Mutagenetix > Incidental Mutation

Incidental Mutation 'R4921:Ep400'

378565

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

mDomino, 1700020J09Rik, p400

MMRRC Submission

042523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110664373-110770717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110665810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 2908 (C2908R)

Ref Sequence

ENSEMBL: ENSMUSP00000108054 (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: C3034R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
AA Change: C3034R

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: C2908R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
AA Change: C2908R

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: C2998R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
AA Change: C2998R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196771

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,796 (GRCm38)	N65K	probably benign	Het
Abcc9	T	C	6: 142,590,436 (GRCm38)	Y1524C	probably benign	Het
Acap1	A	G	11: 69,887,193 (GRCm38)	I102T	probably damaging	Het
Acvr2a	T	C	2: 48,893,541 (GRCm38)	V284A	possibly damaging	Het
Adam3	T	C	8: 24,684,614 (GRCm38)	M712V	probably benign	Het
Adck1	T	C	12: 88,441,138 (GRCm38)	V213A	probably benign	Het
Adgrl3	G	T	5: 81,512,110 (GRCm38)	W242L	probably damaging	Het
Alk	T	C	17: 71,904,315 (GRCm38)	T857A	probably benign	Het
Alms1	A	G	6: 85,628,546 (GRCm38)	T2393A	probably benign	Het
Ank3	C	T	10: 70,002,109 (GRCm38)	P240L	probably damaging	Het
Ankrd35	C	A	3: 96,684,824 (GRCm38)	L809M	possibly damaging	Het
Birc6	T	A	17: 74,650,099 (GRCm38)	L3690Q	probably damaging	Het
Bmp3	C	A	5: 98,872,061 (GRCm38)	F114L	probably damaging	Het
Cage1	G	A	13: 38,019,208 (GRCm38)	H627Y	probably benign	Het
Cars	T	C	7: 143,569,475 (GRCm38)	D468G	probably damaging	Het
Ccdc148	T	C	2: 58,829,802 (GRCm38)	E487G	probably damaging	Het
Ccdc80	A	T	16: 45,118,167 (GRCm38)	I746F	probably damaging	Het
Ccl25	A	G	8: 4,353,913 (GRCm38)	Q119R	possibly damaging	Het
Cdh24	C	T	14: 54,633,215 (GRCm38)	D178N	probably damaging	Het
Cdk12	A	T	11: 98,222,687 (GRCm38)	T766S	unknown	Het
Chst15	T	A	7: 132,247,884 (GRCm38)	T443S	probably benign	Het
Cnbp	T	C	6: 87,845,146 (GRCm38)	D125G	possibly damaging	Het
Cntn2	A	T	1: 132,516,032 (GRCm38)	V1003E	possibly damaging	Het
Crct1	A	G	3: 93,014,825 (GRCm38)		probably benign	Het
Dand5	C	T	8: 84,816,484 (GRCm38)	C121Y	probably damaging	Het
Dmkn	A	T	7: 30,771,233 (GRCm38)	D382V	probably damaging	Het
Dnase2b	T	A	3: 146,593,441 (GRCm38)	T86S	probably damaging	Het
Dusp8	GCCACCACCACCACCACCACCACC	GCCACCACCACCACCACCACC	7: 142,082,154 (GRCm38)		probably benign	Het
Eef1akmt1	C	T	14: 57,550,632 (GRCm38)	V90M	probably damaging	Het
Egfl7	G	T	2: 26,590,980 (GRCm38)	W168L	probably benign	Het
Espl1	A	G	15: 102,315,241 (GRCm38)	K1076E	probably damaging	Het
Exoc4	A	G	6: 33,910,517 (GRCm38)	N747D	probably benign	Het
Fancm	T	C	12: 65,077,141 (GRCm38)	V191A	probably benign	Het
Fbxo17	A	G	7: 28,732,789 (GRCm38)	D97G	probably benign	Het
Fer1l6	G	T	15: 58,600,311 (GRCm38)		probably null	Het
Flt4	T	C	11: 49,627,143 (GRCm38)	W337R	probably damaging	Het
Fpr-rs7	T	C	17: 20,113,820 (GRCm38)	H136R	possibly damaging	Het
Frem3	T	A	8: 80,613,136 (GRCm38)	I686N	possibly damaging	Het
Galnt9	A	G	5: 110,577,449 (GRCm38)	K84R	probably damaging	Het
Gfm2	T	A	13: 97,175,676 (GRCm38)	M760K	probably damaging	Het
Glis3	T	C	19: 28,666,104 (GRCm38)	T13A	probably damaging	Het
Gm13078	A	T	4: 143,728,326 (GRCm38)	K398M	possibly damaging	Het
