Mutagenetix > Incidental Mutation

Incidental Mutation 'R7355:Cd96'

570910

Institutional Source

Beutler Lab

Gene Symbol

Cd96

Ensembl Gene

ENSMUSG00000022657

Gene Name

CD96 antigen

Synonyms

1700109I12Rik, Tactile

MMRRC Submission

045441-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45856020-45940614 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45861655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 512 (T512A)

Ref Sequence

ENSEMBL: ENSMUSP00000023336 (fasta)

Gene Model

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

AlphaFold

Q3U0X8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023336
AA Change: T512A

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: T512A

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,486,621 (GRCm39)	R1469W	probably benign	Het
Acad10	G	T	5: 121,768,780 (GRCm39)	Y728*	probably null	Het
Adamts17	T	C	7: 66,725,052 (GRCm39)	V160A		Het
Astn1	A	T	1: 158,491,846 (GRCm39)		probably null	Het
Atp8a2	T	C	14: 60,282,453 (GRCm39)	K104E	possibly damaging	Het
Axl	T	C	7: 25,473,531 (GRCm39)	Y365C	probably benign	Het
Btbd16	A	T	7: 130,423,173 (GRCm39)	Y409F	probably benign	Het
Caln1	A	T	5: 130,443,732 (GRCm39)	T22S	probably benign	Het
Camk1	C	A	6: 113,315,307 (GRCm39)	G164C	probably damaging	Het
Ceacam5	A	G	7: 17,481,312 (GRCm39)	D353G	probably damaging	Het
Cep162	C	A	9: 87,136,008 (GRCm39)	E12*	probably null	Het
Cfh	A	T	1: 140,064,553 (GRCm39)	V365E	probably damaging	Het
Chd7	A	G	4: 8,752,196 (GRCm39)	H231R	unknown	Het
Cntnap3	T	C	13: 64,919,776 (GRCm39)	T694A	probably benign	Het
Colq	C	A	14: 31,267,066 (GRCm39)	G158V	probably damaging	Het
Ctif	G	A	18: 75,743,756 (GRCm39)	H139Y	probably damaging	Het
D630003M21Rik	A	T	2: 158,042,144 (GRCm39)	F934Y	probably damaging	Het
Dclre1a	T	A	19: 56,535,567 (GRCm39)	T6S	possibly damaging	Het
Dnmbp	T	C	19: 43,890,180 (GRCm39)	D529G	probably benign	Het
Fat2	T	A	11: 55,147,377 (GRCm39)	Q3955L	probably benign	Het
Gjd4	A	G	18: 9,280,860 (GRCm39)	S73P	probably damaging	Het
Gm19410	C	A	8: 36,274,226 (GRCm39)	Q1460K	probably benign	Het
Golga5	A	T	12: 102,438,494 (GRCm39)	I70F	possibly damaging	Het
Gon4l	T	A	3: 88,770,827 (GRCm39)	I502N	probably damaging	Het
Gtf2ird2	C	G	5: 134,245,491 (GRCm39)	A583G	probably benign	Het
Hectd1	A	C	12: 51,838,081 (GRCm39)	W694G	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,061 (GRCm39)	G185D	probably damaging	Het
Igfbp6	G	A	15: 102,056,375 (GRCm39)	A145T	probably benign	Het
Junb	C	T	8: 85,705,013 (GRCm39)	A16T	probably benign	Het
Kcnh4	C	T	11: 100,643,269 (GRCm39)	V333I	possibly damaging	Het
Ly6c1	T	C	15: 74,919,256 (GRCm39)	T45A	possibly damaging	Het
Mon2	T	A	10: 122,845,421 (GRCm39)	Q1428L	probably benign	Het
Nfatc2ip	C	T	7: 125,986,783 (GRCm39)		probably null	Het
