Incidental Mutation 'IGL03197:Ociad1'
ID 412860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ociad1
Ensembl Gene ENSMUSG00000029152
Gene Name OCIA domain containing 1
Synonyms Asrij, 6030432N09Rik, Imi2, expressed during mesenchymal induction 2, Emi2, TPA018, B230209J16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03197
Quality Score
Status
Chromosome 5
Chromosomal Location 73450127-73471412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73451675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 15 (S15P)
Ref Sequence ENSEMBL: ENSMUSP00000144227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031038] [ENSMUST00000071081] [ENSMUST00000166823] [ENSMUST00000200935] [ENSMUST00000201505] [ENSMUST00000201556] [ENSMUST00000202250] [ENSMUST00000202237] [ENSMUST00000201739]
AlphaFold Q9CRD0
Predicted Effect probably benign
Transcript: ENSMUST00000031038
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031038
Gene: ENSMUSG00000029152
AA Change: S15P

DomainStartEndE-ValueType
Pfam:OCIA 8 112 8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071081
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069412
Gene: ENSMUSG00000029152
AA Change: S15P

DomainStartEndE-ValueType
Pfam:OCIA 3 112 8.3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166823
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128805
Gene: ENSMUSG00000029152
AA Change: S15P

DomainStartEndE-ValueType
Pfam:OCIA 3 112 8.3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200935
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144515
Gene: ENSMUSG00000029152
AA Change: S15P

DomainStartEndE-ValueType
Pfam:OCIA 8 112 4.6e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201505
AA Change: S15P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000201556
AA Change: S15P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144227
Gene: ENSMUSG00000029152
AA Change: S15P

DomainStartEndE-ValueType
Pfam:OCIA 8 112 1.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202250
AA Change: S15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143799
Gene: ENSMUSG00000029152
AA Change: S15P

DomainStartEndE-ValueType
Pfam:OCIA 8 112 4.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202237
SMART Domains Protein: ENSMUSP00000144102
Gene: ENSMUSG00000029152

DomainStartEndE-ValueType
Pfam:OCIA 1 58 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201739
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,698,541 (GRCm39) W189R probably damaging Het
Abcb7 A T X: 103,327,797 (GRCm39) M704K possibly damaging Het
Anp32e A G 3: 95,844,364 (GRCm39) D71G probably damaging Het
Asphd1 T C 7: 126,545,298 (GRCm39) D353G probably damaging Het
Baz2b T C 2: 59,731,898 (GRCm39) K2047E possibly damaging Het
Cyp2c39 G T 19: 39,555,361 (GRCm39) V394F probably damaging Het
Ddx43 G A 9: 78,325,402 (GRCm39) M482I probably benign Het
Dnah2 A T 11: 69,350,089 (GRCm39) V2348E probably damaging Het
Fam135a A G 1: 24,083,263 (GRCm39) F304L probably damaging Het
Gabra3 A G X: 71,583,734 (GRCm39) I66T possibly damaging Het
Irf4 A T 13: 30,947,503 (GRCm39) probably benign Het
Kif11 A G 19: 37,395,475 (GRCm39) D578G probably benign Het
Lrig1 A G 6: 94,583,099 (GRCm39) S1006P probably benign Het
Mfsd14a A C 3: 116,430,012 (GRCm39) S307A probably benign Het
Mill1 A G 7: 17,998,590 (GRCm39) T267A probably benign Het
Nfyc C A 4: 120,630,958 (GRCm39) D62Y probably damaging Het
Nin T C 12: 70,073,584 (GRCm39) T1190A probably benign Het
Nup42 T C 5: 24,372,463 (GRCm39) S84P probably damaging Het
Or4c104 A T 2: 88,586,545 (GRCm39) I158K probably damaging Het
Or6c69c A T 10: 129,910,548 (GRCm39) I90F probably damaging Het
Or7g25 A G 9: 19,160,098 (GRCm39) I199T probably benign Het
Pcdhb11 T A 18: 37,555,477 (GRCm39) L269* probably null Het
Pigo A C 4: 43,022,103 (GRCm39) M352R possibly damaging Het
Plch1 T C 3: 63,660,591 (GRCm39) M343V probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Prkag1 A G 15: 98,713,058 (GRCm39) probably benign Het
Rasa4 A G 5: 136,130,866 (GRCm39) K379R probably damaging Het
Rraga G A 4: 86,494,513 (GRCm39) A120T probably damaging Het
Serpina3a C T 12: 104,082,500 (GRCm39) A91V probably damaging Het
Sik2 T C 9: 50,807,073 (GRCm39) E779G probably damaging Het
Slc15a3 T G 19: 10,832,443 (GRCm39) probably null Het
Smc1b C T 15: 84,955,064 (GRCm39) D1063N possibly damaging Het
Speer1e T G 5: 11,233,080 (GRCm39) N14K probably damaging Het
Speer1k T A 5: 11,000,501 (GRCm39) probably benign Het
Srsf12 G A 4: 33,231,040 (GRCm39) G183E probably damaging Het
Taf8 A G 17: 47,809,127 (GRCm39) S112P probably benign Het
Trhde A G 10: 114,249,213 (GRCm39) L851P probably benign Het
Wapl G T 14: 34,467,588 (GRCm39) V1182F possibly damaging Het
Zfp326 A G 5: 106,039,059 (GRCm39) I231V probably benign Het
Other mutations in Ociad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ociad1 APN 5 73,461,886 (GRCm39) splice site probably benign
IGL00801:Ociad1 APN 5 73,461,909 (GRCm39) missense probably damaging 1.00
IGL02402:Ociad1 APN 5 73,458,037 (GRCm39) missense possibly damaging 0.72
Bequerel UTSW 5 73,467,725 (GRCm39) missense probably benign 0.00
Curie UTSW 5 73,467,688 (GRCm39) nonsense probably null
R0420:Ociad1 UTSW 5 73,470,772 (GRCm39) splice site probably null
R0707:Ociad1 UTSW 5 73,452,255 (GRCm39) splice site probably benign
R1130:Ociad1 UTSW 5 73,451,675 (GRCm39) missense probably benign 0.00
R1744:Ociad1 UTSW 5 73,458,062 (GRCm39) critical splice donor site probably null
R2848:Ociad1 UTSW 5 73,451,694 (GRCm39) splice site probably null
R3157:Ociad1 UTSW 5 73,467,688 (GRCm39) nonsense probably null
R3159:Ociad1 UTSW 5 73,467,688 (GRCm39) nonsense probably null
R4686:Ociad1 UTSW 5 73,464,078 (GRCm39) missense possibly damaging 0.77
R5002:Ociad1 UTSW 5 73,467,659 (GRCm39) missense possibly damaging 0.82
R5398:Ociad1 UTSW 5 73,467,755 (GRCm39) missense probably benign 0.00
R5483:Ociad1 UTSW 5 73,452,314 (GRCm39) missense probably damaging 1.00
R5921:Ociad1 UTSW 5 73,467,725 (GRCm39) missense probably benign 0.00
R7220:Ociad1 UTSW 5 73,470,809 (GRCm39) missense probably benign 0.00
R7511:Ociad1 UTSW 5 73,452,338 (GRCm39) missense probably damaging 1.00
R7796:Ociad1 UTSW 5 73,452,290 (GRCm39) missense probably damaging 0.99
R9053:Ociad1 UTSW 5 73,460,951 (GRCm39) missense probably damaging 1.00
R9180:Ociad1 UTSW 5 73,467,725 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02