging	1.00
R6894:Ash1l	UTSW	3	88982991	missense	probably benign	0.00
R6976:Ash1l	UTSW	3	88981657	missense	possibly damaging	0.77
R7038:Ash1l	UTSW	3	88982671	missense	probably benign	0.00
R7073:Ash1l	UTSW	3	88985340	missense	probably damaging	1.00
R7133:Ash1l	UTSW	3	88983457	frame shift	probably null
R7150:Ash1l	UTSW	3	89077074	missense	probably damaging	1.00
R7205:Ash1l	UTSW	3	88965952	missense	probably benign	0.00
R7272:Ash1l	UTSW	3	89054634	splice site	probably null
R7288:Ash1l	UTSW	3	88965892	start gained	probably benign
R7319:Ash1l	UTSW	3	88981387	missense	probably benign	0.19
R7341:Ash1l	UTSW	3	88981759	missense	possibly damaging	0.93
R7342:Ash1l	UTSW	3	88965997	missense	possibly damaging	0.94
R7454:Ash1l	UTSW	3	88983865	missense	probably benign	0.16
R7677:Ash1l	UTSW	3	89043193	missense	probably damaging	1.00
R7822:Ash1l	UTSW	3	89007264	missense	probably benign
R7857:Ash1l	UTSW	3	88984309	nonsense	probably null
R7889:Ash1l	UTSW	3	88966038	missense	probably benign	0.00
R7898:Ash1l	UTSW	3	88983625	missense	possibly damaging	0.54
R7931:Ash1l	UTSW	3	89043541	missense	probably damaging	1.00
R7937:Ash1l	UTSW	3	89070317	nonsense	probably null
R7973:Ash1l	UTSW	3	89052857	missense	probably benign
R8119:Ash1l	UTSW	3	89035427	missense	probably damaging	1.00
R8157:Ash1l	UTSW	3	89063707	critical splice donor site	probably null
R8162:Ash1l	UTSW	3	89070246	missense	probably damaging	0.99
R8194:Ash1l	UTSW	3	89052755	missense	probably damaging	1.00
R8306:Ash1l	UTSW	3	88965952	missense	probably benign	0.00
X0017:Ash1l	UTSW	3	88984585	missense	probably benign	0.45
X0019:Ash1l	UTSW	3	89070556	missense	probably damaging	1.00
X0021:Ash1l	UTSW	3	88983204	missense	probably benign	0.10
Z1088:Ash1l	UTSW	3	88982709	missense	probably benign	0.00
Z1176:Ash1l	UTSW	3	89043217	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGACTCTTATCTCACATTAACCGAG -3'
(R):5'- TCTCCAGTGGCAAAGTTACCTC -3'

Sequencing Primer
(F):5'- TGACATCTTTAGAATCGAGAAGCTC -3'
(R):5'- GTGGCAAAGTTACCTCCTAACAAG -3'

Posted On

2019-06-26