H2-K1	A	G	17: 33,997,076 (GRCm38)	V323A	possibly damaging	Het
Hbb-bs	G	A	7: 103,826,720 (GRCm38)	A130V	probably damaging	Het
Herc2	T	A	7: 56,229,690 (GRCm38)	H4685Q	probably benign	Het
Ighv5-9-1	C	T	12: 113,736,294 (GRCm38)	R56H	possibly damaging	Het
Itgb4	A	G	11: 116,006,605 (GRCm38)	N1548S	probably benign	Het
Itpr3	T	C	17: 27,098,005 (GRCm38)	Y745H	probably damaging	Het
Kank3	G	T	17: 33,817,200 (GRCm38)	G14V	probably damaging	Het
Kif24	G	T	4: 41,394,329 (GRCm38)	S982Y	probably damaging	Het
Kifc5b	C	T	17: 26,921,023 (GRCm38)	R53W	probably damaging	Het
Krt39	A	G	11: 99,514,749 (GRCm38)	S442P	possibly damaging	Het
Lcat	G	A	8: 105,942,442 (GRCm38)	P67L	possibly damaging	Het
Maml2	T	C	9: 13,621,175 (GRCm38)	S562P	probably damaging	Het
Map3k8	G	A	18: 4,349,124 (GRCm38)	R65W	possibly damaging	Het
Mbd3	G	T	10: 80,395,576 (GRCm38)	R12S	probably damaging	Het
Msr1	T	C	8: 39,624,251 (GRCm38)	E106G	possibly damaging	Het
Myh4	T	A	11: 67,254,028 (GRCm38)	L1256Q	probably damaging	Het
Mypn	G	A	10: 63,147,936 (GRCm38)	T511M	possibly damaging	Het
Nub1	A	T	5: 24,701,469 (GRCm38)	N331I	probably benign	Het
Nup107	A	G	10: 117,770,511 (GRCm38)	V440A	possibly damaging	Het
Ofcc1	A	G	13: 40,214,517 (GRCm38)	F174L	probably benign	Het
Olfr1497	T	C	19: 13,795,465 (GRCm38)	I49V	probably benign	Het
Olfr597	A	T	7: 103,320,543 (GRCm38)	N44I	probably damaging	Het
Olfr975	A	C	9: 39,950,225 (GRCm38)	V182G	probably damaging	Het
Parp2	C	A	14: 50,819,268 (GRCm38)	L310I	probably damaging	Het
Pcdh20	A	G	14: 88,469,726 (GRCm38)	V46A	probably benign	Het
Pcdhgb6	A	G	18: 37,743,472 (GRCm38)	D411G	probably damaging	Het
Pkd1l2	A	T	8: 117,072,549 (GRCm38)	N267K	probably damaging	Het
Pkd1l2	T	C	8: 117,054,885 (GRCm38)	E807G	probably benign	Het
Rell1	C	A	5: 63,936,033 (GRCm38)	M126I	probably damaging	Het
Robo4	G	A	9: 37,402,560 (GRCm38)	E36K	probably benign	Het
Rpgrip1l	T	C	8: 91,261,009 (GRCm38)	S807G	probably benign	Het
Rpl10a	T	C	17: 28,330,852 (GRCm38)	V169A	probably benign	Het
Rubcn	C	T	16: 32,847,294 (GRCm38)	V166I	probably damaging	Het
Sall2	T	C	14: 52,315,393 (GRCm38)	E113G	possibly damaging	Het
Sars2	T	C	7: 28,752,438 (GRCm38)	S423P	possibly damaging	Het
Scaper	A	G	9: 55,892,235 (GRCm38)	I182T	probably benign	Het
Selp	A	G	1: 164,141,397 (GRCm38)	D522G	possibly damaging	Het
Sema4b	T	A	7: 80,198,756 (GRCm38)	I35N	possibly damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm38)	F268I	probably damaging	Het
Slc14a2	G	T	18: 78,192,188 (GRCm38)	A258E	probably damaging	Het
Slc17a9	T	C	2: 180,735,949 (GRCm38)	Y213H	probably benign	Het
Slc22a7	T	G	17: 46,436,933 (GRCm38)	I233L	probably benign	Het
Slc35f1	A	G	10: 53,062,602 (GRCm38)	Q210R	probably damaging	Het
Slc6a21	A	G	7: 45,288,310 (GRCm38)	E350G	possibly damaging	Het
Spata21	A	T	4: 141,112,091 (GRCm38)	D639V	probably damaging	Het
Svil	A	G	18: 5,108,631 (GRCm38)	D1519G	probably damaging	Het
Tbccd1	T	C	16: 22,841,899 (GRCm38)	T56A	probably benign	Het
Tigit	A	T	16: 43,662,017 (GRCm38)	I118N	probably damaging	Het
Tlr11	A	T	14: 50,362,885 (GRCm38)	Q776L	possibly damaging	Het
Tspan12	A	C	6: 21,835,449 (GRCm38)	I9S	possibly damaging	Het
Unc5c	T	A	3: 141,788,966 (GRCm38)	Y347N	probably damaging	Het
Unk	A	G	11: 116,054,945 (GRCm38)	T481A	probably benign	Het
Vmn1r192	A	C	13: 22,187,480 (GRCm38)	V190G	probably damaging	Het
Vnn3	A	T	10: 23,864,575 (GRCm38)	M259L	probably benign	Het
Zan	T	C	5: 137,408,370 (GRCm38)		probably benign	Het
Zdhhc6	T	C	19: 55,313,210 (GRCm38)	H113R	probably damaging	Het

