Incidental Mutation 'IGL02199:Stoml2'
ID 284239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stoml2
Ensembl Gene ENSMUSG00000028455
Gene Name stomatin (Epb7.2)-like 2
Synonyms SLP-2, 0610038F01Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # IGL02199
Quality Score
Status
Chromosome 4
Chromosomal Location 43027690-43031402 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 43029366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000030169] [ENSMUST00000036462] [ENSMUST00000067481] [ENSMUST00000098109] [ENSMUST00000107956] [ENSMUST00000107957] [ENSMUST00000136326] [ENSMUST00000135067] [ENSMUST00000107958] [ENSMUST00000107959] [ENSMUST00000138030]
AlphaFold Q99JB2
Predicted Effect probably benign
Transcript: ENSMUST00000030169
SMART Domains Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455

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 noncoding transcript
Transcript: ENSMUST00000125180
Predicted Effect probably benign
Transcript: ENSMUST00000136326
SMART Domains Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455

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

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: ENSMUST00000123465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126026
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: 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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143371
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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aspg T C 12: 112,087,426 (GRCm39) V294A probably benign Het
Brms1l A G 12: 55,907,957 (GRCm39) probably benign Het
Celf5 T A 10: 81,318,318 (GRCm39) D41V possibly damaging Het
Clcn3 T A 8: 61,386,126 (GRCm39) K282* probably null Het
Clcn3 T A 8: 61,380,308 (GRCm39) T543S possibly damaging Het
Ctsj T A 13: 61,150,351 (GRCm39) N216I probably damaging Het
Dusp28 A G 1: 92,835,280 (GRCm39) probably benign Het
Fbp1 A G 13: 63,015,193 (GRCm39) I262T probably damaging Het
Gata4 A G 14: 63,437,912 (GRCm39) V413A possibly damaging Het
Glb1 A G 9: 114,303,015 (GRCm39) N617S probably benign Het
Gm454 T A 5: 138,202,285 (GRCm39) noncoding transcript Het
Hesx1 A G 14: 26,723,481 (GRCm39) S104G probably benign Het
Igf2bp3 T C 6: 49,065,458 (GRCm39) N478S probably benign Het
Klrk1 T C 6: 129,598,207 (GRCm39) probably null Het
Lamb2 A G 9: 108,357,824 (GRCm39) T116A possibly damaging Het
Mbd2 T C 18: 70,726,371 (GRCm39) V270A probably damaging Het
Meis2 C T 2: 115,830,737 (GRCm39) V259I probably benign Het
Mtcl2 A T 2: 156,872,865 (GRCm39) L882Q probably damaging Het
Ngly1 T A 14: 16,290,844 (GRCm38) I442K probably damaging Het
Nrxn1 A G 17: 90,344,686 (GRCm39) L409P probably damaging Het
Otog G A 7: 45,926,775 (GRCm39) V1175I possibly damaging Het
Parp12 C T 6: 39,073,524 (GRCm39) A434T probably benign Het
Prrt3 G A 6: 113,471,770 (GRCm39) P801S probably damaging Het
Rps6ka2 G T 17: 7,521,852 (GRCm39) probably benign Het
Slc18a1 C A 8: 69,496,632 (GRCm39) V344L probably benign Het
Spg11 T A 2: 121,890,034 (GRCm39) T2103S probably damaging Het
Tshr T G 12: 91,505,057 (GRCm39) L73R probably damaging Het
Ylpm1 C T 12: 85,080,779 (GRCm39) Q786* probably null Het
Other mutations in Stoml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02498:Stoml2 APN 4 43,031,045 (GRCm39) missense probably benign 0.01
IGL03185:Stoml2 APN 4 43,029,065 (GRCm39) missense probably benign 0.13
R0329:Stoml2 UTSW 4 43,030,238 (GRCm39) critical splice donor site probably null
R0330:Stoml2 UTSW 4 43,030,238 (GRCm39) critical splice donor site probably null
R1344:Stoml2 UTSW 4 43,028,197 (GRCm39) missense probably benign 0.00
R2202:Stoml2 UTSW 4 43,030,243 (GRCm39) nonsense probably null
R2203:Stoml2 UTSW 4 43,030,243 (GRCm39) nonsense probably null
R2204:Stoml2 UTSW 4 43,030,243 (GRCm39) nonsense probably null
R2205:Stoml2 UTSW 4 43,030,243 (GRCm39) nonsense probably null
R4804:Stoml2 UTSW 4 43,029,882 (GRCm39) missense probably benign 0.01
R4952:Stoml2 UTSW 4 43,029,589 (GRCm39) missense probably benign 0.02
R5837:Stoml2 UTSW 4 43,028,989 (GRCm39) missense probably damaging 1.00
R5845:Stoml2 UTSW 4 43,030,008 (GRCm39) unclassified probably benign
R5882:Stoml2 UTSW 4 43,031,003 (GRCm39) missense probably damaging 1.00
R8867:Stoml2 UTSW 4 43,028,256 (GRCm39) missense probably benign
R9444:Stoml2 UTSW 4 43,030,442 (GRCm39) missense probably damaging 1.00
R9582:Stoml2 UTSW 4 43,030,238 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16