Mutagenetix > Incidental Mutations

Incidental Mutation 'R7069:Ep400'

548741

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

mDomino, 1700020J09Rik, p400

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7069 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110664373-110770717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110668124 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2724 (V2724A)

Ref Sequence

ENSEMBL: ENSMUSP00000108054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041558] [ENSMUST00000112435] [ENSMUST00000112436]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041558
AA Change: V2850A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
AA Change: V2850A

Domain	Start	End	E-Value	Type
Pfam:EP400_N	1	461	1.6e-232	PFAM
low complexity region	519	532	N/A	INTRINSIC
low complexity region	550	561	N/A	INTRINSIC
low complexity region	598	620	N/A	INTRINSIC
low complexity region	631	645	N/A	INTRINSIC
low complexity region	658	686	N/A	INTRINSIC
HSA	762	833	1.31e-31	SMART
low complexity region	908	925	N/A	INTRINSIC
DEXDc	1049	1238	2.76e-15	SMART
Blast:DEXDc	1276	1317	2e-15	BLAST
low complexity region	1407	1417	N/A	INTRINSIC
HELICc	1807	1893	1.17e-4	SMART
low complexity region	2006	2019	N/A	INTRINSIC
low complexity region	2080	2100	N/A	INTRINSIC
low complexity region	2214	2223	N/A	INTRINSIC
SANT	2243	2310	3.57e-1	SMART
low complexity region	2402	2489	N/A	INTRINSIC
low complexity region	2596	2608	N/A	INTRINSIC
low complexity region	2644	2679	N/A	INTRINSIC
low complexity region	2694	2738	N/A	INTRINSIC
low complexity region	2769	2806	N/A	INTRINSIC
low complexity region	2846	2883	N/A	INTRINSIC
low complexity region	2933	2947	N/A	INTRINSIC
low complexity region	2974	2986	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112435
AA Change: V2724A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
AA Change: V2724A

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	262	287	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	313	329	N/A	INTRINSIC
coiled coil region	418	447	N/A	INTRINSIC
low complexity region	471	485	N/A	INTRINSIC
low complexity region	556	569	N/A	INTRINSIC
low complexity region	587	598	N/A	INTRINSIC
low complexity region	635	657	N/A	INTRINSIC
low complexity region	668	682	N/A	INTRINSIC
low complexity region	695	723	N/A	INTRINSIC
HSA	799	870	1.31e-31	SMART
low complexity region	945	962	N/A	INTRINSIC
DEXDc	1086	1275	2.76e-15	SMART
Blast:DEXDc	1313	1354	2e-15	BLAST
low complexity region	1444	1454	N/A	INTRINSIC
internal_repeat_1	1556	1646	6.82e-5	PROSPERO
low complexity region	1887	1900	N/A	INTRINSIC
low complexity region	1961	1981	N/A	INTRINSIC
low complexity region	2095	2104	N/A	INTRINSIC
SANT	2124	2191	3.57e-1	SMART
low complexity region	2283	2370	N/A	INTRINSIC
internal_repeat_1	2371	2463	6.82e-5	PROSPERO
low complexity region	2477	2489	N/A	INTRINSIC
low complexity region	2525	2560	N/A	INTRINSIC
low complexity region	2575	2619	N/A	INTRINSIC
low complexity region	2645	2659	N/A	INTRINSIC
low complexity region	2660	2680	N/A	INTRINSIC
low complexity region	2720	2757	N/A	INTRINSIC
low complexity region	2807	2821	N/A	INTRINSIC
low complexity region	2848	2860	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112436
AA Change: V2814A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
AA Change: V2814A

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	262	287	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
low complexity region	313	329	N/A	INTRINSIC
coiled coil region	418	449	N/A	INTRINSIC
low complexity region	472	482	N/A	INTRINSIC
low complexity region	483	496	N/A	INTRINSIC
low complexity region	514	525	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC
low complexity region	595	609	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
HSA	726	797	1.31e-31	SMART
low complexity region	872	889	N/A	INTRINSIC
DEXDc	1013	1202	2.76e-15	SMART
Blast:DEXDc	1240	1281	2e-15	BLAST
low complexity region	1371	1381	N/A	INTRINSIC
internal_repeat_1	1483	1573	6.76e-5	PROSPERO
HELICc	1771	1857	1.17e-4	SMART
low complexity region	1970	1983	N/A	INTRINSIC
low complexity region	2044	2064	N/A	INTRINSIC
low complexity region	2178	2187	N/A	INTRINSIC
SANT	2207	2274	3.57e-1	SMART
low complexity region	2366	2453	N/A	INTRINSIC
internal_repeat_1	2454	2546	6.76e-5	PROSPERO
low complexity region	2560	2572	N/A	INTRINSIC
low complexity region	2608	2643	N/A	INTRINSIC
low complexity region	2658	2702	N/A	INTRINSIC
low complexity region	2733	2770	N/A	INTRINSIC
low complexity region	2810	2847	N/A	INTRINSIC
low complexity region	2897	2911	N/A	INTRINSIC
low complexity region	2938	2950	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184384

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (86/88)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die at E11.5 and display severe defects in yolk sac erythropoiesis, anemia, and a slight deformity of the neural tube. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,631,901	F97Y	probably damaging	Het
4932415D10Rik	G	A	10: 82,289,943	T2411I	probably damaging	Het
Aasdh	T	A	5: 76,876,356	I991L	probably benign	Het
Actg2	C	A	6: 83,520,763	G96V	probably damaging	Het
Adh5	T	A	3: 138,451,051	L166*	probably null	Het
Akap13	A	G	7: 75,610,262	D75G	probably benign	Het
Ank2	T	C	3: 126,946,298		probably benign	Het
Arfgap1	T	A	2: 180,974,120	D197E	probably benign	Het
Aste1	T	C	9: 105,396,707		probably null	Het
Atp8b2	T	A	3: 89,954,571	N78I	probably damaging	Het
Btbd11	C	A	10: 85,387,656	R110S	unknown	Het
Cacna2d3	T	A	14: 28,969,303		probably benign	Het
Chrd	T	A	16: 20,739,433	W809R	probably damaging	Het
Col2a1	C	T	15: 97,998,588	G60D	unknown	Het
Coro7	T	A	16: 4,679,611	M1L	probably damaging	Het
Dhx40	T	C	11: 86,797,743	I285V	probably benign	Het
Dopey1	T	C	9: 86,550,169		probably null	Het
Enox1	A	T	14: 77,611,324	R358S	probably damaging	Het
Fam196b	T	A	11: 34,402,677	C240S	possibly damaging	Het
Fam221a	A	C	6: 49,378,498	Q178P	probably damaging	Het
Fcho1	A	C	8: 71,710,497		probably null	Het
Fndc1	A	T	17: 7,769,735	V1165D	unknown	Het
Gal3st2b	A	T	1: 93,940,619	N189Y	possibly damaging	Het
Ghr	T	A	15: 3,320,484	D404V	probably damaging	Het
Glis3	A	T	19: 28,531,519	V355D	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm21671	A	T	5: 25,949,844	S253T	possibly damaging	Het
Gpr12	A	C	5: 146,583,539	V32G	possibly damaging	Het
Gspt1	T	A	16: 11,222,661	L593F	probably damaging	Het