Other mutations in Ep400

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ep400	APN	5	110,687,841 (GRCm38)	missense	unknown
IGL00585:Ep400	APN	5	110,755,905 (GRCm38)	missense	possibly damaging	0.70
IGL00586:Ep400	APN	5	110,739,594 (GRCm38)	missense	probably damaging	1.00
IGL00816:Ep400	APN	5	110,735,490 (GRCm38)	unclassified	probably benign
IGL01066:Ep400	APN	5	110,668,199 (GRCm38)	splice site	probably benign
IGL01302:Ep400	APN	5	110,742,048 (GRCm38)	missense	probably benign	0.00
IGL01568:Ep400	APN	5	110,719,495 (GRCm38)	missense	unknown
IGL01833:Ep400	APN	5	110,680,008 (GRCm38)	missense	unknown
IGL02086:Ep400	APN	5	110,676,943 (GRCm38)	splice site	probably benign
IGL02266:Ep400	APN	5	110,695,297 (GRCm38)	unclassified	probably benign
IGL02288:Ep400	APN	5	110,683,836 (GRCm38)	splice site	probably benign
IGL02301:Ep400	APN	5	110,674,960 (GRCm38)	missense	probably damaging	1.00
IGL02377:Ep400	APN	5	110,720,825 (GRCm38)	missense	unknown
IGL02382:Ep400	APN	5	110,701,728 (GRCm38)	missense	unknown
IGL02419:Ep400	APN	5	110,697,376 (GRCm38)	splice site	probably null
IGL02591:Ep400	APN	5	110,733,772 (GRCm38)	unclassified	probably benign
IGL02981:Ep400	APN	5	110,691,610 (GRCm38)	splice site	probably benign
IGL02981:Ep400	APN	5	110,756,103 (GRCm38)	missense	possibly damaging	0.79
IGL03173:Ep400	APN	5	110,708,871 (GRCm38)	unclassified	probably benign
IGL03244:Ep400	APN	5	110,727,563 (GRCm38)	missense	unknown
IGL03333:Ep400	APN	5	110,703,566 (GRCm38)	missense	unknown
santol	UTSW	5	110,701,671 (GRCm38)	missense	unknown
PIT4243001:Ep400	UTSW	5	110,735,580 (GRCm38)	missense	unknown
PIT4260001:Ep400	UTSW	5	110,693,171 (GRCm38)	nonsense	probably null
R0017:Ep400	UTSW	5	110,673,529 (GRCm38)	missense	probably damaging	1.00
R0179:Ep400	UTSW	5	110,668,649 (GRCm38)	missense	probably damaging	0.99
R0243:Ep400	UTSW	5	110,724,407 (GRCm38)	splice site	probably benign
R0366:Ep400	UTSW	5	110,701,671 (GRCm38)	missense	unknown
R0508:Ep400	UTSW	5	110,739,508 (GRCm38)	missense	probably benign	0.00
R0541:Ep400	UTSW	5	110,705,016 (GRCm38)	missense	unknown
R0558:Ep400	UTSW	5	110,685,067 (GRCm38)	splice site	probably benign
R0576:Ep400	UTSW	5	110,711,093 (GRCm38)	unclassified	probably benign
R0595:Ep400	UTSW	5	110,703,542 (GRCm38)	missense	unknown
R0671:Ep400	UTSW	5	110,688,196 (GRCm38)	missense	unknown
R0763:Ep400	UTSW	5	110,665,837 (GRCm38)	missense	probably damaging	1.00
R1078:Ep400	UTSW	5	110,735,522 (GRCm38)	unclassified	probably benign
