Incidental Mutation 'R8023:Tcn2'
| ID |
617542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcn2
|
| Ensembl Gene |
ENSMUSG00000020432 |
| Gene Name |
transcobalamin 2 |
| Synonyms |
Tcn-2 |
| MMRRC Submission |
067462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3867192-3882159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3877579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 23
(I23K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105617
(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: I23K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: I23K
| 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: I23K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: I23K
| 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: I23K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: I23K
| 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: I23K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: I23K
| 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: I23K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: I23K
| 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: I23K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: I23K
| 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: I23K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: I23K
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
A |
G |
17: 57,152,448 (GRCm39) |
Y665H |
probably damaging |
Het |
| Acte1 |
T |
C |
7: 143,445,528 (GRCm39) |
S192P |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 111,474,345 (GRCm39) |
V378E |
probably benign |
Het |
| Card9 |
T |
C |
2: 26,247,327 (GRCm39) |
D274G |
probably benign |
Het |
| Ccnc |
T |
C |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
G |
6: 4,533,847 (GRCm39) |
S843A |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,402,251 (GRCm39) |
I111F |
probably damaging |
Het |
| Fam24b |
A |
C |
7: 130,927,869 (GRCm39) |
S107A |
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,774,461 (GRCm39) |
C599Y |
probably damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,683 (GRCm39) |
A225V |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,277,640 (GRCm39) |
V475A |
probably benign |
Het |
| H2ac20 |
A |
G |
3: 96,128,106 (GRCm39) |
S19P |
unknown |
Het |
| Heg1 |
T |
A |
16: 33,550,895 (GRCm39) |
V958E |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,899,197 (GRCm39) |
M30T |
probably benign |
Het |
| Hk2 |
T |
A |
6: 82,705,790 (GRCm39) |
M838L |
probably benign |
Het |
| Hpd |
A |
G |
5: 123,314,297 (GRCm39) |
F206S |
probably damaging |
Het |
| Il34 |
C |
T |
8: 111,469,284 (GRCm39) |
C177Y |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,820,260 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,088,988 (GRCm39) |
I2240T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,321 (GRCm39) |
|
probably null |
Het |
| Mpz |
A |
G |
1: 170,987,602 (GRCm39) |
D246G |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,421,057 (GRCm39) |
A753S |
probably benign |
Het |
| Ndufs2 |
A |
T |
1: 171,064,263 (GRCm39) |
M375K |
probably damaging |
Het |
| Obox2 |
A |
G |
7: 15,131,145 (GRCm39) |
K84E |
possibly damaging |
Het |
| Or4c31 |
A |
G |
2: 88,292,022 (GRCm39) |
I132V |
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,006 (GRCm39) |
I301T |
probably damaging |
Het |
| Or7e178 |
C |
T |
9: 20,225,545 (GRCm39) |
V224I |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,795,241 (GRCm39) |
L665Q |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,099 (GRCm39) |
E38G |
probably benign |
Het |
| Ptpn3 |
G |
C |
4: 57,248,688 (GRCm39) |
D215E |
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,488,477 (GRCm39) |
Q987* |
probably null |
Het |
| Ranbp6 |
T |
C |
19: 29,789,222 (GRCm39) |
S377G |
possibly damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,594,506 (GRCm39) |
L168Q |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,759,171 (GRCm39) |
I311T |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,390 (GRCm39) |
Y211C |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,859,813 (GRCm39) |
Y314F |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc6a20a |
T |
C |
9: 123,489,657 (GRCm39) |
N129D |
probably damaging |
Het |
| Slu7 |
G |
A |
11: 43,336,975 (GRCm39) |
R572Q |
probably benign |
Het |
| Tbx6 |
C |
T |
7: 126,382,031 (GRCm39) |
A123V |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,224 (GRCm39) |
D180G |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,131,346 (GRCm39) |
L1400P |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,863,571 (GRCm39) |
T588A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,769,564 (GRCm39) |
V2741A |
unknown |
Het |
| Txlna |
A |
T |
4: 129,533,278 (GRCm39) |
S83R |
probably damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,272 (GRCm39) |
Q382* |
probably null |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,028 (GRCm39) |
V424A |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,256,553 (GRCm39) |
L1508I |
probably damaging |
Het |
| Zfp189 |
G |
A |
4: 49,530,312 (GRCm39) |
G472R |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,073,106 (GRCm39) |
|
probably null |
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 |
|
|
R6973:Tcn2
|
UTSW |
11 |
3,867,649 (GRCm39) |
makesense |
probably null |
|
|
R7479:Tcn2
|
UTSW |
11 |
3,867,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGCACTGCTGGTAATGGATC -3'
(R):5'- GCCCAGTCTAATTCCTCTTAGG -3'
Sequencing Primer
(F):5'- CACTGCTGGTAATGGATCTTGAG -3'
(R):5'- AGGAGATGCCCGCTTTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation