Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Ep400'

236605

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

1700020J09Rik, p400, mDomino

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110812239-110918583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110851384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1366 (M1366K)

Ref Sequence

ENSEMBL: ENSMUSP00000108055 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000041558
AA Change: M1402K

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
AA Change: M1402K

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

unknown
Transcript: ENSMUST00000112435
AA Change: M1439K

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
AA Change: M1439K

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

unknown
Transcript: ENSMUST00000112436
AA Change: M1366K

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
AA Change: M1366K

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

unknown
Transcript: ENSMUST00000125325
AA Change: M101K

SMART Domains

Protein: ENSMUSP00000116137
Gene: ENSMUSG00000029505
AA Change: M101K

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: ENSMUST00000141986

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
Acsl6	A	T	11: 54,232,604 (GRCm39)	Q485L	probably damaging	Het
Adam5	C	A	8: 25,305,496 (GRCm39)	V81F	probably benign	Het
Aoc1l1	A	G	6: 48,952,225 (GRCm39)	H50R	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cap2	A	T	13: 46,713,978 (GRCm39)		probably null	Het
Ccnk	T	A	12: 108,155,349 (GRCm39)	L102Q	probably null	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdc123	A	T	2: 5,815,617 (GRCm39)	I160K	probably benign	Het
Cep85l	T	C	10: 53,234,222 (GRCm39)	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,029,440 (GRCm39)	T298I	probably benign	Het
Cpsf4	G	T	5: 145,115,572 (GRCm39)	S192I	probably benign	Het
Cpxm1	A	G	2: 130,239,330 (GRCm39)	S33P	probably benign	Het
Cyp2a12	A	T	7: 26,734,194 (GRCm39)	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,894 (GRCm39)	F137S	probably damaging	Het
Des	A	G	1: 75,343,448 (GRCm39)	T444A	probably benign	Het
Dgcr8	C	T	16: 18,102,120 (GRCm39)	G54D	probably damaging	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Epg5	G	T	18: 77,997,412 (GRCm39)	C425F	possibly damaging	Het
Epha3	C	G	16: 63,593,680 (GRCm39)	R136P	possibly damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fam186b	A	G	15: 99,178,538 (GRCm39)	Y263H	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Gart	A	T	16: 91,426,969 (GRCm39)	I555N	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gnptab	C	T	10: 88,264,368 (GRCm39)	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,408,243 (GRCm39)	V263A	probably benign	Het
Gxylt1	T	C	15: 93,152,361 (GRCm39)	I224V	probably benign	Het
H2-Aa	A	G	17: 34,502,801 (GRCm39)	S122P	probably damaging	Het
Hsph1	A	C	5: 149,553,802 (GRCm39)		probably null	Het
Hunk	G	A	16: 90,229,420 (GRCm39)	D94N	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Ints10	A	G	8: 69,249,457 (GRCm39)	T96A	probably damaging	Het
Kansl2	A	T	15: 98,424,512 (GRCm39)	V306E	probably benign	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Ktn1	A	G	14: 47,952,109 (GRCm39)	E983G	probably damaging	Het
Lrrk1	G	A	7: 65,945,911 (GRCm39)	S566L	probably damaging	Het
M6pr	A	G	6: 122,292,326 (GRCm39)	M174V	probably benign	Het
Man2a2	A	G	7: 80,013,264 (GRCm39)	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,922,059 (GRCm39)	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,311,533 (GRCm39)		probably null	Het
Mrgpra9	T	C	7: 46,885,211 (GRCm39)	E152G	probably benign	Het
Mst1r	T	C	9: 107,790,367 (GRCm39)	V660A	probably benign	Het
