Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Cd96'

90077

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd96

Ensembl Gene

ENSMUSG00000022657

Gene Name

CD96 antigen

Synonyms

1700109I12Rik, Tactile

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

45856020-45940614 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45929490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 152 (T152A)

Ref Sequence

ENSEMBL: ENSMUSP00000023336 (fasta)

Gene Model

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

AlphaFold

Q3U0X8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023336
AA Change: T152A

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: T152A

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,032 (GRCm39)		noncoding transcript	Het
Abca3	G	T	17: 24,595,447 (GRCm39)	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 25,102,495 (GRCm39)	N323D	possibly damaging	Het
Atp5f1c	T	C	2: 10,073,477 (GRCm39)	Y32C	probably damaging	Het
Capn3	T	G	2: 120,332,667 (GRCm39)		probably null	Het
Ccdc113	C	A	8: 96,277,866 (GRCm39)	D275E	probably benign	Het
Ccdc40	T	A	11: 119,133,545 (GRCm39)	F562I	possibly damaging	Het
Ccn6	A	G	10: 39,034,306 (GRCm39)	Y99H	probably damaging	Het
Cdh20	T	A	1: 109,988,870 (GRCm39)	D257E	probably damaging	Het
Cilp2	T	C	8: 70,333,854 (GRCm39)	D1048G	probably benign	Het
Clrn2	T	G	5: 45,617,408 (GRCm39)	L93R	probably damaging	Het
Crat	C	A	2: 30,299,978 (GRCm39)	G134V	probably damaging	Het
Dis3	A	T	14: 99,335,181 (GRCm39)	N140K	probably benign	Het
Dmxl2	T	A	9: 54,352,660 (GRCm39)		probably benign	Het
Dus1l	T	A	11: 120,683,905 (GRCm39)	Q181L	probably damaging	Het
Ece1	A	G	4: 137,675,855 (GRCm39)	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,047 (GRCm39)	H90L	probably damaging	Het
Gpr152	T	A	19: 4,192,951 (GRCm39)	V164E	probably damaging	Het
Grik3	A	C	4: 125,587,829 (GRCm39)	I650L	possibly damaging	Het
Gvin3	T	C	7: 106,201,744 (GRCm39)	D500G	probably damaging	Het
Gzmm	A	T	10: 79,530,896 (GRCm39)	T233S	probably benign	Het
H2-Q4	T	A	17: 35,602,288 (GRCm39)	V341D	probably benign	Het
Igsf21	A	G	4: 139,755,029 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,758,538 (GRCm39)		probably benign	Het
Kntc1	T	G	5: 123,919,721 (GRCm39)	V864G	probably damaging	Het
Lnx1	T	C	5: 74,780,816 (GRCm39)	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,824,059 (GRCm39)	K985N	probably benign	Het
Map4k1	C	A	7: 28,701,044 (GRCm39)	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,319 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,093 (GRCm39)	Y178*	probably null	Het
Mrpl11	T	A	19: 5,013,449 (GRCm39)		probably null	Het
Nup85	T	C	11: 115,460,540 (GRCm39)	S140P	possibly damaging	Het
Or14c44	T	C	7: 86,062,167 (GRCm39)	L199P	possibly damaging	Het
Or1j20	T	C	2: 36,760,532 (GRCm39)		probably benign	Het
Or4k51	T	A	2: 111,585,350 (GRCm39)	V252E	probably damaging	Het
Or5w16	T	C	2: 87,576,942 (GRCm39)	V134A	probably benign	Het
Pcdhb2	T	A	18: 37,428,375 (GRCm39)	L116*	probably null	Het
Pdcd7	C	A	9: 65,253,985 (GRCm39)	R188S	probably damaging	Het
Pdk2	T	C	11: 94,918,111 (GRCm39)	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,069,882 (GRCm39)	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,478,364 (GRCm39)	Y169N	probably damaging	Het
Prcp	A	C	7: 92,559,421 (GRCm39)	T162P	probably benign	Het
Prkd1	A	G	12: 50,388,925 (GRCm39)	S873P	probably benign	Het
Ptpn2	T	C	18: 67,814,623 (GRCm39)	T129A	probably benign	Het
Rtkn	G	A	6: 83,123,042 (GRCm39)	R68H	probably damaging	Het
Sall4	C	T	2: 168,597,776 (GRCm39)	D355N	probably damaging	Het
Scn7a	A	G	2: 66,534,196 (GRCm39)	V493A	probably benign	Het
Sema4b	G	A	7: 79,865,444 (GRCm39)	A140T	probably damaging	Het
Shisa6	C	A	11: 66,108,654 (GRCm39)	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,153,589 (GRCm39)	V197F	probably damaging	Het
Spata2	A	T	2: 167,326,071 (GRCm39)	D249E	probably damaging	Het
Stk36	T	A	1: 74,672,797 (GRCm39)	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,610,899 (GRCm39)	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,365,409 (GRCm39)	V185D	possibly damaging	Het
Tgm7	T	A	2: 120,937,396 (GRCm39)	Y76F	probably benign	Het
Tph1	T	C	7: 46,303,177 (GRCm39)	Y267C	probably damaging	Het
Trgv1	G	A	13: 19,520,740 (GRCm39)		probably benign	Het
Ube2d1	A	G	10: 71,091,656 (GRCm39)		probably benign	Het
Vmn2r12	C	A	5: 109,239,716 (GRCm39)	R282S	probably damaging	Het
Vps4a	A	G	8: 107,763,556 (GRCm39)	D72G	probably benign	Het
Wipf2	T	A	11: 98,781,629 (GRCm39)	V56D	possibly damaging	Het
Zfp750	C	A	11: 121,402,991 (GRCm39)	V586L	probably benign	Het
Zfp831	A	G	2: 174,486,399 (GRCm39)	E358G	possibly damaging	Het

