Mutagenetix > Incidental Mutation

Incidental Mutation 'R2280:Ecsit'

243048

Institutional Source

Beutler Lab

Gene Symbol

Ecsit

Ensembl Gene

ENSMUSG00000066839

Gene Name

ECSIT signalling integrator

Synonyms

Sitpec

MMRRC Submission

040279-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21983542-21996734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21987836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 68 (V68I)

Ref Sequence

ENSEMBL: ENSMUSP00000136247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098937] [ENSMUST00000177967] [ENSMUST00000179422] [ENSMUST00000180180]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098937
AA Change: V68I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: V68I

Domain	Start	End	E-Value	Type
Pfam:ECSIT	39	267	5e-106	PFAM
ECIST_Cterm	269	394	2.19e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177967

SMART Domains

Protein: ENSMUSP00000135936
Gene: ENSMUSG00000066839

Domain	Start	End	E-Value	Type
Pfam:ECSIT	1	197	4.4e-101	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179422
AA Change: V68I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: V68I

Domain	Start	End	E-Value	Type
Pfam:ECSIT	39	267	5e-106	PFAM
ECIST_Cterm	269	394	2.19e-72	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180180
AA Change: V68I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: V68I

Domain	Start	End	E-Value	Type
Pfam:ECSIT	44	266	6.2e-108	PFAM
ECIST_Cterm	269	394	2.19e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216270

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice die around the stage of gastrulation showing abnormal epiblast patterning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,654,955 (GRCm39)	N2698S	probably damaging	Het
Ankrd37	T	C	8: 46,452,413 (GRCm39)	T19A	probably benign	Het
Anks1b	A	C	10: 90,802,164 (GRCm39)	K353N	probably damaging	Het
Ano3	T	A	2: 110,513,104 (GRCm39)	E630D	probably benign	Het
Ap3b1	A	G	13: 94,664,724 (GRCm39)	M888V	unknown	Het
Apoh	T	A	11: 108,300,006 (GRCm39)	Y218*	probably null	Het
Arhgef19	G	A	4: 140,973,827 (GRCm39)	G105S	probably benign	Het
Brd7	A	G	8: 89,069,385 (GRCm39)	S437P	probably benign	Het
Cacna2d4	A	T	6: 119,327,002 (GRCm39)	Q1089L	possibly damaging	Het
Ccdc168	T	A	1: 44,095,620 (GRCm39)	H1826L	possibly damaging	Het
Ccser1	A	T	6: 61,547,799 (GRCm39)	M49L	probably damaging	Het
Cep170	A	T	1: 176,602,071 (GRCm39)	V345E	probably benign	Het
Chaf1b	T	G	16: 93,688,459 (GRCm39)	Y185D	probably damaging	Het
Clasp1	C	T	1: 118,492,913 (GRCm39)	P1153S	probably benign	Het
Clvs2	A	T	10: 33,404,496 (GRCm39)	I240N	probably damaging	Het
Cox8c	A	T	12: 102,865,713 (GRCm39)	H30L	possibly damaging	Het
Crtac1	G	A	19: 42,272,006 (GRCm39)	L646F	unknown	Het
Cyp46a1	T	C	12: 108,321,730 (GRCm39)	S319P	probably damaging	Het
Dcdc5	G	A	2: 106,202,867 (GRCm39)		noncoding transcript	Het
Ddx4	T	C	13: 112,757,190 (GRCm39)	I377V	probably benign	Het
Dis3l	T	A	9: 64,225,076 (GRCm39)	N407I	possibly damaging	Het
Dysf	A	C	6: 84,041,476 (GRCm39)	T161P	probably damaging	Het
Ei24	A	G	9: 36,693,635 (GRCm39)		probably null	Het
Fbxl19	A	T	7: 127,347,540 (GRCm39)	D32V	possibly damaging	Het
Fgd5	G	A	6: 91,965,926 (GRCm39)	V562M	possibly damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Frem2	A	G	3: 53,479,844 (GRCm39)	C1950R	probably damaging	Het
Fryl	T	C	5: 73,198,707 (GRCm39)	D2640G	possibly damaging	Het
Ganab	T	C	19: 8,886,832 (GRCm39)	V306A	probably damaging	Het
Gbx2	A	T	1: 89,858,359 (GRCm39)	V40D	probably damaging	Het
Gcc2	C	A	10: 58,105,502 (GRCm39)	T210K	probably benign	Het
Gcn1	T	A	5: 115,750,789 (GRCm39)	M1991K	probably damaging	Het
Gpr18	T	A	14: 122,150,017 (GRCm39)	T3S	probably benign	Het
Herc2	A	C	7: 55,787,019 (GRCm39)	K1621N	possibly damaging	Het
Hspg2	A	G	4: 137,249,354 (GRCm39)	E1300G	probably damaging	Het
Krtap19-5	C	T	16: 88,693,231 (GRCm39)	C27Y	unknown	Het
Lrrc3b	A	T	14: 15,358,076 (GRCm38)	L177M	probably damaging	Het
Mthfd1	T	C	12: 76,327,266 (GRCm39)	I118T	probably benign	Het
Ncoa4-ps	A	G	12: 119,226,573 (GRCm39)		noncoding transcript	Het
Nphp4	A	G	4: 152,641,500 (GRCm39)	K1094E	possibly damaging	Het
Npy1r	C	T	8: 67,156,711 (GRCm39)	L44F	possibly damaging	Het
Or10aa1	C	A	1: 173,870,087 (GRCm39)	S190R	probably benign	Het
Pcx	C	A	19: 4,654,571 (GRCm39)	R328S	probably damaging	Het
Pde6a	T	C	18: 61,395,505 (GRCm39)	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,356,311 (GRCm39)	Y209F	probably damaging	Het
Plch2	A	T	4: 155,068,766 (GRCm39)	S1182T	probably damaging	Het
Pum1	A	T	4: 130,493,322 (GRCm39)	I696F	probably damaging	Het
Pxdn	T	C	12: 30,034,905 (GRCm39)	V254A	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rsph4a	A	T	10: 33,787,595 (GRCm39)	I584L	probably benign	Het
Scamp5	A	G	9: 57,352,722 (GRCm39)	V149A	probably benign	Het
Sike1	A	G	3: 102,904,694 (GRCm39)	H134R	possibly damaging	Het
Slc12a9	A	G	5: 137,330,474 (GRCm39)	L77P	probably damaging	Het
Spmap2l	T	C	5: 77,207,214 (GRCm39)	I324T	probably damaging	Het
Taar7f	G	A	10: 23,925,417 (GRCm39)	A4T	probably benign	Het
Tmem216	T	A	19: 10,529,237 (GRCm39)	T104S	probably damaging	Het
Tpsg1	C	T	17: 25,593,016 (GRCm39)	R94C	probably damaging	Het
Utp20	A	T	10: 88,661,365 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,028,628 (GRCm39)	Q82R	probably benign	Het
Zfp12	A	G	5: 143,231,248 (GRCm39)	Y525C	probably damaging	Het
Zfp532	T	C	18: 65,757,783 (GRCm39)	V572A	probably damaging	Het
Zfyve26	T	A	12: 79,321,814 (GRCm39)	Q935L	probably damaging	Het

