Mutagenetix > Incidental Mutations

Incidental Mutation 'R4748:Cd6'

357345

Institutional Source

Beutler Lab

Gene Symbol

Cd6

Ensembl Gene

ENSMUSG00000024670

Gene Name

CD6 antigen

Synonyms

MMRRC Submission

042030-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10789341-10830058 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 10794225 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 433 (S433*)

Ref Sequence

ENSEMBL: ENSMUSP00000079172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039043] [ENSMUST00000080292] [ENSMUST00000174176]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000025572

Predicted Effect

probably null
Transcript: ENSMUST00000039043
AA Change: S433*

SMART Domains

Protein: ENSMUSP00000046861
Gene: ENSMUSG00000024670
AA Change: S433*

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SR	45	155	7.33e-9	SMART
SR	160	259	8.68e-52	SMART
SR	264	360	3.51e-29	SMART
low complexity region	383	394	N/A	INTRINSIC
transmembrane domain	400	422	N/A	INTRINSIC
low complexity region	569	582	N/A	INTRINSIC
low complexity region	611	623	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000080292
AA Change: S433*

SMART Domains

Protein: ENSMUSP00000079172
Gene: ENSMUSG00000024670
AA Change: S433*

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SR	45	155	7.33e-9	SMART
SR	160	259	8.68e-52	SMART
SR	264	360	3.51e-29	SMART
low complexity region	383	394	N/A	INTRINSIC
transmembrane domain	400	422	N/A	INTRINSIC
low complexity region	473	481	N/A	INTRINSIC
low complexity region	608	621	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173613

Predicted Effect

probably benign
Transcript: ENSMUST00000174176

SMART Domains

Protein: ENSMUSP00000134639
Gene: ENSMUSG00000024670

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SR	45	155	7.33e-9	SMART
SR	160	259	8.68e-52	SMART
low complexity region	282	293	N/A	INTRINSIC
transmembrane domain	299	321	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced susceptibility to insteinal ischemia/reperfusion induced injury due to reduced IgM-producing B1a cell self-renewal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,856,656	E54D	possibly damaging	Het
4933415F23Rik	T	C	1: 23,101,870	E121G	probably damaging	Het
Abcb6	C	A	1: 75,177,358	G367W	probably damaging	Het
Asprv1	A	G	6: 86,628,423	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,701,507	V291A	probably damaging	Het
B4galnt4	T	C	7: 141,071,720	F980L	probably damaging	Het
Bpi	G	A	2: 158,272,021	V280I	possibly damaging	Het
Bptf	T	C	11: 107,095,880	D581G	probably damaging	Het
Cap2	T	A	13: 46,639,826	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 77,057,980	I480M	possibly damaging	Het
Ccnh	T	A	13: 85,189,639	V35E	probably benign	Het
Ceacam10	A	C	7: 24,781,052	I83L	probably benign	Het
Chek2	T	C	5: 110,855,839		probably null	Het
Chia1	A	T	3: 106,122,449	D73V	probably damaging	Het
Commd2	G	A	3: 57,646,794	T162I	probably benign	Het
Creb3l3	C	T	10: 81,086,047	A316T	probably benign	Het
Cul4a	A	G	8: 13,123,526	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,016,737		probably null	Het
D630045J12Rik	T	C	6: 38,196,841	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,550,236	K295N	probably damaging	Het
Dnah1	A	G	14: 31,319,945	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,642,651	D275G	probably damaging	Het
Enam	C	A	5: 88,501,543	P304T	probably damaging	Het
Enpep	A	G	3: 129,332,163	Y107H	probably damaging	Het
Exd2	T	C	12: 80,480,576	L27P	probably damaging	Het
Fam135b	T	A	15: 71,464,055	D430V	probably benign	Het
Fam222b	C	T	11: 78,154,603	T202I	possibly damaging	Het
Fmod	T	A	1: 134,041,174	N317K	probably damaging	Het
Frem2	A	G	3: 53,541,093	F2301L	probably damaging	Het
Frem3	T	C	8: 80,611,459	F127S	probably damaging	Het
Gbp7	A	G	3: 142,538,087	S132G	probably benign	Het
Gm4787	A	G	12: 81,378,056	C443R	probably damaging	Het
Grik2	T	C	10: 49,535,341	M5V	possibly damaging	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt90	G	A	15: 101,555,333	L429F	probably damaging	Het
Lrr1	C	A	12: 69,174,462	T126K	probably benign	Het
Mgat4e	C	A	1: 134,542,028	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,840,781	S343R	possibly damaging	Het
Mms19	T	A	19: 41,944,558	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,411,650	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,473,056	L408Q	probably damaging	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr1163	T	A	2: 88,070,612	I257L	probably benign	Het
Olfr1238	C	T	2: 89,406,255	V275I	probably benign	Het
Olfr273	A	G	4: 52,856,076	S146P	possibly damaging	Het
Olfr738	T	G	14: 50,413,876	L111V	possibly damaging	Het
Otud7a	T	C	7: 63,735,915	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,774,269	K196*	probably null	Het
Paqr8	T	A	1: 20,935,413	C264S	probably benign	Het
Pgm2	T	A	4: 99,981,979	F459Y	probably benign	Het
Phip	C	A	9: 82,908,869	V675L	probably benign	Het
Pnma1	T	G	12: 84,147,723	T69P	probably benign	Het
Ptpn12	A	T	5: 21,005,385	C242*	probably null	Het
Rabep1	T	A	11: 70,908,468	V306E	probably benign	Het
Ros1	C	T	10: 52,115,997	D1377N	probably benign	Het
Ryr3	T	C	2: 112,964,405	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,420,421	Q421*	probably null	Het
Shcbp1	G	A	8: 4,744,512	T427M	probably damaging	Het
Shprh	G	A	10: 11,170,476	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,925,876	C163Y	probably benign	Het
Slc27a1	A	G	8: 71,580,675	D287G	probably damaging	Het
Slc27a1	C	T	8: 71,580,809	T310M	possibly damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc35f2	A	T	9: 53,771,785	M1L	probably benign	Het
Sltm	G	C	9: 70,581,365	R599T	probably damaging	Het
Spic	T	A	10: 88,675,890	Q168L	probably damaging	Het
Spink6	G	A	18: 44,082,361		probably null	Het
Stac2	T	C	11: 98,041,372	E235G	possibly damaging	Het
Szt2	G	A	4: 118,389,191	Q957*	probably null	Het
Them7	A	T	2: 105,378,646	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,271,716	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,236,890	E178G	probably benign	Het
Tomm40l	G	A	1: 171,219,562	R296*	probably null	Het
Trim80	C	A	11: 115,448,138	T598N	possibly damaging	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Vil1	C	T	1: 74,421,266	A194V	probably damaging	Het
Vmn2r61	A	T	7: 42,267,141	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Vps33b	G	T	7: 80,290,048	A516S	probably damaging	Het
Wisp1	C	A	15: 66,906,640	Y103*	probably null	Het
Zc3h6	G	A	2: 129,002,240	G235R	probably damaging	Het
Zfp612	T	A	8: 110,088,672	D170E	probably benign	Het
Zfp746	A	G	6: 48,064,556	I412T	probably benign	Het

