Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00162:Cd96'

846

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd96

Ensembl Gene

ENSMUSG00000022657

Gene Name

CD96 antigen

Synonyms

1700109I12Rik, Tactile

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00162

Quality Score

Status

Chromosome

Chromosomal Location

46035657-46120251 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46071799 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 275 (N275K)

Ref Sequence

ENSEMBL: ENSMUSP00000023336 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023336
AA Change: N275K

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: N275K

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C330021F23Rik	A	G	8: 3,583,904	T2A	probably benign	Het
Cc2d1b	T	G	4: 108,627,378	L470R	probably damaging	Het
Col22a1	A	G	15: 71,860,958		probably null	Het
Cyb561	T	C	11: 105,935,836	H197R	probably damaging	Het
Dlgap1	T	C	17: 70,516,085	S22P	probably benign	Het
Dnajc6	A	G	4: 101,508,089		probably benign	Het
Fgf6	A	T	6: 127,024,085	K185N	possibly damaging	Het
Fshr	T	C	17: 88,986,191	N353S	probably damaging	Het
Gabbr1	T	A	17: 37,048,443	Y103*	probably null	Het
Gm7247	G	A	14: 51,523,505	C177Y	possibly damaging	Het
Hikeshi	A	G	7: 89,935,781	F72L	probably damaging	Het
Ikzf4	T	C	10: 128,634,547	E368G	probably benign	Het
Kdm3b	A	G	18: 34,809,409	E851G	probably benign	Het
Kif3b	A	G	2: 153,317,131	D284G	probably damaging	Het
Kyat3	G	A	3: 142,734,474	A320T	probably benign	Het
Mok	C	T	12: 110,808,197		probably benign	Het
Mrgpra3	A	G	7: 47,589,519	F220L	probably benign	Het
Nr4a1	T	C	15: 101,270,899	V272A	probably damaging	Het
Olfr1124	A	G	2: 87,435,063	H192R	probably benign	Het
Olfr703	A	G	7: 106,845,367	Y252C	possibly damaging	Het
Pikfyve	T	A	1: 65,260,121		probably null	Het
Plekhn1	T	G	4: 156,223,363	T369P	probably damaging	Het
Ptpn12	T	C	5: 21,029,850	E45G	probably damaging	Het
Ralgps1	A	T	2: 33,137,682	*516R	probably null	Het
Senp6	A	G	9: 80,116,610	D385G	probably damaging	Het
Siglech	T	C	7: 55,772,591		probably benign	Het
Slit1	A	G	19: 41,650,835	L212P	probably damaging	Het
Smchd1	T	A	17: 71,465,673		probably benign	Het
Snapc4	A	T	2: 26,369,312	C609S	probably benign	Het
Strn3	T	C	12: 51,661,196	T139A	possibly damaging	Het
Tcaf3	T	C	6: 42,593,385	T478A	probably benign	Het
Tlr3	A	G	8: 45,400,690	S198P	probably damaging	Het
Ttn	C	T	2: 76,890,479		probably benign	Het
Vil1	G	A	1: 74,423,875	E406K	probably damaging	Het
Zfp462	A	G	4: 55,011,483		probably null	Het
Zfyve9	A	G	4: 108,642,107	V1338A	possibly damaging	Het

Other mutations in Cd96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-07-12