Incidental Mutation 'IGL02086:Klhdc1'
ID 285472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc1
Ensembl Gene ENSMUSG00000051890
Gene Name kelch domain containing 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02086
Quality Score
Status
Chromosome 12
Chromosomal Location 69287950-69331406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69329958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 362 (I362M)
Ref Sequence ENSEMBL: ENSMUSP00000068046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063445] [ENSMUST00000173419]
AlphaFold Q80YG3
Predicted Effect probably benign
Transcript: ENSMUST00000063445
AA Change: I362M

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: I362M

DomainStartEndE-ValueType
Pfam:Kelch_5 11 54 4.4e-11 PFAM
Pfam:Kelch_4 67 122 4.4e-7 PFAM
Pfam:Kelch_6 67 124 1.7e-7 PFAM
Pfam:Kelch_3 79 125 1.8e-8 PFAM
Pfam:Kelch_3 170 205 2.5e-7 PFAM
Pfam:Kelch_2 196 235 2.8e-8 PFAM
Pfam:Kelch_1 196 236 1.4e-6 PFAM
Pfam:Kelch_4 196 245 5.5e-7 PFAM
Pfam:Kelch_3 206 256 3.9e-8 PFAM
Pfam:Kelch_4 247 295 5.3e-10 PFAM
Pfam:Kelch_3 258 307 1.7e-7 PFAM
low complexity region 364 376 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173419
SMART Domains Protein: ENSMUSP00000134180
Gene: ENSMUSG00000051890

DomainStartEndE-ValueType
Pfam:Kelch_5 11 54 4.7e-11 PFAM
Pfam:Kelch_4 67 123 1.7e-8 PFAM
Pfam:Kelch_6 67 124 5.6e-8 PFAM
Pfam:Kelch_1 68 116 3.2e-6 PFAM
Pfam:Kelch_3 78 126 3.1e-9 PFAM
Pfam:Kelch_3 165 205 2.8e-8 PFAM
Pfam:Kelch_5 193 237 2.7e-6 PFAM
Pfam:Kelch_2 196 235 1.8e-8 PFAM
Pfam:Kelch_6 196 237 2.6e-8 PFAM
Pfam:Kelch_4 196 245 2e-7 PFAM
Pfam:Kelch_3 206 256 2.1e-7 PFAM
Pfam:Kelch_5 245 285 2.4e-6 PFAM
Pfam:Kelch_4 247 299 3.5e-11 PFAM
Pfam:Kelch_6 247 299 3.2e-8 PFAM
Pfam:Kelch_3 258 301 1.2e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Klhdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Klhdc1 APN 12 69,288,782 (GRCm39) missense possibly damaging 0.92
IGL01432:Klhdc1 APN 12 69,298,751 (GRCm39) missense probably damaging 0.97
IGL02212:Klhdc1 APN 12 69,297,540 (GRCm39) missense probably damaging 1.00
IGL02548:Klhdc1 APN 12 69,300,492 (GRCm39) missense probably benign 0.00
IGL02861:Klhdc1 APN 12 69,298,225 (GRCm39) missense possibly damaging 0.85
R0446:Klhdc1 UTSW 12 69,330,082 (GRCm39) missense probably benign
R0656:Klhdc1 UTSW 12 69,304,804 (GRCm39) missense probably benign
R1528:Klhdc1 UTSW 12 69,309,972 (GRCm39) missense probably benign 0.02
R3001:Klhdc1 UTSW 12 69,302,983 (GRCm39) missense possibly damaging 0.91
R3002:Klhdc1 UTSW 12 69,302,983 (GRCm39) missense possibly damaging 0.91
R4428:Klhdc1 UTSW 12 69,315,000 (GRCm39) intron probably benign
R4738:Klhdc1 UTSW 12 69,329,907 (GRCm39) missense probably benign 0.07
R5009:Klhdc1 UTSW 12 69,298,712 (GRCm39) missense possibly damaging 0.89
R5366:Klhdc1 UTSW 12 69,329,924 (GRCm39) missense probably damaging 0.99
R5619:Klhdc1 UTSW 12 69,304,919 (GRCm39) splice site probably null
R5662:Klhdc1 UTSW 12 69,329,939 (GRCm39) missense probably benign 0.07
R5911:Klhdc1 UTSW 12 69,303,025 (GRCm39) missense possibly damaging 0.80
R5995:Klhdc1 UTSW 12 69,297,548 (GRCm39) missense probably damaging 1.00
R6708:Klhdc1 UTSW 12 69,306,304 (GRCm39) missense possibly damaging 0.75
R6992:Klhdc1 UTSW 12 69,300,531 (GRCm39) missense probably damaging 1.00
R7224:Klhdc1 UTSW 12 69,309,923 (GRCm39) missense probably damaging 1.00
R7597:Klhdc1 UTSW 12 69,316,642 (GRCm39) missense probably damaging 1.00
R7833:Klhdc1 UTSW 12 69,329,942 (GRCm39) missense probably benign 0.12
R8826:Klhdc1 UTSW 12 69,305,392 (GRCm39) missense probably damaging 1.00
R8828:Klhdc1 UTSW 12 69,298,808 (GRCm39) missense probably damaging 1.00
R8880:Klhdc1 UTSW 12 69,298,817 (GRCm39) missense possibly damaging 0.94
R8939:Klhdc1 UTSW 12 69,300,537 (GRCm39) missense probably damaging 1.00
R9091:Klhdc1 UTSW 12 69,309,968 (GRCm39) missense probably damaging 1.00
R9114:Klhdc1 UTSW 12 69,288,783 (GRCm39) missense probably damaging 0.99
R9270:Klhdc1 UTSW 12 69,309,968 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16