Mutagenetix > Incidental Mutations

Incidental Mutation 'R5934:Cd96'

462136

Institutional Source

Beutler Lab

Gene Symbol

Cd96

Ensembl Gene

ENSMUSG00000022657

Gene Name

CD96 antigen

Synonyms

1700109I12Rik, Tactile

MMRRC Submission

044128-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46035657-46120251 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46117903 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 66 (D66E)

Ref Sequence

ENSEMBL: ENSMUSP00000023336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023336]

Predicted Effect

probably benign
Transcript: ENSMUST00000023336
AA Change: D66E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: D66E

Domain	Start	End	E-Value	Type
IG	30	137	1.63e-3	SMART
IG	145	247	1.12e-1	SMART
Blast:IG_like	257	357	3e-14	BLAST
low complexity region	434	448	N/A	INTRINSIC
transmembrane domain	535	557	N/A	INTRINSIC
low complexity region	571	580	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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 belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,930,806	V596A	probably benign	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Afg1l	G	A	10: 42,318,686	T370M	probably damaging	Het
Aldh2	T	C	5: 121,579,615	T118A	probably benign	Het
Apcdd1	C	T	18: 62,951,869	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,978,874		probably benign	Het
Cdh5	T	A	8: 104,138,268	V506E	probably benign	Het
Cep70	T	C	9: 99,254,265	I7T	probably benign	Het
Ckb	A	T	12: 111,670,229	V237D	probably damaging	Het
Col6a6	C	T	9: 105,767,075	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
D1Ertd622e	A	T	1: 97,645,930	C137S	possibly damaging	Het
Ddhd2	A	G	8: 25,753,113	S19P	probably damaging	Het
Dnah17	G	T	11: 118,041,102	D3681E	probably benign	Het
Dopey1	T	A	9: 86,542,442	Y2068*	probably null	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Fryl	T	C	5: 73,090,717	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,986,748	C4275Y	possibly damaging	Het
Gapdh	A	G	6: 125,162,701	V202A	probably damaging	Het
Gm8394	T	C	10: 85,314,281		noncoding transcript	Het
Gmeb2	T	C	2: 181,255,574	I250M	possibly damaging	Het
Gpr88	C	T	3: 116,252,309	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,499,370	V190L	possibly damaging	Het
Heg1	C	T	16: 33,726,919	T461M	probably damaging	Het
Hspg2	A	G	4: 137,518,772	Y989C	probably damaging	Het
Ift74	A	T	4: 94,632,734	M175L	probably benign	Het
Kcnh3	G	A	15: 99,226,533	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,941,321	V702F	probably benign	Het
Klhl1	A	G	14: 96,123,215		probably null	Het
Lrrk2	T	C	15: 91,734,046	V916A	probably benign	Het
Mpp4	A	T	1: 59,121,376	D589E	probably damaging	Het
Msl2	T	C	9: 101,101,818	C464R	probably damaging	Het
Mucl2	A	T	15: 103,897,566	S42T	probably benign	Het
Musk	T	A	4: 58,373,613	L838Q	probably damaging	Het
Nos1	A	G	5: 117,936,445	H1052R	probably damaging	Het
Olfr1151	T	C	2: 87,857,241	V22A	probably benign	Het
Olfr1420	A	G	19: 11,896,929	R303G	probably benign	Het
Olfr352	T	A	2: 36,870,268	I234N	probably benign	Het
Olfr463	T	C	11: 87,893,223	R234G	possibly damaging	Het
Olfr52	T	A	2: 86,182,102	Q3L	probably benign	Het
Olfr521	A	T	7: 99,767,389	I76F	probably damaging	Het
Olfr672	C	A	7: 104,996,178	C242F	probably damaging	Het
Olfr683	G	A	7: 105,143,660	S211F	probably benign	Het
Olfr960	C	T	9: 39,623,183	T20I	probably damaging	Het
Pard3	T	G	8: 127,389,338	L636R	probably damaging	Het
Pigr	A	T	1: 130,844,527	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,150,084	V1992E	probably damaging	Het
Ptpdc1	T	C	13: 48,586,369	K468E	probably benign	Het
Rab22a	A	G	2: 173,661,504	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,159	K571I	probably damaging	Het
Reck	G	A	4: 43,930,979	G660D	probably damaging	Het
Rgs4	T	C	1: 169,745,238	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,584,154	D4645E	probably damaging	Het
Sf3b3	A	G	8: 110,823,470	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,811,660	R430L	probably damaging	Het
Slfn1	T	A	11: 83,121,944	Y295*	probably null	Het
Slfn5	C	T	11: 82,956,592	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,559,770		probably null	Het
Tchh	A	T	3: 93,444,112	Q286H	unknown	Het
Tmem184c	A	T	8: 77,604,723	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,418,826	M833R	possibly damaging	Het
Ugt1a7c	G	T	1: 88,095,879	L253F	probably damaging	Het
Usp19	C	T	9: 108,492,567		probably benign	Het
Xirp2	T	A	2: 67,524,804	I3303K	possibly damaging	Het
Zfp574	G	A	7: 25,080,332	A260T	probably benign	Het
Zswim6	A	G	13: 107,744,107		noncoding transcript	Het

