Mutagenetix > Incidental Mutations

Incidental Mutation 'R6474:Ecsit'

516737

Institutional Source

Beutler Lab

Gene Symbol

Ecsit

Ensembl Gene

ENSMUSG00000066839

Gene Name

ECSIT signalling integrator

Synonyms

Sitpec

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6474 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22072246-22085438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22074685 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 145 (V145A)

Ref Sequence

ENSEMBL: ENSMUSP00000135936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043922] [ENSMUST00000098937] [ENSMUST00000177967] [ENSMUST00000179422] [ENSMUST00000179605] [ENSMUST00000180180]

Predicted Effect

probably benign
Transcript: ENSMUST00000043922

SMART Domains

Protein: ENSMUSP00000045895
Gene: ENSMUSG00000038895

Domain	Start	End	E-Value	Type
AT_hook	29	41	2.28e0	SMART
low complexity region	105	116	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	209	232	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC
ZnF_C2H2	467	492	4.11e-2	SMART
ZnF_C2H2	498	522	4.47e-3	SMART
ZnF_C2H2	528	550	4.87e-4	SMART
ZnF_C2H2	556	578	2.99e-4	SMART
ZnF_C2H2	586	609	1.31e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098937
AA Change: V215A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: V215A

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: ENSMUST00000177967
AA Change: V145A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135936
Gene: ENSMUSG00000066839
AA Change: V145A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179422
AA Change: V215A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: V215A

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: ENSMUST00000179605

SMART Domains

Protein: ENSMUSP00000137064
Gene: ENSMUSG00000038895

Domain	Start	End	E-Value	Type
AT_hook	29	41	2.28e0	SMART
low complexity region	105	116	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	209	232	N/A	INTRINSIC
low complexity region	451	464	N/A	INTRINSIC
ZnF_C2H2	475	500	4.11e-2	SMART
ZnF_C2H2	506	530	4.47e-3	SMART
ZnF_C2H2	536	558	4.87e-4	SMART
ZnF_C2H2	564	586	2.99e-4	SMART
ZnF_C2H2	594	617	1.31e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180180
AA Change: V215A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: V215A

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

probably benign
Transcript: ENSMUST00000213738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216916

Meta Mutation Damage Score

0.4322

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	A	8: 71,461,715	N90Y	probably damaging	Het
Alkal1	T	C	1: 6,389,446	V82A	probably damaging	Het
Ascc3	T	C	10: 50,748,836	S1607P	probably benign	Het
Ccny	A	T	18: 9,345,427	L149H	probably damaging	Het
Clptm1	T	C	7: 19,635,837	N383D	possibly damaging	Het
Clrn2	T	A	5: 45,463,732	M156K	probably benign	Het
Coro2b	T	A	9: 62,426,628	H328L	probably benign	Het
Echs1	A	T	7: 140,108,142	M250K	probably benign	Het
Fas	G	A	19: 34,316,569	G108D	probably damaging	Het
Folh1	A	G	7: 86,775,756	W2R	probably damaging	Het
Gba	C	T	3: 89,204,081	P51L	probably benign	Het
Grik2	C	T	10: 49,132,680	M770I	probably benign	Het
Hcst	T	C	7: 30,417,825	N74S	probably damaging	Het
Hdac9	T	A	12: 34,431,991		probably null	Het
Hsfy2	T	A	1: 56,636,991	D129V	probably damaging	Het
Htt	T	C	5: 34,824,895	V941A	probably benign	Het
Naip5	A	G	13: 100,214,663	V1279A	possibly damaging	Het
Neb	T	A	2: 52,280,612	M1683L	probably benign	Het
Nudt21	C	T	8: 94,019,654	V139I	probably benign	Het
Olfr513	T	C	7: 108,755,029	Y58H	probably damaging	Het
Pex2	A	G	3: 5,561,131	F206S	probably damaging	Het
Plek2	C	A	12: 78,896,291	R77L	probably benign	Het
Ppfia1	A	T	7: 144,506,205	D623E	possibly damaging	Het
Ppm1l	T	A	3: 69,553,041	I317N	probably damaging	Het
Prkacb	T	A	3: 146,755,724	T36S	probably damaging	Het
Sphkap	T	A	1: 83,278,823	I115F	probably damaging	Het
Sprtn	G	T	8: 124,899,134	E95*	probably null	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tcap	C	A	11: 98,384,177	Q46K	probably benign	Het
Thada	T	C	17: 84,443,911	I546V	possibly damaging	Het
Tubal3	T	A	13: 3,933,107	S296T	probably benign	Het
Ube3a	A	G	7: 59,287,024	N683D	probably damaging	Het
Vmn2r82	T	G	10: 79,379,037	L285V	possibly damaging	Het
Zfp871	T	C	17: 32,775,673	D157G	possibly damaging	Het

Other mutations in Ecsit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Ecsit	APN	9	22073014	missense	probably benign	0.00
IGL02114:Ecsit	APN	9	22078144	splice site	probably benign
IGL02457:Ecsit	APN	9	22078204	missense	probably damaging	0.98
IGL03365:Ecsit	APN	9	22076526	missense	probably damaging	0.99
charade	UTSW	9	22073484	missense	probably damaging	1.00
hoax	UTSW	9	22076500	missense	probably benign	0.00
PIT4458001:Ecsit	UTSW	9	22076284	missense	probably damaging	1.00
R0051:Ecsit	UTSW	9	22076288	missense	probably benign	0.01
R0051:Ecsit	UTSW	9	22076288	missense	probably benign	0.01
R0684:Ecsit	UTSW	9	22076500	missense	probably benign	0.00
R1703:Ecsit	UTSW	9	22074811	missense	probably damaging	1.00
R1903:Ecsit	UTSW	9	22076519	missense	possibly damaging	0.74
R1916:Ecsit	UTSW	9	22072521	missense	probably benign
R2280:Ecsit	UTSW	9	22076540	missense	possibly damaging	0.73
R2281:Ecsit	UTSW	9	22076540	missense	possibly damaging	0.73
R5983:Ecsit	UTSW	9	22078147	critical splice donor site	probably null
R6157:Ecsit	UTSW	9	22074691	missense	probably damaging	1.00
R7977:Ecsit	UTSW	9	22073484	missense	probably damaging	1.00
R7987:Ecsit	UTSW	9	22073484	missense	probably damaging	1.00
R8050:Ecsit	UTSW	9	22076296	missense	probably benign	0.03
X0024:Ecsit	UTSW	9	22074815	critical splice acceptor site	probably null
X0025:Ecsit	UTSW	9	22072404	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATAGACTAAGACAGGTCCAACTG -3'
(R):5'- TGTTCTTACTGACTTCAAACTTGTG -3'

Sequencing Primer
(F):5'- ACGATCACGGTCACTGTCAG -3'
(R):5'- GTTTAACAAGTCCTGGATCTGC -3'

Posted On

2018-05-21