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
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03365
Quality Score
Status
Chromosome 9
Chromosomal Location 21983542-21996734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 21987822 bp (GRCm39)
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: 25,202,809 (GRCm39) probably benign Het
Adam6a T A 12: 113,507,765 (GRCm39) I46N possibly damaging Het
Adipor1 A G 1: 134,359,380 (GRCm39) D371G possibly damaging Het
Akr1c21 C T 13: 4,633,851 (GRCm39) P307S probably benign Het
Aoc1l3 A G 6: 48,965,531 (GRCm39) D513G probably damaging Het
Asxl1 T A 2: 153,243,674 (GRCm39) I1408N probably damaging Het
Avil T C 10: 126,846,852 (GRCm39) V472A probably damaging Het
Bpifa6 C A 2: 153,831,204 (GRCm39) Q257K possibly damaging Het
Cacna2d4 G T 6: 119,248,225 (GRCm39) V380L probably benign Het
Clip1 A C 5: 123,721,649 (GRCm39) S1111A probably damaging Het
Dennd4c A G 4: 86,725,663 (GRCm39) probably null Het
Dock8 C T 19: 25,077,048 (GRCm39) P506L possibly damaging Het
Eif1b T A 9: 120,323,186 (GRCm39) D15E probably benign Het
Enpp1 A G 10: 24,544,923 (GRCm39) Y319H probably damaging Het
Fat3 T C 9: 15,907,765 (GRCm39) N2746D probably damaging Het
Fgf20 G T 8: 40,732,932 (GRCm39) L115I possibly damaging Het
Hip1r C T 5: 124,138,230 (GRCm39) R775W probably damaging Het
Hycc1 A T 5: 24,188,158 (GRCm39) Y245N probably benign Het
Lrp12 A T 15: 39,735,917 (GRCm39) S672T probably benign Het
Morf4l2 A G X: 135,634,464 (GRCm39) Y255H probably benign Het
Mri1 A G 8: 84,978,262 (GRCm39) V343A possibly damaging Het
Mybphl T A 3: 108,272,314 (GRCm39) M1K probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Ofd1 C A X: 165,175,512 (GRCm39) V951F probably damaging Het
Or4k51 G T 2: 111,584,772 (GRCm39) M59I possibly damaging Het
Or51r1 G T 7: 102,227,836 (GRCm39) V45F probably benign Het
Or6c208 T A 10: 129,224,108 (GRCm39) V202D possibly damaging Het
Parp12 G A 6: 39,079,581 (GRCm39) R310W probably damaging Het
Pcdh11x T A X: 119,425,935 (GRCm39) D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 (GRCm39) probably benign Het
Ptprz1 T A 6: 23,030,581 (GRCm39) probably benign Het
Qser1 T A 2: 104,617,344 (GRCm39) N1156I probably damaging Het
Rgs3 T A 4: 62,607,912 (GRCm39) D59E probably benign Het
Rims2 T C 15: 39,339,937 (GRCm39) F917S probably damaging Het
Sap30bp G A 11: 115,855,078 (GRCm39) V263M possibly damaging Het
Scart2 T A 7: 139,876,682 (GRCm39) V691E probably damaging Het
Scfd2 G T 5: 74,691,596 (GRCm39) H229N possibly damaging Het
Sspo T C 6: 48,436,349 (GRCm39) V1233A possibly damaging Het
Stam T A 2: 14,151,201 (GRCm39) Y519* probably null Het
Synj2 A G 17: 6,069,679 (GRCm39) T602A probably damaging Het
Tas2r126 C T 6: 42,412,391 (GRCm39) A308V probably benign Het
Tm4sf20 T C 1: 82,745,948 (GRCm39) probably benign Het
Ttc23 G A 7: 67,312,085 (GRCm39) probably benign Het
Vmn1r90 T C 7: 14,295,229 (GRCm39) I290V probably damaging Het
Xirp1 A C 9: 119,847,605 (GRCm39) L426W probably damaging Het
Zgrf1 T G 3: 127,392,423 (GRCm39) F430L possibly damaging Het
Other mutations in Ecsit
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7987: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
Posted On 2016-08-02