Incidental Mutation 'IGL02679:Tcn2'
ID303309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcn2
Ensembl Gene ENSMUSG00000020432
Gene Nametranscobalamin 2
SynonymsTcn-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02679
Quality Score
Status
Chromosome11
Chromosomal Location3917192-3932159 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3927504 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 48 (E48G)
Ref Sequence ENSEMBL: ENSMUSP00000105620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020710] [ENSMUST00000109988] [ENSMUST00000109989] [ENSMUST00000109990] [ENSMUST00000109991] [ENSMUST00000109992] [ENSMUST00000109993]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020710
AA Change: E48G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: E48G

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109988
AA Change: E48G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: E48G

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109989
AA Change: E48G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: E48G

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109990
AA Change: E48G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: E48G

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109991
AA Change: E48G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: E48G

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 3 331 1.2e-118 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 429 9.3e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109992
AA Change: E48G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: E48G

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109993
AA Change: E48G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: E48G

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,182,979 probably benign Het
Adam5 A T 8: 24,806,526 Y302N probably damaging Het
Ankrd34c A T 9: 89,730,079 Y70N probably damaging Het
Asph G A 4: 9,601,349 P190S possibly damaging Het
Atp6v1h T C 1: 5,124,302 C235R probably damaging Het
Brwd1 A G 16: 96,002,823 L2049P probably benign Het
Capn2 T A 1: 182,472,584 I614F probably benign Het
Ccdc126 T A 6: 49,334,061 M1K probably null Het
Cdh9 T C 15: 16,832,230 I401T probably damaging Het
Cep57l1 T C 10: 41,729,386 E121G probably damaging Het
Cfap46 A G 7: 139,614,470 I2276T probably damaging Het
Cnnm3 T C 1: 36,520,158 S490P probably benign Het
D430041D05Rik C T 2: 104,230,305 V731I possibly damaging Het
Fgf3 C A 7: 144,840,750 N100K probably damaging Het
Gas7 G A 11: 67,675,727 probably null Het
Gfm1 C T 3: 67,474,767 P725S possibly damaging Het
Gimap4 T A 6: 48,690,495 C61* probably null Het
Greb1 C T 12: 16,708,723 R664Q probably damaging Het
Kpnb1 T A 11: 97,177,260 I295F possibly damaging Het
Lamc3 A G 2: 31,945,398 E1577G probably benign Het
Lrrk1 C T 7: 66,274,872 V235M probably damaging Het
Mipol1 T A 12: 57,306,043 V56E possibly damaging Het
Mycbp2 T C 14: 103,205,185 I1927V probably benign Het
Ncaph A T 2: 127,124,864 N223K possibly damaging Het
Nipbl A G 15: 8,295,553 M2542T probably benign Het
Nolc1 C A 19: 46,083,029 probably benign Het
Olfr16 G A 1: 172,957,176 C127Y probably damaging Het
Olfr555 A G 7: 102,659,177 M119V possibly damaging Het
Pkhd1l1 T C 15: 44,530,045 probably null Het
Ppat A T 5: 76,919,469 C306S probably benign Het
Ptpn13 A T 5: 103,569,454 M1821L possibly damaging Het
Rabl3 C T 16: 37,541,925 S42L probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfx3 G A 19: 27,849,737 H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 M312V possibly damaging Het
Slc10a2 T A 8: 5,098,499 T149S probably damaging Het
Spata21 T C 4: 141,111,265 probably benign Het
Stx8 G T 11: 67,969,772 W6C probably damaging Het
Tctex1d2 T C 16: 32,425,307 V107A possibly damaging Het
Tecpr1 A T 5: 144,206,546 N670K probably benign Het
Tldc1 A T 8: 119,772,410 D114E probably benign Het
Tmem255b G A 8: 13,457,055 M240I probably benign Het
Ubr4 G A 4: 139,459,134 E651K probably damaging Het
Ubr5 T C 15: 38,002,314 T1498A probably benign Het
Vmn2r95 G A 17: 18,443,854 C445Y probably damaging Het
Zfp429 T A 13: 67,399,736 probably benign Het
Zfp804b T G 5: 6,771,392 D557A possibly damaging Het
Other mutations in Tcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Tcn2 APN 11 3925072 missense probably benign
IGL02311:Tcn2 APN 11 3917692 missense probably damaging 1.00
IGL02614:Tcn2 APN 11 3926158 missense possibly damaging 0.91
IGL02655:Tcn2 APN 11 3926158 missense possibly damaging 0.91
IGL02752:Tcn2 APN 11 3926158 missense possibly damaging 0.91
R0265:Tcn2 UTSW 11 3922044 missense probably damaging 1.00
R0845:Tcn2 UTSW 11 3919349 missense probably benign
R1255:Tcn2 UTSW 11 3922120 missense probably benign 0.16
R1459:Tcn2 UTSW 11 3927516 missense probably benign 0.01
R1696:Tcn2 UTSW 11 3922169 missense probably damaging 1.00
R4209:Tcn2 UTSW 11 3922114 missense possibly damaging 0.91
R4210:Tcn2 UTSW 11 3922114 missense possibly damaging 0.91
R4211:Tcn2 UTSW 11 3922114 missense possibly damaging 0.91
R5357:Tcn2 UTSW 11 3926017 missense possibly damaging 0.91
R5973:Tcn2 UTSW 11 3927546 nonsense probably null
R6973:Tcn2 UTSW 11 3917649 makesense probably null
R7479:Tcn2 UTSW 11 3917703 missense probably damaging 1.00
R8023:Tcn2 UTSW 11 3927579 missense possibly damaging 0.95
T0975:Tcn2 UTSW 11 3923487 missense possibly damaging 0.79
Posted On2015-04-16