Olfml3	C	A	3: 103,643,395 (GRCm39)	G329W	probably damaging	Het
Or10ag56	T	C	2: 87,139,754 (GRCm39)	V207A	probably benign	Het
Or10al2	A	G	17: 37,983,301 (GRCm39)	Y129C	probably benign	Het
Or6d15	T	A	6: 116,559,916 (GRCm39)		probably benign	Het
Or9g3	C	T	2: 85,584,023 (GRCm39)	P106L	probably benign	Het
Pcsk7	A	G	9: 45,820,672 (GRCm39)	M35V	probably benign	Het
Phf14	A	G	6: 12,081,006 (GRCm39)	N921S	probably benign	Het
Pla2g4e	G	A	2: 120,011,982 (GRCm39)	S396F	possibly damaging	Het
Ppp4r4	A	T	12: 103,570,841 (GRCm39)	K766*	probably null	Het
Pprc1	T	C	19: 46,053,785 (GRCm39)	V1105A	unknown	Het
Prdm9	T	G	17: 15,765,497 (GRCm39)	N428H	probably benign	Het
Prkcg	C	T	7: 3,372,025 (GRCm39)	T497I	possibly damaging	Het
Prkcz	A	G	4: 155,441,953 (GRCm39)	W60R	probably damaging	Het
Ptprn2	T	C	12: 116,822,571 (GRCm39)	F217L	probably benign	Het
Pum2	T	A	12: 8,763,906 (GRCm39)	Y283*	probably null	Het
Rest	A	G	5: 77,415,875 (GRCm39)	M30V	probably benign	Het
Rfxank	C	T	8: 70,587,957 (GRCm39)	R150H	probably damaging	Het
Ros1	T	A	10: 52,042,175 (GRCm39)	Q250L	probably damaging	Het
Sgk2	A	G	2: 162,854,987 (GRCm39)	D366G	probably benign	Het
Shoc1	T	C	4: 59,076,155 (GRCm39)	D596G	probably benign	Het
Siglec1	A	T	2: 130,922,371 (GRCm39)	L568Q	probably benign	Het
Slain1	AT	ATT	14: 103,940,012 (GRCm39)		probably null	Het
Slc10a5	A	T	3: 10,399,375 (GRCm39)	Y428*	probably null	Het
Slc25a54	T	C	3: 109,010,085 (GRCm39)	W195R	probably damaging	Het
Slf1	A	G	13: 77,239,422 (GRCm39)	I414T	probably damaging	Het
Snx4	C	T	16: 33,087,236 (GRCm39)	P127L	probably damaging	Het
Spdl1	A	T	11: 34,714,191 (GRCm39)	L166H	not run	Het
Tapt1	C	T	5: 44,334,459 (GRCm39)	V511I	probably benign	Het
Tbata	A	G	10: 61,010,099 (GRCm39)		probably benign	Het
Tbx4	T	A	11: 85,802,835 (GRCm39)	V264E	probably damaging	Het
Tecta	A	T	9: 42,278,438 (GRCm39)	Y1023*	probably null	Het
Thop1	A	G	10: 80,911,465 (GRCm39)	D117G	probably damaging	Het
Trip12	A	G	1: 84,792,604 (GRCm39)	L13P	probably damaging	Het
Tut7	T	C	13: 59,969,616 (GRCm39)	N93S	probably benign	Het
Unc13b	T	A	4: 43,237,754 (GRCm39)	V637E	probably damaging	Het
Vinac1	G	T	2: 128,879,149 (GRCm39)	Q926K	unknown	Het
Yipf3	T	A	17: 46,561,566 (GRCm39)	M168K	probably damaging	Het
Zfp119a	A	T	17: 56,173,287 (GRCm39)	C185*	probably null	Het
Zfyve21	A	T	12: 111,791,485 (GRCm39)	I157F	possibly damaging	Het
Zfyve26	A	T	12: 79,286,828 (GRCm39)	D2253E	probably 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
IGL01538:Cd96	APN	16	45,929,490 (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
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

Predicted Primers

PCR Primer
(F):5'- TTACCGGTCATCCCCAGTAGAC -3'
(R):5'- GCCTTGCTGTACCTAGATCTTTAG -3'

Sequencing Primer
(F):5'- GTAGACCAGAATCTGCCAGATGC -3'
(R):5'- ATGTAGAACCATTTCCTTAGCCCAG -3'

Posted On

2019-09-13