Incidental Mutation 'IGL01951:Stx2'
ID181028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx2
Ensembl Gene ENSMUSG00000029428
Gene Namesyntaxin 2
Synonymsrepro34, G1-536-1, Syn-2, Epim
Accession Numbers

Ncbi RefSeq: NM_007941.2; MGI:108059

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01951
Quality Score
Status
Chromosome5
Chromosomal Location128984557-129008574 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 128992265 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 127 (F127L)
Ref Sequence ENSEMBL: ENSMUSP00000098247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031378] [ENSMUST00000100680] [ENSMUST00000149877] [ENSMUST00000195906]
Predicted Effect probably damaging
Transcript: ENSMUST00000031378
AA Change: F127L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031378
Gene: ENSMUSG00000029428
AA Change: F127L

DomainStartEndE-ValueType
SynN 25 146 1.33e-40 SMART
low complexity region 159 170 N/A INTRINSIC
low complexity region 175 185 N/A INTRINSIC
t_SNARE 187 254 1.74e-19 SMART
transmembrane domain 266 288 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100680
AA Change: F127L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098247
Gene: ENSMUSG00000029428
AA Change: F127L

DomainStartEndE-ValueType
SynN 25 146 1.33e-40 SMART
low complexity region 159 170 N/A INTRINSIC
low complexity region 175 185 N/A INTRINSIC
t_SNARE 187 254 1.74e-19 SMART
transmembrane domain 265 287 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144846
Predicted Effect probably benign
Transcript: ENSMUST00000149877
SMART Domains Protein: ENSMUSP00000118220
Gene: ENSMUSG00000029428

DomainStartEndE-ValueType
Pfam:Syntaxin 1 85 1.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151712
Predicted Effect probably benign
Transcript: ENSMUST00000195906
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3526405
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display male infertility associated with abnormal testicular development and impaired spermatogenesis, increased intestinal growth due to enhanced crypt cell proliferation and crypt fission, and decreased susceptibility to induced colitis. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted(4) Gene trapped(5) Chemically induced(1)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,235,668 I152T probably damaging Het
A2m C T 6: 121,667,190 T949I possibly damaging Het
Begain T A 12: 109,033,645 Y605F probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin2 A G 1: 51,289,411 E9G possibly damaging Het
Cdh16 A G 8: 104,617,691 V72A probably damaging Het
Dgkd T C 1: 87,916,916 L268P probably damaging Het
Eps8 T A 6: 137,537,671 Y28F possibly damaging Het
Erap1 T C 13: 74,675,295 I816T probably damaging Het
Fli1 A T 9: 32,461,364 F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21957 A T 7: 125,219,832 noncoding transcript Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm9833 G A 3: 10,089,058 V296M probably damaging Het
Hectd1 T A 12: 51,794,497 R618* probably null Het
Homez T C 14: 54,858,176 E25G probably damaging Het
Ifngr1 C A 10: 19,609,454 N400K possibly damaging Het
Lin7a G A 10: 107,412,025 V186I possibly damaging Het
Lpcat2 G T 8: 92,918,047 S448I probably damaging Het
Lrp10 C A 14: 54,468,662 Y436* probably null Het
Myo1f A G 17: 33,598,017 H707R possibly damaging Het
Neurl4 A G 11: 69,909,623 N1147D probably damaging Het
Olfr1272 G T 2: 90,282,007 D189E probably damaging Het
Olfr1414 T C 1: 92,511,131 D299G probably null Het
Pak6 T C 2: 118,693,260 S299P probably benign Het
Panx2 A G 15: 89,068,767 D487G probably damaging Het
Sbspon T C 1: 15,858,934 N211S probably benign Het
Sgsm1 T A 5: 113,286,767 probably benign Het
Slc38a4 T C 15: 97,019,763 Y27C probably benign Het
Sorbs1 A G 19: 40,318,016 probably benign Het
Ssh1 A T 5: 113,966,247 Y35N possibly damaging Het
Synm A T 7: 67,739,137 I325N probably damaging Het
Szt2 A G 4: 118,376,493 probably benign Het
Tbc1d23 A G 16: 57,186,685 probably benign Het
Tmem50a T C 4: 134,898,428 probably benign Het
Tpx2 T G 2: 152,884,176 L354V probably benign Het
Trafd1 G A 5: 121,374,031 R399C possibly damaging Het
Trem3 C T 17: 48,249,875 R125W probably damaging Het
Ubp1 T A 9: 113,951,618 Y92* probably null Het
Wnk1 T A 6: 119,963,485 T62S probably damaging Het
Zbtb6 T C 2: 37,429,331 E195G probably benign Het
Zc3h15 A G 2: 83,661,485 D306G probably damaging Het
Other mutations in Stx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Stx2 APN 5 128990978 missense probably benign 0.01
IGL02348:Stx2 APN 5 128988830 missense probably damaging 1.00
IGL02902:Stx2 APN 5 128992221 missense probably damaging 1.00
R0050:Stx2 UTSW 5 128999508 critical splice donor site probably null
R0050:Stx2 UTSW 5 128999508 critical splice donor site probably null
R0277:Stx2 UTSW 5 128988903 missense probably benign 0.00
R0323:Stx2 UTSW 5 128988903 missense probably benign 0.00
R0419:Stx2 UTSW 5 128993577 splice site probably benign
R0843:Stx2 UTSW 5 128999548 missense probably damaging 1.00
R1346:Stx2 UTSW 5 128988788 unclassified probably benign
R1631:Stx2 UTSW 5 128992225 missense probably damaging 1.00
R1920:Stx2 UTSW 5 128988839 missense probably damaging 1.00
R5350:Stx2 UTSW 5 128991091 missense probably damaging 1.00
R6877:Stx2 UTSW 5 128987820 missense probably benign 0.00
R7379:Stx2 UTSW 5 128987799 missense possibly damaging 0.68
R7391:Stx2 UTSW 5 128988803 missense probably damaging 1.00
R7747:Stx2 UTSW 5 128986417 missense probably benign 0.39
R7803:Stx2 UTSW 5 128993563 nonsense probably null
Posted On2014-05-07