R1300:Ep400	UTSW	5	110,673,560 (GRCm38)	missense	probably damaging	1.00
R1439:Ep400	UTSW	5	110,685,478 (GRCm38)	missense	unknown
R1520:Ep400	UTSW	5	110,691,778 (GRCm38)	intron	probably benign
R1529:Ep400	UTSW	5	110,739,445 (GRCm38)	missense	probably benign	0.00
R1535:Ep400	UTSW	5	110,708,166 (GRCm38)	unclassified	probably benign
R1560:Ep400	UTSW	5	110,671,106 (GRCm38)	splice site	probably null
R1587:Ep400	UTSW	5	110,726,902 (GRCm38)	missense	probably benign	0.23
R1596:Ep400	UTSW	5	110,708,861 (GRCm38)	unclassified	probably benign
R1653:Ep400	UTSW	5	110,693,174 (GRCm38)	nonsense	probably null
R1711:Ep400	UTSW	5	110,693,308 (GRCm38)	unclassified	probably benign
R1774:Ep400	UTSW	5	110,685,491 (GRCm38)	missense	unknown
R1836:Ep400	UTSW	5	110,705,054 (GRCm38)	missense	unknown
R1905:Ep400	UTSW	5	110,670,948 (GRCm38)	missense	probably damaging	1.00
R1917:Ep400	UTSW	5	110,703,575 (GRCm38)	missense	unknown
R2064:Ep400	UTSW	5	110,735,404 (GRCm38)	unclassified	probably benign
R2122:Ep400	UTSW	5	110,708,850 (GRCm38)	unclassified	probably benign
R2144:Ep400	UTSW	5	110,703,518 (GRCm38)	missense	unknown
R2215:Ep400	UTSW	5	110,693,555 (GRCm38)	unclassified	probably benign
R2252:Ep400	UTSW	5	110,719,091 (GRCm38)	missense	unknown
R2253:Ep400	UTSW	5	110,719,091 (GRCm38)	missense	unknown
R2483:Ep400	UTSW	5	110,719,236 (GRCm38)	missense	unknown
R2504:Ep400	UTSW	5	110,668,645 (GRCm38)	missense	probably damaging	1.00
R2512:Ep400	UTSW	5	110,708,915 (GRCm38)	unclassified	probably benign
R2842:Ep400	UTSW	5	110,698,815 (GRCm38)	nonsense	probably null
R2920:Ep400	UTSW	5	110,755,914 (GRCm38)	missense	probably damaging	1.00
R3082:Ep400	UTSW	5	110,693,230 (GRCm38)	unclassified	probably benign
R3151:Ep400	UTSW	5	110,703,569 (GRCm38)	missense	unknown
R3552:Ep400	UTSW	5	110,729,287 (GRCm38)	missense	unknown
R3623:Ep400	UTSW	5	110,719,236 (GRCm38)	missense	unknown
R3779:Ep400	UTSW	5	110,691,649 (GRCm38)	missense	unknown
R3923:Ep400	UTSW	5	110,756,523 (GRCm38)	missense	possibly damaging	0.55
R4062:Ep400	UTSW	5	110,741,981 (GRCm38)	missense	probably benign	0.10
R4508:Ep400	UTSW	5	110,703,615 (GRCm38)	missense	unknown
R4584:Ep400	UTSW	5	110,733,897 (GRCm38)	unclassified	probably benign
R4585:Ep400	UTSW	5	110,753,859 (GRCm38)	missense	probably damaging	1.00
R4586:Ep400	UTSW	5	110,753,859 (GRCm38)	missense	probably damaging	1.00
R4807:Ep400	UTSW	5	110,695,578 (GRCm38)	splice site	probably null
R4976:Ep400	UTSW	5	110,720,756 (GRCm38)	missense	unknown
R4976:Ep400	UTSW	5	110,698,812 (GRCm38)	missense	unknown
