Incidental Mutation 'IGL03365:Ecsit'
ID 420065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecsit
Ensembl Gene ENSMUSG00000066839
Gene Name ECSIT signalling integrator
Synonyms Sitpec
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03365
Quality Score
Status
Chromosome 9
Chromosomal Location 22072246-22085438 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 22076526 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 72 (H72Q)
Ref Sequence ENSEMBL: ENSMUSP00000136247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098937] [ENSMUST00000177967] [ENSMUST00000179422] [ENSMUST00000180180]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098937
AA Change: H72Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096537
Gene: ENSMUSG00000066839
AA Change: H72Q

DomainStartEndE-ValueType
Pfam:ECSIT 39 267 5e-106 PFAM
ECIST_Cterm 269 394 2.19e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177967
AA Change: H2Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135936
Gene: ENSMUSG00000066839
AA Change: H2Q

DomainStartEndE-ValueType
Pfam:ECSIT 1 197 4.4e-101 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179422
AA Change: H72Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137424
Gene: ENSMUSG00000066839
AA Change: H72Q

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: H72Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136247
Gene: ENSMUSG00000066839
AA Change: H72Q

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 24,997,811 probably benign Het
5830411N06Rik T A 7: 140,296,769 V691E probably damaging Het
Adam6a T A 12: 113,544,145 I46N possibly damaging Het
Adipor1 A G 1: 134,431,642 D371G possibly damaging Het
Akr1c21 C T 13: 4,583,852 P307S probably benign Het
Asxl1 T A 2: 153,401,754 I1408N probably damaging Het
Avil T C 10: 127,010,983 V472A probably damaging Het
Bpifa6 C A 2: 153,989,284 Q257K possibly damaging Het
Cacna2d4 G T 6: 119,271,264 V380L probably benign Het
Clip1 A C 5: 123,583,586 S1111A probably damaging Het
Dennd4c A G 4: 86,807,426 probably null Het
Dock8 C T 19: 25,099,684 P506L possibly damaging Het
Eif1b T A 9: 120,494,120 D15E probably benign Het
Enpp1 A G 10: 24,669,025 Y319H probably damaging Het
Fam126a A T 5: 23,983,160 Y245N probably benign Het
Fat3 T C 9: 15,996,469 N2746D probably damaging Het
Fgf20 G T 8: 40,279,891 L115I possibly damaging Het
Hip1r C T 5: 124,000,167 R775W probably damaging Het
Lrp12 A T 15: 39,872,521 S672T probably benign Het
Morf4l2 A G X: 136,733,715 Y255H probably benign Het
Mri1 A G 8: 84,251,633 V343A possibly damaging Het
Mybphl T A 3: 108,364,998 M1K probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Ofd1 C A X: 166,392,516 V951F probably damaging Het
Olfr1301 G T 2: 111,754,427 M59I possibly damaging Het
Olfr550 G T 7: 102,578,629 V45F probably benign Het
Olfr784 T A 10: 129,388,239 V202D possibly damaging Het
Parp12 G A 6: 39,102,647 R310W probably damaging Het
Pcdh11x T A X: 120,516,238 D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 probably benign Het
Ptprz1 T A 6: 23,030,582 probably benign Het
Qser1 T A 2: 104,786,999 N1156I probably damaging Het
Rgs3 T A 4: 62,689,675 D59E probably benign Het
Rims2 T C 15: 39,476,541 F917S probably damaging Het
Sap30bp G A 11: 115,964,252 V263M possibly damaging Het
Scfd2 G T 5: 74,530,935 H229N possibly damaging Het
Sspo T C 6: 48,459,415 V1233A possibly damaging Het
Stam T A 2: 14,146,390 Y519* probably null Het
Svs1 A G 6: 48,988,597 D513G probably damaging Het
Synj2 A G 17: 6,019,404 T602A probably damaging Het
Tas2r126 C T 6: 42,435,457 A308V probably benign Het
Tm4sf20 T C 1: 82,768,227 probably benign Het
Ttc23 G A 7: 67,662,337 probably benign Het
Vmn1r90 T C 7: 14,561,304 I290V probably damaging Het
Xirp1 A C 9: 120,018,539 L426W probably damaging Het
Zgrf1 T G 3: 127,598,774 F430L 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
IGL02457:Ecsit APN 9 22078204 missense probably damaging 0.98
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 On 2016-08-02