Mutagenetix > Incidental Mutation

Incidental Mutation 'R1114:Cd247'

96984

Institutional Source

Beutler Lab

Gene Symbol

Cd247

Ensembl Gene

ENSMUSG00000005763

Gene Name

CD247 antigen

Synonyms

Cd3z, Tcrz, T3z, TCRk, CD3-eta, CD3 zeta, CD3zeta, CD3-zeta/eta, Cd3h, CD3-zeta, 4930549J05Rik

MMRRC Submission

039187-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1114 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

165616250-165704846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165616407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 4 (K4E)

Ref Sequence

ENSEMBL: ENSMUSP00000136456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005907] [ENSMUST00000027849] [ENSMUST00000086002] [ENSMUST00000161559] [ENSMUST00000161971] [ENSMUST00000187313] [ENSMUST00000178336]

AlphaFold

P24161

Predicted Effect

probably benign
Transcript: ENSMUST00000005907
AA Change: K4E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000005907
Gene: ENSMUSG00000005763
AA Change: K4E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.7e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
ITAM	139	159	6.45e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000027849
AA Change: K4E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027849
Gene: ENSMUSG00000005763
AA Change: K4E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	58	4.3e-21	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
low complexity region	195	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086002
AA Change: K4E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083165
Gene: ENSMUSG00000005763
AA Change: K4E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	2.5e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
low complexity region	195	204	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159138

Predicted Effect

probably benign
Transcript: ENSMUST00000161559
AA Change: K4E

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124299
Gene: ENSMUSG00000005763
AA Change: K4E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.7e-24	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	107	128	1.27e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161971
AA Change: K4E

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124297
Gene: ENSMUSG00000005763
AA Change: K4E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.5e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187313
AA Change: K4E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140926
Gene: ENSMUSG00000005763
AA Change: K4E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	2.5e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
low complexity region	195	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178336
AA Change: K4E

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136456
Gene: ENSMUSG00000005763
AA Change: K4E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.7e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.5%
20x: 84.2%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit greatly reduced numbers of CD4+CD8+ cells, and near absence of CD4+CD8-, CD4-CD8+ cells, and TCR expression in the thymus, but the presence of single positive T cells in lymph nodes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	T	A	9: 8,222,179 (GRCm39)		noncoding transcript	Het
Acss3	T	A	10: 106,824,740 (GRCm39)	R422S	possibly damaging	Het
Asb15	G	A	6: 24,567,176 (GRCm39)	R499H	probably damaging	Het
Aspm	C	T	1: 139,389,662 (GRCm39)		probably benign	Het
Camk2d	G	A	3: 126,633,941 (GRCm39)	V488M	probably damaging	Het
Cdh20	A	G	1: 104,906,739 (GRCm39)	D522G	probably damaging	Het
Cse1l	T	A	2: 166,783,123 (GRCm39)		probably benign	Het
Dctn2	T	A	10: 127,114,011 (GRCm39)		probably null	Het
Dpy19l1	A	T	9: 24,336,072 (GRCm39)	F545I	probably benign	Het
Dpy19l4	A	G	4: 11,287,643 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,540 (GRCm39)	T719S	possibly damaging	Het
Dusp12	A	C	1: 170,708,586 (GRCm39)	V48G	probably damaging	Het
Efcab7	A	T	4: 99,735,452 (GRCm39)	R159*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw20	A	G	9: 109,052,550 (GRCm39)	V261A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Inpp5j	C	A	11: 3,444,814 (GRCm39)	R953L	possibly damaging	Het
Itprid2	A	G	2: 79,487,873 (GRCm39)	E652G	probably damaging	Het
Lrrk2	C	T	15: 91,584,671 (GRCm39)	R363*	probably null	Het
Ltbp1	A	G	17: 75,667,770 (GRCm39)	D1089G	probably benign	Het
Luc7l	T	C	17: 26,494,832 (GRCm39)		probably benign	Het
Mdn1	G	A	4: 32,746,568 (GRCm39)		probably null	Het
Mgat4a	A	T	1: 37,503,487 (GRCm39)		probably benign	Het
Mmp12	A	G	9: 7,358,289 (GRCm39)	T392A	possibly damaging	Het
Nlrp12	A	G	7: 3,277,166 (GRCm39)	V921A	probably benign	Het
Or5m5	A	T	2: 85,814,651 (GRCm39)	I156F	probably benign	Het
Or5t7	G	A	2: 86,507,629 (GRCm39)	T16I	possibly damaging	Het
Or6c8b	T	A	10: 128,882,711 (GRCm39)	I74F	possibly damaging	Het
Pkd2l1	T	C	19: 44,179,983 (GRCm39)		probably benign	Het
Pramel24	A	G	4: 143,453,425 (GRCm39)	I178V	probably benign	Het
Rictor	C	A	15: 6,823,486 (GRCm39)	C1554*	probably null	Het
Ryr2	A	G	13: 11,960,867 (GRCm39)	C24R	probably damaging	Het
Scamp2	T	A	9: 57,488,863 (GRCm39)	I188N	probably damaging	Het
Smg1	A	T	7: 117,759,013 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Synrg	C	A	11: 83,914,262 (GRCm39)		probably benign	Het
Syt9	G	T	7: 107,024,562 (GRCm39)	V152F	possibly damaging	Het
Trmt2a	A	G	16: 18,068,304 (GRCm39)		probably benign	Het
Vmn2r100	T	C	17: 19,752,261 (GRCm39)	I831T	probably damaging	Het
Vps13a	G	T	19: 16,727,515 (GRCm39)	H196N	probably benign	Het
Xdh	T	C	17: 74,248,144 (GRCm39)		probably benign	Het

Other mutations in Cd247

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02869:Cd247	APN	1	165,684,986 (GRCm39)	missense	probably damaging	1.00
allia	UTSW	1	165,682,783 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Cd247	UTSW	1	165,688,605 (GRCm39)	missense	probably damaging	0.99
R9342:Cd247	UTSW	1	165,682,759 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGACGGATGCACATTCTTACACC -3'
(R):5'- CCCGTTGACTTTGGGAAGACAAGC -3'

Sequencing Primer
(F):5'- GAACTTCCTGCCTATGAATCGAG -3'
(R):5'- GCTTTAAAAGAAGCACCAGGTC -3'

Posted On

2014-01-05