Incidental Mutation 'IGL02614:Tcn2'
| ID |
300591 |
| 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: 0.057)
|
| Stock # |
IGL02614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
3867192-3882159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3876158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 90
(S90I)
|
| 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: S90I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: S90I
| 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: S90I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: S90I
| 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: S90I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: S90I
| 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: S90I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: S90I
| 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: S90I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: S90I
| 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: S90I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: S90I
| 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: S90I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: S90I
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
| Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,551,661 (GRCm39) |
M187K |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
| Cmbl |
G |
T |
15: 31,589,830 (GRCm39) |
V187F |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
| Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
| Galnt16 |
T |
C |
12: 80,623,337 (GRCm39) |
S166P |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
| Gpr87 |
C |
A |
3: 59,086,738 (GRCm39) |
V256L |
probably damaging |
Het |
| Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,103,392 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,827 (GRCm39) |
N79Y |
probably benign |
Het |
| Nr1i2 |
T |
A |
16: 38,074,118 (GRCm39) |
H165L |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
| Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
| Rpn1 |
T |
A |
6: 88,079,087 (GRCm39) |
I510N |
probably benign |
Het |
| Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
| Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
probably 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 |
|
IGL02655:Tcn2
|
APN |
11 |
3,876,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02679:Tcn2
|
APN |
11 |
3,877,504 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
Incidental Mutation