Incidental Mutation 'R1234:Insyn1'
ID 152388
Institutional Source Beutler Lab
Gene Symbol Insyn1
Ensembl Gene ENSMUSG00000066607
Gene Name inhibitory synaptic factor 1
Synonyms 6030419C18Rik
MMRRC Submission 039302-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1234 (G1)
Quality Score 101
Status Not validated
Chromosome 9
Chromosomal Location 58395886-58407063 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) AGAGGAGGAGGAGGAGG to AGAGGAGGAGGAGG at 58406715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085658] [ENSMUST00000216294]
AlphaFold Q8CD60
Predicted Effect probably benign
Transcript: ENSMUST00000085658
SMART Domains Protein: ENSMUSP00000082800
Gene: ENSMUSG00000066607

DomainStartEndE-ValueType
Pfam:DUF4589 52 279 2e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216294
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccn1 A G 3: 145,355,594 (GRCm39) probably benign Het
Cd300e T A 11: 114,946,192 (GRCm39) I90F probably damaging Het
Dclk1 T C 3: 55,397,298 (GRCm39) I528T probably damaging Het
Dnajc13 T C 9: 104,091,356 (GRCm39) N645S possibly damaging Het
Efhb A T 17: 53,758,615 (GRCm39) Y340* probably null Het
Fhod1 T C 8: 106,063,795 (GRCm39) probably benign Het
Hk2 G A 6: 82,737,229 (GRCm39) H28Y possibly damaging Het
Hmcn1 G A 1: 150,629,405 (GRCm39) R951* probably null Het
Mapkapk2 G A 1: 130,983,513 (GRCm39) R334* probably null Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Psg18 A T 7: 18,083,115 (GRCm39) S347T probably damaging Het
Ptk6 C T 2: 180,844,233 (GRCm39) R22Q possibly damaging Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Ssrp1 T C 2: 84,872,607 (GRCm39) F415S probably damaging Het
Stab1 A G 14: 30,872,193 (GRCm39) L1198P probably damaging Het
Tcf23 T C 5: 31,127,566 (GRCm39) Y123H probably damaging Het
Vars2 T C 17: 35,978,038 (GRCm39) N43S probably damaging Het
Vmn2r79 A T 7: 86,653,307 (GRCm39) E524V possibly damaging Het
Xrcc1 T C 7: 24,267,270 (GRCm39) V373A possibly damaging Het
Other mutations in Insyn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03367:Insyn1 APN 9 58,406,381 (GRCm39) missense probably damaging 1.00
R1367:Insyn1 UTSW 9 58,406,263 (GRCm39) missense probably damaging 1.00
R1385:Insyn1 UTSW 9 58,406,715 (GRCm39) small deletion probably benign
R1615:Insyn1 UTSW 9 58,406,351 (GRCm39) missense probably damaging 0.96
R1850:Insyn1 UTSW 9 58,406,392 (GRCm39) missense probably benign
R2088:Insyn1 UTSW 9 58,406,288 (GRCm39) missense probably damaging 1.00
R3943:Insyn1 UTSW 9 58,406,715 (GRCm39) small deletion probably benign
R3955:Insyn1 UTSW 9 58,406,906 (GRCm39) missense probably damaging 1.00
R4614:Insyn1 UTSW 9 58,406,715 (GRCm39) small deletion probably benign
R6164:Insyn1 UTSW 9 58,406,530 (GRCm39) missense probably damaging 0.96
R6622:Insyn1 UTSW 9 58,406,533 (GRCm39) missense probably benign 0.00
R7561:Insyn1 UTSW 9 58,406,687 (GRCm39) missense probably damaging 1.00
R8717:Insyn1 UTSW 9 58,406,623 (GRCm39) missense probably damaging 1.00
R9780:Insyn1 UTSW 9 58,406,881 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACTTTGAACTGGAGCCAGATGAC -3'
(R):5'- AGTGCTGCTGTTCCTTGTGACC -3'

Sequencing Primer
(F):5'- GGCTGATATCCTCTCAGACAG -3'
(R):5'- GTTCCTTGTGACCCTCCG -3'
Posted On 2014-01-29