Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Cd6'

287024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd6

Ensembl Gene

ENSMUSG00000024670

Gene Name

CD6 antigen

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

10789341-10830058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10796388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 361 (G361D)

Ref Sequence

ENSEMBL: ENSMUSP00000079172 (fasta)

Gene Model

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

AlphaFold

Q61003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000025572

Predicted Effect

probably benign
Transcript: ENSMUST00000039043
AA Change: G361D

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046861
Gene: ENSMUSG00000024670
AA Change: G361D

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 benign
Transcript: ENSMUST00000080292
AA Change: G361D

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000079172
Gene: ENSMUSG00000024670
AA Change: G361D

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
AA Change: G260D

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134639
Gene: ENSMUSG00000024670
AA Change: G260D

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	T	A	1: 43,730,951	C23S	probably damaging	Het
2310057J18Rik	C	T	10: 28,986,246	C16Y	probably benign	Het
5330417C22Rik	C	A	3: 108,467,797	A585S	probably benign	Het
Abca13	C	T	11: 9,290,626	L830F	probably benign	Het
Apcdd1	T	C	18: 62,950,188	V363A	probably damaging	Het
Cachd1	A	G	4: 100,952,097	I260V	possibly damaging	Het
Cass4	T	A	2: 172,427,042	M350K	possibly damaging	Het
Ccdc129	A	T	6: 55,884,688		probably benign	Het
Ccnjl	A	G	11: 43,579,788	T128A	probably benign	Het
Cdh22	T	C	2: 165,123,719		probably benign	Het
Ces2h	T	A	8: 105,019,940	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380	T44S	probably damaging	Het
Cplx3	C	T	9: 57,602,458	E86K	possibly damaging	Het
Crbn	A	G	6: 106,795,043	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,241,155	V1267L	possibly damaging	Het
F930017D23Rik	A	G	10: 43,604,409		noncoding transcript	Het
Fam214b	T	A	4: 43,036,468	R88*	probably null	Het
Fastkd3	A	G	13: 68,583,677	D39G	probably damaging	Het
Gm17689	T	C	9: 36,581,870	Y52C	possibly damaging	Het
Golgb1	T	A	16: 36,913,128	S912R	probably benign	Het
H2-T24	T	C	17: 36,017,372	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,592,354	L11*	probably null	Het
Igsf10	A	T	3: 59,331,152	L536*	probably null	Het
Kcnma1	A	T	14: 23,543,076	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,373,716	I857L	possibly damaging	Het
Kptn	A	T	7: 16,123,861	H229L	probably benign	Het
Krt32	A	T	11: 100,088,141	M29K	probably benign	Het
Lama2	A	G	10: 27,001,116		probably benign	Het
Lpcat2b	A	C	5: 107,434,116	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,607,898	L513P	probably damaging	Het
Mon1a	T	C	9: 107,901,798	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,246,237	P135L	probably damaging	Het
Myof	T	A	19: 37,974,863	I429F	possibly damaging	Het
Myof	C	T	19: 37,954,429	V218M	possibly damaging	Het
Nbas	A	G	12: 13,405,397	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,528,618	P560S	probably benign	Het
Notch2	G	A	3: 98,137,397	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,781,531	H572Y	probably damaging	Het
Olfr314	T	C	11: 58,786,725	F164L	probably benign	Het
Olfr873	T	C	9: 20,300,292	S31P	probably damaging	Het
Pcdh15	A	T	10: 74,342,672	D587V	probably damaging	Het
Pik3cb	T	C	9: 99,046,556	Y882C	probably benign	Het
Plch1	T	A	3: 63,699,283	*1074C	probably null	Het
Plcxd1	T	C	5: 110,100,274		probably benign	Het
Ppp2r2d	A	G	7: 138,872,971	N27S	probably null	Het
Prkar2a	A	G	9: 108,746,953	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,868,958	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,493,653		probably benign	Het
Rasl12	T	C	9: 65,398,664	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,418,857	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,468,719	K290R	probably damaging	Het
Rwdd4a	T	A	8: 47,550,696	L179*	probably null	Het
Scgb1b24	A	G	7: 33,744,963	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,017,722	I1022V	probably benign	Het
Smg1	A	C	7: 118,182,541	I1174M	probably benign	Het
Spata17	A	T	1: 187,140,398	M72K	probably damaging	Het
Synpo2	G	A	3: 123,116,983	P338S	probably damaging	Het
Tpi1	G	A	6: 124,814,124	T50I	probably benign	Het
Trpm1	A	G	7: 64,217,614	E354G	probably damaging	Het
Uba2	A	G	7: 34,142,736		probably null	Het
Wnk1	G	A	6: 119,937,373	R1823*	probably null	Het
Zfp248	A	C	6: 118,453,840		probably benign	Het
Zfp51	A	T	17: 21,463,419	K99*	probably null	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
IGL03100:Cd6	APN	19	10792939	missense	probably benign	0.34
digression	UTSW	19	10798358	nonsense	probably null
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
R4748:Cd6	UTSW	19	10794225	nonsense	probably null
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
R8122:Cd6	UTSW	19	10792867	missense	probably damaging	1.00
R8998:Cd6	UTSW	19	10799278	missense	probably damaging	1.00
R8999:Cd6	UTSW	19	10799278	missense	probably damaging	1.00
R9147:Cd6	UTSW	19	10799491	missense	probably benign
R9148:Cd6	UTSW	19	10799491	missense	probably benign
Z1177:Cd6	UTSW	19	10791445	missense	probably damaging	1.00

Posted On

2015-04-16