Other mutations in Ecsit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Ecsit	APN	9	21,984,310 (GRCm39)	missense	probably benign	0.00
IGL02114:Ecsit	APN	9	21,989,440 (GRCm39)	splice site	probably benign
IGL02457:Ecsit	APN	9	21,989,500 (GRCm39)	missense	probably damaging	0.98
IGL03365:Ecsit	APN	9	21,987,822 (GRCm39)	missense	probably damaging	0.99
charade	UTSW	9	21,984,780 (GRCm39)	missense	probably damaging	1.00
hoax	UTSW	9	21,987,796 (GRCm39)	missense	probably benign	0.00
PIT4458001:Ecsit	UTSW	9	21,987,580 (GRCm39)	missense	probably damaging	1.00
R0051:Ecsit	UTSW	9	21,987,584 (GRCm39)	missense	probably benign	0.01
R0051:Ecsit	UTSW	9	21,987,584 (GRCm39)	missense	probably benign	0.01
R0684:Ecsit	UTSW	9	21,987,796 (GRCm39)	missense	probably benign	0.00
R1703:Ecsit	UTSW	9	21,986,107 (GRCm39)	missense	probably damaging	1.00
R1903:Ecsit	UTSW	9	21,987,815 (GRCm39)	missense	possibly damaging	0.74
R1916:Ecsit	UTSW	9	21,983,817 (GRCm39)	missense	probably benign
R2281:Ecsit	UTSW	9	21,987,836 (GRCm39)	missense	possibly damaging	0.73
R5983:Ecsit	UTSW	9	21,989,443 (GRCm39)	critical splice donor site	probably null
R6157:Ecsit	UTSW	9	21,985,987 (GRCm39)	missense	probably damaging	1.00
R6474:Ecsit	UTSW	9	21,985,981 (GRCm39)	missense	possibly damaging	0.91
R7977:Ecsit	UTSW	9	21,984,780 (GRCm39)	missense	probably damaging	1.00
R7987:Ecsit	UTSW	9	21,984,780 (GRCm39)	missense	probably damaging	1.00
R8050:Ecsit	UTSW	9	21,987,592 (GRCm39)	missense	probably benign	0.03
X0024:Ecsit	UTSW	9	21,986,111 (GRCm39)	critical splice acceptor site	probably null
X0025:Ecsit	UTSW	9	21,983,700 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGACCTCCTTGGGGAAAAC -3'
(R):5'- AGGTCCTCCATGATGTCCAG -3'

Sequencing Primer
(F):5'- TCCAGCAGCAGGTTGTATAC -3'
(R):5'- CTCCATGATGTCCAGGGTAC -3'

Posted On

2014-10-16