Mutagenetix > Incidental Mutation

Incidental Mutation 'R8314:Ep400'

641559

Institutional Source

Beutler Lab

Gene Symbol

Ep400

Ensembl Gene

ENSMUSG00000029505

Gene Name

E1A binding protein p400

Synonyms

1700020J09Rik, p400, mDomino

MMRRC Submission

067719-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110812239-110918583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110903619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 327 (M327L)

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: M327L

SMART Domains

Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
AA Change: M327L

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 benign
Transcript: ENSMUST00000112433
AA Change: M327L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000108052
Gene: ENSMUSG00000029505
AA Change: M327L

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: M327L

SMART Domains

Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
AA Change: M327L

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: M327L

SMART Domains

Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
AA Change: M327L

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 benign
Transcript: ENSMUST00000146458
AA Change: M327L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138369
Gene: ENSMUSG00000029505
AA Change: M327L

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,777,993 (GRCm39)	T84S	probably benign	Het
4930533K18Rik	A	G	10: 70,711,106 (GRCm39)	T76A	noncoding transcript	Het
Adgrl1	C	T	8: 84,665,018 (GRCm39)	T1235I	probably damaging	Het
Ak4	C	T	4: 101,320,782 (GRCm39)	T197M	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Alox12e	T	C	11: 70,206,998 (GRCm39)	M603V	possibly damaging	Het
Ap3d1	A	T	10: 80,559,373 (GRCm39)	I267N	possibly damaging	Het
Arhgef2	T	A	3: 88,528,600 (GRCm39)	I12N	probably benign	Het
Asnsd1	A	T	1: 53,385,814 (GRCm39)	M520K	probably damaging	Het
B3galt5	T	C	16: 96,116,649 (GRCm39)	L94P	probably damaging	Het
Birc2	T	C	9: 7,872,942 (GRCm39)		probably benign	Het
Cd177	T	C	7: 24,450,013 (GRCm39)	S541G	probably benign	Het
Cdh8	T	C	8: 99,898,011 (GRCm39)	D434G	probably damaging	Het
Cdkn3	A	T	14: 47,007,330 (GRCm39)		silent	Het
Ciita	A	T	16: 10,328,852 (GRCm39)	R379W	probably damaging	Het
Cntrl	T	A	2: 35,065,155 (GRCm39)	M2153K	probably benign	Het
Csmd1	A	T	8: 16,208,258 (GRCm39)	D1232E	probably benign	Het
Cyp4a30b	A	C	4: 115,315,535 (GRCm39)	H252P	probably benign	Het
Dad1	G	A	14: 54,491,269 (GRCm39)	R11W	probably damaging	Het
Ddit3	A	G	10: 127,131,590 (GRCm39)		probably null	Het
Dusp22	G	A	13: 30,892,914 (GRCm39)		probably benign	Het
Dzank1	A	G	2: 144,344,878 (GRCm39)	L293P	probably damaging	Het
Edf1	A	G	2: 25,447,977 (GRCm39)	D5G	probably damaging	Het
Entrep3	T	C	3: 89,095,453 (GRCm39)		probably null	Het
Fam135a	A	T	1: 24,061,002 (GRCm39)	H1341Q	possibly damaging	Het
Fbxl3	C	T	14: 103,326,876 (GRCm39)	V169I	probably benign	Het
