Incidental Mutation 'IGL01986:Syne3'
ID 181929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syne3
Ensembl Gene ENSMUSG00000054150
Gene Name spectrin repeat containing, nuclear envelope family member 3
Synonyms 4831426I19Rik, nesprin-3beta, nesprin-3alpha, nesprin-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01986
Quality Score
Status
Chromosome 12
Chromosomal Location 104896192-104976068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104934259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 83 (L83Q)
Ref Sequence ENSEMBL: ENSMUSP00000105553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067005] [ENSMUST00000095439] [ENSMUST00000109927]
AlphaFold Q4FZC9
Predicted Effect probably damaging
Transcript: ENSMUST00000067005
AA Change: L83Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: L83Q

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 damaging
Transcript: ENSMUST00000095439
AA Change: L170Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: L170Q

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 damaging
Transcript: ENSMUST00000109927
AA Change: L83Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: L83Q

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,282,956 (GRCm39) I245F possibly damaging Het
Abca3 G A 17: 24,627,088 (GRCm39) G1263D probably damaging Het
Arap2 A T 5: 62,779,265 (GRCm39) S1442T probably damaging Het
Arl15 C A 13: 114,058,902 (GRCm39) S56R possibly damaging Het
Ccdc38 A T 10: 93,415,705 (GRCm39) N415Y probably damaging Het
Ccny G A 18: 9,377,817 (GRCm39) R81C probably damaging Het
Cracd T A 5: 77,006,457 (GRCm39) S939R unknown Het
Csmd3 T C 15: 47,522,591 (GRCm39) T2693A possibly damaging Het
Fancm C T 12: 65,173,429 (GRCm39) Q1914* probably null Het
Fcsk T C 8: 111,609,889 (GRCm39) T1042A probably benign Het
Gm18856 G A 13: 14,139,413 (GRCm39) probably benign Het
Gramd1a A T 7: 30,833,434 (GRCm39) L610Q possibly damaging Het
Hsd17b4 C A 18: 50,293,193 (GRCm39) probably benign Het
Hspa12a A G 19: 58,787,834 (GRCm39) S663P probably benign Het
Insr C T 8: 3,208,817 (GRCm39) V1215I probably damaging Het
Kdr A G 5: 76,113,519 (GRCm39) V783A probably benign Het
Klhl9 T C 4: 88,640,016 (GRCm39) D75G probably damaging Het
Lmntd1 A G 6: 145,365,533 (GRCm39) S53P probably damaging Het
Lrrc41 T A 4: 115,946,519 (GRCm39) F411L probably benign Het
Lyst G A 13: 13,950,212 (GRCm39) probably null Het
Mmp17 A G 5: 129,673,692 (GRCm39) H257R probably damaging Het
Nkiras1 G A 14: 18,280,071 (GRCm38) R154Q probably damaging Het
Or10ag2 A G 2: 87,248,880 (GRCm39) I163V probably benign Het
Or2b4 A G 17: 38,116,957 (GRCm39) K307R probably damaging Het
Or4p21 C T 2: 88,276,839 (GRCm39) V148I probably benign Het
Or8s16 T C 15: 98,210,660 (GRCm39) Y257C probably damaging Het
Pcsk6 G A 7: 65,577,625 (GRCm39) R60H probably damaging Het
Polk T C 13: 96,620,331 (GRCm39) D623G probably benign Het
Rlf A T 4: 121,005,303 (GRCm39) C1226S probably damaging Het
Rpa2 C T 4: 132,499,191 (GRCm39) P87S probably benign Het
Rpa2 C T 4: 132,499,192 (GRCm39) P87L probably benign Het
Sema5a T C 15: 32,682,506 (GRCm39) probably benign Het
Sis A T 3: 72,852,545 (GRCm39) M529K probably damaging Het
Sspo T C 6: 48,460,237 (GRCm39) M3375T probably benign Het
Tec A T 5: 72,939,348 (GRCm39) Y222* probably null Het
Tfap2d C T 1: 19,189,383 (GRCm39) probably benign Het
Trak1 G A 9: 121,302,033 (GRCm39) A930T probably benign Het
