Mutagenetix > Incidental Mutation

Incidental Mutation 'T0975:Tcn2'

262165

Institutional Source

Beutler Lab

Gene Symbol

Tcn2

Ensembl Gene

ENSMUSG00000020432

Gene Name

transcobalamin 2

Synonyms

Tcn-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

T0975 (G3) of strain 714

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3867192-3882159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 3873487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 286 (F286L)

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: F286L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: F286L

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: F286L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: F286L

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: F286L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: F286L

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: F286L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: F286L

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: F286L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: F286L

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: F286L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: F286L

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: F286L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: F286L

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: 99.4%
3x: 98.7%
10x: 97.0%
20x: 93.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	TAA	TAAA	11: 3,887,945 (GRCm39)		probably null	Het
4930556J24Rik	C	T	11: 3,926,324 (GRCm39)	A27T	unknown	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,071,384 (GRCm39)		probably null	Het
Castor1	G	C	11: 4,170,445 (GRCm39)	G147A	probably benign	Het
Ccdc157	C	T	11: 4,096,246 (GRCm39)	A455T	probably damaging	Het
Ccng1	A	C	11: 40,644,871 (GRCm39)	S9A	probably benign	Het
Cfh	T	C	1: 140,082,336 (GRCm39)	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Chrng	T	C	1: 87,138,348 (GRCm39)	S380P	probably benign	Het
Clspn	ACGGCGGCGGCGGCG	ACGGCGGCGGCGGCGGCGGCG	4: 126,460,230 (GRCm39)		probably benign	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cxxc1	C	T	18: 74,353,992 (GRCm39)	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,823,950 (GRCm39)	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,840,130 (GRCm39)	S1255G	probably benign	Het
Dpep1	A	T	8: 123,927,727 (GRCm39)	S388C	probably damaging	Het
Emid1	T	C	11: 5,094,386 (GRCm39)	T42A	probably damaging	Het
Emid1	A	C	11: 5,078,884 (GRCm39)	L353V	probably benign	Het
Epn3	A	G	11: 94,382,733 (GRCm39)		probably null	Het
Fam124b	T	C	1: 80,190,843 (GRCm39)	E180G	probably benign	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm9972	GA	GAA	11: 42,927,597 (GRCm39)		probably null	Het
Hmmr	G	C	11: 40,614,243 (GRCm39)	N148K	probably damaging	Het
Homez	C	T	14: 55,094,796 (GRCm39)	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,485,221 (GRCm39)	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,452,527 (GRCm39)	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,089,660 (GRCm39)		probably benign	Het
Kremen1	C	T	11: 5,145,105 (GRCm39)	A424T	probably benign	Het
Mat2b	G	A	11: 40,570,918 (GRCm39)	T302I	probably benign	Het
Mtmr3	C	T	11: 4,438,441 (GRCm39)	R671K	probably benign	Het
Nacad	A	G	11: 6,551,632 (GRCm39)	C520R	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,549,750 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,551,622 (GRCm39)	N523S	probably benign	Het
Nefh	G	A	11: 4,890,151 (GRCm39)	P823S	probably benign	Het
Nfrkb	G	C	9: 31,308,379 (GRCm39)	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,149,062 (GRCm39)	E223G	probably damaging	Het
Notch3	T	A	17: 32,365,391 (GRCm39)	Y1107F	probably damaging	Het
Or10ak9	G	T	4: 118,726,500 (GRCm39)	R174M	probably benign	Het
Or13g1	A	T	7: 85,955,492 (GRCm39)	Y276*	probably null	Het
Or6c35	A	G	10: 129,169,314 (GRCm39)	D188G	probably benign	Het
Osm	A	G	11: 4,189,588 (GRCm39)	D124G	probably benign	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 132,984,305 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,560,712 (GRCm39)	S10P	probably benign	Het
Tmprss7	C	T	16: 45,501,096 (GRCm39)	R235Q	probably benign	Het
Tns3	G	A	11: 8,499,100 (GRCm39)		probably benign	Het
Tns3	G	T	11: 8,401,146 (GRCm39)	L1051M	probably benign	Het
Tns3	T	G	11: 8,429,518 (GRCm39)	E806A	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Txnrd2	A	G	16: 18,294,315 (GRCm39)	H436R	probably damaging	Het
Ubr4	C	T	4: 139,179,092 (GRCm39)	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,690,120 (GRCm39)	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zfyve21	A	G	12: 111,794,067 (GRCm39)	D206G	probably damaging	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het
Zpld2	GTG	GTGCTG	4: 133,929,940 (GRCm39)		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
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

Predicted Primers

Posted On

2015-02-04