Incidental Mutation 'IGL03185:Stoml2'
ID412444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stoml2
Ensembl Gene ENSMUSG00000028455
Gene Namestomatin (Epb7.2)-like 2
Synonyms0610038F01Rik, SLP-2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.690) question?
Stock #IGL03185
Quality Score
Status
Chromosome4
Chromosomal Location43027690-43031710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43029065 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 269 (N269S)
Ref Sequence ENSEMBL: ENSMUSP00000030169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030169] [ENSMUST00000036462] [ENSMUST00000067481] [ENSMUST00000098109] [ENSMUST00000107956] [ENSMUST00000107957] [ENSMUST00000107958] [ENSMUST00000107959] [ENSMUST00000136326] [ENSMUST00000135067] [ENSMUST00000138030]
Predicted Effect probably benign
Transcript: ENSMUST00000030169
AA Change: N269S

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455
AA Change: N269S

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PHB 36 194 1.47e-57 SMART
coiled coil region 231 252 N/A INTRINSIC
Pfam:Band_7_C 259 321 2.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036462
SMART Domains Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 479 537 8.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067481
SMART Domains Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 173 300 7.3e-17 PFAM
low complexity region 308 321 N/A INTRINSIC
low complexity region 323 336 N/A INTRINSIC
low complexity region 349 360 N/A INTRINSIC
low complexity region 417 428 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
transmembrane domain 477 499 N/A INTRINSIC
transmembrane domain 509 528 N/A INTRINSIC
low complexity region 539 559 N/A INTRINSIC
transmembrane domain 669 688 N/A INTRINSIC
transmembrane domain 703 722 N/A INTRINSIC
transmembrane domain 743 765 N/A INTRINSIC
transmembrane domain 829 851 N/A INTRINSIC
transmembrane domain 858 880 N/A INTRINSIC
transmembrane domain 921 940 N/A INTRINSIC
low complexity region 955 979 N/A INTRINSIC
transmembrane domain 992 1014 N/A INTRINSIC
transmembrane domain 1029 1051 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098109
SMART Domains Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Phosphodiest 129 304 6.5e-18 PFAM
low complexity region 316 329 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
low complexity region 357 368 N/A INTRINSIC
low complexity region 425 436 N/A INTRINSIC
transmembrane domain 456 478 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 517 536 N/A INTRINSIC
low complexity region 547 567 N/A INTRINSIC
transmembrane domain 677 696 N/A INTRINSIC
transmembrane domain 711 730 N/A INTRINSIC
transmembrane domain 751 773 N/A INTRINSIC
transmembrane domain 837 859 N/A INTRINSIC
transmembrane domain 866 888 N/A INTRINSIC
transmembrane domain 953 972 N/A INTRINSIC
low complexity region 987 1011 N/A INTRINSIC
transmembrane domain 1024 1046 N/A INTRINSIC
transmembrane domain 1061 1083 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107956
SMART Domains Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 479 537 8.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107957
SMART Domains Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 479 537 8.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107958
SMART Domains Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 479 537 8.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107959
SMART Domains Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 327 345 N/A INTRINSIC
DUF4210 348 406 9.25e-30 SMART
Pfam:Chromosome_seg 480 537 8.1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127645
Predicted Effect probably benign
Transcript: ENSMUST00000136326
AA Change: N223S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455
AA Change: N223S

DomainStartEndE-ValueType
PHB 1 148 1.33e-37 SMART
coiled coil region 185 206 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000135660
AA Change: N227S
SMART Domains Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455
AA Change: N227S

DomainStartEndE-ValueType
PHB 2 153 4.16e-39 SMART
coiled coil region 189 210 N/A INTRINSIC
Pfam:Band_7_C 218 280 3.6e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180854
Predicted Effect probably benign
Transcript: ENSMUST00000149333
SMART Domains Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 123 299 2.7e-18 PFAM
low complexity region 311 324 N/A INTRINSIC
low complexity region 326 339 N/A INTRINSIC
low complexity region 352 363 N/A INTRINSIC
low complexity region 420 431 N/A INTRINSIC
low complexity region 450 460 N/A INTRINSIC
transmembrane domain 531 550 N/A INTRINSIC
low complexity region 565 589 N/A INTRINSIC
transmembrane domain 602 624 N/A INTRINSIC
transmembrane domain 639 661 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135067
SMART Domains Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002