Other mutations in Cd96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Cd96	APN	16	45,892,162 (GRCm39)	missense	possibly damaging	0.85
IGL00588:Cd96	APN	16	45,858,917 (GRCm39)	missense	probably benign	0.04
IGL00916:Cd96	APN	16	45,861,675 (GRCm39)	missense	probably benign	0.07
IGL01080:Cd96	APN	16	45,870,056 (GRCm39)	missense	possibly damaging	0.67
IGL02350:Cd96	APN	16	45,890,139 (GRCm39)	splice site	probably benign
IGL02357:Cd96	APN	16	45,890,139 (GRCm39)	splice site	probably benign
IGL02892:Cd96	APN	16	45,870,160 (GRCm39)	critical splice acceptor site	probably null
R0119:Cd96	UTSW	16	45,858,942 (GRCm39)	splice site	probably benign
R0242:Cd96	UTSW	16	45,892,129 (GRCm39)	missense	possibly damaging	0.88
R0242:Cd96	UTSW	16	45,892,129 (GRCm39)	missense	possibly damaging	0.88
R0515:Cd96	UTSW	16	45,884,268 (GRCm39)	splice site	probably benign
R0655:Cd96	UTSW	16	45,919,482 (GRCm39)	missense	probably benign	0.06
R0684:Cd96	UTSW	16	45,938,153 (GRCm39)	missense	possibly damaging	0.96
R0838:Cd96	UTSW	16	45,938,289 (GRCm39)	missense	probably damaging	1.00
R1531:Cd96	UTSW	16	45,938,169 (GRCm39)	missense	probably benign	0.03
R1664:Cd96	UTSW	16	45,938,364 (GRCm39)	missense	possibly damaging	0.95
R1791:Cd96	UTSW	16	45,938,362 (GRCm39)	nonsense	probably null
R1840:Cd96	UTSW	16	45,919,455 (GRCm39)	missense	probably benign	0.36
R1873:Cd96	UTSW	16	45,938,335 (GRCm39)	missense	probably damaging	1.00
R2895:Cd96	UTSW	16	45,938,168 (GRCm39)	missense	probably benign	0.43
R2906:Cd96	UTSW	16	45,871,850 (GRCm39)	missense	possibly damaging	0.56
R4291:Cd96	UTSW	16	45,892,112 (GRCm39)	missense	probably damaging	0.98
R5112:Cd96	UTSW	16	45,919,301 (GRCm39)	missense	probably benign
R5261:Cd96	UTSW	16	45,890,016 (GRCm39)	missense	probably benign	0.39
R5274:Cd96	UTSW	16	45,890,066 (GRCm39)	missense	possibly damaging	0.78
R5934:Cd96	UTSW	16	45,938,266 (GRCm39)	missense	probably benign	0.43
R6002:Cd96	UTSW	16	45,938,349 (GRCm39)	missense	possibly damaging	0.61
R6758:Cd96	UTSW	16	45,938,367 (GRCm39)	missense	possibly damaging	0.50
R6992:Cd96	UTSW	16	45,870,087 (GRCm39)	missense	possibly damaging	0.65
R7239:Cd96	UTSW	16	45,929,477 (GRCm39)	missense	probably damaging	1.00
R7308:Cd96	UTSW	16	45,892,097 (GRCm39)	critical splice donor site	probably null
R7316:Cd96	UTSW	16	45,890,016 (GRCm39)	missense	probably benign	0.39
R7355:Cd96	UTSW	16	45,861,655 (GRCm39)	missense	possibly damaging	0.51
R7553:Cd96	UTSW	16	45,872,384 (GRCm39)	missense	probably damaging	1.00
R7878:Cd96	UTSW	16	45,938,139 (GRCm39)	missense	probably damaging	1.00
R7921:Cd96	UTSW	16	45,858,843 (GRCm39)	frame shift	probably null
R8924:Cd96	UTSW	16	45,919,385 (GRCm39)	missense	probably damaging	1.00
R9089:Cd96	UTSW	16	45,870,068 (GRCm39)	missense	probably benign	0.23
R9295:Cd96	UTSW	16	45,938,244 (GRCm39)	missense	probably benign	0.38
R9433:Cd96	UTSW	16	45,856,298 (GRCm39)	missense	probably damaging	1.00
R9695:Cd96	UTSW	16	45,919,410 (GRCm39)	missense	probably damaging	0.96
X0017:Cd96	UTSW	16	45,870,137 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-12-03