Other mutations in Cd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Cd6	APN	19	10796394	splice site	probably benign
IGL01326:Cd6	APN	19	10791102	missense	probably benign	0.09
IGL01406:Cd6	APN	19	10791137	missense	possibly damaging	0.77
IGL01885:Cd6	APN	19	10799237	missense	probably benign
IGL02268:Cd6	APN	19	10796388	missense	probably benign	0.03
IGL03100:Cd6	APN	19	10792939	missense	probably benign	0.34
R1856:Cd6	UTSW	19	10798602	missense	probably damaging	0.98
R2419:Cd6	UTSW	19	10792852	missense	probably damaging	1.00
R2869:Cd6	UTSW	19	10794626	missense	possibly damaging	0.86
R2869:Cd6	UTSW	19	10794626	missense	possibly damaging	0.86
R2870:Cd6	UTSW	19	10794626	missense	possibly damaging	0.86
R2870:Cd6	UTSW	19	10794626	missense	possibly damaging	0.86
R2874:Cd6	UTSW	19	10794626	missense	possibly damaging	0.86
R2936:Cd6	UTSW	19	10796322	splice site	probably null
R4124:Cd6	UTSW	19	10790608	missense	probably damaging	1.00
R6665:Cd6	UTSW	19	10791003	missense	probably benign	0.03
R6720:Cd6	UTSW	19	10794609	missense	probably benign	0.09
R7793:Cd6	UTSW	19	10798358	nonsense	probably null
Z1177:Cd6	UTSW	19	10791445	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTTTGTGCACAGTCTGGC -3'
(R):5'- AAGATTTTCCCAGCATGCCCAG -3'

Sequencing Primer
(F):5'- ACAGTCTGGCCTGGGCTC -3'
(R):5'- TTCCCAGCATGCCCAGTAGTG -3'

Posted On

2015-11-11