Incidental Mutation 'IGL00900:Klhdc2'
ID 28696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc2
Ensembl Gene ENSMUSG00000020978
Gene Name kelch domain containing 2
Synonyms D12Ertd522e, HCLP-1, 2310022K15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00900
Quality Score
Status
Chromosome 12
Chromosomal Location 69343455-69357461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69350308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 118 (F118I)
Ref Sequence ENSEMBL: ENSMUSP00000021362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021362]
AlphaFold Q4G5Y1
Predicted Effect probably benign
Transcript: ENSMUST00000021362
AA Change: F118I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000021362
Gene: ENSMUSG00000020978
AA Change: F118I

DomainStartEndE-ValueType
internal_repeat_1 7 117 3.66e-6 PROSPERO
internal_repeat_2 66 163 6.25e-5 PROSPERO
Pfam:Kelch_1 217 258 1.4e-6 PFAM
Pfam:Kelch_2 217 262 1.2e-7 PFAM
Pfam:Kelch_4 217 266 8.4e-8 PFAM
Pfam:Kelch_3 227 276 5.1e-9 PFAM
Pfam:Kelch_5 265 305 1.4e-6 PFAM
Pfam:Kelch_4 267 310 2e-9 PFAM
Pfam:Kelch_3 278 326 1.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154667
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,361,383 (GRCm39) probably benign Het
Agap3 G A 5: 24,681,366 (GRCm39) probably benign Het
Angptl2 A T 2: 33,133,784 (GRCm39) M369L probably benign Het
Arhgef11 A G 3: 87,590,867 (GRCm39) D36G possibly damaging Het
Ccnt1 A G 15: 98,452,514 (GRCm39) V134A probably damaging Het
Ces1e T C 8: 93,944,245 (GRCm39) H191R probably damaging Het
Dhh A G 15: 98,796,101 (GRCm39) probably benign Het
Edil3 C A 13: 89,437,652 (GRCm39) H418N probably benign Het
Fam161b T C 12: 84,402,743 (GRCm39) I296V probably benign Het
Focad T A 4: 88,047,260 (GRCm39) N86K probably damaging Het
Foxn1 C T 11: 78,262,109 (GRCm39) G87S probably benign Het
Glipr1l2 T C 10: 111,933,887 (GRCm39) Y220H probably benign Het
Hnrnpa1 A G 15: 103,152,166 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ipo11 T C 13: 106,983,952 (GRCm39) M797V possibly damaging Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Mtap T A 4: 89,090,594 (GRCm39) Y221* probably null Het
Myh2 T C 11: 67,070,210 (GRCm39) V414A probably damaging Het
Ncor2 A T 5: 125,102,848 (GRCm39) Y1999N probably damaging Het
Or5d39 A G 2: 87,979,604 (GRCm39) F253S possibly damaging Het
Oxsm A G 14: 16,242,023 (GRCm38) S249P probably damaging Het
Pabpc4l T A 3: 46,401,507 (GRCm39) I46F possibly damaging Het
Pcnx2 A G 8: 126,589,975 (GRCm39) probably benign Het
Rasal2 A G 1: 157,239,499 (GRCm39) S4P possibly damaging Het
Reln A G 5: 22,185,115 (GRCm39) V1534A probably damaging Het
Rnf138 T A 18: 21,154,017 (GRCm39) D174E possibly damaging Het
Sh3pxd2a T A 19: 47,302,594 (GRCm39) N162Y probably benign Het
Slc6a4 A T 11: 76,914,006 (GRCm39) T519S probably benign Het
Slfn9 A T 11: 82,872,197 (GRCm39) C846* probably null Het
Trip12 A G 1: 84,702,485 (GRCm39) S1945P possibly damaging Het
Vmn1r232 A G 17: 21,134,394 (GRCm39) F69L probably benign Het
Zeb2 T C 2: 44,887,287 (GRCm39) D545G probably damaging Het
Other mutations in Klhdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Klhdc2 APN 12 69,353,987 (GRCm39) missense probably benign 0.30
IGL01024:Klhdc2 APN 12 69,352,610 (GRCm39) missense probably benign 0.01
IGL01457:Klhdc2 APN 12 69,343,827 (GRCm39) missense probably benign
IGL01735:Klhdc2 APN 12 69,347,053 (GRCm39) missense probably benign 0.39
IGL01913:Klhdc2 APN 12 69,349,132 (GRCm39) missense probably benign 0.45
IGL02440:Klhdc2 APN 12 69,350,414 (GRCm39) missense probably damaging 1.00
Dixit_dominus UTSW 12 69,355,750 (GRCm39) nonsense probably null
R0611:Klhdc2 UTSW 12 69,347,053 (GRCm39) missense probably benign 0.22
R0724:Klhdc2 UTSW 12 69,343,822 (GRCm39) missense probably benign
R1350:Klhdc2 UTSW 12 69,352,484 (GRCm39) critical splice donor site probably null
R1796:Klhdc2 UTSW 12 69,347,071 (GRCm39) critical splice donor site probably null
R1907:Klhdc2 UTSW 12 69,343,734 (GRCm39) start gained probably benign
R4418:Klhdc2 UTSW 12 69,354,371 (GRCm39) unclassified probably benign
R5119:Klhdc2 UTSW 12 69,343,736 (GRCm39) utr 5 prime probably benign
R5586:Klhdc2 UTSW 12 69,354,467 (GRCm39) splice site probably null
R5987:Klhdc2 UTSW 12 69,350,387 (GRCm39) missense possibly damaging 0.71
R6448:Klhdc2 UTSW 12 69,350,694 (GRCm39) missense probably benign
R6848:Klhdc2 UTSW 12 69,355,750 (GRCm39) nonsense probably null
R7824:Klhdc2 UTSW 12 69,354,002 (GRCm39) missense probably damaging 0.98
R7844:Klhdc2 UTSW 12 69,349,180 (GRCm39) missense probably damaging 1.00
R7886:Klhdc2 UTSW 12 69,351,406 (GRCm39) splice site probably null
R8963:Klhdc2 UTSW 12 69,347,065 (GRCm39) nonsense probably null
R9775:Klhdc2 UTSW 12 69,350,393 (GRCm39) missense probably damaging 0.99
R9790:Klhdc2 UTSW 12 69,346,995 (GRCm39) missense probably benign 0.01
R9791:Klhdc2 UTSW 12 69,346,995 (GRCm39) missense probably benign 0.01
RF016:Klhdc2 UTSW 12 69,350,660 (GRCm39) missense probably damaging 0.97
Posted On 2013-04-17