Mutagenetix > Incidental Mutation

Incidental Mutation 'R4155:Ecd'

315108

Institutional Source

Beutler Lab

Gene Symbol

Ecd

Ensembl Gene

ENSMUSG00000021810

Gene Name

ecdysoneless cell cycle regulator

Synonyms

5730461K03Rik

MMRRC Submission

040999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4155 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,644,018 (GRCm39)	F69I	possibly damaging	Het
Akt3	A	G	1: 176,924,543 (GRCm39)	I184T	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Armc2	A	G	10: 41,887,863 (GRCm39)	V40A	probably damaging	Het
Ash2l	A	G	8: 26,307,482 (GRCm39)	Y485H	probably damaging	Het
Atr	T	A	9: 95,770,177 (GRCm39)	C1202*	probably null	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,903,934 (GRCm39)	S1242R	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Bsx	A	G	9: 40,787,632 (GRCm39)	E102G	probably benign	Het
Casq2	A	T	3: 102,040,418 (GRCm39)		probably null	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Copa	T	G	1: 171,928,992 (GRCm39)	N251K	probably damaging	Het
Cst8	C	A	2: 148,641,996 (GRCm39)	A31E	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Fbn2	C	A	18: 58,156,359 (GRCm39)	E2487*	probably null	Het
Hoxd9	A	G	2: 74,529,667 (GRCm39)	I308V	probably benign	Het
Ica1l	G	A	1: 60,053,052 (GRCm39)	A162V	possibly damaging	Het
Kcnj15	A	T	16: 95,097,166 (GRCm39)	K263*	probably null	Het
Mettl4	T	C	17: 95,048,003 (GRCm39)	M213V	probably benign	Het
Nalf1	T	A	8: 9,283,023 (GRCm39)	Y342F	possibly damaging	Het
Ncan	C	A	8: 70,562,727 (GRCm39)	E510D	possibly damaging	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Or14a259	T	A	7: 86,013,270 (GRCm39)	I92L	probably benign	Het
Or4c127	A	G	2: 89,833,004 (GRCm39)	S85G	probably benign	Het
Or52s19	T	C	7: 103,008,363 (GRCm39)	T13A	probably benign	Het
Or8d1b	A	T	9: 38,887,451 (GRCm39)	T160S	probably damaging	Het
P2rx5	A	G	11: 73,062,655 (GRCm39)	T455A	probably damaging	Het
Pcdh1	T	A	18: 38,336,159 (GRCm39)	T159S	probably damaging	Het
Poln	A	G	5: 34,166,993 (GRCm39)	V755A	possibly damaging	Het
Pou4f1	C	T	14: 104,705,153 (GRCm39)	S6N	possibly damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Samd4	T	A	14: 47,290,403 (GRCm39)	M170K	possibly damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Tmcc1	C	T	6: 116,110,765 (GRCm39)	G176D	probably benign	Het
Tmem232	A	T	17: 65,743,328 (GRCm39)	M321K	probably damaging	Het
Tnfsf11	A	G	14: 78,537,309 (GRCm39)	M118T	probably benign	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Ttc27	T	G	17: 75,147,455 (GRCm39)	I669S	probably benign	Het
Uaca	A	G	9: 60,779,035 (GRCm39)	S1141G	probably benign	Het
Usp34	T	A	11: 23,367,676 (GRCm39)	V1671E	probably damaging	Het
Wdr64	T	A	1: 175,597,172 (GRCm39)	L73H	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	probably 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
R4156:Ecd	UTSW	14	20,374,632 (GRCm39)	missense	probably damaging	1.00
R4157: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'- TGGTGAAGCTTCTGCCCATG -3'
(R):5'- GTCCCTGAATTACTGTTTTGGGAAAG -3'

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

Posted On

2015-05-14