Incidental Mutation 'IGL02189:Klra4'
ID283761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra4
Ensembl Gene ENSMUSG00000079852
Gene Namekiller cell lectin-like receptor, subfamily A, member 4
SynonymsLy49d, Chok, ly49r<129>
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02189
Quality Score
Status
Chromosome6
Chromosomal Location130043731-130067271 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 130044142 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 230 (D230V)
Ref Sequence ENSEMBL: ENSMUSP00000114004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119096]
Predicted Effect possibly damaging
Transcript: ENSMUST00000119096
AA Change: D230V

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114004
Gene: ENSMUSG00000079852
AA Change: D230V

DomainStartEndE-ValueType
CLECT 140 255 1.78e-16 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,000,230 K57E probably damaging Het
9930111J21Rik1 A T 11: 48,947,421 Y780N probably benign Het
Aadacl2 T C 3: 60,025,188 S375P probably damaging Het
Abi1 A C 2: 23,040,064 M1R probably null Het
Acss1 T C 2: 150,629,868 D322G probably damaging Het
Adam22 G A 5: 8,330,029 R90W possibly damaging Het
Agtpbp1 T C 13: 59,500,461 H515R probably benign Het
BC003331 G T 1: 150,372,033 N356K possibly damaging Het
C3 T C 17: 57,220,113 K779E probably benign Het
Cfhr2 A G 1: 139,821,759 Y162H probably damaging Het
Chchd5 T C 2: 129,133,268 probably benign Het
Csmd1 T A 8: 16,271,606 I493F probably damaging Het
Daam1 A T 12: 71,946,285 R349S unknown Het
Dnah11 T C 12: 118,082,579 E1708G probably benign Het
Epg5 A G 18: 78,012,870 D1753G probably damaging Het
Flt4 T G 11: 49,626,003 C206G probably damaging Het
Fscn1 G T 5: 142,960,620 A58S possibly damaging Het
Gapvd1 A T 2: 34,728,544 N272K probably damaging Het
Gem T A 4: 11,706,121 S70T possibly damaging Het
H2-K1 A G 17: 33,999,492 L150P probably damaging Het
Hsd3b3 T A 3: 98,742,138 I290L probably benign Het
Iws1 A G 18: 32,093,125 R689G probably damaging Het
Klk1b22 A G 7: 44,116,206 probably null Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lilra5 A T 7: 4,237,969 M21L probably benign Het
Lrrc20 T A 10: 61,527,108 V44D possibly damaging Het
Mtx1 T G 3: 89,209,317 M426L probably damaging Het
Mylk2 C T 2: 152,915,154 P283L probably damaging Het
Mynn T A 3: 30,613,544 probably benign Het
Olfr1231 A C 2: 89,303,297 C98W probably damaging Het
Parl T A 16: 20,297,703 I116F probably damaging Het
Pdlim3 T C 8: 45,885,593 V5A probably damaging Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Ptprf T A 4: 118,213,642 probably benign Het
Ptprn A G 1: 75,258,495 S170P possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps27a C A 11: 29,546,772 Q40H probably damaging Het
Ryr3 A T 2: 112,754,838 probably benign Het
Scube3 G T 17: 28,162,996 C332F probably benign Het
Sh3glb2 T C 2: 30,345,339 probably null Het
Sh3tc2 A G 18: 61,990,622 E818G probably benign Het
Slc16a3 G A 11: 120,956,771 V262I probably benign Het
Sptbn1 T A 11: 30,117,871 D1781V probably damaging Het
Ssr1 C T 13: 37,987,516 probably null Het
Tep1 A G 14: 50,826,826 L2442S probably benign Het
Tonsl A T 15: 76,623,178 V94D possibly damaging Het
Ttc22 A T 4: 106,639,157 H468L probably benign Het
Ttc27 C T 17: 74,729,899 T189M probably damaging Het
Ttn T C 2: 76,890,156 probably benign Het
Ttn T G 2: 76,759,895 I21157L probably damaging Het
Vav3 T A 3: 109,525,960 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Klra4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Klra4 APN 6 130062022 missense probably benign 0.18
IGL02510:Klra4 APN 6 130059543 missense probably damaging 1.00
IGL02887:Klra4 APN 6 130044070 missense probably damaging 1.00
R1388:Klra4 UTSW 6 130062235 splice site probably benign
R1933:Klra4 UTSW 6 130065244 missense possibly damaging 0.83
R3121:Klra4 UTSW 6 130063178 missense probably benign 0.00
R5205:Klra4 UTSW 6 130062117 missense probably damaging 0.99
R5223:Klra4 UTSW 6 130062147 missense probably damaging 1.00
R5589:Klra4 UTSW 6 130062154 missense probably benign 0.41
R5930:Klra4 UTSW 6 130053053 missense possibly damaging 0.95
R5931:Klra4 UTSW 6 130053053 missense possibly damaging 0.95
R5932:Klra4 UTSW 6 130053053 missense possibly damaging 0.95
R6452:Klra4 UTSW 6 130065366 splice site probably null
R6752:Klra4 UTSW 6 130062028 missense probably benign 0.01
R6789:Klra4 UTSW 6 130062219 missense probably damaging 1.00
R6841:Klra4 UTSW 6 130065199 missense probably benign 0.01
R7255:Klra4 UTSW 6 130059642 missense probably damaging 0.99
R7901:Klra4 UTSW 6 130063150 missense probably damaging 1.00
R7984:Klra4 UTSW 6 130063150 missense probably damaging 1.00
Posted On2015-04-16