Incidental Mutation 'IGL00164:Ecsit'
ID1339
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 #IGL00164
Quality Score
Status
Chromosome9
Chromosomal Location22072246-22085438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 22073014 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 340 (G340D)
Ref Sequence ENSEMBL: ENSMUSP00000136247 (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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000098937
AA Change: G340D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: G340D

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
AA Change: G340D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: G340D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000180180
AA Change: G340D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: G340D

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 probably benign
Transcript: ENSMUST00000213738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216916
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,323,358 probably benign Het
Abcg4 A G 9: 44,275,142 probably benign Het
Actr2 A G 11: 20,080,015 probably benign Het
Adgrb3 A G 1: 25,228,500 L843P probably benign Het
Cdk19 G A 10: 40,436,165 D137N probably benign Het
Cuedc2 T A 19: 46,331,920 I71F probably damaging Het
Dag1 A G 9: 108,209,288 V218A probably damaging Het
Dlg5 A C 14: 24,158,464 S868R possibly damaging Het
Fkbp8 A G 8: 70,534,561 M358V probably damaging Het
Gckr G A 5: 31,299,576 V79M probably damaging Het
Gpd1 C A 15: 99,720,651 D172E probably benign Het
Josd2 T C 7: 44,471,316 probably benign Het
Kcna2 T C 3: 107,104,630 S176P probably damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Notch1 G A 2: 26,460,046 R2361W probably damaging Het
Olfr1134 T C 2: 87,656,238 M228V probably benign Het
Palb2 A C 7: 122,121,048 probably benign Het
Pan2 C T 10: 128,312,926 Q452* probably null Het
Pcnx T C 12: 81,895,101 V91A probably damaging Het
Rgs22 T A 15: 36,099,931 I213F possibly damaging Het
Serpina3b G T 12: 104,138,787 W407C probably benign Het
Sf3b2 T C 19: 5,279,587 D687G probably benign Het
Slc8a3 T C 12: 81,314,569 E492G probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Surf1 C T 2: 26,913,572 probably null Het
Tmem190 T C 7: 4,782,999 probably benign Het
Zfhx2 A G 14: 55,065,026 S1834P possibly damaging Het
Zfp607a G A 7: 27,877,789 E95K possibly damaging Het
Other mutations in Ecsit
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
X0024:Ecsit UTSW 9 22074815 critical splice acceptor site probably null
X0025:Ecsit UTSW 9 22072404 missense probably benign
Posted On2011-07-12