Incidental Mutation 'R7591:Syne3'
ID 587412
Institutional Source Beutler Lab
Gene Symbol Syne3
Ensembl Gene ENSMUSG00000054150
Gene Name spectrin repeat containing, nuclear envelope family member 3
Synonyms 4831426I19Rik, nesprin-3beta, nesprin-3alpha, nesprin-3
MMRRC Submission 045638-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7591 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 104896192-104976068 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 104906863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067005] [ENSMUST00000067005] [ENSMUST00000095439] [ENSMUST00000095439] [ENSMUST00000109927] [ENSMUST00000109927]
AlphaFold Q4FZC9
Predicted Effect probably null
Transcript: ENSMUST00000067005
SMART Domains Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150

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 null
Transcript: ENSMUST00000067005
SMART Domains Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150

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 null
Transcript: ENSMUST00000095439
SMART Domains Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150

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 null
Transcript: ENSMUST00000095439
SMART Domains Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150

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 null
Transcript: ENSMUST00000109927
SMART Domains Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150

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 null
Transcript: ENSMUST00000109927
SMART Domains Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccne2 T C 4: 11,201,393 (GRCm39) I307T probably benign Het
Chrm3 A T 13: 9,927,349 (GRCm39) C562* probably null Het
Cldn11 A T 3: 31,204,436 (GRCm39) E46D probably benign Het
Cyp4a14 A G 4: 115,347,157 (GRCm39) probably null Het
Dbh A G 2: 27,060,522 (GRCm39) T233A probably damaging Het
Dennd2c T A 3: 103,040,661 (GRCm39) Y309N possibly damaging Het
Dnttip2 T A 3: 122,070,117 (GRCm39) L444* probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epop A T 11: 97,519,158 (GRCm39) V317E probably damaging Het
Eppk1 T C 15: 75,991,797 (GRCm39) T1695A possibly damaging Het
Fam149a T A 8: 45,803,472 (GRCm39) I421F possibly damaging Het
Impa2 T C 18: 67,451,480 (GRCm39) L258P probably damaging Het
Itga1 G A 13: 115,119,315 (GRCm39) R855W probably damaging Het
Kcnh5 T C 12: 75,054,541 (GRCm39) T468A probably benign Het
Kif11 A G 19: 37,372,711 (GRCm39) K33R probably damaging Het
Lamb1 C A 12: 31,376,647 (GRCm39) A1657E probably damaging Het
Macc1 T C 12: 119,410,393 (GRCm39) V387A probably damaging Het
Nalcn T C 14: 123,561,297 (GRCm39) T734A probably benign Het
Nphp3 T C 9: 103,895,477 (GRCm39) probably null Het
Nutm2 A G 13: 50,627,903 (GRCm39) I461M probably damaging Het
Or14p1 T C 13: 65,292,462 (GRCm39) F130L probably benign Het
Or4p7 G A 2: 88,222,220 (GRCm39) V210M probably benign Het
Or4s2 A C 2: 88,473,811 (GRCm39) K233N probably damaging Het
Or5b112 A G 19: 13,319,619 (GRCm39) S166G probably benign Het
Pigo T C 4: 43,025,093 (GRCm39) N2S probably benign Het
Plcl1 A T 1: 55,736,608 (GRCm39) I650L probably benign Het
Ppcdc A T 9: 57,342,262 (GRCm39) V20D probably damaging Het
Pramel27 A T 4: 143,577,481 (GRCm39) I88L probably benign Het
Rhobtb2 A G 14: 70,037,190 (GRCm39) V78A possibly damaging Het
Rp1l1 T C 14: 64,263,558 (GRCm39) V226A probably damaging Het
Scrt1 C A 15: 76,403,694 (GRCm39) G99C probably damaging Het
Skint9 A T 4: 112,248,147 (GRCm39) I199N probably damaging Het
Slc5a4a T C 10: 75,983,501 (GRCm39) probably benign Het
Smad3 C T 9: 63,561,999 (GRCm39) W326* probably null Het
Spata18 A T 5: 73,829,759 (GRCm39) I305F Het
Spata31h1 C A 10: 82,128,046 (GRCm39) V1655F probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Trim69 G A 2: 121,998,454 (GRCm39) R142Q probably benign Het
Vmn1r40 A T 6: 89,691,755 (GRCm39) I191F probably benign Het
Vmn2r16 T A 5: 109,510,223 (GRCm39) D535E probably damaging Het
Vwa5b2 A G 16: 20,420,317 (GRCm39) E742G probably damaging Het
Zfp442 A T 2: 150,250,092 (GRCm39) Y603* probably null Het
Zp1 T C 19: 10,896,835 (GRCm39) N68S probably damaging Het
Other mutations in Syne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Syne3 APN 12 104,924,328 (GRCm39) missense probably benign 0.00
IGL01986:Syne3 APN 12 104,934,259 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTAGTCATAGACTCCAGCCTCC -3'
(R):5'- ATCCTTATCAGCCAGGTGGG -3'

Sequencing Primer
(F):5'- CTCCCTGGGAGGTAAGATGG -3'
(R):5'- CCAGGTGGGGTTCTTGAGCC -3'
Posted On 2019-10-24