Incidental Mutation 'IGL02469:Syne3'
ID294675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syne3
Ensembl Gene ENSMUSG00000054150
Gene Namespectrin repeat containing, nuclear envelope family member 3
Synonyms4831426I19Rik, nesprin-3, nesprin-3alpha, nesprin-3beta
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02469
Quality Score
Status
Chromosome12
Chromosomal Location104929933-105009809 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104954306 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 544 (S544G)
Ref Sequence ENSEMBL: ENSMUSP00000093090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067005] [ENSMUST00000095439] [ENSMUST00000109927]
Predicted Effect probably benign
Transcript: ENSMUST00000067005
AA Change: S457G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: S457G

DomainStartEndE-ValueType
Blast:SPEC 29 127 8e-24 BLAST
SPEC 136 237 1.01e-1 SMART
Blast:SPEC 252 446 9e-55 BLAST
low complexity region 447 459 N/A INTRINSIC
low complexity region 495 514 N/A INTRINSIC
SPEC 563 664 1.74e-1 SMART
Blast:SPEC 722 818 1e-12 BLAST
KASH 832 888 7.52e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095439
AA Change: S544G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: S544G

DomainStartEndE-ValueType
SPEC 7 109 1.22e-1 SMART
SPEC 223 324 1.01e-1 SMART
Blast:SPEC 339 533 2e-54 BLAST
low complexity region 534 546 N/A INTRINSIC
low complexity region 582 601 N/A INTRINSIC
SPEC 650 751 1.74e-1 SMART
Blast:SPEC 809 905 1e-12 BLAST
KASH 919 975 7.52e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109927
AA Change: S457G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: S457G

DomainStartEndE-ValueType
Blast:SPEC 29 127 8e-24 BLAST
SPEC 136 237 1.01e-1 SMART
Blast:SPEC 252 446 9e-55 BLAST
low complexity region 447 459 N/A INTRINSIC
low complexity region 495 514 N/A INTRINSIC
SPEC 563 664 1.74e-1 SMART
Blast:SPEC 722 818 1e-12 BLAST
KASH 832 888 7.52e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,668,115 Q975L probably damaging Het
Acad10 T C 5: 121,645,459 Y301C probably damaging Het
Akr7a5 T A 4: 139,314,181 S134T probably damaging Het
Aldh4a1 C T 4: 139,648,161 T527I probably damaging Het
Atf2 A G 2: 73,846,332 V146A probably damaging Het
C2cd6 A T 1: 58,997,481 probably benign Het
Caml T C 13: 55,628,577 S210P probably damaging Het
Casp1 A C 9: 5,303,105 R186S probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr1 T A 14: 37,085,600 Q361L possibly damaging Het
Chrna3 T A 9: 55,016,006 T173S probably benign Het
Commd6 A G 14: 101,637,027 V47A probably damaging Het
Dmrtc2 T C 7: 24,872,713 probably benign Het
Dock3 T C 9: 106,986,016 D721G probably damaging Het
Dpp10 T C 1: 123,411,803 S332G probably benign Het
Dst A G 1: 34,188,828 E1834G probably damaging Het
Espl1 T A 15: 102,314,025 L1034Q probably damaging Het
Gtf2ird2 C T 5: 134,191,249 T22M probably damaging Het
Hyal2 T C 9: 107,572,212 L389P probably damaging Het
Lipa T C 19: 34,494,035 D380G probably damaging Het
March5 T G 19: 37,217,275 W111G probably damaging Het
Olfr1097 T C 2: 86,891,155 T7A possibly damaging Het
Pfkfb2 A T 1: 130,700,037 I391N probably damaging Het
Sec31a T C 5: 100,385,255 S544G probably benign Het
Slc26a9 A G 1: 131,762,936 K530E probably damaging Het
Spaca3 G A 11: 80,864,085 probably null Het
Tctn3 T C 19: 40,597,523 E526G probably benign Het
Tll1 A T 8: 64,070,280 I466K probably benign Het
Ttbk1 A G 17: 46,470,630 V399A possibly damaging Het
Vmn1r47 T C 6: 90,022,453 L189P probably damaging Het
Vmn2r100 T A 17: 19,531,285 L530* probably null Het
Yipf3 T C 17: 46,250,458 probably null Het
Other mutations in Syne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Syne3 APN 12 104958069 missense probably benign 0.00
IGL01986:Syne3 APN 12 104968000 missense probably damaging 1.00
IGL02303:Syne3 APN 12 104963294 missense probably damaging 1.00
IGL03127:Syne3 APN 12 104943428 missense probably benign 0.02
BB008:Syne3 UTSW 12 104963232 missense probably damaging 0.97
BB018:Syne3 UTSW 12 104963232 missense probably damaging 0.97
PIT4791001:Syne3 UTSW 12 104963179 missense probably benign
R0436:Syne3 UTSW 12 104946924 missense possibly damaging 0.95
R0471:Syne3 UTSW 12 104943426 missense probably benign 0.00
R0613:Syne3 UTSW 12 104958112 missense probably benign
R0662:Syne3 UTSW 12 104961510 missense probably benign 0.44
R0707:Syne3 UTSW 12 104969360 missense probably damaging 0.98
R1321:Syne3 UTSW 12 104975796 missense probably benign 0.14
R1494:Syne3 UTSW 12 104955582 missense possibly damaging 0.87
R2035:Syne3 UTSW 12 104958127 missense probably benign 0.00
R2147:Syne3 UTSW 12 104953098 missense probably damaging 1.00
R2326:Syne3 UTSW 12 104969234 missense probably damaging 1.00
R2923:Syne3 UTSW 12 104968084 missense probably damaging 1.00
R3710:Syne3 UTSW 12 104943438 missense possibly damaging 0.86
R3946:Syne3 UTSW 12 104958066 missense probably damaging 1.00
R4542:Syne3 UTSW 12 104969244 missense probably benign 0.00
R4544:Syne3 UTSW 12 104959469 missense probably damaging 1.00
R5110:Syne3 UTSW 12 104943370 missense probably benign 0.10
R5256:Syne3 UTSW 12 104975880 start codon destroyed probably null 1.00
R5490:Syne3 UTSW 12 104955672 missense probably damaging 1.00
R5616:Syne3 UTSW 12 104955678 missense probably damaging 1.00
R5730:Syne3 UTSW 12 104961454 missense probably benign 0.02
R5941:Syne3 UTSW 12 104946992 missense probably benign
R6208:Syne3 UTSW 12 104943363 missense probably benign 0.12
R6456:Syne3 UTSW 12 104940704 missense possibly damaging 0.87
R6566:Syne3 UTSW 12 104946707 missense probably benign 0.00
R6957:Syne3 UTSW 12 104954302 missense probably damaging 1.00
R7251:Syne3 UTSW 12 104961571 frame shift probably null
R7388:Syne3 UTSW 12 104967908 missense probably damaging 1.00
R7591:Syne3 UTSW 12 104940604 critical splice donor site probably null
R7614:Syne3 UTSW 12 104946642 missense not run
R7740:Syne3 UTSW 12 104954287 missense probably benign 0.01
R7763:Syne3 UTSW 12 104997495 start gained probably benign
R7931:Syne3 UTSW 12 104963232 missense probably damaging 0.97
Posted On2015-04-16