R5075:Ep400	UTSW	5	110,685,485 (GRCm38)	missense	unknown
R5120:Ep400	UTSW	5	110,756,358 (GRCm38)	missense	probably damaging	1.00
R5122:Ep400	UTSW	5	110,668,170 (GRCm38)	missense	probably damaging	1.00
R5223:Ep400	UTSW	5	110,668,630 (GRCm38)	missense	probably damaging	1.00
R5284:Ep400	UTSW	5	110,668,124 (GRCm38)	missense	probably damaging	1.00
R5388:Ep400	UTSW	5	110,701,728 (GRCm38)	missense	unknown
R5401:Ep400	UTSW	5	110,683,171 (GRCm38)	missense	unknown
R5431:Ep400	UTSW	5	110,676,554 (GRCm38)	missense	unknown
R5461:Ep400	UTSW	5	110,676,684 (GRCm38)	nonsense	probably null
R5568:Ep400	UTSW	5	110,756,205 (GRCm38)	missense	probably damaging	1.00
R5650:Ep400	UTSW	5	110,695,952 (GRCm38)	critical splice donor site	probably null
R5778:Ep400	UTSW	5	110,719,584 (GRCm38)	missense	unknown
R5806:Ep400	UTSW	5	110,755,554 (GRCm38)	nonsense	probably null
R5814:Ep400	UTSW	5	110,695,578 (GRCm38)	splice site	probably null
R5830:Ep400	UTSW	5	110,683,996 (GRCm38)	missense	unknown
R5882:Ep400	UTSW	5	110,755,587 (GRCm38)	missense	probably benign	0.00
R5931:Ep400	UTSW	5	110,735,520 (GRCm38)	unclassified	probably benign
R5945:Ep400	UTSW	5	110,682,866 (GRCm38)	missense	unknown
R5966:Ep400	UTSW	5	110,676,900 (GRCm38)	missense	unknown
R5973:Ep400	UTSW	5	110,729,831 (GRCm38)	missense	unknown
R5980:Ep400	UTSW	5	110,733,729 (GRCm38)	unclassified	probably benign
R6000:Ep400	UTSW	5	110,683,201 (GRCm38)	missense	unknown
R6006:Ep400	UTSW	5	110,704,959 (GRCm38)	missense	unknown
R6053:Ep400	UTSW	5	110,755,795 (GRCm38)	missense	probably benign	0.22
R6145:Ep400	UTSW	5	110,756,703 (GRCm38)	missense	possibly damaging	0.95
R6154:Ep400	UTSW	5	110,755,933 (GRCm38)	missense	probably damaging	0.97
R6169:Ep400	UTSW	5	110,741,997 (GRCm38)	missense	possibly damaging	0.83
R6228:Ep400	UTSW	5	110,670,942 (GRCm38)	missense	probably damaging	1.00
R6295:Ep400	UTSW	5	110,753,809 (GRCm38)	missense	probably benign	0.00
R6486:Ep400	UTSW	5	110,697,218 (GRCm38)	unclassified	probably benign
R6504:Ep400	UTSW	5	110,708,837 (GRCm38)	unclassified	probably benign
R6607:Ep400	UTSW	5	110,683,314 (GRCm38)	missense	unknown
R6657:Ep400	UTSW	5	110,693,545 (GRCm38)	unclassified	probably benign
R6660:Ep400	UTSW	5	110,719,447 (GRCm38)	nonsense	probably null
R6741:Ep400	UTSW	5	110,676,895 (GRCm38)	missense	unknown
R6933:Ep400	UTSW	5	110,665,862 (GRCm38)	missense	probably damaging	1.00
R6937:Ep400	UTSW	5	110,711,152 (GRCm38)	unclassified	probably benign
R7069:Ep400	UTSW	5	110,668,124 (GRCm38)	missense	probably damaging	1.00
