Incidental Mutation 'R3943:Insyn1'
ID 307546
Institutional Source Beutler Lab
Gene Symbol Insyn1
Ensembl Gene ENSMUSG00000066607
Gene Name inhibitory synaptic factor 1
Synonyms 6030419C18Rik
MMRRC Submission 040924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R3943 (G1)
Quality Score 124
Status 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp A G 2: 168,026,980 (GRCm39) I105T possibly damaging Het
Atf3 A G 1: 190,903,713 (GRCm39) I171T possibly damaging Het
Atp6v0a1 A G 11: 100,946,343 (GRCm39) I773V probably benign Het
Bltp2 T A 11: 78,160,350 (GRCm39) L603* probably null Het
Cad T A 5: 31,229,729 (GRCm39) probably null Het
Camkv T A 9: 107,825,182 (GRCm39) D366E possibly damaging Het
Dnah8 T A 17: 30,913,039 (GRCm39) probably benign Het
Dock7 A G 4: 98,880,668 (GRCm39) S932P probably damaging Het
Fam227a C T 15: 79,505,060 (GRCm39) probably benign Het
Fbp2 A G 13: 62,989,607 (GRCm39) F233S possibly damaging Het
Gnptab G T 10: 88,269,756 (GRCm39) V820L probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpr158 C A 2: 21,373,370 (GRCm39) R102S possibly damaging Het
Gramd1b A T 9: 40,442,340 (GRCm39) M1K probably null Het
H2-T23 A G 17: 36,341,535 (GRCm39) V312A probably benign Het
Hltf A T 3: 20,146,908 (GRCm39) I494F probably damaging Het
Il16 G A 7: 83,301,223 (GRCm39) L300F probably damaging Het
Kcnq1 T C 7: 142,979,825 (GRCm39) L657P probably damaging Het
Krt4 G A 15: 101,829,685 (GRCm39) T281M probably benign Het
Mia3 A G 1: 183,140,127 (GRCm39) F196S possibly damaging Het
Naip6 T C 13: 100,431,247 (GRCm39) T1197A probably benign Het
Nrxn2 T A 19: 6,523,365 (GRCm39) N204K probably damaging Het
Or7g27 T A 9: 19,250,371 (GRCm39) M205K probably benign Het
Rassf6 G T 5: 90,752,185 (GRCm39) Q258K possibly damaging Het
Rhpn1 T C 15: 75,583,655 (GRCm39) L380P probably damaging Het
Ribc2 A G 15: 85,019,451 (GRCm39) M78V probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint5 T A 4: 113,799,950 (GRCm39) H73L probably damaging Het
Smg6 G A 11: 74,820,367 (GRCm39) G213R probably damaging Het
Sspn T A 6: 145,880,083 (GRCm39) W62R probably damaging Het
Stard9 A G 2: 120,528,710 (GRCm39) S1656G probably benign Het
Svep1 T A 4: 58,084,807 (GRCm39) probably null Het
Tab1 T C 15: 80,037,941 (GRCm39) L258P probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trf T A 9: 103,100,151 (GRCm39) I271F probably benign Het
Trpm7 A T 2: 126,673,138 (GRCm39) N538K possibly damaging Het
Usp28 T A 9: 48,911,666 (GRCm39) L25I probably benign Het
Vmn2r14 A T 5: 109,363,930 (GRCm39) I662N probably damaging Het
Vmn2r42 A T 7: 8,197,779 (GRCm39) F280Y possibly damaging Het
Vps8 A T 16: 21,288,873 (GRCm39) N411Y probably damaging Het
Vwa2 T G 19: 56,897,747 (GRCm39) L684R probably damaging Het
Zfp712 T C 13: 67,189,396 (GRCm39) Q377R probably benign Het
Zfp947 C A 17: 22,364,801 (GRCm39) G291V probably damaging Het
Zpld2 T C 4: 133,927,656 (GRCm39) T366A probably benign Het
Other mutations in Insyn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03367:Insyn1 APN 9 58,406,381 (GRCm39) missense probably damaging 1.00
R1234:Insyn1 UTSW 9 58,406,715 (GRCm39) small deletion probably benign
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
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'- ACTACCAGCTCATGAATGGTG -3'
(R):5'- TGATACTGTCTGAGTGCTGC -3'

Sequencing Primer
(F):5'- CTACCAGCTCATGAATGGTGGTTTG -3'
(R):5'- ATACTGTCTGAGTGCTGCTGTTCC -3'
Posted On 2015-04-17