Incidental Mutation 'R4898:Sybu'
ID 375962
Institutional Source Beutler Lab
Gene Symbol Sybu
Ensembl Gene ENSMUSG00000022340
Gene Name syntabulin (syntaxin-interacting)
Synonyms 5730410E15Rik, A830027B17Rik, Golsyn/Syntabulin
MMRRC Submission 042502-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.426) question?
Stock # R4898 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 44535252-44651459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44538895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 383 (M383L)
Ref Sequence ENSEMBL: ENSMUSP00000087511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090057] [ENSMUST00000110267] [ENSMUST00000110269] [ENSMUST00000226214] [ENSMUST00000227305] [ENSMUST00000228057]
AlphaFold Q8BHS8
Predicted Effect probably benign
Transcript: ENSMUST00000090057
AA Change: M383L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: M383L

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 probably benign
Transcript: ENSMUST00000110267
AA Change: M255L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: M255L

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 probably benign
Transcript: ENSMUST00000110269
AA Change: M183L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: M183L

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 probably benign
Transcript: ENSMUST00000227305
AA Change: M254L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000228057
AA Change: M255L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency
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: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,639,111 (GRCm39) Y944C probably damaging Het
Acacb T C 5: 114,370,999 (GRCm39) V1747A probably benign Het
Acad8 C T 9: 26,889,698 (GRCm39) R332H probably damaging Het
Acrbp A C 6: 125,027,501 (GRCm39) T50P probably damaging Het
Ahctf1 G T 1: 179,583,077 (GRCm39) N1500K probably benign Het
Aoc1l3 A G 6: 48,964,651 (GRCm39) T220A possibly damaging Het
Arfgef1 A G 1: 10,229,798 (GRCm39) I1301T possibly damaging Het
Arhgef15 T C 11: 68,842,171 (GRCm39) S478G probably benign Het
Armh1 T C 4: 117,094,977 (GRCm39) D21G probably damaging Het
Atp13a4 A T 16: 29,227,779 (GRCm39) L1045* probably null Het
Atp2a3 T A 11: 72,873,506 (GRCm39) L793H probably damaging Het
B4galnt4 C A 7: 140,648,173 (GRCm39) P563Q probably benign Het
Bcl2a1b A T 9: 89,081,713 (GRCm39) K94* probably null Het
Bod1 T A 11: 31,616,853 (GRCm39) Q136L possibly damaging Het
C2cd3 A G 7: 100,055,166 (GRCm39) K443R probably damaging Het
Cadps A G 14: 12,411,588 (GRCm38) V1250A possibly damaging Het
Car12 T A 9: 66,671,600 (GRCm39) Y332* probably null Het
Ccdc186 A T 19: 56,790,432 (GRCm39) probably null Het
Cdh6 T C 15: 13,034,774 (GRCm39) T629A probably damaging Het
Cep112 T A 11: 108,397,471 (GRCm39) D353E probably damaging Het
Cep152 T C 2: 125,428,301 (GRCm39) S777G probably benign Het
Clec4b2 A C 6: 123,181,163 (GRCm39) K183Q probably benign Het
Cngb3 T C 4: 19,395,926 (GRCm39) Y323H probably benign Het
Cnp G T 11: 100,467,202 (GRCm39) E48D probably benign Het
Ctrb1 T A 8: 112,413,783 (GRCm39) I194F probably benign Het
Cyp2d11 T A 15: 82,275,224 (GRCm39) D241V probably benign Het
D5Ertd579e T A 5: 36,772,285 (GRCm39) E703D probably damaging Het
Dlg1 T C 16: 31,676,764 (GRCm39) V731A probably damaging Het
Dlgap5 T C 14: 47,651,276 (GRCm39) S86G probably benign Het
Dock3 A G 9: 106,807,266 (GRCm39) F1354L probably damaging Het
Dock3 C A 9: 106,870,171 (GRCm39) V638F possibly damaging Het
Eif3c A T 7: 126,156,626 (GRCm39) M407K probably benign Het
Eif4a3l1 A T 6: 136,305,737 (GRCm39) Q66L possibly damaging Het
Epha4 T A 1: 77,366,712 (GRCm39) K578* probably null Het
Erc2 C T 14: 27,375,285 (GRCm39) L168F probably damaging Het
