Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Ep400'

406147

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

1700020J09Rik, p400, mDomino

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4807 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110812239-110918583 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 110843444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108055 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000041558

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505

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 null
Transcript: ENSMUST00000041558

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505

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

noncoding transcript
Transcript: ENSMUST00000104066

Predicted Effect

probably null
Transcript: ENSMUST00000112435

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505

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 null
Transcript: ENSMUST00000112436

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505

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

probably null
Transcript: ENSMUST00000112436

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505

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

probably benign
Transcript: ENSMUST00000125325

SMART Domains

Protein: ENSMUSP00000116137
Gene: ENSMUSG00000029505

Domain	Start	End	E-Value	Type
low complexity region	107	117	N/A	INTRINSIC
low complexity region	223	239	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141986

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	Het

Other mutations in Ep400

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ep400	APN	5	110,835,707 (GRCm39)	missense	unknown
IGL00585:Ep400	APN	5	110,903,771 (GRCm39)	missense	possibly damaging	0.70
IGL00586:Ep400	APN	5	110,887,460 (GRCm39)	missense	probably damaging	1.00
IGL00816:Ep400	APN	5	110,883,356 (GRCm39)	unclassified	probably benign
IGL01066:Ep400	APN	5	110,816,065 (GRCm39)	splice site	probably benign
IGL01302:Ep400	APN	5	110,889,914 (GRCm39)	missense	probably benign	0.00
IGL01568:Ep400	APN	5	110,867,361 (GRCm39)	missense	unknown
IGL01833:Ep400	APN	5	110,827,874 (GRCm39)	missense	unknown
IGL02086:Ep400	APN	5	110,824,809 (GRCm39)	splice site	probably benign
IGL02266:Ep400	APN	5	110,843,163 (GRCm39)	unclassified	probably benign
IGL02288:Ep400	APN	5	110,831,702 (GRCm39)	splice site	probably benign
IGL02301:Ep400	APN	5	110,822,826 (GRCm39)	missense	probably damaging	1.00
IGL02377:Ep400	APN	5	110,868,691 (GRCm39)	missense	unknown
IGL02382:Ep400	APN	5	110,849,594 (GRCm39)	missense	unknown
IGL02419:Ep400	APN	5	110,845,242 (GRCm39)	splice site	probably null
IGL02591:Ep400	APN	5	110,881,638 (GRCm39)	unclassified	probably benign
IGL02981:Ep400	APN	5	110,839,476 (GRCm39)	splice site	probably benign
IGL02981:Ep400	APN	5	110,903,969 (GRCm39)	missense	possibly damaging	0.79
IGL03173:Ep400	APN	5	110,856,737 (GRCm39)	unclassified	probably benign
IGL03244:Ep400	APN	5	110,875,429 (GRCm39)	missense	unknown
IGL03333:Ep400	APN	5	110,851,432 (GRCm39)	missense	unknown
santol	UTSW	5	110,849,537 (GRCm39)	missense	unknown
PIT4243001:Ep400	UTSW	5	110,883,446 (GRCm39)	missense	unknown
PIT4260001:Ep400	UTSW	5	110,841,037 (GRCm39)	nonsense	probably null
R0017:Ep400	UTSW	5	110,821,395 (GRCm39)	missense	probably damaging	1.00
R0179:Ep400	UTSW	5	110,816,515 (GRCm39)	missense	probably damaging	0.99
R0243:Ep400	UTSW	5	110,872,273 (GRCm39)	splice site	probably benign
R0366:Ep400	UTSW	5	110,849,537 (GRCm39)	missense	unknown
R0508:Ep400	UTSW	5	110,887,374 (GRCm39)	missense	probably benign	0.00
R0541:Ep400	UTSW	5	110,852,882 (GRCm39)	missense	unknown
R0558:Ep400	UTSW	5	110,832,933 (GRCm39)	splice site	probably benign
R0576:Ep400	UTSW	5	110,858,959 (GRCm39)	unclassified	probably benign
R0595:Ep400	UTSW	5	110,851,408 (GRCm39)	missense	unknown
R0671:Ep400	UTSW	5	110,836,062 (GRCm39)	missense	unknown
R0763:Ep400	UTSW	5	110,813,703 (GRCm39)	missense	probably damaging	1.00
R1078:Ep400	UTSW	5	110,883,388 (GRCm39)	unclassified	probably benign
R1300:Ep400	UTSW	5	110,821,426 (GRCm39)	missense	probably damaging	1.00
R1439:Ep400	UTSW	5	110,833,344 (GRCm39)	missense	unknown
R1520:Ep400	UTSW	5	110,839,644 (GRCm39)	intron	probably benign
R1529:Ep400	UTSW	5	110,887,311 (GRCm39)	missense	probably benign	0.00
R1535:Ep400	UTSW	5	110,856,032 (GRCm39)	unclassified	probably benign
R1560:Ep400	UTSW	5	110,818,972 (GRCm39)	splice site	probably null
R1587:Ep400	UTSW	5	110,874,768 (GRCm39)	missense	probably benign	0.23
R1596:Ep400	UTSW	5	110,856,727 (GRCm39)	unclassified	probably benign
R1653:Ep400	UTSW	5	110,841,040 (GRCm39)	nonsense	probably null
R1711:Ep400	UTSW	5	110,841,174 (GRCm39)	unclassified	probably benign
R1774:Ep400	UTSW	5	110,833,357 (GRCm39)	missense	unknown
R1836:Ep400	UTSW	5	110,852,920 (GRCm39)	missense	unknown
R1905:Ep400	UTSW	5	110,818,814 (GRCm39)	missense	probably damaging	1.00
R1917:Ep400	UTSW	5	110,851,441 (GRCm39)	missense	unknown
R2064:Ep400	UTSW	5	110,883,270 (GRCm39)	unclassified	probably benign
R2122:Ep400	UTSW	5	110,856,716 (GRCm39)	unclassified	probably benign
R2144:Ep400	UTSW	5	110,851,384 (GRCm39)	missense	unknown
R2215:Ep400	UTSW	5	110,841,421 (GRCm39)	unclassified	probably benign
R2252:Ep400	UTSW	5	110,866,957 (GRCm39)	missense	unknown
R2253:Ep400	UTSW	5	110,866,957 (GRCm39)	missense	unknown
R2483:Ep400	UTSW	5	110,867,102 (GRCm39)	missense	unknown
R2504:Ep400	UTSW	5	110,816,511 (GRCm39)	missense	probably damaging	1.00
R2512:Ep400	UTSW	5	110,856,781 (GRCm39)	unclassified	probably benign
R2842:Ep400	UTSW	5	110,846,681 (GRCm39)	nonsense	probably null
R2920:Ep400	UTSW	5	110,903,780 (GRCm39)	missense	probably damaging	1.00
R3082:Ep400	UTSW	5	110,841,096 (GRCm39)	unclassified	probably benign
