Incidental Mutation 'IGL02236:Smap2'
ID285877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smap2
Ensembl Gene ENSMUSG00000032870
Gene Namesmall ArfGAP 2
SynonymsSmap2, 1810031K02Rik, Smap1l
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02236
Quality Score
Status
Chromosome4
Chromosomal Location120968317-121017247 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120975390 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 185 (M185L)
Ref Sequence ENSEMBL: ENSMUSP00000035800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043200]
Predicted Effect probably benign
Transcript: ENSMUST00000043200
AA Change: M185L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035800
Gene: ENSMUSG00000032870
AA Change: M185L

DomainStartEndE-ValueType
ArfGap 13 131 2.06e-44 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 274 293 N/A INTRINSIC
low complexity region 309 320 N/A INTRINSIC
low complexity region 331 342 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199525
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with globozoospermia, asthenozoospermia and abnormal acrosome formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,217,284 L529P probably damaging Het
Bdp1 A T 13: 100,060,891 D995E probably benign Het
Cd22 T C 7: 30,867,468 N607S possibly damaging Het
Ddx10 T A 9: 53,235,382 D180V probably damaging Het
Dennd4c T C 4: 86,807,435 Y709H possibly damaging Het
Dhrs3 A C 4: 144,893,563 I17L probably benign Het
Dnah8 A T 17: 30,649,773 K394* probably null Het
Flnc T A 6: 29,454,376 I1896N probably damaging Het
Glipr1l2 A G 10: 112,092,629 Y143C probably damaging Het
Lmo7 T C 14: 101,926,088 probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mast3 A G 8: 70,789,244 S98P probably benign Het
Myf5 A G 10: 107,484,190 S200P possibly damaging Het
Olfr582 T G 7: 103,041,721 S76A possibly damaging Het
Pramef8 G A 4: 143,416,942 V93I probably benign Het
Recql5 A C 11: 115,894,030 S824A probably benign Het
Reg2 A G 6: 78,406,205 E45G probably damaging Het
Rergl T C 6: 139,494,920 D77G probably benign Het
Rnf224 T C 2: 25,236,248 D31G probably damaging Het
Sema4c C T 1: 36,553,085 S227N probably damaging Het
Sgsm2 C T 11: 74,859,872 G439D probably damaging Het
Spty2d1 A G 7: 46,997,612 V523A probably benign Het
Stk17b C A 1: 53,764,088 R184L probably damaging Het
Syt13 A G 2: 92,940,865 D99G probably damaging Het
Trav14-1 T A 14: 53,554,306 S38T possibly damaging Het
Ttn T C 2: 76,870,468 probably benign Het
Usp17la G A 7: 104,861,146 W319* probably null Het
Vmn2r73 T C 7: 85,872,694 T146A probably benign Het
Vwa3b C T 1: 37,154,051 probably benign Het
Zfp13 A T 17: 23,580,765 probably benign Het
Zscan18 A C 7: 12,769,324 D769E probably benign Het
Other mutations in Smap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Smap2 APN 4 120973198 missense probably damaging 0.99
IGL01727:Smap2 APN 4 120982208 splice site probably benign
twizzler UTSW 4 120985311 missense probably damaging 1.00
R0564:Smap2 UTSW 4 120976977 missense probably benign 0.03
R4567:Smap2 UTSW 4 120985311 missense probably damaging 1.00
R5132:Smap2 UTSW 4 120973173 missense possibly damaging 0.79
R5198:Smap2 UTSW 4 121016787 missense possibly damaging 0.89
R6469:Smap2 UTSW 4 120973085 critical splice donor site probably benign
R6470:Smap2 UTSW 4 120973085 critical splice donor site probably benign
R6472:Smap2 UTSW 4 120973085 critical splice donor site probably benign
R6504:Smap2 UTSW 4 120973085 critical splice donor site probably benign
R6516:Smap2 UTSW 4 120983106 critical splice donor site probably null
R7013:Smap2 UTSW 4 120982168 missense probably damaging 1.00
R7270:Smap2 UTSW 4 120972067 missense probably benign 0.00
R7634:Smap2 UTSW 4 121016799 missense probably benign
Posted On2015-04-16