Incidental Mutation 'R6973:Tcn2'
ID |
543718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcn2
|
Ensembl Gene |
ENSMUSG00000020432 |
Gene Name |
transcobalamin 2 |
Synonyms |
Tcn-2 |
MMRRC Submission |
045083-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6973 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
3867192-3882159 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 3867649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 431
(*431W)
|
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 null
Transcript: ENSMUST00000020710
AA Change: *431W
|
SMART Domains |
Protein: ENSMUSP00000020710 Gene: ENSMUSG00000020432 AA Change: *431W
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 null
Transcript: ENSMUST00000109988
AA Change: *431W
|
SMART Domains |
Protein: ENSMUSP00000105615 Gene: ENSMUSG00000020432 AA Change: *431W
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 null
Transcript: ENSMUST00000109989
AA Change: *431W
|
SMART Domains |
Protein: ENSMUSP00000105616 Gene: ENSMUSG00000020432 AA Change: *431W
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 null
Transcript: ENSMUST00000109990
AA Change: *431W
|
SMART Domains |
Protein: ENSMUSP00000105617 Gene: ENSMUSG00000020432 AA Change: *431W
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 null
Transcript: ENSMUST00000109991
AA Change: *431W
|
SMART Domains |
Protein: ENSMUSP00000105618 Gene: ENSMUSG00000020432 AA Change: *431W
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 null
Transcript: ENSMUST00000109992
AA Change: *431W
|
SMART Domains |
Protein: ENSMUSP00000105619 Gene: ENSMUSG00000020432 AA Change: *431W
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 null
Transcript: ENSMUST00000109993
AA Change: *431W
|
SMART Domains |
Protein: ENSMUSP00000105620 Gene: ENSMUSG00000020432 AA Change: *431W
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
95% (37/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,331,866 (GRCm39) |
C1461* |
probably null |
Het |
Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
Atp6v1c1 |
A |
G |
15: 38,690,794 (GRCm39) |
N315S |
probably damaging |
Het |
B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
C2cd4d |
G |
T |
3: 94,271,130 (GRCm39) |
R132L |
probably damaging |
Het |
Cd244a |
A |
G |
1: 171,401,775 (GRCm39) |
Y167C |
probably damaging |
Het |
Chd4 |
A |
G |
6: 125,099,825 (GRCm39) |
N1666D |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,386,648 (GRCm39) |
I1539T |
possibly damaging |
Het |
Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
Dgka |
C |
T |
10: 128,565,463 (GRCm39) |
|
probably null |
Het |
Ephb4 |
T |
G |
5: 137,368,066 (GRCm39) |
V737G |
probably damaging |
Het |
Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
Exoc4 |
G |
T |
6: 33,556,965 (GRCm39) |
C490F |
probably damaging |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gpbp1l1 |
A |
G |
4: 116,438,479 (GRCm39) |
M192V |
possibly damaging |
Het |
Ireb2 |
A |
G |
9: 54,789,671 (GRCm39) |
K115R |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
Or52h7 |
G |
A |
7: 104,214,183 (GRCm39) |
V252I |
probably benign |
Het |
Or8u3-ps |
C |
T |
2: 85,953,198 (GRCm39) |
T310I |
probably benign |
Het |
Pcdhb2 |
G |
C |
18: 37,429,416 (GRCm39) |
R463P |
probably benign |
Het |
Pcdhgb6 |
A |
T |
18: 37,875,526 (GRCm39) |
D78V |
possibly damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Prelid3b |
C |
A |
2: 174,311,155 (GRCm39) |
W59L |
probably benign |
Het |
Prex2 |
T |
G |
1: 11,182,967 (GRCm39) |
S405R |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,422,217 (GRCm39) |
Q248* |
probably null |
Het |
Rspo4 |
T |
A |
2: 151,709,735 (GRCm39) |
C47S |
probably damaging |
Het |
Ryr3 |
C |
A |
2: 112,596,656 (GRCm39) |
M2499I |
probably damaging |
Het |
Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
Spata31d1e |
A |
G |
13: 59,890,521 (GRCm39) |
I433T |
probably benign |
Het |
Tert |
A |
G |
13: 73,776,107 (GRCm39) |
E286G |
probably benign |
Het |
Tnni3 |
A |
G |
7: 4,521,416 (GRCm39) |
I196T |
possibly damaging |
Het |
Unc79 |
T |
C |
12: 102,964,699 (GRCm39) |
I49T |
possibly damaging |
Het |
Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
Het |
Znfx1 |
T |
A |
2: 166,898,681 (GRCm39) |
H81L |
probably benign |
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 |
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 |
|
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'- TCATGAAAGACCTGTGGGATCAG -3'
(R):5'- ACCAAGCCTCGTTCTGACTC -3'
Sequencing Primer
(F):5'- CTGTGGGATCAGGCAGGG -3'
(R):5'- AAGCCTCGTTCTGACTCTCTGG -3'
|
Posted On |
2019-05-13 |