Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Ecd'

487416

Institutional Source

Beutler Lab

Gene Symbol

Ecd

Ensembl Gene

ENSMUSG00000021810

Gene Name

ecdysoneless cell cycle regulator

Synonyms

MMRRC Submission

044273-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20319852-20348121 bp(-) (GRCm38)

Type of Mutation

splice site (4833 bp from exon)

DNA Base Change (assembly)

T to C at 20338425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022344] [ENSMUST00000223955] [ENSMUST00000224412]

AlphaFold

Q9CS74

Predicted Effect

probably damaging
Transcript: ENSMUST00000022344
AA Change: D132G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022344
Gene: ENSMUSG00000021810
AA Change: D132G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223955

Predicted Effect

probably null
Transcript: ENSMUST00000224412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225487

Meta Mutation Damage Score

0.6565

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dst	T	A	1: 34,228,183	I5080K	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313	R72H	unknown	Het
Gm906	G	T	13: 50,246,290	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011		probably null	Het
Mnx1	G	T	5: 29,478,112	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887		probably null	Het
Olfr530	T	G	7: 140,373,253	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457		probably benign	Het
Panx1	T	A	9: 15,007,790	I258F	probably benign	Het
Pask	T	C	1: 93,314,359	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr1	A	C	7: 29,076,239	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Tex15	A	G	8: 33,573,563	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348		probably benign	Het
Zfp292	T	C	4: 34,808,497	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	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
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
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'- TCAGATTTCCTCGGCACAGGA -3'
(R):5'- TATGGTTTCATATAGGCTTTTCCTGT -3'

Sequencing Primer
(F):5'- GATTTCCTCGGCACAGGAATAATGC -3'
(R):5'- CAGAGCACGTTCTTAATTGCTGAGC -3'

Posted On

2017-10-10