Incidental Mutation 'R6957:Syne3'
ID 541530
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 045068-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6957 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 104896192-104976068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104920561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 458 (L458Q)
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: L458Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: L458Q

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: L545Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: L545Q

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: L458Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: L458Q

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: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A G 1: 138,779,857 (GRCm39) S132P probably damaging Het
Abcb5 A G 12: 118,871,270 (GRCm39) F710L probably damaging Het
Acsm4 T G 7: 119,310,622 (GRCm39) V503G probably damaging Het
Adam26a T A 8: 44,021,940 (GRCm39) M517L probably benign Het
Adcy10 C A 1: 165,391,854 (GRCm39) L1345I probably damaging Het
Adgrv1 T C 13: 81,715,609 (GRCm39) I860V probably benign Het
Alcam T C 16: 52,097,257 (GRCm39) D333G probably damaging Het
Amt C A 9: 108,177,032 (GRCm39) F213L possibly damaging Het
Ascc3 A G 10: 50,604,278 (GRCm39) T1333A probably damaging Het
Asxl3 C A 18: 22,655,148 (GRCm39) L1053I probably damaging Het
Atxn10 T C 15: 85,220,699 (GRCm39) S12P probably damaging Het
AU021092 T C 16: 5,030,017 (GRCm39) I333V probably benign Het
Birc6 A G 17: 74,886,486 (GRCm39) I577V probably benign Het
Cadm2 A T 16: 66,609,726 (GRCm39) F132I probably benign Het
Casp3 T A 8: 47,087,308 (GRCm39) V85D probably damaging Het
Ccdc168 C T 1: 44,096,367 (GRCm39) C1577Y probably benign Het
Ccdc85a A T 11: 28,342,944 (GRCm39) probably benign Het
Cd22 T C 7: 30,566,999 (GRCm39) R760G possibly damaging Het
Cela3a A T 4: 137,135,441 (GRCm39) W41R probably damaging Het
Cep164 A G 9: 45,683,578 (GRCm39) probably null Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Ddx20 C A 3: 105,591,626 (GRCm39) K181N probably benign Het
Dnah14 G C 1: 181,612,740 (GRCm39) A3846P possibly damaging Het
Ern1 A C 11: 106,294,365 (GRCm39) I813S probably damaging Het
Fam181a G A 12: 103,282,773 (GRCm39) G226D probably damaging Het
Fam186a T A 15: 99,844,357 (GRCm39) D629V unknown Het
Gipr T A 7: 18,898,529 (GRCm39) T26S probably benign Het
Gm3159 A G 14: 4,398,530 (GRCm38) R74G possibly damaging Het
Greb1l G A 18: 10,558,786 (GRCm39) V1814I probably benign Het
Hacd1 A T 2: 14,049,664 (GRCm39) V98E probably damaging Het
Iars1 T G 13: 49,875,637 (GRCm39) F775V probably damaging Het
Il12rb2 G A 6: 67,269,636 (GRCm39) L726F possibly damaging Het
Itih4 T C 14: 30,614,560 (GRCm39) V474A probably damaging Het
Kmt2a A C 9: 44,731,319 (GRCm39) probably benign Het
Ktn1 T A 14: 47,904,810 (GRCm39) L196* probably null Het
Lipo4 A G 19: 33,476,767 (GRCm39) V327A probably benign Het
Lratd2 T C 15: 60,694,934 (GRCm39) T271A probably benign Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp4 C A 2: 91,317,387 (GRCm39) T837K probably damaging Het
Mad1l1 G T 5: 140,051,572 (GRCm39) F664L probably damaging Het
Mecr A G 4: 131,589,172 (GRCm39) T247A probably benign Het
Msi1 G A 5: 115,583,483 (GRCm39) A228T probably benign Het
Mup5 T A 4: 61,751,273 (GRCm39) N125I probably damaging Het
Mybl2 C T 2: 162,914,728 (GRCm39) S282F possibly damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nalcn T C 14: 123,744,966 (GRCm39) D354G probably damaging Het
Nckap1l T C 15: 103,399,938 (GRCm39) V1040A possibly damaging Het
Nlrp12 T A 7: 3,271,160 (GRCm39) D1051V probably damaging Het
Nudt7 A G 8: 114,860,385 (GRCm39) K16R probably benign Het
Or4b1 G T 2: 89,979,494 (GRCm39) Y285* probably null Het
Or8g29-ps1 A G 9: 39,200,577 (GRCm39) V203A unknown Het
Paqr3 A T 5: 97,256,110 (GRCm39) I88K possibly damaging Het
Parp9 A G 16: 35,768,716 (GRCm39) M299V probably benign Het
Pde4dip A T 3: 97,731,649 (GRCm39) probably null Het
Pex13 T G 11: 23,605,628 (GRCm39) M201L probably benign Het
Pfas C A 11: 68,884,709 (GRCm39) V498L probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Plec T A 15: 76,070,414 (GRCm39) D932V probably damaging Het
Qng1 C A 13: 58,529,775 (GRCm39) C279F probably damaging Het
Qsox2 C T 2: 26,107,654 (GRCm39) A445T probably benign Het
Rapgef1 C A 2: 29,623,710 (GRCm39) Q820K possibly damaging Het
Samd13 A G 3: 146,368,424 (GRCm39) probably null Het
Samm50 G T 15: 84,082,850 (GRCm39) D104Y probably damaging Het
Sbk3 A T 7: 4,970,522 (GRCm39) F282L probably benign Het
Sfmbt1 C T 14: 30,509,546 (GRCm39) H342Y probably benign Het
Sgo2b CCATCATCATCATCATCATCAT CCATCATCATCATCATCAT 8: 64,384,489 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,043,344 (GRCm39) L596* probably null Het
Spata31h1 A T 10: 82,129,620 (GRCm39) I1130K probably benign Het
St8sia3 T C 18: 64,404,853 (GRCm39) S377P probably benign Het
Stmnd1 T G 13: 46,427,375 (GRCm39) S28A probably benign Het
Synm C T 7: 67,385,848 (GRCm39) V163I probably benign Het
Tbc1d23 A G 16: 57,028,686 (GRCm39) C161R probably damaging Het
Tnfrsf4 G A 4: 156,100,625 (GRCm39) V215I probably benign Het
Vars2 T G 17: 35,977,967 (GRCm39) K67Q probably benign Het
Vmn2r13 A T 5: 109,304,753 (GRCm39) Y559* probably null Het
Wdpcp T C 11: 21,671,154 (GRCm39) I465T possibly damaging Het
Zwilch A C 9: 64,069,844 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGATTCCATTGAGACCCACG -3'
(R):5'- TGCACAGACAATGGCTAAAGTG -3'

Sequencing Primer
(F):5'- ATCCCGGCAGTAATGGACC -3'
(R):5'- TGGCTAAAGTGTGATAAGGGGACAC -3'
Posted On 2018-11-28