Incidental Mutation 'R3720:Sybu'
ID 258872
Institutional Source Beutler Lab
Gene Symbol Sybu
Ensembl Gene ENSMUSG00000022340
Gene Name syntabulin (syntaxin-interacting)
Synonyms A830027B17Rik, Golsyn/Syntabulin, 5730410E15Rik
MMRRC Submission 040711-MU
Accession Numbers

Genbank: NM_176998 ; MGI: 2442392

Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R3720 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 44671856-44788063 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44672632 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 766 (V766A)
Ref Sequence ENSEMBL: ENSMUSP00000087511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090057] [ENSMUST00000110267] [ENSMUST00000110269] [ENSMUST00000226214] [ENSMUST00000227305] [ENSMUST00000228057]
AlphaFold Q8BHS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000090057
AA Change: V766A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: V766A

DomainStartEndE-ValueType
low complexity region 51 61 N/A INTRINSIC
low complexity region 112 120 N/A INTRINSIC
low complexity region 148 163 N/A INTRINSIC
low complexity region 174 205 N/A INTRINSIC
low complexity region 264 275 N/A INTRINSIC
low complexity region 276 290 N/A INTRINSIC
low complexity region 320 331 N/A INTRINSIC
Pfam:Syntaphilin 343 638 3.5e-142 PFAM
low complexity region 738 755 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110267
AA Change: V638A

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: V638A

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
low complexity region 46 77 N/A INTRINSIC
low complexity region 136 147 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
Pfam:Syntaphilin 214 511 5.8e-140 PFAM
low complexity region 610 627 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110269
AA Change: V566A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: V566A

DomainStartEndE-ValueType
low complexity region 64 75 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
low complexity region 120 131 N/A INTRINSIC
Pfam:Syntaphilin 142 439 4.4e-140 PFAM
low complexity region 538 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227081
Predicted Effect possibly damaging
Transcript: ENSMUST00000227305
AA Change: V637A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228057
AA Change: V638A

