Incidental Mutation 'R1321:Syne3'
ID 157693
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 039387-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1321 (G1)
Quality Score 172
Status Validated
Chromosome 12
Chromosomal Location 104896192-104976068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 104942055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 29 (V29G)
Ref Sequence ENSEMBL: ENSMUSP00000093090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067005] [ENSMUST00000095439] [ENSMUST00000109927]
AlphaFold Q4FZC9
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000095439
AA Change: V29G

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: V29G

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
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
Meta Mutation Damage Score 0.1536 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.1%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,945,318 (GRCm39) probably benign Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
C2cd2l A G 9: 44,228,878 (GRCm39) probably null Het
Cass4 T A 2: 172,266,572 (GRCm39) L205Q probably benign Het
Ccn3 G T 15: 54,612,642 (GRCm39) C217F probably damaging Het
Celsr3 G A 9: 108,713,069 (GRCm39) D1834N probably damaging Het
Col12a1 A T 9: 79,524,991 (GRCm39) C2723* probably null Het
Cps1 A G 1: 67,182,178 (GRCm39) probably benign Het
Dolpp1 A G 2: 30,285,748 (GRCm39) I49V possibly damaging Het
Dppa2 A G 16: 48,131,999 (GRCm39) E32G possibly damaging Het
Eif2b5 C T 16: 20,323,439 (GRCm39) R397* probably null Het
Far2 G T 6: 148,075,034 (GRCm39) probably benign Het
Fbxo42 C T 4: 140,895,160 (GRCm39) T41I probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Galnt13 G A 2: 54,988,606 (GRCm39) R476Q probably damaging Het
Galnt18 A T 7: 111,378,639 (GRCm39) V39E probably benign Het
Gm10801 C T 2: 98,494,252 (GRCm39) probably benign Het
Gm21954 C T 3: 55,379,627 (GRCm39) probably benign Het
Lct A C 1: 128,227,759 (GRCm39) L1245V probably benign Het
Lgr5 T C 10: 115,314,362 (GRCm39) T192A probably damaging Het
Mrpl42 C T 10: 95,329,573 (GRCm39) V46M probably damaging Het
Mybpc1 C T 10: 88,365,403 (GRCm39) V907M possibly damaging Het
Mybpc1 T A 10: 88,406,463 (GRCm39) Y127F probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Otud4 T C 8: 80,396,579 (GRCm39) S613P probably benign Het
P2ry12 T C 3: 59,124,646 (GRCm39) E343G possibly damaging Het
Pbrm1 A C 14: 30,789,459 (GRCm39) K670T probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Reg3b A G 6: 78,349,936 (GRCm39) probably null Het
Sppl3 TGG TG 5: 115,226,352 (GRCm39) probably null Het
Ssr2 T C 3: 88,484,261 (GRCm39) probably benign Het
Ubr4 T C 4: 139,187,434 (GRCm39) V3834A possibly damaging Het
Vmn2r112 C T 17: 22,837,500 (GRCm39) Q654* probably null Het
Vmn2r14 C T 5: 109,364,117 (GRCm39) V600I probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly 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
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
Predicted Primers PCR Primer
(F):5'- CAGATTCCCGCCCTGAAATGGAAG -3'
(R):5'- TAAGATTGACAGCCGTGCCGAG -3'

Sequencing Primer
(F):5'- ACAGAATGCAGGCTCTGTC -3'
(R):5'- ggtggtggtggtggtgg -3'
Posted On 2014-02-18