Incidental Mutation 'IGL00823:Cd6'
ID9504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd6
Ensembl Gene ENSMUSG00000024670
Gene NameCD6 antigen
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL00823
Quality Score
Status
Chromosome19
Chromosomal Location10789341-10830058 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 10796394 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039043] [ENSMUST00000080292] [ENSMUST00000174176]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000025572
Predicted Effect probably benign
Transcript: ENSMUST00000039043
SMART Domains Protein: ENSMUSP00000046861
Gene: ENSMUSG00000024670

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000079172
Gene: ENSMUSG00000024670

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,878,534 probably benign Het
Adam5 T C 8: 24,818,742 E39G probably benign Het
Anapc7 G A 5: 122,433,477 W205* probably null Het
Arhgap5 C T 12: 52,518,742 T832I possibly damaging Het
Arhgef10 T A 8: 14,940,378 probably benign Het
Atg5 A G 10: 44,363,044 T274A probably benign Het
Baiap2l2 G T 15: 79,284,565 probably benign Het
Brap T A 5: 121,665,227 M146K probably damaging Het
Brpf1 T C 6: 113,321,886 S1074P probably benign Het
Camta1 A C 4: 151,084,601 I231R probably benign Het
Ccdc15 C T 9: 37,320,413 G205D probably benign Het
Cdh17 T G 4: 11,783,412 S219R possibly damaging Het
Cgn G A 3: 94,767,209 R873W probably damaging Het
Ctnna3 C T 10: 63,537,543 P41L possibly damaging Het
Dmbt1 T C 7: 131,058,158 W484R probably benign Het
Dmd A G X: 84,425,813 probably null Het
Dnah17 C T 11: 118,047,161 V3347I probably benign Het
Fam122b A T X: 53,245,331 C222S probably damaging Het
Fgd5 T A 6: 91,988,459 S400T possibly damaging Het
Kitl C A 10: 100,087,344 probably benign Het
Lamc3 A T 2: 31,918,521 D763V probably damaging Het
Lgmn T C 12: 102,398,176 probably benign Het
Lpcat2 T G 8: 92,864,970 W81G possibly damaging Het
Myh13 A G 11: 67,355,947 I1165V probably benign Het
Nf1 A G 11: 79,565,517 D599G probably damaging Het
Nin T C 12: 70,014,793 N2099S probably benign Het
Nlrc4 T C 17: 74,447,990 D77G probably benign Het
Otub1 A G 19: 7,204,051 probably benign Het
Pah A G 10: 87,570,331 Y174C probably null Het
Papd4 T C 13: 93,186,397 T15A probably benign Het
Rbbp5 G A 1: 132,489,706 V88I probably damaging Het
Scn1a C T 2: 66,324,935 R560H probably benign Het
Snx5 T C 2: 144,255,565 I217V probably benign Het
Syne2 T C 12: 75,989,242 S3769P probably damaging Het
Tmem255b T C 8: 13,457,054 M261T probably benign Het
Top3b T C 16: 16,887,622 I417T probably damaging Het
Tspan2 T C 3: 102,758,233 probably null Het
Ttn T C 2: 76,709,713 T34310A possibly damaging Het
Ush2a G A 1: 188,911,443 C4334Y possibly damaging Het
Wdpcp A G 11: 21,659,995 D21G probably damaging Het
Yy2 A C X: 157,568,211 D186E probably benign Het
Other mutations in Cd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2012-12-06