Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Ep400'

437006

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

1700020J09Rik, p400, mDomino

MMRRC Submission

043125-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5568 (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 110904071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 176 (V176E)

Ref Sequence

ENSEMBL: ENSMUSP00000138369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041558] [ENSMUST00000112433] [ENSMUST00000112435] [ENSMUST00000112436] [ENSMUST00000146458]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000041558
AA Change: V176E

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
AA Change: V176E

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: ENSMUST00000112433
AA Change: V176E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108052
Gene: ENSMUSG00000029505
AA Change: V176E

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	666	677	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000112435
AA Change: V176E

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
AA Change: V176E

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: V176E

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
AA Change: V176E

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 damaging
Transcript: ENSMUST00000146458
AA Change: V176E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138369
Gene: ENSMUSG00000029505
AA Change: V176E

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	519	532	N/A	INTRINSIC
low complexity region	550	561	N/A	INTRINSIC
low complexity region	598	620	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178031

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,349,364 (GRCm39)	V207A	probably benign	Het
Abcc10	C	A	17: 46,614,834 (GRCm39)		probably null	Het
Abcc9	A	C	6: 142,634,742 (GRCm39)	V174G	possibly damaging	Het
Abl1	C	T	2: 31,669,086 (GRCm39)	A155V	probably damaging	Het
Aco2	T	A	15: 81,787,787 (GRCm39)	D212E	probably damaging	Het
Adam26b	A	T	8: 43,973,529 (GRCm39)	M491K	probably benign	Het
Anapc5	G	A	5: 122,929,988 (GRCm39)		probably benign	Het
Atf7	A	G	15: 102,471,757 (GRCm39)	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,497,612 (GRCm39)	S2100P	probably damaging	Het
Capn5	T	A	7: 97,775,137 (GRCm39)	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,866,433 (GRCm39)	M748V	probably damaging	Het
Cd300c2	T	C	11: 114,891,662 (GRCm39)	T71A	probably damaging	Het
Chmp2a	T	C	7: 12,767,758 (GRCm39)	M56V	probably benign	Het
Cilp	A	C	9: 65,187,515 (GRCm39)	R1203S	probably benign	Het
Clp1	T	A	2: 84,556,322 (GRCm39)	K53*	probably null	Het
Crhbp	T	A	13: 95,578,737 (GRCm39)	D128V	probably damaging	Het
Crispld1	T	A	1: 17,820,495 (GRCm39)	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,677,526 (GRCm39)	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,307,456 (GRCm39)	M149L	probably benign	Het
Ddx24	T	A	12: 103,390,547 (GRCm39)	Q59L	possibly damaging	Het
Ddx27	A	G	2: 166,871,439 (GRCm39)	H512R	possibly damaging	Het
Dlgap4	T	A	2: 156,604,821 (GRCm39)	*993K	probably null	Het
Dmxl2	A	T	9: 54,330,643 (GRCm39)		probably null	Het
Dus4l	A	T	12: 31,696,712 (GRCm39)	F88L	probably damaging	Het
Fat3	T	A	9: 16,288,219 (GRCm39)	K435*	probably null	Het
Fsip2	T	C	2: 82,816,908 (GRCm39)	C4214R	probably benign	Het
Garin5a	T	G	7: 44,150,428 (GRCm39)	S207A	probably damaging	Het
Gfral	T	C	9: 76,072,087 (GRCm39)	*394W	probably null	Het
Glis1	T	C	4: 107,476,832 (GRCm39)	S518P	probably damaging	Het
H2-T10	A	G	17: 36,430,079 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,278,679 (GRCm39)	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,665,837 (GRCm39)	F87S	probably damaging	Het
Ints13	A	C	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,595,609 (GRCm39)	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,765,877 (GRCm39)		probably benign	Het
Kmt5b	A	T	19: 3,836,538 (GRCm39)	H25L	probably benign	Het
Krt28	A	T	11: 99,262,210 (GRCm39)	M260K	probably damaging	Het
Krt79	A	G	15: 101,838,220 (GRCm39)	S512P	probably damaging	Het