Gm4787	A	G	12: 81,425,909 (GRCm39)	L83P	probably damaging	Het
Habp4	A	G	13: 64,332,565 (GRCm39)	E392G	probably damaging	Het
Hspg2	C	A	4: 137,266,986 (GRCm39)	P1997Q	probably benign	Het
Ints9	T	C	14: 65,266,479 (GRCm39)	S444P	probably damaging	Het
Kif18b	G	A	11: 102,803,900 (GRCm39)	S420L	probably benign	Het
Klhl17	T	A	4: 156,318,470 (GRCm39)	M51L	probably benign	Het
Kmt2b	C	T	7: 30,278,347 (GRCm39)	E1555K	probably damaging	Het
Malrd1	T	A	2: 15,757,643 (GRCm39)	D972E	unknown	Het
Mapk8ip3	A	T	17: 25,120,748 (GRCm39)	S805R	probably benign	Het
Mmp13	G	A	9: 7,272,931 (GRCm39)	C97Y	probably damaging	Het
Moxd1	T	A	10: 24,128,438 (GRCm39)	N163K	possibly damaging	Het
Nbea	T	C	3: 55,916,672 (GRCm39)	I863V	probably damaging	Het
Nectin4	A	G	1: 171,212,295 (GRCm39)	T298A	probably benign	Het
Net1	T	C	13: 3,962,672 (GRCm39)		probably benign	Het
Ntn1	T	C	11: 68,276,450 (GRCm39)	D166G	probably damaging	Het
Opa3	C	A	7: 18,978,940 (GRCm39)	A135E	possibly damaging	Het
Or1e31	T	G	11: 73,690,568 (GRCm39)	N5T	noncoding transcript	Het
Or4c3d	T	C	2: 89,882,441 (GRCm39)	T76A	probably benign	Het
Or51v14	T	C	7: 103,261,254 (GRCm39)	Q102R	probably damaging	Het
Or5w14	A	G	2: 87,541,546 (GRCm39)	F235L	probably benign	Het
Or8g30	A	G	9: 39,230,601 (GRCm39)	F103S	probably damaging	Het
Osbpl5	T	C	7: 143,248,833 (GRCm39)	I608V	probably benign	Het
Phc1	A	C	6: 122,297,937 (GRCm39)	S782R	unknown	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pip5k1b	T	A	19: 24,332,563 (GRCm39)	T374S	probably benign	Het
Prkaa1	A	G	15: 5,208,354 (GRCm39)	S541G	probably damaging	Het
Ptpn20	A	G	14: 33,344,504 (GRCm39)	N143D	possibly damaging	Het
Rabep1	A	G	11: 70,784,486 (GRCm39)	D207G	possibly damaging	Het
Rbbp8	G	A	18: 11,853,682 (GRCm39)	M296I	probably benign	Het
Recql4	C	A	15: 76,594,380 (GRCm39)	R46L	probably damaging	Het
Scgb2b18	T	C	7: 32,872,582 (GRCm39)	I74M	probably benign	Het
Shc4	A	G	2: 125,497,536 (GRCm39)	I391T	possibly damaging	Het
Slc38a4	A	G	15: 96,908,190 (GRCm39)	F184L	probably benign	Het
Slc7a6	A	G	8: 106,895,590 (GRCm39)		probably benign	Het
Smim13	G	T	13: 41,426,110 (GRCm39)	G49*	probably null	Het
Tbc1d19	A	G	5: 54,054,389 (GRCm39)	D459G	probably damaging	Het
Tnpo1	T	C	13: 99,021,133 (GRCm39)	N82S	possibly damaging	Het
Tpp2	G	A	1: 43,973,387 (GRCm39)	V47I	probably benign	Het
Umodl1	G	T	17: 31,203,806 (GRCm39)	A540S	probably damaging	Het
Vmn2r83	G	A	10: 79,317,313 (GRCm39)	V519I	possibly damaging	Het
Zfp641	T	C	15: 98,188,464 (GRCm39)	I139V	probably damaging	Het
Zfyve21	A	T	12: 111,789,715 (GRCm39)	I60F	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
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
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'- CAAGAAATCCATCATGTTTCCCTG -3'
(R):5'- TCAGGGCCAGTTGATACAGC -3'

Sequencing Primer
(F):5'- AGGTACTCCTTGAAGACTTCCTTGAG -3'
(R):5'- GTTGATACAGCAACAGCAGC -3'

Posted On

2020-07-28