Mutagenetix > Incidental Mutation

Incidental Mutation 'R9746:Ep400'

732110

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

1700020J09Rik, p400, mDomino

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110812239-110918583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110889872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 464 (D464N)

Ref Sequence

ENSEMBL: ENSMUSP00000049038 (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: D464N

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
AA Change: D464N

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: D501N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108052
Gene: ENSMUSG00000029505
AA Change: D501N

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: D501N

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
AA Change: D501N

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: D464N

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
AA Change: D464N

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

possibly damaging
Transcript: ENSMUST00000146458
AA Change: D464N

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138369
Gene: ENSMUSG00000029505
AA Change: D464N

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,598 (GRCm39)	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652 (GRCm39)	L153H	probably damaging	Het
Actn4	A	T	7: 28,618,431 (GRCm39)	D76E	probably benign	Het
Afdn	A	C	17: 14,066,782 (GRCm39)	M640L	probably benign	Het
Angpt1	A	T	15: 42,539,837 (GRCm39)	F7L	probably benign	Het
Ap3b2	A	G	7: 81,126,092 (GRCm39)	F373S	probably damaging	Het
Armc2	T	A	10: 41,800,457 (GRCm39)	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,630,197 (GRCm39)	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 55,021,895 (GRCm39)		probably null	Het
Capn8	G	A	1: 182,438,670 (GRCm39)		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,637,081 (GRCm39)	N3103D	probably benign	Het
Chd9	G	A	8: 91,738,063 (GRCm39)	R1565Q	unknown	Het
Cir1	G	A	2: 73,134,152 (GRCm39)	T139I	probably damaging	Het
Cmah	T	C	13: 24,619,673 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,450,800 (GRCm39)	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,801,793 (GRCm39)	T979S	probably benign	Het
Dnah11	T	A	12: 117,842,311 (GRCm39)	K4423*	probably null	Het
Dnajb4	A	G	3: 151,892,320 (GRCm39)	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,072,307 (GRCm39)		probably null	Het
Dtwd1	A	G	2: 125,996,595 (GRCm39)	T27A	probably benign	Het
Epb42	A	T	2: 120,855,091 (GRCm39)	I498N	probably benign	Het
Fhod1	A	G	8: 106,064,048 (GRCm39)	V219A	unknown	Het
Gabrb2	A	T	11: 42,517,436 (GRCm39)	E419D	probably benign	Het
Galnt18	A	T	7: 111,071,168 (GRCm39)	N615K	possibly damaging	Het
Gm29106	T	A	1: 118,127,254 (GRCm39)	H315Q	possibly damaging	Het
Gprin2	G	T	14: 33,917,615 (GRCm39)	Q52K	probably benign	Het
Grm4	A	T	17: 27,657,765 (GRCm39)	Y414N	probably damaging	Het
Gulo	C	A	14: 66,225,630 (GRCm39)		probably null	Het
H2-M1	A	C	17: 36,980,997 (GRCm39)	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,852,951 (GRCm39)	W118R	probably damaging	Het
Hs6st3	G	A	14: 120,106,492 (GRCm39)	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,404,519 (GRCm39)	S547T	possibly damaging	Het
Kank1	G	T	19: 25,386,872 (GRCm39)	V182F	probably damaging	Het
Kif20b	T	A	19: 34,928,149 (GRCm39)	L1137*	probably null	Het
Klhl7	A	G	5: 24,331,818 (GRCm39)		probably null	Het
Krt13	T	A	11: 100,011,987 (GRCm39)	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,290,064 (GRCm39)	V71A	probably benign	Het
Ly6g	T	C	15: 75,030,458 (GRCm39)	V92A	probably benign	Het
Map2k3	G	A	11: 60,822,929 (GRCm39)		probably benign	Het
Mast2	A	C	4: 116,168,927 (GRCm39)	D842E	probably benign	Het