Lama1	A	T	17: 68,075,293 (GRCm39)		probably null	Het
Maneal	T	C	4: 124,750,937 (GRCm39)	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,971,427 (GRCm39)	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,119,297 (GRCm39)	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,219,936 (GRCm39)		probably null	Het
Mrpl46	C	G	7: 78,430,242 (GRCm39)	W176S	probably damaging	Het
Muc19	A	G	15: 91,768,468 (GRCm39)		noncoding transcript	Het
Mup3	T	G	4: 62,002,809 (GRCm39)	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,781,911 (GRCm39)	H1699R	probably benign	Het
Ndrg2	T	A	14: 52,144,420 (GRCm39)	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,693,037 (GRCm39)	V688D	probably benign	Het
Ninj2	T	C	6: 120,175,670 (GRCm39)	I101T	probably benign	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Npsr1	T	A	9: 24,224,510 (GRCm39)	L296I	probably damaging	Het
Or10d5	A	G	9: 39,861,983 (GRCm39)	L28P	probably benign	Het
Or52r1b	G	T	7: 102,691,517 (GRCm39)	R272L	possibly damaging	Het
Pacsin1	T	A	17: 27,927,022 (GRCm39)	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,330,420 (GRCm39)	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,153,443 (GRCm39)	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,624,853 (GRCm39)	S728T	probably benign	Het
Phyhd1	T	A	2: 30,167,022 (GRCm39)	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,212,513 (GRCm39)	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,735,309 (GRCm39)	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,852,425 (GRCm39)	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,041,638 (GRCm39)	T1722I	probably damaging	Het
Pole3	T	C	4: 62,442,668 (GRCm39)	N53S	probably damaging	Het
Ptk6	A	T	2: 180,841,488 (GRCm39)	N140K	possibly damaging	Het
Rab12	C	T	17: 66,804,418 (GRCm39)	R180H	probably damaging	Het
Rab36	G	T	10: 74,888,311 (GRCm39)	V252L	probably benign	Het
Ranbp3	T	C	17: 57,008,543 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 79,011,308 (GRCm39)	L259P	probably damaging	Het
Rigi	T	A	4: 40,222,140 (GRCm39)	M380L	probably benign	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scd2	T	C	19: 44,288,142 (GRCm39)	F178S	probably damaging	Het
Shmt2	A	G	10: 127,356,250 (GRCm39)	S87P	probably damaging	Het
Slf1	T	A	13: 77,194,823 (GRCm39)	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,203,874 (GRCm39)	Y540*	probably null	Het
Srpk2	T	A	5: 23,730,697 (GRCm39)	Q274L	possibly damaging	Het
Stradb	T	A	1: 59,031,901 (GRCm39)	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,592 (GRCm39)	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,521,450 (GRCm39)	T63A	probably benign	Het
Ticrr	G	A	7: 79,339,715 (GRCm39)		probably null	Het
Ticrr	T	A	7: 79,345,044 (GRCm39)	C1636*	probably null	Het
Tln2	A	G	9: 67,219,147 (GRCm39)	I266T	probably damaging	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,065,777 (GRCm39)	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692 (GRCm39)	E75*	probably null	Het
Ttn	T	G	2: 76,580,922 (GRCm39)	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,119,349 (GRCm39)	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,016,488 (GRCm39)	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,423,281 (GRCm39)	S21A	unknown	Het
Usp17lb	C	T	7: 104,490,415 (GRCm39)	G170R	probably damaging	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vcan	T	A	13: 89,836,790 (GRCm39)	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,453,919 (GRCm39)	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,665,062 (GRCm39)	V16I	probably benign	Het
Xdh	T	C	17: 74,250,880 (GRCm39)	D24G	possibly damaging	Het
Xylb	T	A	9: 119,190,198 (GRCm39)	H68Q	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
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
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
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'- TTGAAGTCCAGTGCCTCCTG -3'
(R):5'- TGGCTCTCCATCATACATTCAAG -3'

Sequencing Primer
(F):5'- CTCTGAGGCCCTAGATGGTG -3'
(R):5'- AAGTTACTTCTCCGATGTCGCAG -3'

Posted On

2016-10-24