Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Ep400'

488809

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

mDomino, 1700020J09Rik, p400

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110664373-110770717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110756703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 10 (V10D)

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: V10D

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
AA Change: V10D

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

possibly damaging
Transcript: ENSMUST00000112433
AA Change: V10D

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108052
Gene: ENSMUSG00000029505
AA Change: V10D

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: V10D

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
AA Change: V10D

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: V10D

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
AA Change: V10D

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: V10D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138369
Gene: ENSMUSG00000029505
AA Change: V10D

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: 99.5%
10x: 98.0%
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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	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
R4921:Ep400	UTSW	5	110,665,810 (GRCm38)	missense	probably damaging	1.00
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
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'- GGCCAACATTCTGCAGTGTG -3'
(R):5'- ATCAGATGCCAGTGTGAATGTAC -3'

Sequencing Primer
(F):5'- CAACATTCTGCAGTGTGATGTTC -3'
(R):5'- CATTCAGTATGTTTTCAGGGCTAC -3'

Posted On

2017-10-10