Incidental Mutation 'IGL01407:Spem2'
ID79838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spem2
Ensembl Gene ENSMUSG00000044084
Gene NameSPEM family member 2
Synonyms4933402P03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01407
Quality Score
Status
Chromosome11
Chromosomal Location69816566-69818465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 69817239 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 300 (Y300F)
Ref Sequence ENSEMBL: ENSMUSP00000051204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056941] [ENSMUST00000210714]
Predicted Effect probably benign
Transcript: ENSMUST00000045771
SMART Domains Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

DomainStartEndE-ValueType
Pfam:Spem1 12 196 3.7e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056941
AA Change: Y300F

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084
AA Change: Y300F

DomainStartEndE-ValueType
Pfam:Spem1 1 261 2e-121 PFAM
low complexity region 281 294 N/A INTRINSIC
low complexity region 478 494 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210714
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,245,944 D1140V probably damaging Het
Ak1 G T 2: 32,633,495 probably benign Het
Ano1 A T 7: 144,637,111 L411H probably benign Het
Atad2 A T 15: 58,104,525 N569K probably benign Het
Bst2 C A 8: 71,537,186 R81L probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Chrna5 C T 9: 55,004,399 T57M possibly damaging Het
Cp A T 3: 19,977,205 D602V possibly damaging Het
Drd2 T C 9: 49,400,815 I156T probably damaging Het
Elp4 G A 2: 105,792,308 R349W probably damaging Het
Eml6 G A 11: 29,755,021 R1508* probably null Het
Etl4 T C 2: 20,743,856 L335S probably damaging Het
Fat3 A T 9: 16,378,023 I68K probably benign Het
Fyco1 G T 9: 123,828,879 A744D probably damaging Het
Gm22165 G T 3: 64,105,465 probably benign Het
Gse1 T C 8: 120,553,587 M1T probably null Het
Hs3st5 A T 10: 36,833,408 H313L probably damaging Het
Hsd17b3 T C 13: 64,062,905 Y212C probably damaging Het
Hyal5 G T 6: 24,876,407 S93I probably benign Het
Itgb1 T C 8: 128,722,834 V578A probably benign Het
Klf12 A T 14: 100,109,858 N12K possibly damaging Het
Krt40 C T 11: 99,541,219 C222Y probably damaging Het
Lrrn2 T C 1: 132,937,227 L10P probably damaging Het
Lrsam1 T C 2: 32,947,903 Y213C probably damaging Het
Mitf C A 6: 98,017,931 T277K possibly damaging Het
Ncan C T 8: 70,101,957 R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 E578G probably benign Het
Patj A G 4: 98,413,050 T191A possibly damaging Het
Pign A G 1: 105,589,302 V533A probably benign Het
Smad5 G A 13: 56,735,817 V339I probably benign Het
Trank1 T G 9: 111,364,722 S605A probably damaging Het
Treml4 T A 17: 48,264,849 D93E possibly damaging Het
Tsc22d2 T A 3: 58,416,503 V272E probably damaging Het
Vmn2r19 T A 6: 123,329,867 F445I possibly damaging Het
Zfp712 T A 13: 67,042,166 Q99L possibly damaging Het
Zfp719 A T 7: 43,584,187 K10I probably benign Het
Other mutations in Spem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:Spem2 APN 11 69817263 unclassified probably null
IGL02315:Spem2 APN 11 69817365 missense probably damaging 0.98
IGL02325:Spem2 APN 11 69816963 missense probably benign 0.00
IGL02877:Spem2 APN 11 69817695 missense probably benign 0.16
R1476:Spem2 UTSW 11 69818070 missense probably benign 0.05
R1928:Spem2 UTSW 11 69817464 missense probably benign 0.03
R3741:Spem2 UTSW 11 69816730 missense possibly damaging 0.53
R3811:Spem2 UTSW 11 69817164 missense possibly damaging 0.72
R4271:Spem2 UTSW 11 69817425 missense probably damaging 0.98
R4717:Spem2 UTSW 11 69817783 missense probably benign 0.37
R4997:Spem2 UTSW 11 69817732 missense probably benign 0.06
R5114:Spem2 UTSW 11 69817147 missense probably benign 0.33
R6137:Spem2 UTSW 11 69816696 nonsense probably null
R6302:Spem2 UTSW 11 69818265 missense possibly damaging 0.71
R6454:Spem2 UTSW 11 69817428 missense probably damaging 0.97
R6923:Spem2 UTSW 11 69817777 missense probably damaging 0.99
R7000:Spem2 UTSW 11 69817756 missense probably benign
Posted On2013-11-05