R3151:Ep400	UTSW	5	110,851,435 (GRCm39)	missense	unknown
R3552:Ep400	UTSW	5	110,877,153 (GRCm39)	missense	unknown
R3623:Ep400	UTSW	5	110,867,102 (GRCm39)	missense	unknown
R3779:Ep400	UTSW	5	110,839,515 (GRCm39)	missense	unknown
R3923:Ep400	UTSW	5	110,904,389 (GRCm39)	missense	possibly damaging	0.55
R4062:Ep400	UTSW	5	110,889,847 (GRCm39)	missense	probably benign	0.10
R4508:Ep400	UTSW	5	110,851,481 (GRCm39)	missense	unknown
R4584:Ep400	UTSW	5	110,881,763 (GRCm39)	unclassified	probably benign
R4585:Ep400	UTSW	5	110,901,725 (GRCm39)	missense	probably damaging	1.00
R4586:Ep400	UTSW	5	110,901,725 (GRCm39)	missense	probably damaging	1.00
R4921:Ep400	UTSW	5	110,813,676 (GRCm39)	missense	probably damaging	1.00
R4976:Ep400	UTSW	5	110,868,622 (GRCm39)	missense	unknown
R4976:Ep400	UTSW	5	110,846,678 (GRCm39)	missense	unknown
R5075:Ep400	UTSW	5	110,833,351 (GRCm39)	missense	unknown
R5120:Ep400	UTSW	5	110,904,224 (GRCm39)	missense	probably damaging	1.00
R5122:Ep400	UTSW	5	110,816,036 (GRCm39)	missense	probably damaging	1.00
R5223:Ep400	UTSW	5	110,816,496 (GRCm39)	missense	probably damaging	1.00
R5284:Ep400	UTSW	5	110,815,990 (GRCm39)	missense	probably damaging	1.00
R5388:Ep400	UTSW	5	110,849,594 (GRCm39)	missense	unknown
R5401:Ep400	UTSW	5	110,831,037 (GRCm39)	missense	unknown
R5431:Ep400	UTSW	5	110,824,420 (GRCm39)	missense	unknown
R5461:Ep400	UTSW	5	110,824,550 (GRCm39)	nonsense	probably null
R5568:Ep400	UTSW	5	110,904,071 (GRCm39)	missense	probably damaging	1.00
R5650:Ep400	UTSW	5	110,843,818 (GRCm39)	critical splice donor site	probably null
R5778:Ep400	UTSW	5	110,867,450 (GRCm39)	missense	unknown
R5806:Ep400	UTSW	5	110,903,420 (GRCm39)	nonsense	probably null
R5814:Ep400	UTSW	5	110,843,444 (GRCm39)	splice site	probably null
R5830:Ep400	UTSW	5	110,831,862 (GRCm39)	missense	unknown
R5882:Ep400	UTSW	5	110,903,453 (GRCm39)	missense	probably benign	0.00
R5931:Ep400	UTSW	5	110,883,386 (GRCm39)	unclassified	probably benign
R5945:Ep400	UTSW	5	110,830,732 (GRCm39)	missense	unknown
R5966:Ep400	UTSW	5	110,824,766 (GRCm39)	missense	unknown
R5973:Ep400	UTSW	5	110,877,697 (GRCm39)	missense	unknown
R5980:Ep400	UTSW	5	110,881,595 (GRCm39)	unclassified	probably benign
R6000:Ep400	UTSW	5	110,831,067 (GRCm39)	missense	unknown
R6006:Ep400	UTSW	5	110,852,825 (GRCm39)	missense	unknown
R6053:Ep400	UTSW	5	110,903,661 (GRCm39)	missense	probably benign	0.22
R6145:Ep400	UTSW	5	110,904,569 (GRCm39)	missense	possibly damaging	0.95
R6154:Ep400	UTSW	5	110,903,799 (GRCm39)	missense	probably damaging	0.97
R6169:Ep400	UTSW	5	110,889,863 (GRCm39)	missense	possibly damaging	0.83
R6228:Ep400	UTSW	5	110,818,808 (GRCm39)	missense	probably damaging	1.00
R6295:Ep400	UTSW	5	110,901,675 (GRCm39)	missense	probably benign	0.00
R6486:Ep400	UTSW	5	110,845,084 (GRCm39)	unclassified	probably benign
R6504:Ep400	UTSW	5	110,856,703 (GRCm39)	unclassified	probably benign
R6607:Ep400	UTSW	5	110,831,180 (GRCm39)	missense	unknown
