Incidental Mutation 'R5357:Tcn2'
| ID |
434554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcn2
|
| Ensembl Gene |
ENSMUSG00000020432 |
| Gene Name |
transcobalamin 2 |
| Synonyms |
Tcn-2 |
| MMRRC Submission |
042936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5357 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3867192-3882159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 3876017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 137
(D137A)
|
| 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: D137A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: D137A
| 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: D137A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: D137A
| 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: D137A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: D137A
| 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: D137A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: D137A
| 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: D137A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: D137A
| 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: D137A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: D137A
| 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: D137A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: D137A
| 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: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,463 (GRCm39) |
V206A |
possibly damaging |
Het |
| 5730522E02Rik |
A |
T |
11: 25,598,148 (GRCm39) |
C102* |
probably null |
Het |
| Brsk2 |
C |
A |
7: 141,538,248 (GRCm39) |
D131E |
possibly damaging |
Het |
| Cacng7 |
T |
C |
7: 3,387,452 (GRCm39) |
F112L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,811,384 (GRCm39) |
C282* |
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
| Dyrk1b |
T |
C |
7: 27,884,743 (GRCm39) |
V326A |
possibly damaging |
Het |
| Eloa |
T |
C |
4: 135,736,559 (GRCm39) |
D563G |
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,253,623 (GRCm39) |
K489R |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,337,497 (GRCm39) |
E326G |
probably damaging |
Het |
| Gm1758 |
G |
A |
16: 14,320,218 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
T |
6: 27,762,418 (GRCm39) |
L269Q |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,863,990 (GRCm39) |
I284T |
possibly damaging |
Het |
| Hyal6 |
T |
A |
6: 24,734,517 (GRCm39) |
M150K |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,113 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,820 (GRCm39) |
K450R |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,978,950 (GRCm39) |
E2G |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Map2k7 |
A |
T |
8: 4,294,461 (GRCm39) |
H253L |
probably damaging |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,559,780 (GRCm39) |
T248A |
possibly damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,732 (GRCm39) |
C33S |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,491,463 (GRCm39) |
M1K |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,263,831 (GRCm39) |
S302P |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,415,384 (GRCm39) |
Y66H |
probably benign |
Het |
| Pgm3 |
G |
A |
9: 86,438,310 (GRCm39) |
R451* |
probably null |
Het |
| Phf10 |
A |
T |
17: 15,174,275 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
G |
17: 24,784,764 (GRCm39) |
V402G |
probably damaging |
Het |
| Plekha4 |
G |
T |
7: 45,184,195 (GRCm39) |
V61F |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,740,708 (GRCm39) |
|
probably null |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,167,700 (GRCm39) |
H444R |
probably benign |
Het |
| Tnks2 |
G |
A |
19: 36,826,690 (GRCm39) |
|
silent |
Het |
| Trh |
T |
A |
6: 92,219,815 (GRCm39) |
D167V |
probably benign |
Het |
| Tshz1 |
C |
T |
18: 84,033,205 (GRCm39) |
G401D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,798,138 (GRCm39) |
Q453L |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,083 (GRCm39) |
K805* |
probably null |
Het |
| Wnt16 |
T |
G |
6: 22,291,231 (GRCm39) |
|
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,550,780 (GRCm39) |
V665E |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,520,328 (GRCm39) |
M63K |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,734,159 (GRCm39) |
Q584* |
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 |
|
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'- CTTCTAGGTAGACCCAGTGAGG -3'
(R):5'- AGGGGAGCACCTTCTTACAAAG -3'
Sequencing Primer
(F):5'- TTAGAAGAGGTCTGGGAAGAAACC -3'
(R):5'- ACAAAGGTTCTCTTGTCTTGCC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation