Incidental Mutation 'IGL01320:Klra1'
ID278272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra1
Ensembl Gene ENSMUSG00000079853
Gene Namekiller cell lectin-like receptor, subfamily A, member 1
SynonymsLy49o<129>, Ly49A
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL01320
Quality Score
Status
Chromosome6
Chromosomal Location130363917-130386874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 130364261 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 250 (I250F)
Ref Sequence ENSEMBL: ENSMUSP00000032288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032288]
Predicted Effect probably benign
Transcript: ENSMUST00000032288
AA Change: I250F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032288
Gene: ENSMUSG00000079853
AA Change: I250F

DomainStartEndE-ValueType
Blast:CLECT 73 118 9e-8 BLAST
CLECT 139 254 4.02e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127570
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,575,588 E229G probably benign Het
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Ankrd17 A T 5: 90,260,129 S1410T probably damaging Het
Arntl T C 7: 113,303,407 I421T probably damaging Het
Asb8 A G 15: 98,141,278 probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Crnn T C 3: 93,148,212 S102P probably damaging Het
Cyb5a T C 18: 84,879,523 I115T probably damaging Het
Daw1 T C 1: 83,198,180 I213T possibly damaging Het
Dcp1b T A 6: 119,215,075 S317R probably benign Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
E2f7 G A 10: 110,754,093 V36I probably benign Het
Esrp1 A G 4: 11,384,374 I103T possibly damaging Het
Hap1 G A 11: 100,349,380 T530I probably damaging Het
Hps3 T C 3: 20,030,469 N185S probably benign Het
Lipn A G 19: 34,084,640 T332A probably benign Het
Ltbp4 A G 7: 27,328,359 probably benign Het
Ncor2 A G 5: 125,109,927 V11A probably benign Het
Nipsnap2 C T 5: 129,744,764 T108M probably damaging Het
Olfr153 T A 2: 87,532,285 M84K probably benign Het
Olfr479 A G 7: 108,054,981 probably benign Het
Ppid A G 3: 79,595,277 E46G probably damaging Het
Rrp12 A G 19: 41,877,936 L626P probably damaging Het
Slc6a15 A T 10: 103,404,745 I410F probably benign Het
Sorcs1 A G 19: 50,288,079 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
St8sia5 A T 18: 77,254,622 T307S probably damaging Het
Stac2 T C 11: 98,040,095 probably null Het
Tiam2 T C 17: 3,505,745 L77P probably damaging Het
Tmem87b G T 2: 128,831,216 G190V probably damaging Het
Trav7-6 T C 14: 53,717,108 S32P possibly damaging Het
Unc45b A G 11: 82,912,393 probably null Het
Wnt1 C A 15: 98,792,523 D244E possibly damaging Het
Other mutations in Klra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Klra1 APN 6 130364274 nonsense probably null
IGL01322:Klra1 APN 6 130364261 missense probably benign 0.02
IGL02149:Klra1 APN 6 130375330 missense probably damaging 1.00
IGL02666:Klra1 APN 6 130364315 missense probably damaging 1.00
IGL02895:Klra1 APN 6 130375240 missense possibly damaging 0.51
R0004:Klra1 UTSW 6 130372873 missense probably damaging 1.00
R0408:Klra1 UTSW 6 130377774 missense probably benign 0.13
R0442:Klra1 UTSW 6 130372872 missense probably damaging 1.00
R0498:Klra1 UTSW 6 130372819 critical splice donor site probably null
R0765:Klra1 UTSW 6 130379092 splice site probably benign
R1761:Klra1 UTSW 6 130372873 missense probably damaging 1.00
R1922:Klra1 UTSW 6 130372865 missense probably benign 0.01
R1987:Klra1 UTSW 6 130377779 missense probably benign
R2882:Klra1 UTSW 6 130377863 splice site probably null
R5054:Klra1 UTSW 6 130375284 missense probably damaging 0.99
R5190:Klra1 UTSW 6 130375278 missense probably damaging 1.00
R5572:Klra1 UTSW 6 130372839 missense possibly damaging 0.73
R5825:Klra1 UTSW 6 130380629 missense probably damaging 1.00
R6784:Klra1 UTSW 6 130372854 missense probably benign 0.00
Posted On2015-04-16