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.1054 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 93% (40/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl1 G A 14: 26,927,844 (GRCm38) T575M probably damaging Het
Atp2c1 A T 9: 105,422,976 (GRCm38) M708K probably damaging Het
C9 A G 15: 6,483,119 (GRCm38) T241A possibly damaging Het
Ccrl2 T C 9: 111,056,364 (GRCm38) D22G probably benign Het
Cd47 A G 16: 49,867,842 (GRCm38) I42V probably benign Het
Cntnap5c T C 17: 58,330,202 (GRCm38) S1025P probably benign Het
Col8a1 T C 16: 57,626,916 (GRCm38) M744V unknown Het
Cstf3 A G 2: 104,653,086 (GRCm38) probably benign Het
Dnah8 G A 17: 30,854,898 (GRCm38) R4514H probably damaging Het
Dnaic1 G A 4: 41,602,615 (GRCm38) R113H probably damaging Het
Fry T C 5: 150,454,572 (GRCm38) S410P probably damaging Het
Glt6d1 ACCC ACCCC 2: 25,795,167 (GRCm38) probably null Het
Gm10717 A G 9: 3,025,532 (GRCm38) Y39C probably benign Het
Hivep1 C T 13: 42,158,601 (GRCm38) T1439I probably benign Het
Iqgap2 T C 13: 95,668,528 (GRCm38) probably null Het
Kbtbd11 T A 8: 15,029,118 (GRCm38) C572* probably null Het
Kif1c T C 11: 70,703,771 (GRCm38) F86L possibly damaging Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Ldb1 C T 19: 46,044,892 (GRCm38) probably benign Het
Lrmda T A 14: 22,027,331 (GRCm38) probably benign Het
Med23 T C 10: 24,891,120 (GRCm38) L369S probably damaging Het
Mei1 A G 15: 82,103,204 (GRCm38) H399R possibly damaging Het
Myo1b G T 1: 51,776,346 (GRCm38) H614N possibly damaging Het
Neurl1b C T 17: 26,414,975 (GRCm38) T4M probably damaging Het
Olfr1095 T C 2: 86,851,591 (GRCm38) T36A probably benign Het
Olfr129 T C 17: 38,055,368 (GRCm38) Y66C probably damaging Het
Polg G A 7: 79,456,791 (GRCm38) Q163* probably null Het
Pramef8 A G 4: 143,419,379 (GRCm38) T473A probably benign Het
Sdk2 G A 11: 113,800,244 (GRCm38) P1835L probably damaging Het
Slc35a5 A T 16: 45,147,322 (GRCm38) I138N probably damaging Het
Snx31 T C 15: 36,523,558 (GRCm38) probably null Het
Speg A T 1: 75,426,782 (GRCm38) H2590L probably damaging Het
Spink4 T A 4: 40,929,136 (GRCm38) C54S probably damaging Het
Swap70 A G 7: 110,270,047 (GRCm38) E349G probably damaging Het
Tns3 G A 11: 8,492,999 (GRCm38) R455W probably damaging Het
Tnxb T A 17: 34,712,964 (GRCm38) V2157E possibly damaging Het
Trak2 A T 1: 58,946,245 (GRCm38) probably null Het
Trav18 C T 14: 53,831,617 (GRCm38) R39C possibly damaging Het
Uroc1 G A 6: 90,346,355 (GRCm38) V352M probably damaging Het
Zfp106 A C 2: 120,534,599 (GRCm38) I442M probably benign Het
Zfp935 G A 13: 62,455,032 (GRCm38) Q98* probably null Het
Other mutations in Sybu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Sybu APN 15 44,672,805 (GRCm38) missense probably damaging 1.00
IGL02211:Sybu APN 15 44,673,466 (GRCm38) missense probably damaging 1.00
IGL02303:Sybu APN 15 44,673,223 (GRCm38) missense probably benign 0.03
E7848:Sybu UTSW 15 44,673,422 (GRCm38) missense probably benign 0.32
R0015:Sybu UTSW 15 44,673,500 (GRCm38) missense probably damaging 0.99
R0015:Sybu UTSW 15 44,673,500 (GRCm38) missense probably damaging 0.99
R0064:Sybu UTSW 15 44,672,993 (GRCm38) missense probably benign 0.00
R0064:Sybu UTSW 15 44,672,993 (GRCm38) missense probably benign 0.00
R0413:Sybu UTSW 15 44,673,272 (GRCm38) missense probably damaging 1.00
R0650:Sybu UTSW 15 44,673,268 (GRCm38) missense probably benign 0.08
R1147:Sybu UTSW 15 44,746,255 (GRCm38) missense probably damaging 1.00
R1147:Sybu UTSW 15 44,746,255 (GRCm38) missense probably damaging 1.00
R1307:Sybu UTSW 15 44,675,390 (GRCm38) missense probably damaging 1.00
R1568:Sybu UTSW 15 44,718,832 (GRCm38) nonsense probably null
R2112:Sybu UTSW 15 44,673,335 (GRCm38) missense probably benign 0.06
R2967:Sybu UTSW 15 44,746,356 (GRCm38) missense probably damaging 1.00
R3120:Sybu UTSW 15 44,672,959 (GRCm38) missense possibly damaging 0.88
R3429:Sybu UTSW 15 44,746,458 (GRCm38) missense probably damaging 0.98
R3508:Sybu UTSW 15 44,673,082 (GRCm38) missense probably damaging 1.00
R4080:Sybu UTSW 15 44,718,943 (GRCm38) missense probably damaging 1.00
R4898:Sybu UTSW 15 44,675,499 (GRCm38) missense probably benign 0.02
R4975:Sybu UTSW 15 44,677,667 (GRCm38) missense probably damaging 1.00
R5066:Sybu UTSW 15 44,677,644 (GRCm38) missense probably damaging 1.00
R5783:Sybu UTSW 15 44,746,414 (GRCm38) missense probably damaging 0.96
R5913:Sybu UTSW 15 44,787,621 (GRCm38) missense probably damaging 1.00
R6977:Sybu UTSW 15 44,677,695 (GRCm38) missense probably benign 0.00
R7044:Sybu UTSW 15 44,677,695 (GRCm38) missense possibly damaging 0.79
R7139:Sybu UTSW 15 44,677,714 (GRCm38) missense possibly damaging 0.93
R7328:Sybu UTSW 15 44,787,794 (GRCm38) missense not run
R7543:Sybu UTSW 15 44,683,452 (GRCm38) critical splice acceptor site probably null
R7851:Sybu UTSW 15 44,746,456 (GRCm38) nonsense probably null
R7909:Sybu UTSW 15 44,673,037 (GRCm38) nonsense probably null
R8823:Sybu UTSW 15 44,677,602 (GRCm38) missense possibly damaging 0.91
R9326:Sybu UTSW 15 44,673,623 (GRCm38) missense probably damaging 1.00
Z1177:Sybu UTSW 15 44,673,062 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGGCTTCAACTGACTATAGTGC -3'
(R):5'- AGCTAGATTTTGCAGCCTACAC -3'

Sequencing Primer
(F):5'- GGCTTCAACTGACTATAGTGCAAATC -3'
(R):5'- GCTAGATTTTGCAGCCTACACAGAAG -3'
Posted On 2015-01-23