Incidental Mutation 'IGL00501:Klhdc8b'
ID6138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc8b
Ensembl Gene ENSMUSG00000032609
Gene Namekelch domain containing 8B
Synonyms4931406O17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL00501
Quality Score
Status
Chromosome9
Chromosomal Location108447636-108461581 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 108448906 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 263 (R263H)
Ref Sequence ENSEMBL: ENSMUSP00000141453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035232] [ENSMUST00000057265] [ENSMUST00000193286] [ENSMUST00000193895] [ENSMUST00000195435]
Predicted Effect probably benign
Transcript: ENSMUST00000035232
AA Change: R263H

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035232
Gene: ENSMUSG00000032609
AA Change: R263H

DomainStartEndE-ValueType
Kelch 32 79 2.08e-6 SMART
Kelch 80 127 1.9e-1 SMART
Kelch 128 174 1.76e-4 SMART
Kelch 176 222 3.74e-8 SMART
Kelch 239 281 8.33e0 SMART
Kelch 282 329 3.83e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057265
SMART Domains Protein: ENSMUSP00000059069
Gene: ENSMUSG00000050641

DomainStartEndE-ValueType
Pfam:HDNR 3 156 1.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193159
Predicted Effect probably benign
Transcript: ENSMUST00000193286
AA Change: R263H

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609
AA Change: R263H

DomainStartEndE-ValueType
Kelch 32 79 2.08e-6 SMART
Kelch 80 127 1.9e-1 SMART
Kelch 128 174 1.76e-4 SMART
Kelch 176 222 3.74e-8 SMART
Kelch 239 281 8.33e0 SMART
Kelch 282 329 3.83e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193895
AA Change: R263H

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609
AA Change: R263H

DomainStartEndE-ValueType
Kelch 32 79 2.08e-6 SMART
Kelch 80 127 1.9e-1 SMART
Kelch 128 174 1.76e-4 SMART
Kelch 176 222 3.74e-8 SMART
Kelch 239 281 8.33e0 SMART
Kelch 282 329 3.83e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194633
Predicted Effect probably benign
Transcript: ENSMUST00000195435
AA Change: R217H

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141558
Gene: ENSMUSG00000032609
AA Change: R217H

DomainStartEndE-ValueType
Kelch 32 79 7e-9 SMART
Kelch 80 127 6.3e-4 SMART
Kelch 128 176 1.5e-8 SMART
Kelch 193 235 2.8e-2 SMART
Kelch 236 283 1.3e-7 SMART
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 which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik G A 18: 40,257,387 probably benign Het
Acat1 T C 9: 53,582,595 I409V probably damaging Het
Adck1 A G 12: 88,368,422 N26S probably benign Het
Adgrf5 G A 17: 43,449,915 A834T possibly damaging Het
Agpat5 T C 8: 18,876,132 probably null Het
Ano8 A C 8: 71,479,149 probably null Het
Baz2a T A 10: 128,114,625 M476K probably benign Het
Col16a1 A G 4: 130,094,552 probably null Het
Cyp3a13 A T 5: 137,911,933 I113N probably benign Het
Dstn A G 2: 143,942,174 T146A probably benign Het
Eif2ak1 A T 5: 143,889,470 M434L probably damaging Het
Fam126a A G 5: 23,985,845 probably benign Het
Gba2 G A 4: 43,568,477 A663V probably damaging Het
Gja10 T C 4: 32,601,230 T385A possibly damaging Het
Gm42878 A C 5: 121,533,343 I209R probably damaging Het
Grk1 T A 8: 13,407,835 V245E probably damaging Het
H2afz T C 3: 137,865,596 V53A probably damaging Het
Lcn8 T C 2: 25,655,107 probably benign Het
Ldlr T C 9: 21,735,361 probably null Het
Lrrc40 T C 3: 158,061,282 F458S probably damaging Het
Lypla1 T A 1: 4,828,587 H35Q probably damaging Het
Mb21d1 G A 9: 78,435,587 A311V probably damaging Het
Mink1 C T 11: 70,603,812 T273I probably damaging Het
Neb A G 2: 52,295,344 F959L probably benign Het
Nedd4l A T 18: 65,208,092 D704V probably damaging Het
Peak1 C T 9: 56,227,326 E1274K probably damaging Het
Prkcz G T 4: 155,294,401 probably benign Het
Rabgap1 T A 2: 37,469,546 N40K probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Spink5 A G 18: 43,977,739 T126A probably damaging Het
Tanc2 T C 11: 105,923,220 V1830A probably benign Het
Tmem104 T C 11: 115,243,937 I433T probably damaging Het
Trim10 G A 17: 36,877,047 R385K probably benign Het
Zbtb44 A G 9: 31,054,310 I339V possibly damaging Het
Other mutations in Klhdc8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0537:Klhdc8b UTSW 9 108449223 missense possibly damaging 0.90
R0552:Klhdc8b UTSW 9 108449223 missense possibly damaging 0.90
R1080:Klhdc8b UTSW 9 108449638 missense probably benign 0.29
R1595:Klhdc8b UTSW 9 108451163 missense probably damaging 0.99
R4976:Klhdc8b UTSW 9 108451187 missense probably damaging 1.00
R5024:Klhdc8b UTSW 9 108448985 intron probably benign
R5056:Klhdc8b UTSW 9 108448985 intron probably benign
R5327:Klhdc8b UTSW 9 108449042 intron probably benign
R5819:Klhdc8b UTSW 9 108451062 missense probably benign 0.20
R6265:Klhdc8b UTSW 9 108448425 missense probably damaging 1.00
R7420:Klhdc8b UTSW 9 108449118 missense possibly damaging 0.59
R8871:Klhdc8b UTSW 9 108449672 missense probably damaging 0.99
Z1176:Klhdc8b UTSW 9 108448377 missense probably benign 0.00
Posted On2012-04-20