R7103:Ep400	UTSW	5	110,733,785 (GRCm38)	missense	unknown
R7156:Ep400	UTSW	5	110,685,363 (GRCm38)	missense	unknown
R7272:Ep400	UTSW	5	110,755,645 (GRCm38)	nonsense	probably null
R7365:Ep400	UTSW	5	110,719,614 (GRCm38)	missense	unknown
R7581:Ep400	UTSW	5	110,756,025 (GRCm38)	missense	unknown
R7684:Ep400	UTSW	5	110,697,352 (GRCm38)	missense	unknown
R7699:Ep400	UTSW	5	110,696,032 (GRCm38)	missense	unknown
R7700:Ep400	UTSW	5	110,696,032 (GRCm38)	missense	unknown
R7856:Ep400	UTSW	5	110,666,584 (GRCm38)	missense	probably damaging	0.99
R7954:Ep400	UTSW	5	110,668,733 (GRCm38)	missense	possibly damaging	0.46
R8098:Ep400	UTSW	5	110,693,251 (GRCm38)	missense	unknown
R8108:Ep400	UTSW	5	110,687,883 (GRCm38)	missense	unknown
R8260:Ep400	UTSW	5	110,755,612 (GRCm38)	nonsense	probably null
R8293:Ep400	UTSW	5	110,708,892 (GRCm38)	missense	unknown
R8314:Ep400	UTSW	5	110,755,753 (GRCm38)	missense	unknown
R8351:Ep400	UTSW	5	110,739,334 (GRCm38)	missense	probably damaging	1.00
R8424:Ep400	UTSW	5	110,693,278 (GRCm38)	missense	unknown
R8459:Ep400	UTSW	5	110,708,891 (GRCm38)	missense	unknown
R8529:Ep400	UTSW	5	110,719,236 (GRCm38)	missense	unknown
R8688:Ep400	UTSW	5	110,720,819 (GRCm38)	missense	unknown
R8744:Ep400	UTSW	5	110,742,059 (GRCm38)	missense	unknown
R8923:Ep400	UTSW	5	110,683,998 (GRCm38)	missense	unknown
R9005:Ep400	UTSW	5	110,711,093 (GRCm38)	missense	unknown
R9087:Ep400	UTSW	5	110,667,564 (GRCm38)	nonsense	probably null
R9146:Ep400	UTSW	5	110,701,769 (GRCm38)	nonsense	probably null
R9383:Ep400	UTSW	5	110,685,485 (GRCm38)	missense	unknown
R9479:Ep400	UTSW	5	110,729,864 (GRCm38)	missense	unknown
R9496:Ep400	UTSW	5	110,707,987 (GRCm38)	missense	unknown
R9582:Ep400	UTSW	5	110,676,449 (GRCm38)	critical splice donor site	probably null
R9607:Ep400	UTSW	5	110,683,939 (GRCm38)	missense	unknown
R9712:Ep400	UTSW	5	110,756,643 (GRCm38)	missense	unknown
R9746:Ep400	UTSW	5	110,742,006 (GRCm38)	missense	unknown
X0012:Ep400	UTSW	5	110,673,196 (GRCm38)	small deletion	probably benign
X0021:Ep400	UTSW	5	110,682,864 (GRCm38)	missense	unknown
Z1176:Ep400	UTSW	5	110,756,635 (GRCm38)	missense	unknown
Z1177:Ep400	UTSW	5	110,733,743 (GRCm38)	missense	unknown
Z1177:Ep400	UTSW	5	110,683,364 (GRCm38)	missense	unknown
Z1188:Ep400	UTSW	5	110,755,683 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCTGTGCACACTAAGAGAAAC -3'
(R):5'- CAGGTACAGATGATCCCAACGG -3'

Sequencing Primer
(F):5'- AAACTGTGCACTGCCATGGATTG -3'
(R):5'- ATGATCCCAACGGTGACTG -3'

Posted On

2016-04-15