Incidental Mutation 'R0845:Tcn2'
| ID |
77330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcn2
|
| Ensembl Gene |
ENSMUSG00000020432 |
| Gene Name |
transcobalamin 2 |
| Synonyms |
Tcn-2 |
| MMRRC Submission |
039024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R0845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3867192-3882159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3869349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 391
(D391V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020710]
[ENSMUST00000051207]
[ENSMUST00000109988]
[ENSMUST00000109989]
[ENSMUST00000109990]
[ENSMUST00000109991]
[ENSMUST00000109992]
[ENSMUST00000109993]
[ENSMUST00000109995]
|
| AlphaFold |
O88968 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020710
AA Change: D391V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: D391V
| 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 |
probably benign
Transcript: ENSMUST00000051207
|
| SMART Domains |
Protein: ENSMUSP00000050978
Gene: ENSMUSG00000048807
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EamA
|
50 |
179 |
1.9e-9 |
PFAM |
|
Pfam:UAA
|
68 |
332 |
2.1e-15 |
PFAM |
|
Pfam:TPT
|
188 |
327 |
2.5e-19 |
PFAM |
|
Pfam:EamA
|
200 |
326 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109988
AA Change: D391V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: D391V
| 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 |
probably benign
Transcript: ENSMUST00000109989
AA Change: D391V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: D391V
| 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 |
probably benign
Transcript: ENSMUST00000109990
AA Change: D391V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: D391V
| 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 |
probably benign
Transcript: ENSMUST00000109991
AA Change: D391V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: D391V
| 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 |
probably benign
Transcript: ENSMUST00000109992
AA Change: D391V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: D391V
| 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 |
probably benign
Transcript: ENSMUST00000109993
AA Change: D391V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: D391V
| 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 |
probably benign
Transcript: ENSMUST00000109995
|
| SMART Domains |
Protein: ENSMUSP00000105622
Gene: ENSMUSG00000048807
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EamA
|
47 |
179 |
9.7e-7 |
PFAM |
|
Pfam:TPT
|
47 |
327 |
6.1e-21 |
PFAM |
|
Pfam:UAA
|
56 |
330 |
1.3e-7 |
PFAM |
|
Pfam:EamA
|
187 |
327 |
2.6e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.2%
|
| Validation Efficiency |
96% (45/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
G |
T |
7: 28,612,855 (GRCm39) |
A116E |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,204 (GRCm39) |
I338V |
probably damaging |
Het |
| Akap13 |
T |
G |
7: 75,375,128 (GRCm39) |
V1920G |
probably damaging |
Het |
| Atp6v0d2 |
C |
T |
4: 19,880,055 (GRCm39) |
V281I |
probably benign |
Het |
| AW209491 |
T |
G |
13: 14,811,607 (GRCm39) |
S153R |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,069,395 (GRCm39) |
Y433* |
probably null |
Het |
| Bub1b |
A |
G |
2: 118,440,457 (GRCm39) |
H187R |
probably damaging |
Het |
| Clstn2 |
T |
A |
9: 97,452,681 (GRCm39) |
Q242L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Comt |
T |
C |
16: 18,226,711 (GRCm39) |
Y225C |
probably damaging |
Het |
| Ctbs |
T |
A |
3: 146,160,862 (GRCm39) |
L143Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,515,489 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,194,194 (GRCm39) |
I435T |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,026,469 (GRCm39) |
F1859S |
probably damaging |
Het |
| Glud1 |
A |
G |
14: 34,051,351 (GRCm39) |
|
probably benign |
Het |
| Gm8220 |
A |
G |
14: 44,524,248 (GRCm39) |
H71R |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,223 (GRCm39) |
E238G |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,341,475 (GRCm39) |
H332R |
probably benign |
Het |
| Itga5 |
T |
A |
15: 103,259,196 (GRCm39) |
T744S |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,938,576 (GRCm39) |
E453G |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,640,165 (GRCm39) |
P1570Q |
probably benign |
Het |
| Lrsam1 |
C |
T |
2: 32,843,455 (GRCm39) |
R150Q |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Msln |
T |
C |
17: 25,969,770 (GRCm39) |
Y320C |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,426,486 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,404,183 (GRCm39) |
|
probably null |
Het |
| Mup21 |
A |
G |
4: 62,068,547 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,177,090 (GRCm39) |
V414A |
probably damaging |
Het |
| P2rx5 |
T |
C |
11: 73,056,400 (GRCm39) |
I108T |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,793 (GRCm39) |
L261P |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,522,980 (GRCm39) |
D29G |
probably benign |
Het |
| Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,809,106 (GRCm39) |
D230G |
probably benign |
Het |
| Pik3r1 |
G |
T |
13: 101,822,772 (GRCm39) |
D643E |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,521 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,247,151 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,401,479 (GRCm39) |
S105T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,177 (GRCm39) |
S676P |
probably benign |
Het |
| Srrm4 |
C |
T |
5: 116,582,944 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,855,303 (GRCm39) |
T808A |
probably damaging |
Het |
| Ubqln3 |
G |
T |
7: 103,791,275 (GRCm39) |
Q272K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,139,703 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,728,715 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
T |
7: 6,309,091 (GRCm39) |
K586N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTCTTGGACTCTCCACAACAAC -3'
(R):5'- GCTGAACACATAGACCTTTGCTTGC -3'
Sequencing Primer
(F):5'- ATTTTGGACCCAACTTTGAGC -3'
(R):5'- AGCTTGTGTGAATACTCCACCAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation