Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02598:Cd28'

299973

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd28

Ensembl Gene

ENSMUSG00000026012

Gene Name

CD28 antigen

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL02598

Quality Score

Status

Chromosome

Chromosomal Location

60785547-60812521 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 60802498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027165]

AlphaFold

P31041

Predicted Effect

probably benign
Transcript: ENSMUST00000027165

SMART Domains

Protein: ENSMUSP00000027165
Gene: ENSMUSG00000026012

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	26	137	2.57e0	SMART
transmembrane domain	154	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153207

Coding Region Coverage

Validation Efficiency

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 essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous mutation of this gene results in impairment of some T cell responses and decreased basal immunoglobulin levels. Mutant animals have reduced T helper cell activity and impaired T cell response to lectins, but cytotoxic T cells can still be induced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,834,448 (GRCm39)	M1K	probably null	Het
Abca13	C	T	11: 9,381,898 (GRCm39)	T3850I	probably damaging	Het
Abcc4	A	T	14: 118,905,781 (GRCm39)	L95*	probably null	Het
Acacb	A	G	5: 114,384,098 (GRCm39)	Y2209C	probably damaging	Het
Acadm	A	G	3: 153,644,181 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,269,417 (GRCm39)	V1177M	probably damaging	Het
Atp8a1	A	T	5: 67,840,099 (GRCm39)		probably null	Het
Catsperd	A	G	17: 56,954,815 (GRCm39)		probably null	Het
Cep164	A	G	9: 45,682,002 (GRCm39)	Y1934H	probably damaging	Het
Cep350	T	C	1: 155,738,713 (GRCm39)	I2377V	probably benign	Het
Csmd3	T	C	15: 47,533,086 (GRCm39)	K1581E	probably damaging	Het
Dab2	A	T	15: 6,458,847 (GRCm39)	N232I	probably damaging	Het
Dyrk4	G	A	6: 126,860,982 (GRCm39)		probably benign	Het
Efcab14	T	A	4: 115,597,631 (GRCm39)	C75*	probably null	Het
Elovl1	T	C	4: 118,288,616 (GRCm39)		probably null	Het
Eps8l2	T	G	7: 140,934,849 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,744,872 (GRCm39)	V460E	probably damaging	Het
Gtf2f2	A	G	14: 76,245,182 (GRCm39)	S35P	probably benign	Het
Ifi203	A	G	1: 173,762,568 (GRCm39)		probably benign	Het
Ifi209	T	C	1: 173,472,281 (GRCm39)	V374A	probably damaging	Het
Kics2	G	A	10: 121,575,876 (GRCm39)		probably benign	Het
Lars1	A	G	18: 42,360,342 (GRCm39)	S705P	possibly damaging	Het
Lcmt1	A	G	7: 123,020,871 (GRCm39)		probably benign	Het
Limd1	T	C	9: 123,345,933 (GRCm39)	S571P	probably benign	Het
Limd1	T	A	9: 123,309,236 (GRCm39)	Y312N	probably benign	Het
Lin28b	A	T	10: 45,296,622 (GRCm39)	D125E	possibly damaging	Het
Lmtk3	T	C	7: 45,442,564 (GRCm39)	S416P	probably damaging	Het
Map7d3	T	C	X: 55,855,146 (GRCm39)	T446A	probably benign	Het
Masp1	T	A	16: 23,278,381 (GRCm39)	M523L	probably benign	Het
Mroh4	C	A	15: 74,483,092 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,537,953 (GRCm39)	A651T	probably damaging	Het
Myocd	A	G	11: 65,074,296 (GRCm39)	S738P	probably benign	Het
Or10a2	A	T	7: 106,673,923 (GRCm39)	N296I	possibly damaging	Het
Or4d5	A	T	9: 40,011,861 (GRCm39)	F308L	probably benign	Het
Or52l1	A	G	7: 104,830,163 (GRCm39)	V134A	probably damaging	Het
Or5d46	A	T	2: 88,170,595 (GRCm39)	I229F	possibly damaging	Het
Or6c3b	A	T	10: 129,527,142 (GRCm39)	I256N	possibly damaging	Het
Parg	G	T	14: 31,936,281 (GRCm39)	V479L	probably damaging	Het
Pcdhb10	C	A	18: 37,546,834 (GRCm39)	H637N	possibly damaging	Het
Plekhg2	G	A	7: 28,059,900 (GRCm39)	T1118I	possibly damaging	Het
Podxl	T	C	6: 31,501,355 (GRCm39)	E400G	probably damaging	Het
Prss54	C	A	8: 96,292,337 (GRCm39)	V81F	probably damaging	Het
Pzp	A	G	6: 128,464,420 (GRCm39)	L1369P	probably benign	Het
Rfx8	A	T	1: 39,735,128 (GRCm39)		probably benign	Het
Rgs6	C	T	12: 83,138,571 (GRCm39)	P302S	probably benign	Het
Rnf148	A	C	6: 23,654,456 (GRCm39)	I180S	probably damaging	Het
Sacm1l	A	G	9: 123,408,061 (GRCm39)	D350G	probably benign	Het
Slc33a1	C	T	3: 63,850,753 (GRCm39)	G524S	probably benign	Het
Slc5a7	A	G	17: 54,591,221 (GRCm39)	V237A	probably benign	Het
Spink7	T	C	18: 62,727,356 (GRCm39)	D56G	probably damaging	Het
Syn3	A	G	10: 86,303,063 (GRCm39)	S31P	probably damaging	Het
Tesl1	A	T	X: 23,773,710 (GRCm39)	T404S	probably benign	Het
Thrb	C	A	14: 18,008,606 (GRCm38)	P110Q	possibly damaging	Het
Vmn2r76	G	T	7: 85,877,879 (GRCm39)	T506K	probably benign	Het
Vps45	A	G	3: 95,938,354 (GRCm39)	L486P	probably benign	Het
Zan	G	A	5: 137,444,473 (GRCm39)	T1823M	unknown	Het
Zdhhc6	T	A	19: 55,302,959 (GRCm39)	Q14L	probably benign	Het
Zfp990	A	T	4: 145,263,533 (GRCm39)	N177I	possibly damaging	Het