H2-Q7	A	T	17: 35,440,031	T153S	probably damaging	Het
Hars2	A	G	18: 36,787,956	I194V	probably damaging	Het
Hdac9	T	A	12: 34,429,549	T202S	possibly damaging	Het
Hoxd13	T	C	2: 74,669,024	Y239H	probably damaging	Het
Insm2	C	T	12: 55,599,836	Q122*	probably null	Het
Ip6k1	T	A	9: 108,045,452		probably null	Het
Ippk	T	C	13: 49,461,743	V534A	probably damaging	Het
Itch	T	G	2: 155,209,994	F611C	probably damaging	Het
Itga1	A	T	13: 114,968,240	N1083K	probably damaging	Het
Itgae	A	C	11: 73,116,143	D405A	probably damaging	Het
Kif18a	T	C	2: 109,295,002	S255P	probably damaging	Het
Klhl24	C	G	16: 20,107,481	T253R	probably benign	Het
Krt81	T	A	15: 101,460,728	T307S	possibly damaging	Het
Lbr	A	T	1: 181,828,789	W265R	probably damaging	Het
Lgals3bp	T	C	11: 118,393,173	T527A	probably benign	Het
Lzts1	A	C	8: 69,140,745	V70G	probably damaging	Het
Map3k6	C	T	4: 133,251,712	P1154S	probably benign	Het
Masp1	T	C	16: 23,452,455	D681G	probably benign	Het
Mdga2	T	C	12: 66,486,752	N948D	probably benign	Het
Mettl4	A	T	17: 94,733,633	F364L	probably damaging	Het
Mosmo	T	C	7: 120,677,832	I23T	probably benign	Het
Mtg1	G	A	7: 140,143,744	V96I	probably benign	Het
Myh11	T	A	16: 14,218,939	R966S	possibly damaging	Het
Ncapg2	A	G	12: 116,424,717		probably null	Het
Nid1	G	A	13: 13,508,768	V1144I	probably benign	Het
Olfr1250	T	C	2: 89,656,566	I292V	probably benign	Het
Olfr544	C	A	7: 102,484,772	C116F	possibly damaging	Het
Olfr622	A	T	7: 103,639,960	M60K	probably damaging	Het
Oscar	T	G	7: 3,611,239	Y167S	probably damaging	Het
Pa2g4	T	C	10: 128,560,690	T200A	probably benign	Het
Pcdh7	A	G	5: 57,719,784	D227G	probably benign	Het
Plce1	G	A	19: 38,758,940	G1702R	probably damaging	Het
Plxna2	C	A	1: 194,793,904	T1144K	possibly damaging	Het
Prl8a8	G	A	13: 27,511,467	T99I	probably benign	Het
Prr29	C	A	11: 106,376,259	H83Q	probably damaging	Het
Raly	T	A	2: 154,859,744	I108N	possibly damaging	Het
Ranbp9	A	T	13: 43,419,622	S475R	probably benign	Het
Rogdi	C	A	16: 5,013,498		probably benign	Het
Rorc	C	T	3: 94,372,907	Q6*	probably null	Het
Sacs	T	C	14: 61,212,496	L3997S	probably damaging	Het
Scn2a	A	T	2: 65,764,606	Y1933F	probably benign	Het
Sik3	T	C	9: 46,210,743	L898P	probably damaging	Het
Sipa1l1	A	G	12: 82,341,406	I135M	probably damaging	Het
Slc26a3	C	A	12: 31,450,935	Q224K	probably damaging	Het
Sobp	G	T	10: 43,021,440	N716K	probably benign	Het
Spata16	A	G	3: 26,927,334	D513G	probably damaging	Het
Stac	T	C	9: 111,572,326	R351G	possibly damaging	Het
Tecta	T	A	9: 42,394,941	T64S	probably benign	Het
Tert	G	A	13: 73,628,410	V427M	probably damaging	Het
Tex15	G	A	8: 33,570,720	M333I	probably benign	Het
Tmbim4	A	T	10: 120,220,759	Q72L	probably benign	Het
Trav9n-4	T	C	14: 53,294,799	S37P	probably benign	Het
Trpv5	A	T	6: 41,675,960	M93K	possibly damaging	Het
Ulk4	T	C	9: 121,258,810	E272G	probably benign	Het
Ulk4	T	C	9: 121,266,517	T79A	probably benign	Het
Upb1	A	G	10: 75,412,768	N41D	probably benign	Het
Wls	A	T	3: 159,934,329	Y532F	probably damaging	Het
Zdhhc5	G	A	2: 84,715,011		probably benign	Het
Zfp109	T	C	7: 24,229,360	D216G	probably benign	Het
Zfp473	G	A	7: 44,732,374	A845V	probably damaging	Het