Ugt2b34 G T 5: 87,049,111 (GRCm39) H305N probably benign Het
Vmn2r95 A G 17: 18,660,473 (GRCm39) N295S probably benign Het
Other mutations in Syne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Syne3 APN 12 104,924,328 (GRCm39) missense probably benign 0.00
IGL02303:Syne3 APN 12 104,929,553 (GRCm39) missense probably damaging 1.00
IGL02469:Syne3 APN 12 104,920,565 (GRCm39) missense probably benign 0.08
IGL03127:Syne3 APN 12 104,909,687 (GRCm39) missense probably benign 0.02
BB008:Syne3 UTSW 12 104,929,491 (GRCm39) missense probably damaging 0.97
BB018:Syne3 UTSW 12 104,929,491 (GRCm39) missense probably damaging 0.97
PIT4791001:Syne3 UTSW 12 104,929,438 (GRCm39) missense probably benign
R0436:Syne3 UTSW 12 104,913,183 (GRCm39) missense possibly damaging 0.95
R0471:Syne3 UTSW 12 104,909,685 (GRCm39) missense probably benign 0.00
R0613:Syne3 UTSW 12 104,924,371 (GRCm39) missense probably benign
R0662:Syne3 UTSW 12 104,927,769 (GRCm39) missense probably benign 0.44
R0707:Syne3 UTSW 12 104,935,619 (GRCm39) missense probably damaging 0.98
R1321:Syne3 UTSW 12 104,942,055 (GRCm39) missense probably benign 0.14
R1494:Syne3 UTSW 12 104,921,841 (GRCm39) missense possibly damaging 0.87
R2035:Syne3 UTSW 12 104,924,386 (GRCm39) missense probably benign 0.00
R2147:Syne3 UTSW 12 104,919,357 (GRCm39) missense probably damaging 1.00
R2326:Syne3 UTSW 12 104,935,493 (GRCm39) missense probably damaging 1.00
R2923:Syne3 UTSW 12 104,934,343 (GRCm39) missense probably damaging 1.00
R3710:Syne3 UTSW 12 104,909,697 (GRCm39) missense possibly damaging 0.86
R3946:Syne3 UTSW 12 104,924,325 (GRCm39) missense probably damaging 1.00
R4542:Syne3 UTSW 12 104,935,503 (GRCm39) missense probably benign 0.00
R4544:Syne3 UTSW 12 104,925,728 (GRCm39) missense probably damaging 1.00
R5110:Syne3 UTSW 12 104,909,629 (GRCm39) missense probably benign 0.10
R5256:Syne3 UTSW 12 104,942,139 (GRCm39) start codon destroyed probably null 1.00
R5490:Syne3 UTSW 12 104,921,931 (GRCm39) missense probably damaging 1.00
R5616:Syne3 UTSW 12 104,921,937 (GRCm39) missense probably damaging 1.00
R5730:Syne3 UTSW 12 104,927,713 (GRCm39) missense probably benign 0.02
R5941:Syne3 UTSW 12 104,913,251 (GRCm39) missense probably benign
R6208:Syne3 UTSW 12 104,909,622 (GRCm39) missense probably benign 0.12
R6456:Syne3 UTSW 12 104,906,963 (GRCm39) missense possibly damaging 0.87
R6566:Syne3 UTSW 12 104,912,966 (GRCm39) missense probably benign 0.00
R6957:Syne3 UTSW 12 104,920,561 (GRCm39) missense probably damaging 1.00
R7251:Syne3 UTSW 12 104,927,830 (GRCm39) frame shift probably null
R7388:Syne3 UTSW 12 104,934,167 (GRCm39) missense probably damaging 1.00
R7591:Syne3 UTSW 12 104,906,863 (GRCm39) critical splice donor site probably null
R7614:Syne3 UTSW 12 104,912,901 (GRCm39) missense not run
R7740:Syne3 UTSW 12 104,920,546 (GRCm39) missense probably benign 0.01
R7763:Syne3 UTSW 12 104,963,754 (GRCm39) start gained probably benign
R7931:Syne3 UTSW 12 104,929,491 (GRCm39) missense probably damaging 0.97
R8973:Syne3 UTSW 12 104,925,654 (GRCm39) critical splice donor site probably null
R9031:Syne3 UTSW 12 104,905,871 (GRCm39) missense probably benign 0.45
R9263:Syne3 UTSW 12 104,934,415 (GRCm39) missense probably damaging 1.00
R9579:Syne3 UTSW 12 104,942,107 (GRCm39) missense probably damaging 0.96
R9665:Syne3 UTSW 12 104,924,247 (GRCm39) missense probably benign 0.01
R9668:Syne3 UTSW 12 104,898,468 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07