Incidental Mutation 'R0411:Klhdc9'
ID 36633
Institutional Source Beutler Lab
Gene Symbol Klhdc9
Ensembl Gene ENSMUSG00000045259
Gene Name kelch domain containing 9
Synonyms 1190002J23Rik, ESTM31
MMRRC Submission 038613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R0411 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171186017-171188366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171187353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 215 (V215A)
Ref Sequence ENSEMBL: ENSMUSP00000056212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006579] [ENSMUST00000061878] [ENSMUST00000135941]
AlphaFold Q3USL1
Predicted Effect probably benign
Transcript: ENSMUST00000006579
SMART Domains Protein: ENSMUSP00000006579
Gene: ENSMUSG00000006412

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Prefoldin_2 18 93 3e-24 PFAM
low complexity region 102 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061878
AA Change: V215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056212
Gene: ENSMUSG00000045259
AA Change: V215A

DomainStartEndE-ValueType
Pfam:Kelch_5 255 297 8.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135941
SMART Domains Protein: ENSMUSP00000120106
Gene: ENSMUSG00000006412

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:Prefoldin_2 24 129 3.3e-32 PFAM
low complexity region 139 150 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193676
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,053,834 (GRCm39) probably benign Het
6030469F06Rik A T 12: 31,234,730 (GRCm39) noncoding transcript Het
Acad11 T C 9: 103,993,495 (GRCm39) F541L probably damaging Het
Acin1 G T 14: 54,884,231 (GRCm39) R92S probably damaging Het
Appl1 A G 14: 26,662,213 (GRCm39) S490P probably benign Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Arih1 A T 9: 59,393,266 (GRCm39) I122N possibly damaging Het
Bmi1 T C 2: 18,687,983 (GRCm39) probably benign Het
Bmpr1a G A 14: 34,137,834 (GRCm39) T391I possibly damaging Het
Cacna1s A G 1: 136,041,041 (GRCm39) K1256E probably damaging Het
Cacng3 C T 7: 122,367,795 (GRCm39) P225L probably damaging Het
Cd101 A T 3: 100,925,843 (GRCm39) probably null Het
Cd55 A G 1: 130,390,294 (GRCm39) probably benign Het
Cenpe T C 3: 134,928,016 (GRCm39) I258T probably damaging Het
Cfap251 C T 5: 123,428,117 (GRCm39) T538M probably damaging Het
Cma2 A G 14: 56,211,135 (GRCm39) probably benign Het
Ddost T A 4: 138,036,964 (GRCm39) S176T probably benign Het
Ddx19b A T 8: 111,750,596 (GRCm39) probably null Het
Dmxl2 A G 9: 54,286,223 (GRCm39) I2681T probably damaging Het
Ern1 C T 11: 106,289,412 (GRCm39) E964K probably benign Het
Exoc1l G T 5: 76,648,334 (GRCm39) V47L possibly damaging Het
Galntl5 C T 5: 25,425,172 (GRCm39) R430C probably benign Het
Gga3 A G 11: 115,478,259 (GRCm39) L511P probably damaging Het
Gria2 C T 3: 80,618,165 (GRCm39) probably benign Het
Hmbs A T 9: 44,252,949 (GRCm39) L28* probably null Het
Iffo2 A G 4: 139,330,532 (GRCm39) E220G probably damaging Het
Ifi30 A G 8: 71,217,562 (GRCm39) probably benign Het
Irf2 T A 8: 47,299,096 (GRCm39) C297S probably benign Het
Izumo4 T C 10: 80,538,918 (GRCm39) Y94H probably damaging Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Kmt2c A T 5: 25,580,955 (GRCm39) C513S probably damaging Het
Lyg1 A T 1: 37,988,977 (GRCm39) M81K possibly damaging Het
