Mutagenetix > Incidental Mutation

Incidental Mutation 'R1069:Ecd'

86137

Institutional Source

Beutler Lab

Gene Symbol

Ecd

Ensembl Gene

ENSMUSG00000021810

Gene Name

ecdysoneless cell cycle regulator

Synonyms

MMRRC Submission

039155-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1069 (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 20333436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 312 (C312R)

Ref Sequence

ENSEMBL: ENSMUSP00000022344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022344] [ENSMUST00000223955]

AlphaFold

Q9CS74

Predicted Effect

probably damaging
Transcript: ENSMUST00000022344
AA Change: C312R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022344
Gene: ENSMUSG00000021810
AA Change: C312R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225487

Meta Mutation Damage Score

0.8568

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

100% (33/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610203C20Rik	G	A	9: 41,590,298	R151H	possibly damaging	Het
4921524L21Rik	A	G	18: 6,624,037	N106S	probably benign	Het
Akr1c21	C	A	13: 4,575,334		probably benign	Het
Alpk2	G	A	18: 65,305,014	R1570C	probably benign	Het
Atp8b3	G	A	10: 80,531,018	R249C	probably damaging	Het
Cacnb4	C	A	2: 52,455,611	R252I	probably damaging	Het
Cars	T	C	7: 143,570,107	T480A	probably benign	Het
Ccnf	A	T	17: 24,223,997	C745*	probably null	Het
Ccr8	A	G	9: 120,094,217	I133V	probably benign	Het
Cndp1	G	A	18: 84,634,652		probably benign	Het
Dgkq	T	C	5: 108,656,037		probably benign	Het
Epp13	A	T	7: 6,255,922		probably null	Het
Gstm1	T	C	3: 108,012,748	S226G	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hacd4	T	A	4: 88,437,502	I49L	probably damaging	Het
Hid1	T	C	11: 115,356,765	N269S	probably damaging	Het
Ifitm3	A	T	7: 141,009,900		probably benign	Het
Kctd9	C	T	14: 67,729,420		probably benign	Het
Kif20b	T	C	19: 34,950,851	L1131P	probably damaging	Het
Kif2c	T	C	4: 117,178,153	T33A	probably damaging	Het
Lipc	T	C	9: 70,823,537	T38A	probably benign	Het
Lrguk	A	C	6: 34,048,883	I205L	possibly damaging	Het
Ncapg	T	A	5: 45,675,930		probably benign	Het
Ptprd	A	G	4: 75,998,487		probably benign	Het
Ptprd	T	A	4: 76,100,633	K635*	probably null	Het
Sap130	G	A	18: 31,711,629	V898I	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Svep1	C	T	4: 58,070,239	G2516R	probably damaging	Het
Tas2r131	C	T	6: 132,957,825	R7K	probably benign	Het
Tfpi	A	G	2: 84,453,792		probably benign	Het
Trim80	T	C	11: 115,448,083	C580R	probably damaging	Het
Ttn	T	A	2: 76,969,929	I312F	unknown	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
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
R4156: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'- CCACATCTGGCCTCCATACATGAGA -3'
(R):5'- AACACACATTCCCTTGTGTCTAGTCAC -3'

Sequencing Primer
(F):5'- aacacacatcacacacacac -3'
(R):5'- AGTCACCTAGTTCTAGATTGTTGC -3'

Posted On

2013-11-18