Incidental Mutation 'IGL02995:Klra17'
ID407117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra17
Ensembl Gene ENSMUSG00000014543
Gene Namekiller cell lectin-like receptor, subfamily A, member 17
SynonymsLy49q1, Ly-49Q, Ly49Q
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.030) question?
Stock #IGL02995
Quality Score
Status
Chromosome6
Chromosomal Location129831154-129876672 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 129868684 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014687] [ENSMUST00000122219] [ENSMUST00000171980]
Predicted Effect probably null
Transcript: ENSMUST00000014687
SMART Domains Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543

DomainStartEndE-ValueType
low complexity region 52 69 N/A INTRINSIC
Blast:CLECT 73 126 2e-12 BLAST
CLECT 144 259 1.5e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122219
SMART Domains Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543

DomainStartEndE-ValueType
low complexity region 53 70 N/A INTRINSIC
Blast:CLECT 74 127 2e-12 BLAST
CLECT 145 260 1.5e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171980
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-in allele exhibit reduced plasmacytoid dendritic cell number and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,163,288 V175A probably benign Het
Adam19 G A 11: 46,136,349 R603Q probably benign Het
Adam25 T C 8: 40,753,723 S9P probably benign Het
Akr1e1 T A 13: 4,597,478 probably benign Het
Ano8 C T 8: 71,483,117 V286I possibly damaging Het
Baz1a C T 12: 54,900,447 R1139H probably damaging Het
Brca2 T A 5: 150,529,488 L29H probably damaging Het
Btaf1 T C 19: 36,981,135 probably benign Het
C8b T A 4: 104,801,328 probably benign Het
Cep295 A T 9: 15,333,312 S1283T probably damaging Het
Cyp1a2 T C 9: 57,677,228 *514W probably null Het
D2hgdh G T 1: 93,829,836 D158Y probably damaging Het
Dennd1b G A 1: 139,081,242 V228M probably damaging Het
Fgd6 T A 10: 94,045,480 L732* probably null Het
Gm21969 G A 4: 139,607,698 G348S probably benign Het
Gprc6a C T 10: 51,626,799 V323M probably damaging Het
Gzme T A 14: 56,118,709 M111L probably damaging Het
Iars2 G T 1: 185,303,301 Q581K probably benign Het
Klra5 A T 6: 129,906,614 D93E possibly damaging Het
Lats2 T C 14: 57,700,348 Y228C probably damaging Het
Lrrn3 T C 12: 41,452,217 I700M probably damaging Het
Ltb A T 17: 35,195,372 probably benign Het
Myo18b T C 5: 112,775,413 probably benign Het
Olfr103 A T 17: 37,336,709 H174Q probably damaging Het
Olfr323 A G 11: 58,625,281 M255T possibly damaging Het
Olfr346 C T 2: 36,688,632 P210L possibly damaging Het
Olfr395 G A 11: 73,907,219 T91M possibly damaging Het
Olfr518 T A 7: 108,880,991 E205V probably damaging Het
Pgap1 A C 1: 54,493,350 I670S probably benign Het
Plxna4 A T 6: 32,516,595 I362N probably damaging Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Prr27 T C 5: 87,842,816 S96P probably benign Het
Psip1 T A 4: 83,463,717 probably benign Het
Rgs3 T A 4: 62,625,847 H285Q possibly damaging Het
Ror1 T C 4: 100,334,525 probably benign Het
Rps6ka5 C A 12: 100,573,999 probably benign Het
Sipa1l1 T A 12: 82,357,331 Y533N probably benign Het
Snx6 T C 12: 54,795,510 probably benign Het
Tbc1d9 T A 8: 83,269,059 probably null Het
Tek T C 4: 94,739,640 probably benign Het
Tor2a T A 2: 32,761,497 H241Q possibly damaging Het
Wnt5a A T 14: 28,522,914 I353F probably benign Het
Other mutations in Klra17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00727:Klra17 APN 6 129831509 missense probably benign 0.12
IGL02084:Klra17 APN 6 129831593 missense probably damaging 1.00
IGL03238:Klra17 APN 6 129868810 missense probably benign 0.43
R0118:Klra17 UTSW 6 129831589 missense probably benign 0.01
R0583:Klra17 UTSW 6 129868693 missense probably damaging 1.00
R1103:Klra17 UTSW 6 129868843 unclassified probably benign
R1378:Klra17 UTSW 6 129865684 missense probably damaging 0.96
R1513:Klra17 UTSW 6 129872314 missense possibly damaging 0.61
R1817:Klra17 UTSW 6 129868718 unclassified probably null
R2262:Klra17 UTSW 6 129874794 critical splice donor site probably null
R2446:Klra17 UTSW 6 129831514 missense probably benign 0.02
R2484:Klra17 UTSW 6 129868757 missense probably damaging 1.00
R3410:Klra17 UTSW 6 129874846 missense probably damaging 0.99
R3411:Klra17 UTSW 6 129874846 missense probably damaging 0.99
R3739:Klra17 UTSW 6 129873365 missense probably benign 0.03
R4747:Klra17 UTSW 6 129872269 missense probably damaging 0.97
R4956:Klra17 UTSW 6 129873316 missense probably damaging 1.00
R5079:Klra17 UTSW 6 129872196 missense possibly damaging 0.72
R5310:Klra17 UTSW 6 129868708 missense probably damaging 1.00
R5366:Klra17 UTSW 6 129874895 missense possibly damaging 0.89
R5875:Klra17 UTSW 6 129874828 missense probably benign 0.01
R6043:Klra17 UTSW 6 129872187 critical splice donor site probably null
R6515:Klra17 UTSW 6 129831499 missense probably damaging 1.00
R6675:Klra17 UTSW 6 129872323 missense probably damaging 0.99
Posted On2016-08-02