Mutagenetix > Incidental Mutation

Incidental Mutation 'R1905:Ep400'

214268

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

mDomino, 1700020J09Rik, p400

MMRRC Submission

039924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1905 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110664373-110770717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110670948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2738 (T2738I)

Ref Sequence

ENSEMBL: ENSMUSP00000049038 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041558
AA Change: T2738I

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

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
AA Change: T2738I

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: T2619I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
AA Change: T2619I

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: T2702I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
AA Change: T2702I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.1%

Validation Efficiency

99% (90/91)

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
4833420G17Rik	G	T	13: 119,469,680	V153L	possibly damaging	Het
Adamts17	T	A	7: 67,047,472	C631*	probably null	Het
Adamts19	A	G	18: 59,032,945	R1070G	possibly damaging	Het
Aldh1a1	A	G	19: 20,617,998	E97G	probably damaging	Het
Bola2	T	A	7: 126,696,238	V40E	probably damaging	Het
Ccar1	A	G	10: 62,776,658	S243P	possibly damaging	Het
Cd80	A	T	16: 38,474,177	I141F	probably damaging	Het
Chn2	T	C	6: 54,286,121	C92R	probably damaging	Het
Clk1	A	T	1: 58,421,942		probably benign	Het
Clock	T	C	5: 76,266,888		probably benign	Het
Cntnap3	A	G	13: 64,903,764	V26A	probably benign	Het
Csf3r	A	T	4: 126,042,745	K651N	probably benign	Het
Cul4a	T	C	8: 13,133,171	M322T	probably benign	Het
Cx3cl1	A	G	8: 94,780,059	T231A	probably benign	Het
Cyp2c68	A	T	19: 39,735,582	C213S	probably benign	Het
Dhx16	T	G	17: 35,888,355	S814A	probably benign	Het
Dnah1	T	C	14: 31,264,630	I3659V	probably benign	Het
Dock6	A	T	9: 21,829,574	V906D	probably benign	Het
Erbb4	A	T	1: 68,075,410		probably benign	Het
Fam135b	C	T	15: 71,532,987	R70H	probably damaging	Het
Fam13a	T	C	6: 58,953,490	Q479R	probably damaging	Het
Fam96a	A	G	9: 66,132,647	K82R	probably benign	Het
Fcgr4	A	T	1: 171,029,305	Q247L	probably damaging	Het
Flnc	T	A	6: 29,459,460	C2520S	probably damaging	Het
Foxn1	A	G	11: 78,371,810		probably null	Het
Fsip2	C	T	2: 82,983,428	P3364S	possibly damaging	Het
Fzd8	C	T	18: 9,213,803	T295I	probably damaging	Het
Gm10499	T	C	17: 36,142,941		noncoding transcript	Het
Gm340	A	G	19: 41,583,574	D256G	possibly damaging	Het
Gm4744	G	A	6: 40,951,802		probably benign	Het
Gm4871	G	T	5: 145,030,049	A208D	probably damaging	Het
Gm5155	T	A	7: 17,873,552		noncoding transcript	Het
Gm527	A	G	12: 64,921,023	N73S	possibly damaging	Het
Gm5414	T	C	15: 101,624,640	I451V	probably damaging	Het
Golm1	A	T	13: 59,642,251	V245E	probably benign	Het
Grik1	A	T	16: 87,896,866	Y879*	probably null	Het
Grn	C	A	11: 102,436,450	P241Q	probably damaging	Het
Hjurp	T	C	1: 88,266,616	E190G	probably benign	Het
Hmcn1	A	C	1: 150,992,855	I66S	probably damaging	Het
Hykk	T	A	9: 54,946,383	Y330N	probably benign	Het
Khdc1c	A	G	1: 21,369,057	N89S	probably benign	Het
Lrrc72	T	A	12: 36,208,662		probably null	Het
Lyst	T	G	13: 13,634,134	S130A	probably benign	Het
Mast1	G	A	8: 84,916,266	R967C	probably damaging	Het
Mfng	T	C	15: 78,773,086	T63A	probably damaging	Het
Mre11a	G	A	9: 14,799,627	D206N	probably benign	Het
Myh10	A	G	11: 68,771,868		probably benign	Het
Myt1	A	G	2: 181,797,756	D357G	probably damaging	Het
Nacad	T	A	11: 6,602,540	H217L	probably benign	Het
Ncoa1	A	G	12: 4,295,433	V638A	probably damaging	Het
Nlrp3	T	G	11: 59,549,036	F480V	probably damaging	Het
Nos1ap	A	G	1: 170,318,558	W476R	possibly damaging	Het
Nr1h4	T	A	10: 89,480,559	T220S	possibly damaging	Het
Ntf5	G	T	7: 45,415,752	V103L	probably damaging	Het
