Incidental Mutation 'R4134:Syt9'
ID 314808
Institutional Source Beutler Lab
Gene Symbol Syt9
Ensembl Gene ENSMUSG00000062542
Gene Name synaptotagmin IX
Synonyms Sytv
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4134 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 106969935-107147863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107035630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 216 (S216G)
Ref Sequence ENSEMBL: ENSMUSP00000073164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073459] [ENSMUST00000130414] [ENSMUST00000137663]
AlphaFold Q9R0N9
Predicted Effect probably benign
Transcript: ENSMUST00000073459
AA Change: S216G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000073164
Gene: ENSMUSG00000062542
AA Change: S216G

DomainStartEndE-ValueType
low complexity region 37 49 N/A INTRINSIC
Blast:C2 53 166 7e-54 BLAST
C2 236 339 1.8e-26 SMART
C2 368 482 1.6e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130414
SMART Domains Protein: ENSMUSP00000122049
Gene: ENSMUSG00000062542

DomainStartEndE-ValueType
low complexity region 37 49 N/A INTRINSIC
Blast:C2 53 166 3e-57 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000137663
SMART Domains Protein: ENSMUSP00000117969
Gene: ENSMUSG00000062542

DomainStartEndE-ValueType
low complexity region 37 48 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit 50% embryonic lethality while cre-mediated removal of a conditional allele impairs inhibitions of postsynaptic currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ces1g T C 8: 94,046,500 (GRCm39) T342A probably benign Het
Clip2 A G 5: 134,521,107 (GRCm39) V977A probably benign Het
Cnot11 T C 1: 39,576,629 (GRCm39) V211A probably benign Het
Dcaf12l1 T C X: 43,878,330 (GRCm39) N156S probably damaging Het
Dennd2d T A 3: 106,389,977 (GRCm39) D2E probably benign Het
F2 T C 2: 91,459,553 (GRCm39) D410G possibly damaging Het
Gabrb3 G T 7: 57,241,036 (GRCm39) A5S probably benign Het
Gcnt2 T A 13: 41,041,283 (GRCm39) N147K probably damaging Het
Greb1l T C 18: 10,529,708 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,430 (GRCm39) W38R probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspg2 A T 4: 137,283,968 (GRCm39) Q3446L probably damaging Het
Htr5a A G 5: 28,047,690 (GRCm39) M82V probably benign Het
Itgb4 G T 11: 115,897,296 (GRCm39) G1454V probably benign Het
Lrrc9 T C 12: 72,513,740 (GRCm39) S534P probably benign Het
Nkx6-1 T A 5: 101,807,371 (GRCm39) D337V probably damaging Het
Npm2 C T 14: 70,885,822 (GRCm39) E128K possibly damaging Het
Nyap2 A G 1: 81,218,908 (GRCm39) D310G probably damaging Het
Or2l13b T A 16: 19,349,452 (GRCm39) I73F possibly damaging Het
Or4l1 T C 14: 50,166,272 (GRCm39) H243R probably damaging Het
Pum1 A T 4: 130,491,380 (GRCm39) I770F probably damaging Het
Rreb1 A T 13: 38,131,099 (GRCm39) N1418Y probably damaging Het
Tep1 G A 14: 51,082,317 (GRCm39) H1120Y probably benign Het
Ttn T A 2: 76,715,138 (GRCm39) probably benign Het
Vmn1r8 A G 6: 57,013,705 (GRCm39) D252G probably benign Het
Vwa5b1 A T 4: 138,321,641 (GRCm39) M384K possibly damaging Het
Zfhx2 G A 14: 55,302,600 (GRCm39) P1795S possibly damaging Het
Zfhx4 T C 3: 5,308,687 (GRCm39) S638P probably damaging Het
Zfp677 A G 17: 21,618,043 (GRCm39) T367A probably benign Het
Zfp729a C A 13: 67,767,925 (GRCm39) C768F probably damaging Het
Zfp810 T C 9: 22,190,369 (GRCm39) K180E probably damaging Het
Other mutations in Syt9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Syt9 APN 7 107,024,574 (GRCm39) nonsense probably null
IGL00541:Syt9 APN 7 107,101,387 (GRCm39) missense probably null 1.00
IGL01161:Syt9 APN 7 107,024,356 (GRCm39) missense probably damaging 0.97
IGL01705:Syt9 APN 7 107,035,559 (GRCm39) missense probably damaging 0.96
IGL02567:Syt9 APN 7 107,035,868 (GRCm39) missense probably damaging 1.00
IGL03268:Syt9 APN 7 107,035,612 (GRCm39) missense probably benign 0.01
R0684:Syt9 UTSW 7 107,024,343 (GRCm39) missense probably damaging 1.00
R0743:Syt9 UTSW 7 107,035,768 (GRCm39) missense probably damaging 0.97
R0835:Syt9 UTSW 7 107,105,737 (GRCm39) missense probably benign 0.30
R0884:Syt9 UTSW 7 107,035,768 (GRCm39) missense probably damaging 0.97
R1114:Syt9 UTSW 7 107,024,562 (GRCm39) missense possibly damaging 0.93
R1502:Syt9 UTSW 7 107,035,694 (GRCm39) missense probably damaging 1.00
R1885:Syt9 UTSW 7 107,035,736 (GRCm39) missense probably damaging 1.00
R1962:Syt9 UTSW 7 107,024,314 (GRCm39) missense probably damaging 1.00
R2368:Syt9 UTSW 7 107,035,906 (GRCm39) missense probably damaging 1.00
R2421:Syt9 UTSW 7 107,035,988 (GRCm39) missense probably benign 0.39
R4477:Syt9 UTSW 7 107,024,428 (GRCm39) missense probably damaging 1.00
R4602:Syt9 UTSW 7 107,035,594 (GRCm39) nonsense probably null
R4685:Syt9 UTSW 7 107,035,678 (GRCm39) missense possibly damaging 0.89
R4977:Syt9 UTSW 7 107,103,479 (GRCm39) missense probably damaging 1.00
R5141:Syt9 UTSW 7 107,103,426 (GRCm39) missense probably damaging 1.00
R5421:Syt9 UTSW 7 107,024,563 (GRCm39) missense probably benign 0.00
R5440:Syt9 UTSW 7 107,101,330 (GRCm39) missense possibly damaging 0.46
R5633:Syt9 UTSW 7 107,024,503 (GRCm39) missense probably damaging 1.00
R5978:Syt9 UTSW 7 107,035,620 (GRCm39) missense probably benign 0.02
R6260:Syt9 UTSW 7 107,035,717 (GRCm39) missense possibly damaging 0.93
R6733:Syt9 UTSW 7 107,024,503 (GRCm39) missense probably damaging 1.00
R6889:Syt9 UTSW 7 107,024,493 (GRCm39) missense probably damaging 0.99
R7572:Syt9 UTSW 7 107,035,784 (GRCm39) missense probably damaging 1.00
R8080:Syt9 UTSW 7 107,035,997 (GRCm39) missense probably benign
X0018:Syt9 UTSW 7 107,105,781 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- GCTCATGAGGTTTTAACTCTGC -3'
(R):5'- AACACAGGGTTCAGGGTCTTC -3'

Sequencing Primer
(F):5'- CATGAGGTTTTAACTCTGCTGTGTC -3'
(R):5'- AGGGTCTTCCTGTGAACTTTAGTC -3'
Posted On 2015-05-14