Incidental Mutation 'IGL02679:Tcn2'
ID |
303309 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tcn2
|
Ensembl Gene |
ENSMUSG00000020432 |
Gene Name |
transcobalamin 2 |
Synonyms |
Tcn-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL02679
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
3867192-3882159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3877504 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
O88968 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930442H23Rik |
T |
A |
10: 81,018,813 (GRCm39) |
|
probably benign |
Het |
Adam5 |
A |
T |
8: 25,296,542 (GRCm39) |
Y302N |
probably damaging |
Het |
Ankrd34c |
A |
T |
9: 89,612,132 (GRCm39) |
Y70N |
probably damaging |
Het |
Asph |
G |
A |
4: 9,601,349 (GRCm39) |
P190S |
possibly damaging |
Het |
Atp6v1h |
T |
C |
1: 5,194,525 (GRCm39) |
C235R |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,804,023 (GRCm39) |
L2049P |
probably benign |
Het |
Capn2 |
T |
A |
1: 182,300,149 (GRCm39) |
I614F |
probably benign |
Het |
Ccdc126 |
T |
A |
6: 49,310,995 (GRCm39) |
M1K |
probably null |
Het |
Cdh9 |
T |
C |
15: 16,832,316 (GRCm39) |
I401T |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,605,382 (GRCm39) |
E121G |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,194,386 (GRCm39) |
I2276T |
probably damaging |
Het |
Cnnm3 |
T |
C |
1: 36,559,239 (GRCm39) |
S490P |
probably benign |
Het |
D430041D05Rik |
C |
T |
2: 104,060,650 (GRCm39) |
V731I |
possibly damaging |
Het |
Dynlt2b |
T |
C |
16: 32,244,125 (GRCm39) |
V107A |
possibly damaging |
Het |
Fgf3 |
C |
A |
7: 144,394,487 (GRCm39) |
N100K |
probably damaging |
Het |
Gas7 |
G |
A |
11: 67,566,553 (GRCm39) |
|
probably null |
Het |
Gfm1 |
C |
T |
3: 67,382,100 (GRCm39) |
P725S |
possibly damaging |
Het |
Gimap4 |
T |
A |
6: 48,667,429 (GRCm39) |
C61* |
probably null |
Het |
Greb1 |
C |
T |
12: 16,758,724 (GRCm39) |
R664Q |
probably damaging |
Het |
Kpnb1 |
T |
A |
11: 97,068,086 (GRCm39) |
I295F |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,835,410 (GRCm39) |
E1577G |
probably benign |
Het |
Lrrk1 |
C |
T |
7: 65,924,620 (GRCm39) |
V235M |
probably damaging |
Het |
Meak7 |
A |
T |
8: 120,499,149 (GRCm39) |
D114E |
probably benign |
Het |
Mipol1 |
T |
A |
12: 57,352,829 (GRCm39) |
V56E |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,442,621 (GRCm39) |
I1927V |
probably benign |
Het |
Ncaph |
A |
T |
2: 126,966,784 (GRCm39) |
N223K |
possibly damaging |
Het |
Nipbl |
A |
G |
15: 8,325,037 (GRCm39) |
M2542T |
probably benign |
Het |
Nolc1 |
C |
A |
19: 46,071,468 (GRCm39) |
|
probably benign |
Het |
Or10j5 |
G |
A |
1: 172,784,743 (GRCm39) |
C127Y |
probably damaging |
Het |
Or51h1 |
A |
G |
7: 102,308,384 (GRCm39) |
M119V |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,393,441 (GRCm39) |
|
probably null |
Het |
Ppat |
A |
T |
5: 77,067,316 (GRCm39) |
C306S |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,717,320 (GRCm39) |
M1821L |
possibly damaging |
Het |
Rabl3 |
C |
T |
16: 37,362,287 (GRCm39) |
S42L |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rfx3 |
G |
A |
19: 27,827,137 (GRCm39) |
H150Y |
possibly damaging |
Het |
Rngtt |
A |
G |
4: 33,356,098 (GRCm39) |
M312V |
possibly damaging |
Het |
Slc10a2 |
T |
A |
8: 5,148,499 (GRCm39) |
T149S |
probably damaging |
Het |
Spata21 |
T |
C |
4: 140,838,576 (GRCm39) |
|
probably benign |
Het |
Stx8 |
G |
T |
11: 67,860,598 (GRCm39) |
W6C |
probably damaging |
Het |
Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
Tmem255b |
G |
A |
8: 13,507,055 (GRCm39) |
M240I |
probably benign |
Het |
Ubr4 |
G |
A |
4: 139,186,445 (GRCm39) |
E651K |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,002,558 (GRCm39) |
T1498A |
probably benign |
Het |
Vmn2r95 |
G |
A |
17: 18,664,116 (GRCm39) |
C445Y |
probably damaging |
Het |
Zfp429 |
T |
A |
13: 67,547,855 (GRCm39) |
|
probably benign |
Het |
Zfp804b |
T |
G |
5: 6,821,392 (GRCm39) |
D557A |
possibly damaging |
Het |
|
Other mutations in Tcn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01962:Tcn2
|
APN |
11 |
3,875,072 (GRCm39) |
missense |
probably benign |
|
IGL02311:Tcn2
|
APN |
11 |
3,867,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02614:Tcn2
|
APN |
11 |
3,876,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02655:Tcn2
|
APN |
11 |
3,876,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02752:Tcn2
|
APN |
11 |
3,876,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0265:Tcn2
|
UTSW |
11 |
3,872,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R0845:Tcn2
|
UTSW |
11 |
3,869,349 (GRCm39) |
missense |
probably benign |
|
R1255:Tcn2
|
UTSW |
11 |
3,872,120 (GRCm39) |
missense |
probably benign |
0.16 |
R1459:Tcn2
|
UTSW |
11 |
3,877,516 (GRCm39) |
missense |
probably benign |
0.01 |
R1696:Tcn2
|
UTSW |
11 |
3,872,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Tcn2
|
UTSW |
11 |
3,872,114 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4210:Tcn2
|
UTSW |
11 |
3,872,114 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4211:Tcn2
|
UTSW |
11 |
3,872,114 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5357:Tcn2
|
UTSW |
11 |
3,876,017 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5973:Tcn2
|
UTSW |
11 |
3,877,546 (GRCm39) |
nonsense |
probably null |
|
R6973:Tcn2
|
UTSW |
11 |
3,867,649 (GRCm39) |
makesense |
probably null |
|
R7479:Tcn2
|
UTSW |
11 |
3,867,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R8023:Tcn2
|
UTSW |
11 |
3,877,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8854:Tcn2
|
UTSW |
11 |
3,876,074 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8919:Tcn2
|
UTSW |
11 |
3,873,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R9028:Tcn2
|
UTSW |
11 |
3,872,111 (GRCm39) |
missense |
probably damaging |
0.99 |
R9352:Tcn2
|
UTSW |
11 |
3,873,446 (GRCm39) |
missense |
probably damaging |
1.00 |
T0975:Tcn2
|
UTSW |
11 |
3,873,487 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Posted On |
2015-04-16 |