Other mutations in Ep400

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ep400	APN	5	110687841	missense	unknown
IGL00585:Ep400	APN	5	110755905	missense	possibly damaging	0.70
IGL00586:Ep400	APN	5	110739594	missense	probably damaging	1.00
IGL00816:Ep400	APN	5	110735490	unclassified	probably benign
IGL01066:Ep400	APN	5	110668199	splice site	probably benign
IGL01302:Ep400	APN	5	110742048	missense	probably benign	0.00
IGL01568:Ep400	APN	5	110719495	missense	unknown
IGL01833:Ep400	APN	5	110680008	missense	unknown
IGL02086:Ep400	APN	5	110676943	splice site	probably benign
IGL02266:Ep400	APN	5	110695297	unclassified	probably benign
IGL02288:Ep400	APN	5	110683836	splice site	probably benign
IGL02301:Ep400	APN	5	110674960	missense	probably damaging	1.00
IGL02377:Ep400	APN	5	110720825	missense	unknown
IGL02382:Ep400	APN	5	110701728	missense	unknown
IGL02419:Ep400	APN	5	110697376	splice site	probably null
IGL02591:Ep400	APN	5	110733772	unclassified	probably benign
IGL02981:Ep400	APN	5	110756103	missense	possibly damaging	0.79
IGL02981:Ep400	APN	5	110691610	splice site	probably benign
IGL03173:Ep400	APN	5	110708871	unclassified	probably benign
IGL03244:Ep400	APN	5	110727563	missense	unknown
IGL03333:Ep400	APN	5	110703566	missense	unknown
santol	UTSW	5	110701671	missense	unknown
PIT4243001:Ep400	UTSW	5	110735580	missense	unknown
PIT4260001:Ep400	UTSW	5	110693171	nonsense	probably null
R0017:Ep400	UTSW	5	110673529	missense	probably damaging	1.00
R0179:Ep400	UTSW	5	110668649	missense	probably damaging	0.99
R0243:Ep400	UTSW	5	110724407	splice site	probably benign
R0366:Ep400	UTSW	5	110701671	missense	unknown
R0508:Ep400	UTSW	5	110739508	missense	probably benign	0.00
R0541:Ep400	UTSW	5	110705016	missense	unknown
R0558:Ep400	UTSW	5	110685067	splice site	probably benign
R0576:Ep400	UTSW	5	110711093	unclassified	probably benign
R0595:Ep400	UTSW	5	110703542	missense	unknown
R0671:Ep400	UTSW	5	110688196	missense	unknown
R0763:Ep400	UTSW	5	110665837	missense	probably damaging	1.00
R1078:Ep400	UTSW	5	110735522	unclassified	probably benign
R1300:Ep400	UTSW	5	110673560	missense	probably damaging	1.00
R1439:Ep400	UTSW	5	110685478	missense	unknown
R1520:Ep400	UTSW	5	110691778	intron	probably benign
R1529:Ep400	UTSW	5	110739445	missense	probably benign	0.00
R1535:Ep400	UTSW	5	110708166	unclassified	probably benign
R1560:Ep400	UTSW	5	110671106	splice site	probably null
R1587:Ep400	UTSW	5	110726902	missense	probably benign	0.23
R1596:Ep400	UTSW	5	110708861	unclassified	probably benign
R1653:Ep400	UTSW	5	110693174	nonsense	probably null
R1711:Ep400	UTSW	5	110693308	unclassified	probably benign
R1774:Ep400	UTSW	5	110685491	missense	unknown
R1836:Ep400	UTSW	5	110705054	missense	unknown
R1905:Ep400	UTSW	5	110670948	missense	probably damaging	1.00
R1917:Ep400	UTSW	5	110703575	missense	unknown
R2064:Ep400	UTSW	5	110735404	unclassified	probably benign
R2122:Ep400	UTSW	5	110708850	unclassified	probably benign
R2144:Ep400	UTSW	5	110703518	missense	unknown
R2215:Ep400	UTSW	5	110693555	unclassified	probably benign
R2252:Ep400	UTSW	5	110719091	missense	unknown
R2253:Ep400	UTSW	5	110719091	missense	unknown
R2483:Ep400	UTSW	5	110719236	missense	unknown
R2504:Ep400	UTSW	5	110668645	missense	probably damaging	1.00
R2512:Ep400	UTSW	5	110708915	unclassified	probably benign
R2842:Ep400	UTSW	5	110698815	nonsense	probably null
R2920:Ep400	UTSW	5	110755914	missense	probably damaging	1.00
R3082:Ep400	UTSW	5	110693230	unclassified	probably benign