Other mutations in Cd28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Cd28	APN	1	60,802,307 (GRCm39)	nonsense	probably null
IGL02211:Cd28	APN	1	60,802,153 (GRCm39)	missense	probably damaging	1.00
Iago	UTSW	1	60,802,332 (GRCm39)	nonsense	probably null
Othello	UTSW	1	60,802,487 (GRCm39)	missense	possibly damaging	0.87
R1195:Cd28	UTSW	1	60,802,303 (GRCm39)	missense	possibly damaging	0.95
R1195:Cd28	UTSW	1	60,802,303 (GRCm39)	missense	possibly damaging	0.95
R1195:Cd28	UTSW	1	60,802,303 (GRCm39)	missense	possibly damaging	0.95
R4472:Cd28	UTSW	1	60,802,393 (GRCm39)	missense	probably benign	0.00
R4877:Cd28	UTSW	1	60,808,861 (GRCm39)	missense	possibly damaging	0.95
R6410:Cd28	UTSW	1	60,804,442 (GRCm39)	missense	probably benign	0.05
R7201:Cd28	UTSW	1	60,802,332 (GRCm39)	nonsense	probably null
R7421:Cd28	UTSW	1	60,802,459 (GRCm39)	missense	probably benign	0.20
R7544:Cd28	UTSW	1	60,808,859 (GRCm39)	missense	probably damaging	1.00
R7596:Cd28	UTSW	1	60,802,487 (GRCm39)	missense	possibly damaging	0.87
R8547:Cd28	UTSW	1	60,785,681 (GRCm39)	missense	probably benign	0.02
R8822:Cd28	UTSW	1	60,808,820 (GRCm39)	missense	possibly damaging	0.53
R9682:Cd28	UTSW	1	60,804,505 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16