Incidental Mutation 'IGL00508:Syt9'
ID 14333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt9
Ensembl Gene ENSMUSG00000062542
Gene Name synaptotagmin IX
Synonyms Sytv
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00508
Quality Score
Status
Chromosome 7
Chromosomal Location 106969935-107147863 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 107024574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 156 (R156*)
Ref Sequence ENSEMBL: ENSMUSP00000122049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073459] [ENSMUST00000130414] [ENSMUST00000137663]
AlphaFold Q9R0N9
Predicted Effect probably null
Transcript: ENSMUST00000073459
AA Change: R156*
SMART Domains Protein: ENSMUSP00000073164
Gene: ENSMUSG00000062542
AA Change: R156*

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 null
Transcript: ENSMUST00000130414
AA Change: R156*
SMART Domains Protein: ENSMUSP00000122049
Gene: ENSMUSG00000062542
AA Change: R156*

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,654,306 (GRCm39) D2188E probably damaging Het
Atrx A G X: 104,867,405 (GRCm39) S2026P probably damaging Het
Cacna1b A C 2: 24,547,301 (GRCm39) probably null Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cfap57 C T 4: 118,438,367 (GRCm39) probably null Het
Ckap5 T G 2: 91,436,601 (GRCm39) V1567G probably damaging Het
Cyp2c38 A T 19: 39,449,169 (GRCm39) Y61* probably null Het
D130052B06Rik A G 11: 33,549,402 (GRCm39) E7G unknown Het
Dhx38 A G 8: 110,283,566 (GRCm39) L527P possibly damaging Het
Dnaaf5 A G 5: 139,163,701 (GRCm39) N653D probably benign Het
Dnah8 T G 17: 31,074,904 (GRCm39) M4541R probably damaging Het
Dpyd A T 3: 118,858,636 (GRCm39) T617S probably benign Het
Fpr2 A T 17: 18,113,034 (GRCm39) N10I probably damaging Het
Frmd4a A T 2: 4,599,545 (GRCm39) K524* probably null Het
Gpr45 C T 1: 43,071,452 (GRCm39) P32S possibly damaging Het
H2-Eb2 A T 17: 34,553,341 (GRCm39) I176F probably damaging Het
Hcrtr1 T A 4: 130,031,062 (GRCm39) N74I probably damaging Het
Ifi47 C T 11: 48,986,241 (GRCm39) Q3* probably null Het
Krt8 T A 15: 101,906,460 (GRCm39) M350L probably benign Het
Lilra6 A G 7: 3,914,553 (GRCm39) S533P probably benign Het
Map1b A T 13: 99,565,741 (GRCm39) S2327T unknown Het
Mcoln3 T A 3: 145,839,683 (GRCm39) I345N probably damaging Het
Mettl3 C A 14: 52,532,436 (GRCm39) probably benign Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Micall1 A G 15: 79,014,768 (GRCm39) K715E probably damaging Het
Pak1 G T 7: 97,503,775 (GRCm39) G37C probably benign Het
Pomt2 T G 12: 87,166,401 (GRCm39) H426P probably damaging Het
Pou2f3 G A 9: 43,051,258 (GRCm39) P155S probably benign Het
Psg25 A G 7: 18,263,656 (GRCm39) Y56H probably benign Het
Rab9 G T X: 165,240,860 (GRCm39) Y150* probably null Het
Rhox2g T A X: 36,824,463 (GRCm39) N152I probably damaging Het
Sema6d T C 2: 124,498,844 (GRCm39) probably benign Het
Simc1 C A 13: 54,672,989 (GRCm39) Q446K probably benign Het
Svs5 G T 2: 164,078,962 (GRCm39) T315K possibly damaging Het
Tmem260 A T 14: 48,746,578 (GRCm39) Y618F probably damaging Het
Wdr44 A G X: 23,666,783 (GRCm39) I719V possibly damaging Het
Zfp518a T G 19: 40,901,914 (GRCm39) I614M probably damaging Het
Other mutations in Syt9
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4134:Syt9 UTSW 7 107,035,630 (GRCm39) missense probably benign 0.22
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
Posted On 2012-12-06