Mutagenetix > Incidental Mutation

Incidental Mutation 'R4156:Ecd'

315556

Institutional Source

Beutler Lab

Gene Symbol

Ecd

Ensembl Gene

ENSMUSG00000021810

Gene Name

ecdysoneless cell cycle regulator

Synonyms

MMRRC Submission

040862-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20319852-20348121 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20324564 bp (GRCm38)

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: 97.4%
20x: 95.6%

Validation Efficiency

96% (44/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,938,263	F69I	possibly damaging	Het
Acot12	C	T	13: 91,784,763	L552F	probably benign	Het
Aff4	T	A	11: 53,410,899		probably benign	Het
Aldh18a1	A	G	19: 40,551,281	V750A	probably damaging	Het
Anapc1	A	G	2: 128,627,229		probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Bcl11b	A	T	12: 107,917,425		probably null	Het
Ccpg1	C	A	9: 73,012,167	Q355K	probably benign	Het
Cdc42bpb	G	A	12: 111,294,139	P1702S	probably benign	Het
Ddx20	G	T	3: 105,678,933	Q699K	probably benign	Het
Etaa1	C	T	11: 17,940,281	R860Q	probably damaging	Het
Ffar2	T	A	7: 30,819,668	Y149F	probably damaging	Het
Gamt	T	A	10: 80,260,724	R60*	probably null	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm6871	T	C	7: 41,546,086	N302S	probably damaging	Het
Hps3	A	G	3: 20,029,229	S135P	probably damaging	Het
Ifi203	T	A	1: 173,936,540	N122I	probably damaging	Het
Leng9	T	C	7: 4,149,434	D81G	possibly damaging	Het
Lrrc23	T	A	6: 124,770,841	K262*	probably null	Het
Morc2b	T	A	17: 33,138,427	T124S	probably benign	Het
Mroh1	G	A	15: 76,402,126		probably null	Het
Naxe	T	C	3: 88,056,704	K240R	probably benign	Het
Ncan	C	A	8: 70,110,077	E510D	possibly damaging	Het
Ndufs4	A	T	13: 114,307,854	S129R	probably benign	Het
Olfr1062	C	A	2: 86,423,200	V159L	possibly damaging	Het
Olfr1098	T	C	2: 86,922,878	Y218C	probably damaging	Het
Olfr186	A	T	16: 59,027,568	F113Y	probably damaging	Het
Oog2	A	G	4: 144,193,953		probably benign	Het
Papola	G	A	12: 105,800,751		probably null	Het
Plec	A	G	15: 76,172,253	S4517P	probably damaging	Het
Rpap1	C	T	2: 119,774,179	R416H	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Rxfp2	G	A	5: 150,051,555	V210I	probably benign	Het
Ryr3	T	C	2: 112,653,675	D3909G	probably damaging	Het
Spata31d1a	T	A	13: 59,705,047	K76N	possibly damaging	Het
Srgn	A	G	10: 62,497,834	F55L	possibly damaging	Het
Tmem54	G	A	4: 129,110,711	R151Q	probably damaging	Het
Tns1	T	A	1: 73,914,631	N1848Y	probably damaging	Het
Trim33	G	T	3: 103,310,314	V192L	possibly damaging	Het
Trpm5	G	T	7: 143,089,055	L52I	probably benign	Het
Uaca	A	G	9: 60,871,753	S1141G	probably benign	Het
Vmn1r63	T	C	7: 5,803,532	T34A	possibly damaging	Het
Vmn2r50	T	C	7: 10,040,382	K529R	probably benign	Het
Vmn2r9	T	C	5: 108,847,877	T302A	possibly damaging	Het
Ylpm1	T	C	12: 85,057,403		probably benign	Het
Zfp410	G	A	12: 84,327,432	R181H	probably damaging	Het

Other mutations in Ecd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02171:Ecd	APN	14	20320827	missense	probably damaging	0.99
IGL02458:Ecd	APN	14	20324477	missense	probably benign	0.34
R0335:Ecd	UTSW	14	20320734	missense	probably benign
R0520:Ecd	UTSW	14	20328664	missense	probably benign	0.00
R1036:Ecd	UTSW	14	20333318	unclassified	probably benign
R1069:Ecd	UTSW	14	20333436	missense	probably damaging	1.00
R1315:Ecd	UTSW	14	20337060	missense	probably benign	0.16
R1478:Ecd	UTSW	14	20346657	nonsense	probably null
R1637:Ecd	UTSW	14	20346692	missense	probably damaging	1.00
R1891:Ecd	UTSW	14	20338159	missense	probably damaging	0.97
R2884:Ecd	UTSW	14	20320773	missense	probably damaging	1.00
R4155:Ecd	UTSW	14	20324564	missense	probably damaging	1.00
R4157:Ecd	UTSW	14	20324564	missense	probably damaging	1.00
R5026:Ecd	UTSW	14	20337030	missense	probably damaging	1.00
R5082:Ecd	UTSW	14	20324368	splice site	probably null
R5485:Ecd	UTSW	14	20338205	missense	probably benign	0.05
R5988:Ecd	UTSW	14	20324561	missense	probably damaging	1.00
R6126:Ecd	UTSW	14	20338425	splice site	probably null
R6136:Ecd	UTSW	14	20320791	missense	probably damaging	1.00
R7837:Ecd	UTSW	14	20333332	missense	probably damaging	1.00
R8052:Ecd	UTSW	14	20329952	critical splice donor site	probably null
R8432:Ecd	UTSW	14	20320930	missense	probably benign	0.00
R8438:Ecd	UTSW	14	20338465	missense	possibly damaging	0.90
R8856:Ecd	UTSW	14	20337072	missense	probably damaging	1.00
R9566:Ecd	UTSW	14	20343300	nonsense	probably null
Z1177:Ecd	UTSW	14	20337019	missense	possibly damaging	0.87

Predicted Primers

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

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

Posted On

2015-05-14