Mutagenetix > Incidental Mutations

Incidental Mutation 'R7308:Cd96'

567419

Institutional Source

Beutler Lab

Gene Symbol

Cd96

Ensembl Gene

ENSMUSG00000022657

Gene Name

CD96 antigen

Synonyms

1700109I12Rik, Tactile

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46035657-46120251 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 46071734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023336 (fasta)

Gene Model

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

AlphaFold

Q3U0X8

Predicted Effect

probably null
Transcript: ENSMUST00000023336

SMART Domains

Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,423,770	I43T	probably benign	Het
Ankar	G	A	1: 72,651,794	Q1175*	probably null	Het
Aqr	G	A	2: 114,104,062	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 80,026,558		probably null	Het
Atf7ip	T	A	6: 136,565,089	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,888,152		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,888,169		probably benign	Het
Bcar3	T	A	3: 122,508,493	V279E	probably benign	Het
Cdca2	G	A	14: 67,694,991	P488S	probably benign	Het
Col4a2	T	G	8: 11,406,856		probably null	Het
Cyp4a12a	A	G	4: 115,327,758	R379G	possibly damaging	Het
Defb34	A	G	8: 19,126,379	S29G	probably benign	Het
Dnah11	A	G	12: 117,995,275	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,665,162	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,151,866	H84L	probably benign	Het
Enah	A	T	1: 181,906,385		probably null	Het
Fam178b	G	T	1: 36,659,407	Q78K	probably benign	Het
Glb1	A	G	9: 114,473,863	N589S	probably damaging	Het
Gm1527	C	T	3: 28,902,280	H132Y	probably benign	Het
Gm4788	A	G	1: 139,754,303	V185A	possibly damaging	Het
Gm4858	A	G	3: 93,074,565	T223A	probably benign	Het
Gm5799	A	G	14: 43,543,707	R22G	possibly damaging	Het
Grip2	T	C	6: 91,778,688	D617G	possibly damaging	Het
Hax1	A	T	3: 89,998,566	D5E	possibly damaging	Het
Hic1	A	G	11: 75,167,151	L304P	probably damaging	Het
Hmox1	T	A	8: 75,097,019	I105N	probably damaging	Het
Hormad1	T	C	3: 95,562,555	S38P	probably damaging	Het
Hspa4	A	G	11: 53,267,103	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,174,729	H497L	probably benign	Het
Kcnma1	C	T	14: 23,330,935	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,900,463	F479S	possibly damaging	Het
Krba1	T	C	6: 48,406,339	V203A	probably benign	Het
Lct	G	T	1: 128,319,087	P233Q	probably benign	Het
Ly75	T	C	2: 60,334,515	D773G	probably benign	Het
Malt1	T	C	18: 65,449,609		probably null	Het
Man1a2	A	T	3: 100,620,105	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,082,928	T584A	probably benign	Het
Myof	A	T	19: 37,910,911	S1800R	probably damaging	Het
Nbea	A	C	3: 56,091,031	C118W	probably damaging	Het
Nsd3	A	T	8: 25,640,724	D35V	probably damaging	Het
Olfr1386	G	A	11: 49,469,927		probably benign	Het
Olfr739	G	A	14: 50,425,265	V249I	possibly damaging	Het
Pcnx3	C	T	19: 5,686,147	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,323,173	P462L	probably benign	Het
Pdia5	T	G	16: 35,456,509	K96N	probably damaging	Het
Pik3c2a	T	C	7: 116,373,839	Y707C	probably damaging	Het
Ppig	A	T	2: 69,749,462	N447Y	unknown	Het
Ppp1r9b	T	C	11: 95,004,571	L695P	possibly damaging	Het
Proser1	C	T	3: 53,478,704	A669V	probably benign	Het
Rdx	A	T	9: 52,068,870	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,798,010	S95P	probably benign	Het
Slc4a3	T	A	1: 75,557,362	S1118T	probably benign	Het
Slf1	G	A	13: 77,051,168	P698L	probably benign	Het
Sptbn2	A	G	19: 4,751,574	E2338G	probably benign	Het
Taok3	T	A	5: 117,200,151	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,952,816	L649F	probably damaging	Het
Tmem132b	A	T	5: 125,787,646	I939F	possibly damaging	Het
Trav17	T	A	14: 53,806,979	Y69N	probably benign	Het
Trmt13	T	C	3: 116,594,739	D16G	probably benign	Het
Upf2	T	A	2: 5,973,518	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875	T180A	probably benign	Het
Wdyhv1	T	C	15: 58,152,610	V85A	possibly damaging	Het
Zfp738	A	T	13: 67,669,553	I773N	probably benign	Het
Zscan4e	A	T	7: 11,307,153	M264K	probably benign	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
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
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
R8924:Cd96	UTSW	16	46099022	missense	probably damaging	1.00
R9089:Cd96	UTSW	16	46049705	missense	probably benign	0.23
R9295:Cd96	UTSW	16	46117881	missense	probably benign	0.38
R9433:Cd96	UTSW	16	46035935	missense	probably damaging	1.00
X0017:Cd96	UTSW	16	46049774	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAAAATGTTGCCTTCTACCCC -3'
(R):5'- AAAGCCCTTGTGTGTCCTGTG -3'

Sequencing Primer
(F):5'- TTCTACCCCCTTGGAGGAACAAG -3'
(R):5'- TCCTGTGCTCGGGTAAAGGTAAAC -3'

Posted On

2019-06-26