Esyt2 A G 12: 116,305,708 (GRCm39) I313V probably benign Het
Far1 T A 7: 113,167,432 (GRCm39) Y506N probably damaging Het
Fbxw26 T A 9: 109,547,037 (GRCm39) N463Y possibly damaging Het
Fgg A G 3: 82,915,847 (GRCm39) D96G probably benign Het
Gfer A G 17: 24,914,274 (GRCm39) S130P probably damaging Het
Hdac10 A T 15: 89,012,650 (GRCm39) M1K probably null Het
Hsd3b1 A T 3: 98,760,642 (GRCm39) S110R probably benign Het
Ints15 A G 5: 143,287,592 (GRCm39) S438P probably benign Het
Itga6 T C 2: 71,668,717 (GRCm39) L552P possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lrrc8a A G 2: 30,147,214 (GRCm39) K676R probably benign Het
Lrrc8b A T 5: 105,628,080 (GRCm39) Y142F probably benign Het
Lyz2 T A 10: 117,114,614 (GRCm39) D105V possibly damaging Het
Mamdc4 T C 2: 25,460,035 (GRCm39) D76G probably damaging Het
Map7d1 T C 4: 126,127,018 (GRCm39) K731E unknown Het
Mgam A C 6: 40,619,988 (GRCm39) I26L probably benign Het
Mmp13 A T 9: 7,272,953 (GRCm39) E104D probably benign Het
Morc2a C T 11: 3,626,664 (GRCm39) R241* probably null Het
Mtfmt C A 9: 65,359,386 (GRCm39) H354N probably benign Het
Myh3 T C 11: 66,990,233 (GRCm39) I1626T probably benign Het
Ndst1 A T 18: 60,825,059 (GRCm39) V753D probably benign Het
Neurl4 A G 11: 69,793,997 (GRCm39) D151G probably damaging Het
Nlrx1 T C 9: 44,168,194 (GRCm39) S568G probably benign Het
Or10g3b G C 14: 52,586,999 (GRCm39) P168R probably damaging Het
Or2t45 T C 11: 58,669,132 (GRCm39) Y60H possibly damaging Het
Or2t46 T G 11: 58,472,546 (GRCm39) L292R probably damaging Het
Or4c52 T C 2: 89,845,762 (GRCm39) F163L probably damaging Het
Or52s1 A G 7: 102,861,747 (GRCm39) I216V probably damaging Het
Or6c66 A T 10: 129,461,468 (GRCm39) I154N probably benign Het
Or8b42 A T 9: 38,342,111 (GRCm39) M178L probably benign Het
Osbpl7 A G 11: 96,950,976 (GRCm39) I608V probably damaging Het
Pard3b T C 1: 61,807,159 (GRCm39) I58T probably damaging Het
Pcare A G 17: 72,058,066 (GRCm39) M537T probably damaging Het
Pcdhga1 A C 18: 37,795,407 (GRCm39) E137A possibly damaging Het
Pde6c G A 19: 38,139,072 (GRCm39) V301I possibly damaging Het
Pdia5 G C 16: 35,230,786 (GRCm39) N338K possibly damaging Het
Pex11g T C 8: 3,514,042 (GRCm39) Y40C probably damaging Het
Plekhg3 A G 12: 76,610,899 (GRCm39) Y183C probably damaging Het
Pole A C 5: 110,438,090 (GRCm39) probably null Het
Ppfia1 A G 7: 144,045,313 (GRCm39) L948P probably damaging Het
Prdm2 A T 4: 142,860,761 (GRCm39) V843E probably damaging Het
Prss56 C A 1: 87,115,708 (GRCm39) F527L probably damaging Het
Psmd11 T C 11: 80,329,146 (GRCm39) L88P probably damaging Het
Ptx3 G C 3: 66,132,412 (GRCm39) G311A probably damaging Het
Rars1 A T 11: 35,699,385 (GRCm39) L636H probably damaging Het
Rnft2 A G 5: 118,375,507 (GRCm39) S81P probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxra T A 2: 27,631,195 (GRCm39) I142N probably damaging Het
Scin T C 12: 40,154,931 (GRCm39) M221V probably benign Het
Sfmbt2 G A 2: 10,584,069 (GRCm39) V809I possibly damaging Het
Sirt1 T A 10: 63,157,783 (GRCm39) I505F probably benign Het
Six5 T C 7: 18,829,096 (GRCm39) Y179H probably damaging Het
Slc12a4 A C 8: 106,671,241 (GRCm39) M982R probably damaging Het
Slco4c1 T A 1: 96,765,237 (GRCm39) L404F probably damaging Het
Smn1 T C 13: 100,268,931 (GRCm39) L259P probably damaging Het
Sorl1 T G 9: 41,952,935 (GRCm39) D702A probably damaging Het
Spta1 A G 1: 174,065,400 (GRCm39) E1983G possibly damaging Het
Srsf1 T A 11: 87,940,788 (GRCm39) probably null Het
Stard9 C T 2: 120,536,900 (GRCm39) R4224* probably null Het
Tbx15 A C 3: 99,259,583 (GRCm39) N485H possibly damaging Het
Tcerg1l A T 7: 137,819,786 (GRCm39) F485I probably damaging Het
Tdrd7 C A 4: 46,005,616 (GRCm39) T474N possibly damaging Het