Maip1 T G 1: 57,454,852 (GRCm39) W279G probably damaging Het
Myo7a T C 7: 97,721,144 (GRCm39) T1263A probably benign Het
Naa15 T A 3: 51,373,060 (GRCm39) I701N possibly damaging Het
Ncoa3 A G 2: 165,910,463 (GRCm39) N1292S probably benign Het
Necab2 T A 8: 120,180,979 (GRCm39) probably benign Het
Nfatc1 T A 18: 80,741,257 (GRCm39) I234F possibly damaging Het
Olfm1 G A 2: 28,098,223 (GRCm39) R95K possibly damaging Het
Or10ag56 A G 2: 87,139,402 (GRCm39) T90A probably benign Het
Or10ak8 A T 4: 118,773,823 (GRCm39) N280K possibly damaging Het
Otoa T C 7: 120,755,750 (GRCm39) probably null Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pard6g A G 18: 80,160,337 (GRCm39) D150G probably damaging Het
Pax5 A G 4: 44,609,783 (GRCm39) L215S probably damaging Het
Pja2 A T 17: 64,594,516 (GRCm39) probably benign Het
Plk4 T A 3: 40,765,654 (GRCm39) probably benign Het
Polr1a A T 6: 71,955,405 (GRCm39) H1687L possibly damaging Het
Ptcd2 G A 13: 99,479,899 (GRCm39) L41F probably damaging Het
Ropn1 T A 16: 34,490,334 (GRCm39) S62T probably benign Het
Setd1a T C 7: 127,395,223 (GRCm39) probably benign Het
Setdb1 T C 3: 95,234,997 (GRCm39) D902G probably damaging Het
Sik3 T A 9: 46,120,068 (GRCm39) L719Q probably damaging Het
Slc36a1 G T 11: 55,123,333 (GRCm39) V433F probably benign Het
Slc6a3 T C 13: 73,705,169 (GRCm39) V220A possibly damaging Het
Slc6a5 A T 7: 49,561,539 (GRCm39) R24W probably damaging Het
Smox G T 2: 131,362,564 (GRCm39) R281L probably benign Het
Sulf2 G T 2: 165,935,436 (GRCm39) H226N probably damaging Het
Syne2 C T 12: 76,106,358 (GRCm39) probably null Het
Tenm3 C T 8: 48,740,826 (GRCm39) S1210N possibly damaging Het
Tns1 A T 1: 73,964,920 (GRCm39) V1237E probably damaging Het
Trf C T 9: 103,094,700 (GRCm39) V92M probably damaging Het
Ttn A G 2: 76,539,717 (GRCm39) V34423A possibly damaging Het
Vmn2r118 A G 17: 55,918,021 (GRCm39) probably benign Het
Vmn2r19 A G 6: 123,286,703 (GRCm39) Y112C probably damaging Het
Zfp326 G T 5: 106,026,641 (GRCm39) A15S possibly damaging Het
Other mutations in Klhdc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Klhdc9 APN 1 171,186,384 (GRCm39) makesense probably null
PIT4585001:Klhdc9 UTSW 1 171,187,386 (GRCm39) missense possibly damaging 0.90
R0675:Klhdc9 UTSW 1 171,187,895 (GRCm39) missense possibly damaging 0.62
R1643:Klhdc9 UTSW 1 171,187,034 (GRCm39) splice site probably null
R1651:Klhdc9 UTSW 1 171,188,016 (GRCm39) missense probably benign
R2019:Klhdc9 UTSW 1 171,186,509 (GRCm39) missense probably damaging 0.98
R4937:Klhdc9 UTSW 1 171,187,951 (GRCm39) nonsense probably null
R7172:Klhdc9 UTSW 1 171,188,228 (GRCm39) start codon destroyed probably null 0.77
R8298:Klhdc9 UTSW 1 171,186,429 (GRCm39) missense probably damaging 1.00
R8730:Klhdc9 UTSW 1 171,186,488 (GRCm39) missense probably damaging 1.00
R9567:Klhdc9 UTSW 1 171,187,914 (GRCm39) missense probably benign 0.00
R9607:Klhdc9 UTSW 1 171,187,124 (GRCm39) missense probably damaging 1.00
R9660:Klhdc9 UTSW 1 171,187,357 (GRCm39) missense probably damaging 0.99
R9728:Klhdc9 UTSW 1 171,187,357 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTCCCACCACTGAACAGGAATGATG -3'
(R):5'- GGACCACAGGACCCGAACTTATTG -3'

Sequencing Primer
(F):5'- AATGATGGCGCAGGCTC -3'
(R):5'- GCTCTCTGGCAAAGAACACTTG -3'
Posted On 2013-05-09