Incidental Mutation 'R9139:Klhdc8b'
ID 694223
Institutional Source Beutler Lab
Gene Symbol Klhdc8b
Ensembl Gene ENSMUSG00000032609
Gene Name kelch domain containing 8B
Synonyms 4931406O17Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R9139 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108324835-108338780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108326927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 145 (V145A)
Ref Sequence ENSEMBL: ENSMUSP00000035232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035232] [ENSMUST00000057265] [ENSMUST00000193286] [ENSMUST00000193895] [ENSMUST00000195435]
AlphaFold Q9D2D9
Predicted Effect probably damaging
Transcript: ENSMUST00000035232
AA Change: V145A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035232
Gene: ENSMUSG00000032609
AA Change: V145A

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 probably damaging
Transcript: ENSMUST00000193286
AA Change: V145A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609
AA Change: V145A

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 damaging
Transcript: ENSMUST00000193895
AA Change: V145A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609
AA Change: V145A

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: ENSMUST00000195435
SMART Domains Protein: ENSMUSP00000141558
Gene: ENSMUSG00000032609

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,320,705 (GRCm39) V288A possibly damaging Het
Ankhd1 T A 18: 36,711,810 (GRCm39) S135R Het
Axl G A 7: 25,460,846 (GRCm39) T721I probably damaging Het
Blnk G A 19: 40,922,962 (GRCm39) A388V probably benign Het
C8b T C 4: 104,641,631 (GRCm39) V189A probably damaging Het
Ccdc33 G C 9: 57,983,842 (GRCm39) I452M probably benign Het
Cfap57 T C 4: 118,412,048 (GRCm39) T1199A probably benign Het
Chga G A 12: 102,528,144 (GRCm39) V212M probably benign Het
Cspp1 T A 1: 10,186,875 (GRCm39) M887K probably damaging Het
Cyp3a16 G C 5: 145,406,434 (GRCm39) A6G unknown Het
Cyp4f17 G T 17: 32,743,868 (GRCm39) E349* probably null Het
Dnajc13 A T 9: 104,085,039 (GRCm39) D791E probably benign Het
Dpysl5 T C 5: 30,935,397 (GRCm39) Y167H probably benign Het
Dqx1 G T 6: 83,036,759 (GRCm39) Q254H possibly damaging Het
Eef1g A G 19: 8,955,383 (GRCm39) T411A probably benign Het
Fancl C A 11: 26,337,231 (GRCm39) A6E probably benign Het
Gabrr3 A G 16: 59,227,830 (GRCm39) Q29R probably benign Het
Gtf2h2 A C 13: 100,617,778 (GRCm39) L168R probably damaging Het
Hacl1 T A 14: 31,338,338 (GRCm39) Q413L probably benign Het
Hdc A T 2: 126,439,837 (GRCm39) V372E probably damaging Het
Hr A T 14: 70,795,079 (GRCm39) H208L possibly damaging Het
Htr6 T C 4: 138,789,501 (GRCm39) R255G possibly damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kank2 A G 9: 21,681,370 (GRCm39) V747A probably damaging Het
Kif5c A G 2: 49,620,291 (GRCm39) T508A probably benign Het
Klk1b21 T A 7: 43,754,924 (GRCm39) V73D probably damaging Het
Ksr1 T A 11: 78,911,572 (GRCm39) M737L probably benign Het
Macf1 T C 4: 123,328,564 (GRCm39) Y4723C probably damaging Het
Mcm7 T C 5: 138,167,397 (GRCm39) Y182C probably damaging Het
Mtf2 T C 5: 108,252,398 (GRCm39) probably null Het
Nrxn2 A T 19: 6,498,299 (GRCm39) T255S probably benign Het
Or10v9 A G 19: 11,832,666 (GRCm39) L217P probably damaging Het