R6657:Ep400	UTSW	5	110,841,411 (GRCm39)	unclassified	probably benign
R6660:Ep400	UTSW	5	110,867,313 (GRCm39)	nonsense	probably null
R6741:Ep400	UTSW	5	110,824,761 (GRCm39)	missense	unknown
R6933:Ep400	UTSW	5	110,813,728 (GRCm39)	missense	probably damaging	1.00
R6937:Ep400	UTSW	5	110,859,018 (GRCm39)	unclassified	probably benign
R7069:Ep400	UTSW	5	110,815,990 (GRCm39)	missense	probably damaging	1.00
R7103:Ep400	UTSW	5	110,881,651 (GRCm39)	missense	unknown
R7156:Ep400	UTSW	5	110,833,229 (GRCm39)	missense	unknown
R7272:Ep400	UTSW	5	110,903,511 (GRCm39)	nonsense	probably null
R7365:Ep400	UTSW	5	110,867,480 (GRCm39)	missense	unknown
R7581:Ep400	UTSW	5	110,903,891 (GRCm39)	missense	unknown
R7684:Ep400	UTSW	5	110,845,218 (GRCm39)	missense	unknown
R7699:Ep400	UTSW	5	110,843,898 (GRCm39)	missense	unknown
R7700:Ep400	UTSW	5	110,843,898 (GRCm39)	missense	unknown
R7856:Ep400	UTSW	5	110,814,450 (GRCm39)	missense	probably damaging	0.99
R7954:Ep400	UTSW	5	110,816,599 (GRCm39)	missense	possibly damaging	0.46
R8098:Ep400	UTSW	5	110,841,117 (GRCm39)	missense	unknown
R8108:Ep400	UTSW	5	110,835,749 (GRCm39)	missense	unknown
R8260:Ep400	UTSW	5	110,903,478 (GRCm39)	nonsense	probably null
R8293:Ep400	UTSW	5	110,856,758 (GRCm39)	missense	unknown
R8314:Ep400	UTSW	5	110,903,619 (GRCm39)	missense	unknown
R8351:Ep400	UTSW	5	110,887,200 (GRCm39)	missense	probably damaging	1.00
R8424:Ep400	UTSW	5	110,841,144 (GRCm39)	missense	unknown
R8459:Ep400	UTSW	5	110,856,757 (GRCm39)	missense	unknown
R8529:Ep400	UTSW	5	110,867,102 (GRCm39)	missense	unknown
R8688:Ep400	UTSW	5	110,868,685 (GRCm39)	missense	unknown
R8744:Ep400	UTSW	5	110,889,925 (GRCm39)	missense	unknown
R8923:Ep400	UTSW	5	110,831,864 (GRCm39)	missense	unknown
R9005:Ep400	UTSW	5	110,858,959 (GRCm39)	missense	unknown
R9087:Ep400	UTSW	5	110,815,430 (GRCm39)	nonsense	probably null
R9146:Ep400	UTSW	5	110,849,635 (GRCm39)	nonsense	probably null
R9383:Ep400	UTSW	5	110,833,351 (GRCm39)	missense	unknown
R9479:Ep400	UTSW	5	110,877,730 (GRCm39)	missense	unknown
R9496:Ep400	UTSW	5	110,855,853 (GRCm39)	missense	unknown
R9582:Ep400	UTSW	5	110,824,315 (GRCm39)	critical splice donor site	probably null
R9607:Ep400	UTSW	5	110,831,805 (GRCm39)	missense	unknown
R9712:Ep400	UTSW	5	110,904,509 (GRCm39)	missense	unknown
R9746:Ep400	UTSW	5	110,889,872 (GRCm39)	missense	unknown
X0012:Ep400	UTSW	5	110,821,062 (GRCm39)	small deletion	probably benign
X0021:Ep400	UTSW	5	110,830,730 (GRCm39)	missense	unknown
Z1176:Ep400	UTSW	5	110,904,501 (GRCm39)	missense	unknown
Z1177:Ep400	UTSW	5	110,881,609 (GRCm39)	missense	unknown
Z1177:Ep400	UTSW	5	110,831,230 (GRCm39)	missense	unknown
Z1188:Ep400	UTSW	5	110,903,549 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCACAAAGGCCTCTTCCTTC -3'
(R):5'- GCAGACATTGTGGTCTTTACTCC -3'

Sequencing Primer
(F):5'- TTCTTCCAGGAAGGGAACAAATC -3'
(R):5'- CATAGAAGTAGGCTGTGGATG -3'

Posted On

2016-08-01