Mutagenetix > Incidental Mutation

Incidental Mutation 'R7987:Ecsit'

651542

Institutional Source

Beutler Lab

Gene Symbol

Ecsit

Ensembl Gene

ENSMUSG00000066839

Gene Name

ECSIT signalling integrator

Synonyms

Sitpec

MMRRC Submission

046028-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21983542-21996734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21984780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 296 (R296L)

Ref Sequence

ENSEMBL: ENSMUSP00000096537 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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

probably damaging
Transcript: ENSMUST00000098937
AA Change: R296L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: R296L

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

probably damaging
Transcript: ENSMUST00000179422
AA Change: R296L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: R296L

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

probably damaging
Transcript: ENSMUST00000180180
AA Change: R296L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: R296L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213738

Meta Mutation Damage Score

0.8973

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

96% (50/52)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	G	T	2: 32,464,317 (GRCm39)	Q161K	unknown	Het
Acsl5	T	C	19: 55,266,405 (GRCm39)		probably null	Het
Adgre1	T	A	17: 57,754,987 (GRCm39)	I695N	possibly damaging	Het
Ank2	T	C	3: 126,739,356 (GRCm39)	D2176G	unknown	Het
Atp6v0a2	G	A	5: 124,797,050 (GRCm39)	G810D	probably damaging	Het
Bod1l	A	C	5: 41,952,413 (GRCm39)	N2868K	probably damaging	Het
Brd7	T	C	8: 89,060,769 (GRCm39)	T526A	probably benign	Het
C9	T	A	15: 6,496,943 (GRCm39)	Y213*	probably null	Het
Cacna1i	G	A	15: 80,204,553 (GRCm39)		probably null	Het
Card6	T	A	15: 5,130,007 (GRCm39)	N463I	probably damaging	Het
Ccdc81	T	C	7: 89,525,319 (GRCm39)	Y485C	probably damaging	Het
Celsr1	A	G	15: 85,917,194 (GRCm39)	F260L	probably damaging	Het
Dnah8	A	G	17: 30,963,498 (GRCm39)	D2304G	probably damaging	Het
Dnase1	A	G	16: 3,855,834 (GRCm39)	D55G	probably damaging	Het
Entpd8	A	G	2: 24,974,778 (GRCm39)	D403G	probably damaging	Het
Epha2	C	A	4: 141,035,791 (GRCm39)	Q76K	probably damaging	Het
Exoc1	T	A	5: 76,691,432 (GRCm39)	V252E	probably damaging	Het
Fmnl3	T	A	15: 99,225,979 (GRCm39)	H225L	possibly damaging	Het
Gm4565	A	C	7: 22,282,812 (GRCm39)	M2R	probably benign	Het
Gpr146	G	T	5: 139,378,440 (GRCm39)	A81S	possibly damaging	Het
Heg1	C	A	16: 33,541,100 (GRCm39)	S419*	probably null	Het
Hps5	A	C	7: 46,418,475 (GRCm39)	I865S	probably benign	Het
Hsp90ab1	A	C	17: 45,882,532 (GRCm39)	I54S	probably damaging	Het
Hyal4	T	G	6: 24,763,865 (GRCm39)	M342R	probably damaging	Het
Itgal	A	G	7: 126,927,470 (GRCm39)	T987A	possibly damaging	Het
Kat6b	A	G	14: 21,719,931 (GRCm39)	T1428A	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,959 (GRCm39)	D893G	probably benign	Het
Mst1r	A	T	9: 107,789,997 (GRCm39)		probably null	Het
Mtus2	G	T	5: 148,168,836 (GRCm39)		probably null	Het
Myo3b	A	G	2: 70,161,277 (GRCm39)	T1174A	probably benign	Het
Nsun5	G	A	5: 135,404,534 (GRCm39)	R424H	probably damaging	Het
Oacyl	A	G	18: 65,831,462 (GRCm39)	E33G	probably benign	Het
Or6c66	T	C	10: 129,461,838 (GRCm39)	I31V	probably benign	Het
Or7d10	T	C	9: 19,831,610 (GRCm39)	F35S	possibly damaging	Het
Palm	C	T	10: 79,629,539 (GRCm39)		probably benign	Het
Papln	A	G	12: 83,822,156 (GRCm39)	E337G	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Setd1b	A	G	5: 123,285,743 (GRCm39)	D263G	unknown	Het
Slc10a7	T	A	8: 79,423,843 (GRCm39)	F202I	probably benign	Het
Smpd3	T	C	8: 106,986,526 (GRCm39)	I455V	probably benign	Het
Snip1	G	T	4: 124,960,732 (GRCm39)	G63W	probably damaging	Het
Sorl1	T	A	9: 41,888,857 (GRCm39)	Y1981F	probably damaging	Het
Tagln2	A	G	1: 172,332,820 (GRCm39)	T36A	probably benign	Het
Tnxb	T	C	17: 34,929,194 (GRCm39)	S2746P	possibly damaging	Het
Tob2	G	A	15: 81,735,681 (GRCm39)	P96L	probably damaging	Het
Triobp	T	A	15: 78,885,744 (GRCm39)	Y1816N	probably damaging	Het
Trpc3	A	G	3: 36,698,318 (GRCm39)	I647T	probably benign	Het
Ttn	A	G	2: 76,721,905 (GRCm39)	S6600P	unknown	Het
Vmn1r200	A	T	13: 22,580,025 (GRCm39)	Y276F	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,159 (GRCm39)	I116T	probably benign	Het
Vmn1r26	A	T	6: 57,985,264 (GRCm39)	Y308*	probably null	Het
Vmn2r16	C	T	5: 109,488,015 (GRCm39)	T296I	probably damaging	Het
Vmn2r50	T	C	7: 9,772,016 (GRCm39)	T562A	probably benign	Het
Wdfy2	A	G	14: 63,189,380 (GRCm39)	D283G	possibly 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
R2280:Ecsit	UTSW	9	21,987,836 (GRCm39)	missense	possibly damaging	0.73
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
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'- GGGTAAACATTTATGCATACCCC -3'
(R):5'- CACATTGTAGGTAAGGCCCCAG -3'

Sequencing Primer
(F):5'- GCATACCCCTGTGTAATTCAGAG -3'
(R):5'- AGCCTATCCCAGTTTCTGCTG -3'

Posted On

2020-09-15