Mpo	T	G	11: 87,694,349 (GRCm39)	M693R	probably benign	Het
Myo15a	C	A	11: 60,378,234 (GRCm39)	S212*	probably null	Het
Nadk2	C	T	15: 9,106,824 (GRCm39)	R37*	probably null	Het
Ncapd3	G	A	9: 26,974,655 (GRCm39)	R709H	probably benign	Het
Nck2	T	A	1: 43,572,892 (GRCm39)	Y55*	probably null	Het
Neurl4	A	G	11: 69,798,301 (GRCm39)	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527 (GRCm39)	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,484,950 (GRCm39)	S148T	probably benign	Het
Nr1d1	T	C	11: 98,661,160 (GRCm39)	T369A	probably benign	Het
Nub1	T	G	5: 24,908,483 (GRCm39)	F411V	probably damaging	Het
Nup188	T	A	2: 30,194,300 (GRCm39)	Y158N	probably damaging	Het
Or2d36	A	T	7: 106,746,660 (GRCm39)	I46F	probably benign	Het
Or5e1	A	G	7: 108,354,639 (GRCm39)	N192S	probably benign	Het
Or5m8	A	G	2: 85,823,091 (GRCm39)	Y310C	probably benign	Het
Or6c6c	A	T	10: 129,541,208 (GRCm39)	I154F	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,928 (GRCm39)	I279K	unknown	Het
Orc2	C	T	1: 58,536,610 (GRCm39)	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,162,743 (GRCm39)	V182D	probably damaging	Het
Parvg	T	G	15: 84,210,424 (GRCm39)	C30W	probably benign	Het
Pcdha1	T	A	18: 37,065,713 (GRCm39)	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,800,242 (GRCm39)	Q635K	probably benign	Het
Pramel26	T	C	4: 143,536,886 (GRCm39)	T482A	probably benign	Het
Psg16	A	G	7: 16,832,086 (GRCm39)	I341V	probably benign	Het
Psme4	C	T	11: 30,826,868 (GRCm39)	Q1796*	probably null	Het
Ptn	T	G	6: 36,692,699 (GRCm39)		probably null	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rasal1	G	A	5: 120,800,358 (GRCm39)	G207D	probably damaging	Het
Rdx	A	G	9: 51,974,878 (GRCm39)	I5V	probably benign	Het
Rpf1	A	G	3: 146,223,533 (GRCm39)	I105T	probably damaging	Het
Rps15a	A	T	7: 117,709,220 (GRCm39)	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,233,641 (GRCm39)	P153L	probably benign	Het
Scaf11	G	A	15: 96,318,298 (GRCm39)	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,082,403 (GRCm39)	E287V	possibly damaging	Het
Sgta	T	C	10: 80,887,118 (GRCm39)	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,025,358 (GRCm39)	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,319,671 (GRCm39)	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,499,145 (GRCm39)	S151T	probably benign	Het
Slc4a8	C	A	15: 100,681,721 (GRCm39)	H111N	probably damaging	Het
Syngr1	G	A	15: 79,975,659 (GRCm39)	R22K	probably benign	Het
Tars2	A	T	3: 95,662,077 (GRCm39)	V25E	probably benign	Het
Tbx15	A	G	3: 99,259,647 (GRCm39)	Y506C	probably damaging	Het
Tgm4	A	T	9: 122,875,634 (GRCm39)	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,255,439 (GRCm39)	E83G	probably damaging	Het
Trp73	G	A	4: 154,165,859 (GRCm39)	T118I	probably damaging	Het
Trpm7	A	G	2: 126,664,578 (GRCm39)	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,729 (GRCm39)	S330L	probably benign	Het
Tub	A	C	7: 108,624,845 (GRCm39)	D199A	probably benign	Het
Uri1	A	C	7: 37,696,110 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,276,120 (GRCm39)	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,136,526 (GRCm39)	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,620,797 (GRCm39)	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,339,773 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 53,001,892 (GRCm39)	D118G	probably damaging	Het
Zfp111	G	A	7: 23,898,067 (GRCm39)	P516S	possibly damaging	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
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
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'- TCATGGGAAGTTAGATGGAATGTACA -3'
(R):5'- AGGAGTAAGGTCAATGTTTGGGA -3'

Sequencing Primer
(F):5'- TTAGATGGAATGTACAGAATCAACTG -3'
(R):5'- AAGGTCAATGTTTGGGATAGGTATG -3'

Posted On

2022-11-14