Thada A T 17: 84,755,470 (GRCm39) probably null Het
Tnik A T 3: 28,704,235 (GRCm39) I1020F probably damaging Het
Tnxb A G 17: 34,914,566 (GRCm39) D1884G possibly damaging Het
Tprn T C 2: 25,158,845 (GRCm39) M623T probably damaging Het
Trdn T A 10: 33,350,413 (GRCm39) Y661N probably damaging Het
Ttc41 T C 10: 86,612,056 (GRCm39) S1110P possibly damaging Het
Ttc6 A C 12: 57,707,026 (GRCm39) R644S probably benign Het
Ttyh1 A T 7: 4,136,735 (GRCm39) M448L probably benign Het
Unc79 G T 12: 103,128,079 (GRCm39) C2250F probably damaging Het
Ush2a A G 1: 188,358,805 (GRCm39) I2110M probably benign Het
Uvssa G T 5: 33,571,257 (GRCm39) E634* probably null Het
Vac14 A C 8: 111,372,440 (GRCm39) T384P probably benign Het
Wdr11 A G 7: 129,235,445 (GRCm39) E1169G probably benign Het
Zfp36l1 T A 12: 80,157,298 (GRCm39) T28S probably benign Het
Zfp715 A T 7: 42,949,106 (GRCm39) Y285N possibly damaging Het
Zfp91 A T 19: 12,747,424 (GRCm39) D566E probably damaging Het
Zgrf1 G A 3: 127,396,085 (GRCm39) V544M probably damaging Het
Other mutations in Sybu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Sybu APN 15 44,536,201 (GRCm39) missense probably damaging 1.00
IGL02211:Sybu APN 15 44,536,862 (GRCm39) missense probably damaging 1.00
IGL02303:Sybu APN 15 44,536,619 (GRCm39) missense probably benign 0.03
E7848:Sybu UTSW 15 44,536,818 (GRCm39) missense probably benign 0.32
R0015:Sybu UTSW 15 44,536,896 (GRCm39) missense probably damaging 0.99
R0015:Sybu UTSW 15 44,536,896 (GRCm39) missense probably damaging 0.99
R0064:Sybu UTSW 15 44,536,389 (GRCm39) missense probably benign 0.00
R0064:Sybu UTSW 15 44,536,389 (GRCm39) missense probably benign 0.00
R0413:Sybu UTSW 15 44,536,668 (GRCm39) missense probably damaging 1.00
R0650:Sybu UTSW 15 44,536,664 (GRCm39) missense probably benign 0.08
R1147:Sybu UTSW 15 44,609,651 (GRCm39) missense probably damaging 1.00
R1147:Sybu UTSW 15 44,609,651 (GRCm39) missense probably damaging 1.00
R1307:Sybu UTSW 15 44,538,786 (GRCm39) missense probably damaging 1.00
R1568:Sybu UTSW 15 44,582,228 (GRCm39) nonsense probably null
R2112:Sybu UTSW 15 44,536,731 (GRCm39) missense probably benign 0.06
R2967:Sybu UTSW 15 44,609,752 (GRCm39) missense probably damaging 1.00
R3120:Sybu UTSW 15 44,536,355 (GRCm39) missense possibly damaging 0.88
R3429:Sybu UTSW 15 44,609,854 (GRCm39) missense probably damaging 0.98
R3508:Sybu UTSW 15 44,536,478 (GRCm39) missense probably damaging 1.00
R3720:Sybu UTSW 15 44,536,028 (GRCm39) missense possibly damaging 0.89
R4080:Sybu UTSW 15 44,582,339 (GRCm39) missense probably damaging 1.00
R4975:Sybu UTSW 15 44,541,063 (GRCm39) missense probably damaging 1.00
R5066:Sybu UTSW 15 44,541,040 (GRCm39) missense probably damaging 1.00
R5783:Sybu UTSW 15 44,609,810 (GRCm39) missense probably damaging 0.96
R5913:Sybu UTSW 15 44,651,017 (GRCm39) missense probably damaging 1.00
R6977:Sybu UTSW 15 44,541,091 (GRCm39) missense probably benign 0.00
R7044:Sybu UTSW 15 44,541,091 (GRCm39) missense possibly damaging 0.79
R7139:Sybu UTSW 15 44,541,110 (GRCm39) missense possibly damaging 0.93
R7328:Sybu UTSW 15 44,651,190 (GRCm39) missense not run
R7543:Sybu UTSW 15 44,546,848 (GRCm39) critical splice acceptor site probably null
R7851:Sybu UTSW 15 44,609,852 (GRCm39) nonsense probably null
R7909:Sybu UTSW 15 44,536,433 (GRCm39) nonsense probably null
R8823:Sybu UTSW 15 44,540,998 (GRCm39) missense possibly damaging 0.91
R9326:Sybu UTSW 15 44,537,019 (GRCm39) missense probably damaging 1.00
Z1177:Sybu UTSW 15 44,536,458 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AATTGTGCTAAGCCTCCTGGTG -3'
(R):5'- TTAATCCCCTCAGAAAAGCTCAATG -3'

Sequencing Primer
(F):5'- CTCCTGGTGTGGGGAATCC -3'
(R):5'- CCAGAGGGCTTAGGGTTCAATTCC -3'
Posted On 2016-03-17