Myof	A	G	19: 37,969,669 (GRCm39)		probably null	Het
Myrf	G	A	19: 10,206,038 (GRCm39)	P126L	probably benign	Het
Nckap1l	C	T	15: 103,384,103 (GRCm39)	A567V	probably damaging	Het
Nphs1	A	G	7: 30,160,395 (GRCm39)	E169G	probably benign	Het
Npy1r	T	A	8: 67,157,836 (GRCm39)	V382D	probably benign	Het
Nrl	A	T	14: 55,758,307 (GRCm39)	M140K	possibly damaging	Het
Odad2	C	T	18: 7,127,229 (GRCm39)	E995K	probably damaging	Het
Or14c39	T	A	7: 86,344,488 (GRCm39)	F275I	probably damaging	Het
Or2ag1b	A	T	7: 106,288,164 (GRCm39)	M258K	probably damaging	Het
Or4f56	A	G	2: 111,703,768 (GRCm39)	I144T	probably damaging	Het
Or5ac17	C	T	16: 59,036,389 (GRCm39)	V196M	probably benign	Het
Or8d2	C	T	9: 38,759,635 (GRCm39)	T75I	probably damaging	Het
Orc5	T	A	5: 22,752,925 (GRCm39)	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 13,004,230 (GRCm39)	S396T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pclo	C	T	5: 14,908,766 (GRCm39)	L5025F	unknown	Het
Pde3a	T	C	6: 141,435,837 (GRCm39)	V924A	probably benign	Het
Pdpr	A	G	8: 111,844,668 (GRCm39)	N355S	probably damaging	Het
Pepd	A	T	7: 34,620,843 (GRCm39)	K36M	probably benign	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pik3r6	T	A	11: 68,434,437 (GRCm39)	L546*	probably null	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Primpol	A	T	8: 47,039,378 (GRCm39)	M414K	probably damaging	Het
Prol1	A	T	5: 88,476,254 (GRCm39)	T215S	unknown	Het
Prss22	A	G	17: 24,213,656 (GRCm39)	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,230,524 (GRCm39)	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rbm26	T	A	14: 105,352,638 (GRCm39)	R1009*	probably null	Het
Rbm42	A	G	7: 30,340,535 (GRCm39)	*450Q	probably null	Het
Rere	T	C	4: 150,701,388 (GRCm39)	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,555,797 (GRCm39)	L15F	probably damaging	Het
Rnf213	T	C	11: 119,334,516 (GRCm39)	S3242P	probably damaging	Het
Rtel1	T	A	2: 180,965,499 (GRCm39)	V167E	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,457,893 (GRCm39)	L203P	probably damaging	Het
Skint6	T	C	4: 113,093,457 (GRCm39)	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,755,104 (GRCm39)	Y566C	probably damaging	Het
Smgc	T	G	15: 91,728,624 (GRCm39)	D121E	possibly damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
St7	A	T	6: 17,886,006 (GRCm39)	N52I	possibly damaging	Het
Sycn	C	A	7: 28,240,494 (GRCm39)	Q54K	probably benign	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,619,738 (GRCm39)	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,449,363 (GRCm39)	Y443H	probably damaging	Het
Tmem200c	A	T	17: 69,149,244 (GRCm39)	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,535,614 (GRCm39)	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,301,598 (GRCm39)	V23G	possibly damaging	Het
Trhr	T	C	15: 44,060,579 (GRCm39)	V33A	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Trnt1	A	G	6: 106,755,000 (GRCm39)	K244E	probably damaging	Het
Tsfm	G	A	10: 126,864,314 (GRCm39)	Q134*	probably null	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,603,690 (GRCm39)	L623F	probably damaging	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,925,949 (GRCm39)		probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp592	A	G	7: 80,687,950 (GRCm39)	T959A	probably benign	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
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
R4807:Ep400	UTSW	5	110,843,444 (GRCm39)	splice site	probably null
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'- ACAGAATGCCTAGAGTCAGC -3'
(R):5'- CAGTTGATTCCTGCCTTGTAGC -3'

Sequencing Primer
(F):5'- CTATAGGAAGGTACTGATCATAGCCC -3'
(R):5'- CAGATTTTGCCTCTTGGTCAAG -3'

Posted On

2014-10-01