Incidental Mutation 'IGL02457:Ecsit'
ID294422
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 #IGL02457
Quality Score
Status
Chromosome9
Chromosomal Location22072246-22085438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22078204 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 14 (S14P)
Ref Sequence ENSEMBL: ENSMUSP00000136247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098937] [ENSMUST00000177967] [ENSMUST00000179422] [ENSMUST00000180180]
Predicted Effect probably damaging
Transcript: ENSMUST00000098937
AA Change: S14P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: S14P

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 damaging
Transcript: ENSMUST00000179422
AA Change: S14P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: S14P

DomainStartEndE-ValueType
Pfam:ECSIT 39 267 5e-106 PFAM
ECIST_Cterm 269 394 2.19e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180180
AA Change: S14P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: S14P

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,494,334 D343G probably benign Het
Acot10 T C 15: 20,666,143 S171G possibly damaging Het
Actr3b T C 5: 25,849,162 probably null Het
Adamts17 T C 7: 67,027,814 M492T probably damaging Het
Akap4 A C X: 7,077,468 N670T probably benign Het
Atrip A G 9: 109,065,231 S55P possibly damaging Het
Bend3 A T 10: 43,509,950 E113V probably damaging Het
Ccdc158 A C 5: 92,650,048 I411S probably damaging Het
Cd163l1 G A 7: 140,220,395 G30S probably benign Het
Cfap97 G T 8: 46,170,278 C235F possibly damaging Het
Chil4 T C 3: 106,214,399 N45D probably benign Het
D430041D05Rik A G 2: 104,249,345 V1131A probably damaging Het
Defb38 T C 8: 19,026,536 probably benign Het
Dnah10 T A 5: 124,789,796 W2260R probably damaging Het
Eif3l T C 15: 79,078,096 F106L probably benign Het
Erich5 G T 15: 34,470,853 G76V probably damaging Het
Evpl A G 11: 116,230,113 L432P possibly damaging Het
Fbxw10 T C 11: 62,874,982 F698L probably damaging Het
Frem2 A T 3: 53,521,049 S2866T probably damaging Het
Fuca1 G A 4: 135,934,762 V334I probably benign Het
Hprt T A X: 53,002,133 H60Q probably benign Het
Kirrel2 T C 7: 30,452,740 N481S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lilr4b T A 10: 51,481,238 Y57N probably benign Het
Lix1l A G 3: 96,614,476 Y126C probably damaging Het
Lox T C 18: 52,521,316 D347G probably damaging Het
Mak16 C T 8: 31,164,725 R147Q possibly damaging Het
Ndst2 G A 14: 20,729,554 A206V possibly damaging Het
Olfr356 A T 2: 36,937,748 I210F probably damaging Het
Olfr450 T A 6: 42,818,242 I257N probably damaging Het
Phldb1 T C 9: 44,716,474 M225V probably benign Het
Pofut1 C T 2: 153,248,596 Q137* probably null Het
Polr2a T C 11: 69,743,250 probably benign Het
Prdm5 T A 6: 65,881,116 L388Q probably damaging Het
Rad51c A G 11: 87,380,855 S344P possibly damaging Het
Sdk1 C T 5: 141,953,016 P398L probably damaging Het
Sec63 G A 10: 42,801,733 probably benign Het
Sgo1 A T 17: 53,676,961 L463Q probably damaging Het
Slc5a6 A G 5: 31,040,658 L291P probably damaging Het
Smarcb1 T C 10: 75,921,371 T9A probably benign Het
Sp3 A G 2: 72,971,469 W67R probably damaging Het
Ssxb9 A C X: 21,174,995 S23A probably benign Het
Syne1 A G 10: 5,342,167 L1367S probably damaging Het
Tbc1d23 T A 16: 57,170,391 I690F probably damaging Het
Tdgf1 C T 9: 110,942,623 C32Y probably damaging Het
Tmed5 A T 5: 108,124,550 S227R probably benign Het
Tnrc6c T A 11: 117,722,977 S814T probably benign Het
Trbv2 C T 6: 41,047,971 T107I probably benign Het
Trpm6 T C 19: 18,825,791 V866A probably damaging Het
Trpm6 A T 19: 18,827,398 K905* probably null Het
Ttn A G 2: 76,709,310 V34444A probably benign Het
Vmn1r86 C T 7: 13,102,780 M56I probably benign Het
Vmn2r17 A C 5: 109,453,146 D770A probably damaging Het
Wnk4 T C 11: 101,269,563 probably benign Het
Xaf1 T C 11: 72,303,431 M46T possibly damaging Het
Other mutations in Ecsit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Ecsit APN 9 22073014 missense probably benign 0.00
IGL02114:Ecsit APN 9 22078144 splice site probably benign
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
R6474:Ecsit UTSW 9 22074685 missense possibly damaging 0.91
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
Posted On2015-04-16