Incidental Mutation 'R6596:Syngr1'
ID 526010
Institutional Source Beutler Lab
Gene Symbol Syngr1
Ensembl Gene ENSMUSG00000022415
Gene Name synaptogyrin 1
Synonyms Syngr1b, p29
MMRRC Submission 044720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 79975537-80003702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79995893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 144 (T144M)
Ref Sequence ENSEMBL: ENSMUSP00000009728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009727] [ENSMUST00000009728] [ENSMUST00000135727] [ENSMUST00000143928]
AlphaFold O55100
Predicted Effect probably damaging
Transcript: ENSMUST00000009727
AA Change: T144M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000009727
Gene: ENSMUSG00000022415
AA Change: T144M

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:MARVEL 20 167 6e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000009728
AA Change: T144M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000009728
Gene: ENSMUSG00000022415
AA Change: T144M

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:MARVEL 20 167 1.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135727
Predicted Effect probably benign
Transcript: ENSMUST00000143928
SMART Domains Protein: ENSMUSP00000120696
Gene: ENSMUSG00000022415

DomainStartEndE-ValueType
Pfam:MARVEL 4 111 1.2e-24 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a moderate decrease in post-tetanic potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,819,984 (GRCm39) C135S possibly damaging Het
Bag4 C T 8: 26,259,528 (GRCm39) D224N probably damaging Het
Cldn15 T A 5: 137,003,533 (GRCm39) C178* probably null Het
Col7a1 C A 9: 108,783,409 (GRCm39) probably benign Het
Crnn G A 3: 93,054,182 (GRCm39) E22K probably damaging Het
Dcstamp A C 15: 39,617,605 (GRCm39) T5P possibly damaging Het
Dennd4a A G 9: 64,759,702 (GRCm39) Y269C probably damaging Het
Dsg1c T A 18: 20,403,581 (GRCm39) probably null Het
Duox2 C T 2: 122,115,819 (GRCm39) V972I probably benign Het
Eif1ad15 C A 12: 88,288,057 (GRCm39) L65F possibly damaging Het
Ephb1 A C 9: 102,072,001 (GRCm39) Y259* probably null Het
Fam149a G T 8: 45,834,667 (GRCm39) T44K probably benign Het
Fn1 A G 1: 71,648,641 (GRCm39) Y1423H probably damaging Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gfm2 C T 13: 97,301,657 (GRCm39) P487S probably damaging Het
Hyou1 A G 9: 44,299,052 (GRCm39) E625G probably benign Het
Kmt5a G A 5: 124,588,759 (GRCm39) V121M probably benign Het
Mindy4 T C 6: 55,201,001 (GRCm39) S229P probably damaging Het
Muc16 T C 9: 18,478,011 (GRCm39) D7098G probably benign Het
Nsf A T 11: 103,801,283 (GRCm39) I244N probably damaging Het
Obox1 C T 7: 15,289,301 (GRCm39) S72L probably damaging Het
Or4b1 T A 2: 89,979,622 (GRCm39) T243S possibly damaging Het
Or5d38 C T 2: 87,954,543 (GRCm39) C262Y probably damaging Het
Pcdhb7 A T 18: 37,476,414 (GRCm39) I517F probably damaging Het
Plk2 C T 13: 110,534,296 (GRCm39) A292V probably benign Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Rasgrf1 A T 9: 89,894,847 (GRCm39) N1089I possibly damaging Het
Robo2 T A 16: 73,767,996 (GRCm39) N603Y probably damaging Het
Slc35f4 G A 14: 49,763,057 (GRCm39) A5V probably damaging Het
Smc4 A T 3: 68,933,226 (GRCm39) I616F probably damaging Het
Sorl1 T G 9: 41,912,899 (GRCm39) N1361H possibly damaging Het
Tbc1d16 A C 11: 119,048,601 (GRCm39) W351G probably damaging Het
Tbx15 A G 3: 99,259,508 (GRCm39) S460G probably benign Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Tpte T C 8: 22,823,285 (GRCm39) L304P probably damaging Het
Tubgcp5 T A 7: 55,456,382 (GRCm39) F325I probably benign Het
Ucp3 A T 7: 100,131,140 (GRCm39) I198F probably benign Het
Vit T C 17: 78,930,274 (GRCm39) V413A probably benign Het
Xrcc6 T C 15: 81,907,155 (GRCm39) M1T probably null Het
Other mutations in Syngr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2092:Syngr1 UTSW 15 80,000,141 (GRCm39) missense possibly damaging 0.93
R2508:Syngr1 UTSW 15 79,995,941 (GRCm39) missense probably damaging 1.00
R3887:Syngr1 UTSW 15 80,000,240 (GRCm39) missense probably damaging 0.99
R5091:Syngr1 UTSW 15 80,000,086 (GRCm39) missense probably damaging 1.00
R5255:Syngr1 UTSW 15 79,975,647 (GRCm39) missense possibly damaging 0.78
R5271:Syngr1 UTSW 15 79,982,240 (GRCm39) missense probably benign 0.01
R5440:Syngr1 UTSW 15 79,982,219 (GRCm39) missense probably benign
R6369:Syngr1 UTSW 15 79,999,791 (GRCm39) unclassified probably benign
R7216:Syngr1 UTSW 15 79,995,934 (GRCm39) missense probably damaging 1.00
R7834:Syngr1 UTSW 15 79,995,818 (GRCm39) missense probably damaging 1.00
R8395:Syngr1 UTSW 15 79,997,445 (GRCm39) missense probably benign 0.00
R9746:Syngr1 UTSW 15 79,975,659 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- AACATGCTCTTGAACTGTCCC -3'
(R):5'- TTCCACATCAAGCCAAGGGG -3'

Sequencing Primer
(F):5'- GAACTGTCCCCCTGTTCCTTGG -3'
(R):5'- TCGCTCAGGGAGGCTGG -3'
Posted On 2018-06-22