Mutagenetix > Incidental Mutation

Incidental Mutation 'R4157:Ecd'

315603

Institutional Source

Beutler Lab

Gene Symbol

Ecd

Ensembl Gene

ENSMUSG00000021810

Gene Name

ecdysoneless cell cycle regulator

Synonyms

5730461K03Rik

MMRRC Submission

041000-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20369927-20398189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20374632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 503 (S503P)

Ref Sequence

ENSEMBL: ENSMUSP00000022344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022344]

AlphaFold

Q9CS74

Predicted Effect

probably damaging
Transcript: ENSMUST00000022344
AA Change: S503P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022344
Gene: ENSMUSG00000021810
AA Change: S503P

Domain	Start	End	E-Value	Type
Pfam:SGT1	14	597	4.4e-247	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

95% (52/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality (no time point given). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,070,414 (GRCm39)	R585L	probably damaging	Het
Adamtsl5	C	T	10: 80,181,156 (GRCm39)	R75Q	probably null	Het
Ankrd26	T	A	6: 118,484,782 (GRCm39)	Q1485L	probably damaging	Het
Apbb2	G	A	5: 66,459,947 (GRCm39)	R717*	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,365,591 (GRCm39)	E735G	probably damaging	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
C4b	A	G	17: 34,961,829 (GRCm39)	I139T	probably damaging	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Cdk8	A	T	5: 146,236,259 (GRCm39)		probably benign	Het
Ctif	T	C	18: 75,568,341 (GRCm39)	H599R	probably benign	Het
Degs1	A	G	1: 182,110,192 (GRCm39)	I26T	possibly damaging	Het
Dnajc4	T	C	19: 6,967,208 (GRCm39)	N72S	probably damaging	Het
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Inpp5f	C	T	7: 128,281,423 (GRCm39)		probably benign	Het
Irx4	A	T	13: 73,413,662 (GRCm39)	Q44L	probably benign	Het
Krt9	T	A	11: 100,079,475 (GRCm39)	Y639F	unknown	Het
Lgals9	C	A	11: 78,863,933 (GRCm39)	V71L	possibly damaging	Het
Mdga1	T	C	17: 30,052,317 (GRCm39)	N143S	probably benign	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Nup50l	C	G	6: 96,142,264 (GRCm39)	W260S	possibly damaging	Het
Oog2	A	G	4: 143,920,523 (GRCm39)		probably benign	Het
Orm2	T	A	4: 63,282,222 (GRCm39)	F133L	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pidd1	A	G	7: 141,021,279 (GRCm39)	V333A	possibly damaging	Het
Ppp4r3a	A	G	12: 101,021,878 (GRCm39)	F341L	probably damaging	Het
Rab11fip1	A	T	8: 27,642,175 (GRCm39)	S875T	probably damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx22	T	C	9: 65,975,493 (GRCm39)	Y92C	probably damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Swt1	A	T	1: 151,278,795 (GRCm39)	V454E	probably damaging	Het
Tmem54	G	A	4: 129,004,504 (GRCm39)	R151Q	probably damaging	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	A	G	14: 16,384,491 (GRCm38)	N80S	probably benign	Het
Trim7	T	C	11: 48,738,920 (GRCm39)	V313A	probably benign	Het
Uaca	A	G	9: 60,779,035 (GRCm39)	S1141G	probably benign	Het
Ubr3	T	C	2: 69,790,013 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,597,729 (GRCm39)	V121A	probably benign	Het
Wdr20	G	A	12: 110,704,608 (GRCm39)	R49H	possibly damaging	Het
Ylpm1	T	C	12: 85,104,177 (GRCm39)		probably benign	Het
Zfp398	A	T	6: 47,812,843 (GRCm39)	T5S	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	probably damaging	Het
Zfp523	C	T	17: 28,421,257 (GRCm39)	A367V	probably benign	Het
Zfp748	G	A	13: 67,690,225 (GRCm39)	S345L	possibly damaging	Het

Other mutations in Ecd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02171:Ecd	APN	14	20,370,895 (GRCm39)	missense	probably damaging	0.99
IGL02458:Ecd	APN	14	20,374,545 (GRCm39)	missense	probably benign	0.34
R0335:Ecd	UTSW	14	20,370,802 (GRCm39)	missense	probably benign
R0520:Ecd	UTSW	14	20,378,732 (GRCm39)	missense	probably benign	0.00
R1036:Ecd	UTSW	14	20,383,386 (GRCm39)	unclassified	probably benign
R1069:Ecd	UTSW	14	20,383,504 (GRCm39)	missense	probably damaging	1.00
R1315:Ecd	UTSW	14	20,387,128 (GRCm39)	missense	probably benign	0.16
R1478:Ecd	UTSW	14	20,396,725 (GRCm39)	nonsense	probably null
R1637:Ecd	UTSW	14	20,396,760 (GRCm39)	missense	probably damaging	1.00
R1891:Ecd	UTSW	14	20,388,227 (GRCm39)	missense	probably damaging	0.97
R2884:Ecd	UTSW	14	20,370,841 (GRCm39)	missense	probably damaging	1.00
R4155:Ecd	UTSW	14	20,374,632 (GRCm39)	missense	probably damaging	1.00
R4156:Ecd	UTSW	14	20,374,632 (GRCm39)	missense	probably damaging	1.00
R5026:Ecd	UTSW	14	20,387,098 (GRCm39)	missense	probably damaging	1.00
R5082:Ecd	UTSW	14	20,374,436 (GRCm39)	splice site	probably null
R5485:Ecd	UTSW	14	20,388,273 (GRCm39)	missense	probably benign	0.05
R5988:Ecd	UTSW	14	20,374,629 (GRCm39)	missense	probably damaging	1.00
R6126:Ecd	UTSW	14	20,388,493 (GRCm39)	splice site	probably null
R6136:Ecd	UTSW	14	20,370,859 (GRCm39)	missense	probably damaging	1.00
R7837:Ecd	UTSW	14	20,383,400 (GRCm39)	missense	probably damaging	1.00
R8052:Ecd	UTSW	14	20,380,020 (GRCm39)	critical splice donor site	probably null
R8432:Ecd	UTSW	14	20,370,998 (GRCm39)	missense	probably benign	0.00
R8438:Ecd	UTSW	14	20,388,533 (GRCm39)	missense	possibly damaging	0.90
R8856:Ecd	UTSW	14	20,387,140 (GRCm39)	missense	probably damaging	1.00
R9566:Ecd	UTSW	14	20,393,368 (GRCm39)	nonsense	probably null
Z1177:Ecd	UTSW	14	20,387,087 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GAAGCCTTACCAATCGCTCC -3'
(R):5'- CCCTGAATTACTGTTTTGGGAAAG -3'

Sequencing Primer
(F):5'- CCGCGTGGTGAAGCTTCTG -3'
(R):5'- CTGGCCTTGAACTCAGAGATCTG -3'

Posted On

2015-05-14