Or10x4 A T 1: 174,218,649 (GRCm39) T5S probably damaging Het
Or11g25 T C 14: 50,723,707 (GRCm39) L264P probably damaging Het
Or2z2 T A 11: 58,345,999 (GRCm39) T259S possibly damaging Het
Or52k2 T A 7: 102,254,185 (GRCm39) I208N probably damaging Het
Or9m1 A T 2: 87,733,108 (GRCm39) M304K probably benign Het
Pamr1 T A 2: 102,464,766 (GRCm39) V305E probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Peg10 C T 6: 4,757,128 (GRCm39) T568M unknown Het
Polr3a A G 14: 24,519,416 (GRCm39) F664S probably damaging Het
Prb1a T A 6: 132,185,306 (GRCm39) N109I unknown Het
Prdm2 T C 4: 142,858,752 (GRCm39) I1513V probably benign Het
Prkd3 A C 17: 79,269,969 (GRCm39) V564G possibly damaging Het
Prss16 A G 13: 22,192,513 (GRCm39) S151P probably damaging Het
Rnf150 C T 8: 83,590,588 (GRCm39) probably benign Het
Rttn A G 18: 89,038,261 (GRCm39) T786A probably benign Het
Scin A G 12: 40,113,236 (GRCm39) V645A possibly damaging Het
Slc25a20 T A 9: 108,557,398 (GRCm39) M177K probably benign Het
Slc2a6 G A 2: 26,914,334 (GRCm39) S261L possibly damaging Het
Slc4a7 A T 14: 14,796,115 (GRCm38) D1118V probably damaging Het
Slc7a2 T C 8: 41,358,709 (GRCm39) W351R probably damaging Het
Sp8 G A 12: 118,812,174 (GRCm39) G10S probably damaging Het
St8sia2 A G 7: 73,616,513 (GRCm39) I175T probably damaging Het
Tas2r122 T A 6: 132,688,779 (GRCm39) N38I probably benign Het
Trim31 C T 17: 37,209,382 (GRCm39) T46M possibly damaging Het
Trim31 A G 17: 37,220,145 (GRCm39) K354E probably benign Het
Trio G A 15: 27,749,922 (GRCm39) Q2260* probably null Het
Trpm1 T C 7: 63,848,943 (GRCm39) I63T probably benign Het
Ugt2b37 T C 5: 87,399,636 (GRCm39) K291E probably benign Het
Usp54 T C 14: 20,627,162 (GRCm39) T499A probably benign Het
Vmn1r35 T C 6: 66,655,933 (GRCm39) I246V probably benign Het
Vmn2r6 A G 3: 64,464,277 (GRCm39) S186P probably benign Het
Vmn2r76 T A 7: 85,879,170 (GRCm39) M377L probably benign Het
Zeb2 A C 2: 44,878,637 (GRCm39) M1243R possibly damaging Het
Other mutations in Klhdc8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Klhdc8b APN 9 108,326,105 (GRCm39) missense probably benign 0.41
R0537:Klhdc8b UTSW 9 108,326,422 (GRCm39) missense possibly damaging 0.90
R0552:Klhdc8b UTSW 9 108,326,422 (GRCm39) missense possibly damaging 0.90
R1080:Klhdc8b UTSW 9 108,326,837 (GRCm39) missense probably benign 0.29
R1595:Klhdc8b UTSW 9 108,328,362 (GRCm39) missense probably damaging 0.99
R4976:Klhdc8b UTSW 9 108,328,386 (GRCm39) missense probably damaging 1.00
R5024:Klhdc8b UTSW 9 108,326,184 (GRCm39) intron probably benign
R5056:Klhdc8b UTSW 9 108,326,184 (GRCm39) intron probably benign
R5327:Klhdc8b UTSW 9 108,326,241 (GRCm39) intron probably benign
R5819:Klhdc8b UTSW 9 108,328,261 (GRCm39) missense probably benign 0.20
R6265:Klhdc8b UTSW 9 108,325,624 (GRCm39) missense probably damaging 1.00
R7420:Klhdc8b UTSW 9 108,326,317 (GRCm39) missense possibly damaging 0.59
R8871:Klhdc8b UTSW 9 108,326,871 (GRCm39) missense probably damaging 0.99
Z1176:Klhdc8b UTSW 9 108,325,576 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGATCCCTAATCTAGGCAACCTC -3'
(R):5'- CTAGGCCAAAGCTGGAATCC -3'

Sequencing Primer
(F):5'- TAGGCAACCTCCTGGACTC -3'
(R):5'- GGAATCCCAGTTCTCCTAGC -3'
Posted On 2022-01-20