DomainStartEndE-ValueType
low complexity region 100 112 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138030
SMART Domains Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PHB 42 200 1.47e-57 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a floxed allele activated in T cells exhibit normal mitochondria migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,347,905 D77G probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Babam2 T C 5: 31,702,032 I27T possibly damaging Het
BC027072 A T 17: 71,749,337 I1115K probably damaging Het
Ccdc150 A G 1: 54,300,323 E442G probably damaging Het
Ccdc92 A G 5: 124,835,950 Y172H probably damaging Het
Chl1 T A 6: 103,665,863 D187E probably damaging Het
Col6a4 A T 9: 106,019,454 F1721I probably damaging Het
Corin C T 5: 72,332,781 G542D probably damaging Het
Dennd1c C T 17: 57,066,803 D587N probably benign Het
Dnah10 A G 5: 124,817,643 Y3424C probably damaging Het
Echdc1 T A 10: 29,331,840 F127I possibly damaging Het
F13b T A 1: 139,516,386 V486E probably benign Het
Fkbp15 C T 4: 62,332,186 probably null Het
Glt8d2 T A 10: 82,662,276 I100F probably damaging Het
Gm15448 A G 7: 3,823,230 Y255H probably damaging Het
Gmip C T 8: 69,809,783 P10L probably benign Het
Grm7 T C 6: 110,646,222 S119P possibly damaging Het
Kdelc1 G A 1: 44,117,199 S76L probably benign Het
Klf4 T C 4: 55,530,911 T58A possibly damaging Het
Mink1 T C 11: 70,603,860 I289T probably damaging Het
Mptx2 A T 1: 173,274,789 V111D possibly damaging Het
Muc5b A T 7: 141,862,822 E3168D possibly damaging Het
Mylk3 C A 8: 85,327,204 V695F probably damaging Het
Olfr736 C A 14: 50,393,398 T214K probably damaging Het
Olfr836 T A 9: 19,121,738 V258E probably damaging Het
Pprc1 C A 19: 46,069,747 probably benign Het
Prkaa2 C T 4: 105,039,721 probably null Het
Prss50 A G 9: 110,858,211 Y74C probably benign Het
Rnf145 T C 11: 44,531,330 L80P probably damaging Het
Serpinb3b T C 1: 107,156,932 I120V probably benign Het
Sgca T C 11: 94,970,784 M212V probably benign Het
Slc1a6 T A 10: 78,801,907 D422E probably damaging Het
Slc30a9 A G 5: 67,333,063 R226G probably benign Het
Slc5a11 A G 7: 123,265,189 D336G possibly damaging Het
Slfn8 T C 11: 83,017,507 H70R probably benign Het
Synrg A G 11: 83,981,479 E142G probably damaging Het
Thbs2 G A 17: 14,681,410 Q436* probably null Het
Tyk2 T C 9: 21,109,384 N917S probably damaging Het
Zfhx4 C A 3: 5,403,914 T3069K probably benign Het
Zfp446 G T 7: 12,978,998 V88F probably null Het
Zp3 A G 5: 135,982,721 N131S possibly damaging Het
Other mutations in Stoml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Stoml2 APN 4 43029366 unclassified probably benign
IGL02498:Stoml2 APN 4 43031045 missense probably benign 0.01
R0329:Stoml2 UTSW 4 43030238 critical splice donor site probably null
R0330:Stoml2 UTSW 4 43030238 critical splice donor site probably null
R1344:Stoml2 UTSW 4 43028197 missense probably benign 0.00
R2202:Stoml2 UTSW 4 43030243 nonsense probably null
R2203:Stoml2 UTSW 4 43030243 nonsense probably null
R2204:Stoml2 UTSW 4 43030243 nonsense probably null
R2205:Stoml2 UTSW 4 43030243 nonsense probably null
R4804:Stoml2 UTSW 4 43029882 missense probably benign 0.01
R4952:Stoml2 UTSW 4 43029589 missense probably benign 0.02
R5837:Stoml2 UTSW 4 43028989 missense probably damaging 1.00
R5845:Stoml2 UTSW 4 43030008 unclassified probably benign
R5882:Stoml2 UTSW 4 43031003 missense probably damaging 1.00
Posted On2016-08-02