Other mutations in Cd96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Cd96	APN	16	46071799	missense	possibly damaging	0.85
IGL00588:Cd96	APN	16	46038554	missense	probably benign	0.04
IGL00916:Cd96	APN	16	46041312	missense	probably benign	0.07
IGL01080:Cd96	APN	16	46049693	missense	possibly damaging	0.67
IGL01538:Cd96	APN	16	46109127	missense	possibly damaging	0.67
IGL02350:Cd96	APN	16	46069776	splice site	probably benign
IGL02357:Cd96	APN	16	46069776	splice site	probably benign
IGL02892:Cd96	APN	16	46049797	critical splice acceptor site	probably null
R0119:Cd96	UTSW	16	46038579	splice site	probably benign
R0242:Cd96	UTSW	16	46071766	missense	possibly damaging	0.88
R0242:Cd96	UTSW	16	46071766	missense	possibly damaging	0.88
R0515:Cd96	UTSW	16	46063905	splice site	probably benign
R0655:Cd96	UTSW	16	46099119	missense	probably benign	0.06
R0684:Cd96	UTSW	16	46117790	missense	possibly damaging	0.96
R0838:Cd96	UTSW	16	46117926	missense	probably damaging	1.00
R1531:Cd96	UTSW	16	46117806	missense	probably benign	0.03
R1664:Cd96	UTSW	16	46118001	missense	possibly damaging	0.95
R1791:Cd96	UTSW	16	46117999	nonsense	probably null
R1840:Cd96	UTSW	16	46099092	missense	probably benign	0.36
R1873:Cd96	UTSW	16	46117972	missense	probably damaging	1.00
R2895:Cd96	UTSW	16	46117805	missense	probably benign	0.43
R2906:Cd96	UTSW	16	46051487	missense	possibly damaging	0.56
R4291:Cd96	UTSW	16	46071749	missense	probably damaging	0.98
R5112:Cd96	UTSW	16	46098938	missense	probably benign
R5261:Cd96	UTSW	16	46069653	missense	probably benign	0.39
R5274:Cd96	UTSW	16	46069703	missense	possibly damaging	0.78
R6002:Cd96	UTSW	16	46117986	missense	possibly damaging	0.61
R6758:Cd96	UTSW	16	46118004	missense	possibly damaging	0.50
R6992:Cd96	UTSW	16	46049724	missense	possibly damaging	0.65
R7239:Cd96	UTSW	16	46109114	missense	probably damaging	1.00
R7308:Cd96	UTSW	16	46071734	critical splice donor site	probably null
R7316:Cd96	UTSW	16	46069653	missense	probably benign	0.39
R7355:Cd96	UTSW	16	46041292	missense	possibly damaging	0.51
R7553:Cd96	UTSW	16	46052021	missense	probably damaging	1.00
R7878:Cd96	UTSW	16	46117776	missense	probably damaging	1.00
R7921:Cd96	UTSW	16	46038480	frame shift	probably null
X0017:Cd96	UTSW	16	46049774	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTCACAGGGTTCCACAATGAG -3'
(R):5'- GGCATGTGTCAACAATTTCTTCTAC -3'

Sequencing Primer
(F):5'- AGTCTTGATGCCTTCTGGATAC -3'
(R):5'- CACACAGTGTGCAACCTATAGGG -3'

Posted On

2017-02-28