Mutagenetix > Incidental Mutation

Incidental Mutation 'R6758:Cd96'

531118

Institutional Source

Beutler Lab

Gene Symbol

Cd96

Ensembl Gene

ENSMUSG00000022657

Gene Name

CD96 antigen

Synonyms

1700109I12Rik, Tactile

MMRRC Submission

044874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45856020-45940614 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45938367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 33 (V33L)

Ref Sequence

ENSEMBL: ENSMUSP00000023336 (fasta)

Gene Model

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

AlphaFold

Q3U0X8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023336
AA Change: V33L

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023336
Gene: ENSMUSG00000022657
AA Change: V33L

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	T	5: 90,411,172 (GRCm39)	D1374E	probably damaging	Het
Drd1	T	C	13: 54,207,308 (GRCm39)	E295G	probably benign	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm11595	C	A	11: 99,663,366 (GRCm39)	V105L	unknown	Het
Gm11595	A	T	11: 99,663,367 (GRCm39)	C104*	probably null	Het
Igsf3	T	C	3: 101,332,814 (GRCm39)	Y31H	probably damaging	Het
Ikzf2	A	T	1: 69,578,059 (GRCm39)	H483Q	probably damaging	Het
Itgbl1	A	G	14: 124,094,901 (GRCm39)	K309E	probably benign	Het
Myt1l	T	G	12: 29,892,599 (GRCm39)	Y79D	possibly damaging	Het
Nid2	T	A	14: 19,852,551 (GRCm39)	S1086R	probably damaging	Het
Or1o1	A	G	17: 37,716,586 (GRCm39)	D49G	probably damaging	Het
Or5h24	T	C	16: 58,919,328 (GRCm39)	E9G	probably damaging	Het
Or6c65	T	C	10: 129,603,920 (GRCm39)	I185T	probably damaging	Het
Rorc	A	G	3: 94,294,825 (GRCm39)	N51S	possibly damaging	Het
Sanbr	T	C	11: 23,538,475 (GRCm39)		probably null	Het
Simc1	C	T	13: 54,673,361 (GRCm39)	P570S	possibly damaging	Het
Smn1	T	A	13: 100,268,946 (GRCm39)	M264K	possibly damaging	Het
Tiam2	A	G	17: 3,568,678 (GRCm39)	D1608G	probably benign	Het
Tll1	C	A	8: 64,494,439 (GRCm39)		probably null	Het
Trim15	A	G	17: 37,173,233 (GRCm39)	L284P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCTCAGTTTCTGTGGCAGCC -3'
(R):5'- CCATCAGTGACCCTCAGTTAC -3'

Sequencing Primer
(F):5'- CACTTGTGACTCACAGGCATG -3'
(R):5'- GACCCTCAGTTACTTTTTGGACAGAC -3'

Posted On

2018-08-01