Incidental Mutation 'IGL01912:Esyt2'
ID 179835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esyt2
Ensembl Gene ENSMUSG00000021171
Gene Name extended synaptotagmin-like protein 2
Synonyms 4921504I16Rik, D12Ertd551e, 2410017M09Rik, Fam62b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01912
Quality Score
Status
Chromosome 12
Chromosomal Location 116281196-116391050 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116339609 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 289 (I289T)
Ref Sequence ENSEMBL: ENSMUSP00000152786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100986] [ENSMUST00000220720] [ENSMUST00000220816]
AlphaFold Q3TZZ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000100986
AA Change: I289T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098548
Gene: ENSMUSG00000021171
AA Change: I289T

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Pfam:SMP_LBD 115 294 3e-125 PFAM
C2 310 412 1.39e-14 SMART
C2 461 556 2.59e-14 SMART
low complexity region 660 669 N/A INTRINSIC
C2 726 831 5.51e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220720
AA Change: I289T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220754
Predicted Effect unknown
Transcript: ENSMUST00000220804
AA Change: I51T
Predicted Effect possibly damaging
Transcript: ENSMUST00000220816
AA Change: I289T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221584
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice are viable and fertile without overt morphological defects except reduced FGF-stimulated mouse embryonic fibroblast migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 46,120,510 D860E probably damaging Het
Actl11 C A 9: 107,929,645 P389Q probably damaging Het
Bsg G T 10: 79,710,140 G103W probably null Het
Camk2d T A 3: 126,810,632 probably null Het
Clcn7 T C 17: 25,153,009 probably benign Het
Dctd C T 8: 48,111,662 probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Exoc6b A C 6: 84,625,174 C753G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3633 T C 14: 42,640,786 probably benign Het
Hrh3 A T 2: 180,101,376 V153D probably damaging Het
Krt77 T A 15: 101,863,851 probably benign Het
Nat3 T A 8: 67,547,746 C92* probably null Het
Nckap1l T A 15: 103,474,146 L525M probably benign Het
Nrp2 T A 1: 62,771,737 C646S probably damaging Het
Olfr512 T C 7: 108,714,258 Y290H possibly damaging Het
Olfr659 T C 7: 104,671,233 I177T possibly damaging Het
Olfr698 T A 7: 106,752,992 Y132F probably damaging Het
Orc1 T C 4: 108,590,744 Y63H probably damaging Het
Otud4 T C 8: 79,673,837 V1059A probably benign Het
Ptprm A G 17: 67,046,118 V235A probably benign Het
Rab3ip G T 10: 116,907,092 Q443K probably benign Het
Tnc C A 4: 64,008,740 D850Y probably damaging Het
Ubxn2b T A 4: 6,203,767 probably null Het
Vmn1r233 T A 17: 20,994,205 Y161F probably benign Het
Vmn1r54 T C 6: 90,269,460 S119P probably damaging Het
Other mutations in Esyt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Esyt2 APN 12 116363444 missense probably damaging 1.00
IGL01636:Esyt2 APN 12 116365930 critical splice donor site probably null
IGL02310:Esyt2 APN 12 116365921 missense probably benign 0.06
PIT4802001:Esyt2 UTSW 12 116365837 missense probably benign 0.00
R0134:Esyt2 UTSW 12 116367710 missense probably damaging 0.98
R0225:Esyt2 UTSW 12 116367710 missense probably damaging 0.98
R0313:Esyt2 UTSW 12 116347808 missense probably damaging 1.00
R0532:Esyt2 UTSW 12 116357198 splice site probably benign
R2324:Esyt2 UTSW 12 116367821 missense possibly damaging 0.50
R4610:Esyt2 UTSW 12 116318890 missense probably damaging 0.99
R4898:Esyt2 UTSW 12 116342088 missense probably benign 0.06
R4918:Esyt2 UTSW 12 116324140 missense probably benign 0.30
R5052:Esyt2 UTSW 12 116367796 missense probably damaging 1.00
R5222:Esyt2 UTSW 12 116318826 missense probably damaging 1.00
R5800:Esyt2 UTSW 12 116370188 missense possibly damaging 0.94
R6499:Esyt2 UTSW 12 116321170 missense probably damaging 0.98
R6607:Esyt2 UTSW 12 116368740 missense probably benign 0.18
R6951:Esyt2 UTSW 12 116324130 missense probably benign 0.21
R7153:Esyt2 UTSW 12 116346508 missense probably benign 0.00
R7173:Esyt2 UTSW 12 116363534 missense probably benign 0.05
R7227:Esyt2 UTSW 12 116342125 missense probably damaging 1.00
R7248:Esyt2 UTSW 12 116342238 missense probably damaging 1.00
R7509:Esyt2 UTSW 12 116365876 missense probably damaging 1.00
R7780:Esyt2 UTSW 12 116342098 missense probably benign 0.15
R8077:Esyt2 UTSW 12 116342228 missense possibly damaging 0.54
R8136:Esyt2 UTSW 12 116363459 missense probably benign
R8264:Esyt2 UTSW 12 116365920 missense probably benign 0.00
R8350:Esyt2 UTSW 12 116363482 missense probably damaging 0.99
R8450:Esyt2 UTSW 12 116363482 missense probably damaging 0.99
R9330:Esyt2 UTSW 12 116342145 missense probably benign
Posted On 2014-05-07