Incidental Mutation 'IGL01406:Cd6'
ID79809
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: 0.075) question?
Stock #IGL01406
Quality Score
Status
Chromosome19
Chromosomal Location10789341-10830058 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 10791137 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 496 (A496E)
Ref Sequence ENSEMBL: ENSMUSP00000046861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039043] [ENSMUST00000080292] [ENSMUST00000174176]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000025572
Predicted Effect possibly damaging
Transcript: ENSMUST00000039043
AA Change: A496E

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046861
Gene: ENSMUSG00000024670
AA Change: A496E

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 possibly damaging
Transcript: ENSMUST00000080292
AA Change: A535E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079172
Gene: ENSMUSG00000024670
AA Change: A535E

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,130,212 Q558* probably null Het
Adam29 A T 8: 55,871,839 Y527N probably damaging Het
Atm T C 9: 53,439,746 *3067W probably null Het
B3galt2 A T 1: 143,647,106 I327L possibly damaging Het
Cadm2 C A 16: 66,815,304 probably null Het
Cdh16 A T 8: 104,618,412 I415N possibly damaging Het
Ces1b T C 8: 93,071,994 N188S probably damaging Het
Col4a1 T C 8: 11,218,898 D980G probably damaging Het
Dmgdh G A 13: 93,687,031 probably benign Het
Emb A T 13: 117,268,930 D296V probably damaging Het
Fbln2 T C 6: 91,266,392 S917P probably damaging Het
Fmnl1 T C 11: 103,194,690 probably benign Het
Frem2 T C 3: 53,525,896 Y2669C probably damaging Het
Gm3115 T A 14: 4,087,137 probably benign Het
Hnf1b C T 11: 83,889,124 P402S probably benign Het
Il7r T A 15: 9,508,214 R341* probably null Het
Krt75 T C 15: 101,568,025 Y435C probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Musk T C 4: 58,367,539 Y578H probably damaging Het
Naa20 A G 2: 145,915,806 probably null Het
Ncoa7 T C 10: 30,690,840 D565G probably damaging Het
Pgap1 C T 1: 54,533,414 probably null Het
Plekha5 G A 6: 140,572,950 R172H probably damaging Het
Snx17 A G 5: 31,195,994 Y77C probably damaging Het
Spdye4b C T 5: 143,202,411 P220S probably benign Het
Tbx18 T A 9: 87,713,543 D326V probably damaging Het
Tlr12 A T 4: 128,616,339 L706* probably null Het
Tnfrsf21 T A 17: 43,037,946 C150S probably damaging Het
Togaram1 A G 12: 64,995,578 D1187G possibly damaging Het
Trav5-1 T C 14: 52,622,987 L83P probably damaging Het
Vmn2r75 T A 7: 86,163,292 probably benign Het
Other mutations in Cd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Cd6 APN 19 10796394 splice site probably benign
IGL01326:Cd6 APN 19 10791102 missense probably benign 0.09
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
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
Z1177:Cd6 UTSW 19 10791445 missense probably damaging 1.00
Posted On2013-11-05