Incidental Mutation 'IGL02114:Ecsit'
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ID280308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecsit
Ensembl Gene ENSMUSG00000066839
Gene NameECSIT signalling integrator
SynonymsSitpec
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02114
Quality Score
Status
Chromosome9
Chromosomal Location22072246-22085438 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 22078144 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098937] [ENSMUST00000177967] [ENSMUST00000179422] [ENSMUST00000180180]
Predicted Effect probably benign
Transcript: ENSMUST00000098937
SMART Domains Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:ECSIT 1 197 4.4e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179422
SMART Domains Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839

DomainStartEndE-ValueType
Pfam:ECSIT 39 267 5e-106 PFAM
ECIST_Cterm 269 394 2.19e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180180
SMART Domains Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839

DomainStartEndE-ValueType
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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Ecsit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Ecsit APN 9 22073014 missense probably benign 0.00
IGL02457:Ecsit APN 9 22078204 missense probably damaging 0.98
IGL03365:Ecsit APN 9 22076526 missense probably damaging 0.99
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
R6474:Ecsit UTSW 9 22074685 missense possibly damaging 0.91
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
Posted On2015-04-16