Ntm	C	A	9: 29,179,097	D109Y	probably damaging	Het
Olfr18	C	T	9: 20,314,846	E17K	probably benign	Het
P2rx7	G	A	5: 122,680,952	C479Y	probably damaging	Het
Pappa2	T	A	1: 158,803,503		probably null	Het
Pgap1	A	C	1: 54,511,961	I520R	probably benign	Het
Pikfyve	G	A	1: 65,192,295		probably null	Het
Plekhg3	T	C	12: 76,576,217	S744P	probably benign	Het
Pramel6	A	G	2: 87,509,182	R97G	probably damaging	Het
Pramel6	G	T	2: 87,509,183	R97M	probably damaging	Het
Psme4	T	C	11: 30,810,922	V397A	probably damaging	Het
Ptk2b	T	C	14: 66,158,670	D783G	probably damaging	Het
Ptma-ps1	T	A	7: 24,063,881	L17*	probably null	Het
Ralgapa2	C	A	2: 146,387,701	R1053L	probably damaging	Het
Sap130	C	T	18: 31,680,567	P559L	possibly damaging	Het
Sap30	T	C	8: 57,487,311	S86G	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema3f	G	T	9: 107,684,376	Q500K	probably damaging	Het
Serpinb3d	T	C	1: 107,079,284	I231M	possibly damaging	Het
Sf3a1	T	A	11: 4,176,678	N563K	probably benign	Het
Sipa1l3	A	G	7: 29,339,167	S352P	possibly damaging	Het
Slc6a12	G	T	6: 121,347,443	E9*	probably null	Het
Srebf1	T	C	11: 60,204,493	D400G	probably damaging	Het
Swsap1	T	C	9: 21,956,692	Y87H	probably damaging	Het
Tanc2	G	A	11: 105,922,863	G1711D	possibly damaging	Het
Tas2r107	T	C	6: 131,659,988	M33V	probably benign	Het
Tdrd9	T	A	12: 112,063,627		probably benign	Het
Tdrp	T	C	8: 13,954,079	D86G	probably damaging	Het
Tmem92	A	T	11: 94,778,675	M106K	probably benign	Het
Tmf1	A	T	6: 97,161,479	C764S	possibly damaging	Het
Ttc21a	G	T	9: 119,966,757	R1219L	possibly damaging	Het
Ttn	C	T	2: 76,763,448	G18870D	probably damaging	Het
Tubgcp6	T	C	15: 89,100,608	Y1732C	probably damaging	Het
Vmn1r28	A	G	6: 58,265,927	T252A	probably benign	Het
Xirp2	A	G	2: 67,516,356	I2980M	probably damaging	Het
Zc2hc1c	A	G	12: 85,290,514	D315G	probably benign	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
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	splice site	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	splice site	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
R7069:Ep400	UTSW	5	110668124	missense	probably damaging	1.00
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
R7856:Ep400	UTSW	5	110666584	missense	probably damaging	0.99
R7954:Ep400	UTSW	5	110668733	missense	possibly damaging	0.46
R8098:Ep400	UTSW	5	110693251	missense	unknown
R8108:Ep400	UTSW	5	110687883	missense	unknown
R8260:Ep400	UTSW	5	110755612	nonsense	probably null
R8293:Ep400	UTSW	5	110708892	missense	unknown
R8314:Ep400	UTSW	5	110755753	missense	unknown
R8351:Ep400	UTSW	5	110739334	missense	probably damaging	1.00
R8424:Ep400	UTSW	5	110693278	missense	unknown
R8459:Ep400	UTSW	5	110708891	missense	unknown
R8529:Ep400	UTSW	5	110719236	missense	unknown
R8688:Ep400	UTSW	5	110720819	missense	unknown
R8744:Ep400	UTSW	5	110742059	missense	unknown
R8923:Ep400	UTSW	5	110683998	missense	unknown
R9005:Ep400	UTSW	5	110711093	missense	unknown
R9087:Ep400	UTSW	5	110667564	nonsense	probably null
R9146:Ep400	UTSW	5	110701769	nonsense	probably null
R9383:Ep400	UTSW	5	110685485	missense	unknown
R9479:Ep400	UTSW	5	110729864	missense	unknown
R9496:Ep400	UTSW	5	110707987	missense	unknown
R9582:Ep400	UTSW	5	110676449	critical splice donor site	probably null
R9607:Ep400	UTSW	5	110683939	missense	unknown
R9712:Ep400	UTSW	5	110756643	missense	unknown
R9746:Ep400	UTSW	5	110742006	missense	unknown
X0012:Ep400	UTSW	5	110673196	small deletion	probably benign
X0021:Ep400	UTSW	5	110682864	missense	unknown
Z1176:Ep400	UTSW	5	110756635	missense	unknown
Z1177:Ep400	UTSW	5	110683364	missense	unknown
Z1177:Ep400	UTSW	5	110733743	missense	unknown
Z1188:Ep400	UTSW	5	110755683	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGCTGTGCAATCCTAGCAC -3'
(R):5'- ATTCAATGCCCACGTCGAAG -3'

Sequencing Primer
(F):5'- GTGCAATCCTAGCACTTTGAG -3'
(R):5'- CTGCATATCAGCTCATGTACAGG -3'

Posted On

2014-07-14