Incidental Mutation 'R5819:Klhdc8b'
ID449230
Institutional Source Beutler Lab
Gene Symbol Klhdc8b
Ensembl Gene ENSMUSG00000032609
Gene Namekelch domain containing 8B
Synonyms4931406O17Rik
MMRRC Submission 043399-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #R5819 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location108447636-108461581 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 108451062 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 64 (P64S)
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: P64S

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000035232
Gene: ENSMUSG00000032609
AA Change: P64S

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: ENSMUST00000192196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193159
Predicted Effect probably benign
Transcript: ENSMUST00000193286
AA Change: P64S

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609
AA Change: P64S

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: ENSMUST00000193331
Predicted Effect probably benign
Transcript: ENSMUST00000193895
AA Change: P64S

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609
AA Change: P64S

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 probably benign
Transcript: ENSMUST00000195435
AA Change: P64S

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141558
Gene: ENSMUSG00000032609
AA Change: P64S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194633
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A T 3: 37,048,600 M4863L probably benign Het
Abca4 A T 3: 122,136,981 I1376F probably damaging Het
Aggf1 T C 13: 95,351,621 N673D possibly damaging Het
Avil T C 10: 127,009,998 F372S probably damaging Het
Bod1l T A 5: 41,832,605 E258D probably benign Het
Ccdc129 A T 6: 55,897,891 K275N probably benign Het
Chek1 T A 9: 36,710,405 H420L probably benign Het
Cyfip1 A G 7: 55,879,151 I260M probably damaging Het
Dclk1 G A 3: 55,489,864 V524I probably damaging Het
Efr3b T C 12: 3,992,965 M102V probably benign Het
Erc2 T A 14: 28,141,369 I517N probably damaging Het
Fubp1 T C 3: 152,220,553 I305T probably damaging Het
Galc T A 12: 98,216,261 D443V probably benign Het
Galnt4 T A 10: 99,110,030 I539N probably damaging Het
Gm17093 G T 14: 44,521,529 M169I unknown Het
Gm4858 A G 3: 93,073,732 Y19C probably damaging Het
Htra1 T C 7: 130,981,739 F363S probably damaging Het
Kmt2c A G 5: 25,409,132 probably null Het
Mettl21c T G 1: 44,009,722 K222Q probably damaging Het
Mga A C 2: 119,941,263 M1535L possibly damaging Het
Mov10 C T 3: 104,801,512 G395D probably damaging Het
Ms4a10 C A 19: 10,968,690 A26S probably benign Het
Naaladl1 A G 19: 6,109,654 N372D possibly damaging Het
Olfr1275 A T 2: 111,230,959 I278N probably damaging Het
Optc T C 1: 133,897,879 D303G probably damaging Het
Osmr C A 15: 6,815,787 V833L probably benign Het
Phf14 A G 6: 11,997,252 probably null Het
Pjvk A G 2: 76,658,369 I295V probably benign Het
Plppr4 T A 3: 117,325,864 I299L possibly damaging Het
Prkg1 A G 19: 31,585,672 S110P probably benign Het
Ptprq T A 10: 107,719,883 probably benign Het
Rarb T G 14: 16,443,820 N156T possibly damaging Het
Rgl3 A T 9: 21,981,602 probably null Het
Ruvbl1 A C 6: 88,483,115 probably null Het
S1pr1 G T 3: 115,712,140 C268* probably null Het
Sbk3 T C 7: 4,969,997 D58G probably benign Het
Scgb2b3 T A 7: 31,360,214 H45L possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 probably benign Het
Soga3 A T 10: 29,197,273 M854L probably benign Het
Tas2r119 T C 15: 32,177,306 L6P probably damaging Het
Tcp11 A T 17: 28,069,236 F339L probably damaging Het
Tmprss5 T A 9: 49,114,479 probably null Het
Trnau1ap A G 4: 132,325,210 probably benign Het
Trp53bp1 G A 2: 121,208,392 R1397* probably null Het
Ubqln3 G A 7: 104,141,467 P472L probably benign Het
Vmn2r13 T A 5: 109,174,100 M244L possibly damaging Het
Zfp777 C T 6: 48,037,588 E395K probably damaging Het
Zfyve27 A G 19: 42,183,496 S156G probably benign Het
Other mutations in Klhdc8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Klhdc8b APN 9 108448906 missense probably benign 0.41
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
R6265:Klhdc8b UTSW 9 108448425 missense probably damaging 1.00
R7420:Klhdc8b UTSW 9 108449118 missense possibly damaging 0.59
Z1176:Klhdc8b UTSW 9 108448377 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGATGTTCTAAGCCACTCAC -3'
(R):5'- TGAGCAGATACTATGGCCTACC -3'

Sequencing Primer
(F):5'- GGATGTTCTAAGCCACTCACCTCTC -3'
(R):5'- TGAGCGAGTACCATGGCTG -3'
Posted On2016-12-20