Mutagenetix > Incidental Mutations

Incidental Mutation 'R0655:Cd96'

62520

Institutional Source

Beutler Lab

Gene Symbol

Cd96

Ensembl Gene

ENSMUSG00000022657

Gene Name

CD96 antigen

Synonyms

1700109I12Rik, Tactile

MMRRC Submission

038840-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0655 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

46035657-46120251 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46099119 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 180 (K180E)

Ref Sequence

ENSEMBL: ENSMUSP00000023336 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023336
AA Change: K180E

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: K180E

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: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	C	17: 35,957,845	I757M	probably benign	Het
Atg16l1	T	A	1: 87,766,829	I76N	probably damaging	Het
Baz1b	T	A	5: 135,242,430	I1289N	probably benign	Het
Bcl2l15	T	A	3: 103,832,969		probably null	Het
Btbd11	A	G	10: 85,645,526	T931A	probably damaging	Het
Cbl	G	T	9: 44,158,752	T566K	probably damaging	Het
Cbwd1	T	C	19: 24,953,320	M122V	possibly damaging	Het
Cpxm2	G	A	7: 132,054,820	T571I	possibly damaging	Het
Cyp2a12	A	T	7: 27,036,621	Y485F	probably benign	Het
Cyp4f17	T	A	17: 32,524,897	Y350N	possibly damaging	Het
Dstn	T	A	2: 143,938,422	I14N	probably damaging	Het
Eea1	A	G	10: 95,995,598	S184G	probably benign	Het
Eif1a	G	T	18: 46,608,063	G122C	probably damaging	Het
Esf1	T	A	2: 140,148,879	T562S	probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Fig4	T	C	10: 41,285,677	N30S	probably damaging	Het
Gria2	C	A	3: 80,732,070	E212*	probably null	Het
Gsdmc2	C	T	15: 63,827,773	A269T	probably benign	Het
Herc4	T	C	10: 63,273,571	V195A	probably benign	Het
Hivep1	T	C	13: 42,167,585	S2123P	probably damaging	Het
Hspa4	T	C	11: 53,269,692	E519G	probably benign	Het
Htr2b	A	G	1: 86,110,843	S14P	probably benign	Het
Ifit1	T	C	19: 34,647,647	V61A	probably damaging	Het
Ifitm1	C	A	7: 140,969,536	F77L	probably benign	Het
Matn2	T	C	15: 34,345,200	S118P	probably benign	Het
Mtmr3	C	A	11: 4,488,610	D615Y	probably damaging	Het
Mtss1	C	A	15: 59,081,502	C9F	probably damaging	Het
Muc5b	A	T	7: 141,863,942	I3542F	probably benign	Het
Nwd2	T	C	5: 63,791,585	S167P	possibly damaging	Het
Olfr394	T	C	11: 73,887,805	D189G	possibly damaging	Het
Olfr694	A	T	7: 106,689,425	F102Y	probably damaging	Het
Olfr921	C	T	9: 38,775,554	Q100*	probably null	Het
Oscp1	T	C	4: 126,058,733	L18P	probably damaging	Het
Pax5	A	G	4: 44,537,462	S297P	probably damaging	Het
Phldb3	A	T	7: 24,624,372	D476V	probably benign	Het
Phlpp2	A	T	8: 109,895,587	I154L	probably benign	Het
Prx	T	A	7: 27,517,421	V449E	probably damaging	Het
Psd3	A	G	8: 67,963,689	S519P	probably benign	Het
Rnf138	T	G	18: 21,010,783	V128G	probably benign	Het
Safb	T	A	17: 56,597,803	S209T	probably benign	Het
Sbno1	C	A	5: 124,376,149	V1327L	possibly damaging	Het
Scarb1	A	G	5: 125,300,440	V176A	probably damaging	Het
Scd4	A	G	19: 44,338,968	H161R	possibly damaging	Het
Selenoo	T	A	15: 89,095,655	H335Q	probably damaging	Het
Slfn8	A	G	11: 83,003,821	F664S	probably benign	Het
Spef2	T	C	15: 9,626,131	I1116M	possibly damaging	Het
Taf2	G	A	15: 55,038,294	R835W	probably damaging	Het
Tdrd9	A	G	12: 112,040,465	E921G	probably damaging	Het
Tectb	G	A	19: 55,189,870	G234S	possibly damaging	Het
Tmc1	C	T	19: 20,799,176	M606I	probably damaging	Het
Tmed10	T	A	12: 85,343,517	I88F	probably damaging	Het
Tnfrsf11a	G	A	1: 105,808,155	V31I	unknown	Het
Trp53inp2	G	T	2: 155,386,168	G98*	probably null	Het
Tssc4	A	G	7: 143,070,045	D30G	probably damaging	Het
Uaca	T	C	9: 60,872,029	Y1233H	probably benign	Het
Unc13c	G	A	9: 73,930,953	T872I	probably damaging	Het
Unc80	A	G	1: 66,503,781	H398R	probably damaging	Het
Vmn1r64	G	A	7: 5,884,208	T112I	probably benign	Het
Vmn1r85	A	G	7: 13,084,723	Y165H	probably damaging	Het
Vmn2r72	A	T	7: 85,738,111	C748*	probably null	Het
Wdr17	A	G	8: 54,649,198	W929R	probably damaging	Het
Yeats2	A	T	16: 20,193,824	K591*	probably null	Het
Zbtb9	T	A	17: 26,974,100	S160T	probably damaging	Het
Znfx1	T	A	2: 167,056,907	R32S	probably damaging	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
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
R5934:Cd96	UTSW	16	46117903	missense	probably benign	0.43
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'- GCAAGAGAATGTCCTGCCATCGTC -3'
(R):5'- TGCCATGAAAGCAAGACCCGTTTAG -3'

Sequencing Primer
(F):5'- CCATCGTCTTGGATTTGGACTG -3'
(R):5'- aagtccctgttgctcttcc -3'

Posted On

2013-07-30