Incidental Mutation 'R8246:Klrh1'
ID 656440
Institutional Source Beutler Lab
Gene Symbol Klrh1
Ensembl Gene ENSMUSG00000071158
Gene Name killer cell lectin-like receptor subfamily H, member 1
Synonyms LOC232415, Gm156
MMRRC Submission 067852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8246 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 129743531-129761233 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 129752339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095409] [ENSMUST00000118532]
AlphaFold Q58A37
Predicted Effect probably benign
Transcript: ENSMUST00000095409
SMART Domains Protein: ENSMUSP00000093058
Gene: ENSMUSG00000071158

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
transmembrane domain 36 58 N/A INTRINSIC
CLECT 100 215 2.91e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118532
SMART Domains Protein: ENSMUSP00000113766
Gene: ENSMUSG00000071158

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
transmembrane domain 36 58 N/A INTRINSIC
CLECT 100 178 1.85e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 C A 7: 80,742,524 (GRCm39) D780E probably benign Het
Anln A C 9: 22,262,251 (GRCm39) S947A probably benign Het
Borcs6 C T 11: 68,951,377 (GRCm39) P252S probably benign Het
Ccdc42 C A 11: 68,478,122 (GRCm39) Q28K probably benign Het
Cp A G 3: 20,029,186 (GRCm39) I554M probably damaging Het
Dnm3 T G 1: 162,135,486 (GRCm39) D429A probably damaging Het
Dok5 A G 2: 170,642,813 (GRCm39) K37R probably benign Het
Dtwd2 A T 18: 49,831,492 (GRCm39) Y268N probably benign Het
Eif3a T C 19: 60,767,806 (GRCm39) E244G probably damaging Het
Elapor2 T C 5: 9,496,966 (GRCm39) V810A probably benign Het
Fam149a T C 8: 45,834,655 (GRCm39) E48G probably benign Het
Fam186a T A 15: 99,838,428 (GRCm39) E2605D unknown Het
Fhip1b T C 7: 105,038,867 (GRCm39) E124G probably damaging Het
Fyn T A 10: 39,405,525 (GRCm39) W264R probably damaging Het
Gm10024 T A 10: 77,547,369 (GRCm39) S27T unknown Het
Gpr157 C T 4: 150,186,753 (GRCm39) L294F possibly damaging Het
Kif6 C T 17: 50,065,542 (GRCm39) Q506* probably null Het
Loxhd1 A G 18: 77,451,242 (GRCm39) K707R possibly damaging Het
Mcub C A 3: 129,708,814 (GRCm39) V328L probably benign Het
Mdn1 C T 4: 32,657,284 (GRCm39) P12S probably benign Het
Mrgprb3 T G 7: 48,293,268 (GRCm39) L94F probably benign Het
Mycbp2 G T 14: 103,392,640 (GRCm39) P3307Q probably damaging Het
Nol8 T G 13: 49,808,724 (GRCm39) probably benign Het
Or11g2 A G 14: 50,855,841 (GRCm39) Y54C probably benign Het
Or4f57 T C 2: 111,790,483 (GRCm39) I312V probably benign Het
Pax5 T C 4: 44,570,027 (GRCm39) H286R probably benign Het
Rmdn2 T A 17: 79,979,966 (GRCm39) C381* probably null Het
Rpusd4 A G 9: 35,183,876 (GRCm39) I202V probably benign Het
Shank3 A T 15: 89,417,549 (GRCm39) R49W possibly damaging Het
Smurf2 T C 11: 106,721,870 (GRCm39) T542A probably benign Het
Sorcs2 G A 5: 36,219,932 (GRCm39) R371C probably damaging Het
Sqstm1 T C 11: 50,101,388 (GRCm39) H66R probably damaging Het
Stard8 C T X: 98,109,570 (GRCm39) S155L probably benign Het
Svep1 A T 4: 58,091,889 (GRCm39) V1582D probably damaging Het
Tecrl T C 5: 83,427,156 (GRCm39) M331V probably damaging Het
Tinf2 T C 14: 55,917,042 (GRCm39) S368G probably damaging Het
Tmem184c A T 8: 78,336,814 (GRCm39) I14N probably damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Ulk4 T C 9: 120,985,941 (GRCm39) *911W probably null Het
Unc13b T C 4: 43,175,954 (GRCm39) F2261L unknown Het
Vps16 G C 2: 130,280,793 (GRCm39) G241R probably damaging Het
Ythdc1 C T 5: 86,965,181 (GRCm39) T292I possibly damaging Het
Other mutations in Klrh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0844:Klrh1 UTSW 6 129,752,756 (GRCm39) missense possibly damaging 0.92
R1498:Klrh1 UTSW 6 129,748,703 (GRCm39) missense probably damaging 0.98
R1581:Klrh1 UTSW 6 129,752,796 (GRCm39) missense probably benign 0.01
R1866:Klrh1 UTSW 6 129,752,343 (GRCm39) critical splice donor site probably null
R1967:Klrh1 UTSW 6 129,752,798 (GRCm39) missense possibly damaging 0.83
R2289:Klrh1 UTSW 6 129,745,140 (GRCm39) missense probably null 0.04
R2384:Klrh1 UTSW 6 129,749,343 (GRCm39) missense probably benign
R5192:Klrh1 UTSW 6 129,748,721 (GRCm39) missense probably benign 0.15
R5199:Klrh1 UTSW 6 129,752,781 (GRCm39) missense possibly damaging 0.68
R6124:Klrh1 UTSW 6 129,745,098 (GRCm39) missense probably benign 0.05
R6290:Klrh1 UTSW 6 129,743,658 (GRCm39) missense probably benign 0.01
R7084:Klrh1 UTSW 6 129,743,673 (GRCm39) missense possibly damaging 0.51
R7472:Klrh1 UTSW 6 129,752,345 (GRCm39) missense probably benign 0.09
R7546:Klrh1 UTSW 6 129,749,343 (GRCm39) missense probably benign 0.00
R8077:Klrh1 UTSW 6 129,743,658 (GRCm39) missense probably benign 0.01
R8924:Klrh1 UTSW 6 129,745,084 (GRCm39) missense probably benign 0.01
R9057:Klrh1 UTSW 6 129,752,803 (GRCm39) start codon destroyed probably benign 0.09
R9112:Klrh1 UTSW 6 129,743,697 (GRCm39) missense probably benign 0.31
R9713:Klrh1 UTSW 6 129,752,359 (GRCm39) missense possibly damaging 0.88
X0026:Klrh1 UTSW 6 129,745,125 (GRCm39) missense probably damaging 1.00
Z1088:Klrh1 UTSW 6 129,749,426 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCCAGTTTAAGAAGCACACTG -3'
(R):5'- GCACAGCTGAAATTATCCAAGAAG -3'

Sequencing Primer
(F):5'- GCACACTGAAATTTTACACATTGAC -3'
(R):5'- GTGTGTGTGCAGAAAACATAATATC -3'
Posted On 2020-11-13