R3151:Ep400	UTSW	5	110703569	missense	unknown
R3552:Ep400	UTSW	5	110729287	missense	unknown
R3623:Ep400	UTSW	5	110719236	missense	unknown
R3779:Ep400	UTSW	5	110691649	missense	unknown
R3923:Ep400	UTSW	5	110756523	missense	possibly damaging	0.55
R4062:Ep400	UTSW	5	110741981	missense	probably benign	0.10
R4508:Ep400	UTSW	5	110703615	missense	unknown
R4584:Ep400	UTSW	5	110733897	unclassified	probably benign
R4585:Ep400	UTSW	5	110753859	missense	probably damaging	1.00
R4586:Ep400	UTSW	5	110753859	missense	probably damaging	1.00
R4807:Ep400	UTSW	5	110695578	intron	probably null
R4921:Ep400	UTSW	5	110665810	missense	probably damaging	1.00
R4976:Ep400	UTSW	5	110698812	missense	unknown
R4976:Ep400	UTSW	5	110720756	missense	unknown
R5075:Ep400	UTSW	5	110685485	missense	unknown
R5120:Ep400	UTSW	5	110756358	missense	probably damaging	1.00
R5122:Ep400	UTSW	5	110668170	missense	probably damaging	1.00
R5223:Ep400	UTSW	5	110668630	missense	probably damaging	1.00
R5284:Ep400	UTSW	5	110668124	missense	probably damaging	1.00
R5388:Ep400	UTSW	5	110701728	missense	unknown
R5401:Ep400	UTSW	5	110683171	missense	unknown
R5431:Ep400	UTSW	5	110676554	missense	unknown
R5461:Ep400	UTSW	5	110676684	nonsense	probably null
R5568:Ep400	UTSW	5	110756205	missense	probably damaging	1.00
R5650:Ep400	UTSW	5	110695952	critical splice donor site	probably null
R5778:Ep400	UTSW	5	110719584	missense	unknown
R5806:Ep400	UTSW	5	110755554	nonsense	probably null
R5814:Ep400	UTSW	5	110695578	intron	probably null
R5830:Ep400	UTSW	5	110683996	missense	unknown
R5882:Ep400	UTSW	5	110755587	missense	probably benign	0.00
R5931:Ep400	UTSW	5	110735520	unclassified	probably benign
R5945:Ep400	UTSW	5	110682866	missense	unknown
R5966:Ep400	UTSW	5	110676900	missense	unknown
R5973:Ep400	UTSW	5	110729831	missense	unknown
R5980:Ep400	UTSW	5	110733729	unclassified	probably benign
R6000:Ep400	UTSW	5	110683201	missense	unknown
R6006:Ep400	UTSW	5	110704959	missense	unknown
R6053:Ep400	UTSW	5	110755795	missense	probably benign	0.22
R6145:Ep400	UTSW	5	110756703	missense	possibly damaging	0.95
R6154:Ep400	UTSW	5	110755933	missense	probably damaging	0.97
R6169:Ep400	UTSW	5	110741997	missense	possibly damaging	0.83
R6228:Ep400	UTSW	5	110670942	missense	probably damaging	1.00
R6295:Ep400	UTSW	5	110753809	missense	probably benign	0.00
R6486:Ep400	UTSW	5	110697218	unclassified	probably benign
R6504:Ep400	UTSW	5	110708837	unclassified	probably benign
R6607:Ep400	UTSW	5	110683314	missense	unknown
R6657:Ep400	UTSW	5	110693545	unclassified	probably benign
R6660:Ep400	UTSW	5	110719447	nonsense	probably null
R6741:Ep400	UTSW	5	110676895	missense	unknown
R6933:Ep400	UTSW	5	110665862	missense	probably damaging	1.00
R6937:Ep400	UTSW	5	110711152	unclassified	probably benign
R7103:Ep400	UTSW	5	110733785	missense	unknown
R7156:Ep400	UTSW	5	110685363	missense	unknown
R7272:Ep400	UTSW	5	110755645	nonsense	probably null
R7365:Ep400	UTSW	5	110719614	missense	unknown
R7581:Ep400	UTSW	5	110756025	missense	unknown
R7684:Ep400	UTSW	5	110697352	missense	unknown
R7699:Ep400	UTSW	5	110696032	missense	unknown
R7700:Ep400	UTSW	5	110696032	missense	unknown
X0012:Ep400	UTSW	5	110673196	small deletion	probably benign
X0021:Ep400	UTSW	5	110682864	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAGACACTGAGCACATTAGC -3'
(R):5'- AGCACAATGTATACCTAGAGCCTG -3'

Sequencing Primer
(F):5'- GCACATTAGCACCTCCAGCTTG -3'
(R):5'- CAATGTATACCTAGAGCCTGCTTAG -3'

Posted On

2019-05-13