Incidental Mutation 'IGL00157:Klhdc1'
ID 1080
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc1
Ensembl Gene ENSMUSG00000051890
Gene Name kelch domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00157
Quality Score
Status
Chromosome 12
Chromosomal Location 69241176-69284632 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69242008 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 31 (Y31N)
Ref Sequence ENSEMBL: ENSMUSP00000134180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063445] [ENSMUST00000173419]
AlphaFold Q80YG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000063445
AA Change: Y31N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: Y31N

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 noncoding transcript
Transcript: ENSMUST00000127791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146389
Predicted Effect possibly damaging
Transcript: ENSMUST00000173419
AA Change: Y31N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134180
Gene: ENSMUSG00000051890
AA Change: Y31N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220745
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,253,451 V331A possibly damaging Het
Casr C A 16: 36,495,810 V633F probably damaging Het
Cblb T G 16: 52,183,307 V716G probably benign Het
Cbln2 C T 18: 86,716,384 Q156* probably null Het
Cnn1 G T 9: 22,099,397 L14F possibly damaging Het
D830013O20Rik T C 12: 73,364,247 noncoding transcript Het
Drd1 A G 13: 54,053,878 S99P probably damaging Het
Fam35a A G 14: 34,268,625 V108A probably benign Het
Fat1 T C 8: 44,951,670 V486A possibly damaging Het
Galnt7 T C 8: 57,540,039 N416S probably damaging Het
Gm10735 T C 13: 113,041,484 probably benign Het
Gm8909 A T 17: 36,165,354 probably null Het
Jag2 T C 12: 112,912,718 T790A probably benign Het
Lama1 A T 17: 67,815,928 M2769L probably benign Het
Mms19 A G 19: 41,945,457 probably null Het
Msrb2 C A 2: 19,394,341 P172T probably damaging Het
Olfr228 T C 2: 86,483,218 S175G probably benign Het
Olfr955 A G 9: 39,470,243 V161A probably benign Het
Pcdhb9 T A 18: 37,403,279 D775E possibly damaging Het
Pkhd1 T C 1: 20,566,874 probably null Het
Preb A T 5: 30,955,964 D375E probably damaging Het
Prkdc T C 16: 15,697,226 I1010T probably damaging Het
Rbp2 A G 9: 98,498,897 probably null Het
Sept9 A G 11: 117,352,184 T66A probably damaging Het
Serpinb9b A T 13: 33,035,625 E178D probably benign Het
Tg A G 15: 66,847,166 Y258C probably damaging Het
Tmprss7 T C 16: 45,663,368 R548G probably benign Het
Uba7 G A 9: 107,979,111 A536T probably benign Het
Vmn2r114 G A 17: 23,291,665 P614S probably damaging Het
Xpc A G 6: 91,492,264 probably benign Het
Yrdc T C 4: 124,853,961 S86P probably damaging Het
Zbed6 G T 1: 133,657,376 A741D probably damaging Het
Other mutations in Klhdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Klhdc1 APN 12 69251977 missense probably damaging 0.97
IGL02086:Klhdc1 APN 12 69283184 missense probably benign 0.18
IGL02212:Klhdc1 APN 12 69250766 missense probably damaging 1.00
IGL02548:Klhdc1 APN 12 69253718 missense probably benign 0.00
IGL02861:Klhdc1 APN 12 69251451 missense possibly damaging 0.85
R0446:Klhdc1 UTSW 12 69283308 missense probably benign
R0656:Klhdc1 UTSW 12 69258030 missense probably benign
R1528:Klhdc1 UTSW 12 69263198 missense probably benign 0.02
R3001:Klhdc1 UTSW 12 69256209 missense possibly damaging 0.91
R3002:Klhdc1 UTSW 12 69256209 missense possibly damaging 0.91
R4428:Klhdc1 UTSW 12 69268226 intron probably benign
R4738:Klhdc1 UTSW 12 69283133 missense probably benign 0.07
R5009:Klhdc1 UTSW 12 69251938 missense possibly damaging 0.89
R5366:Klhdc1 UTSW 12 69283150 missense probably damaging 0.99
R5619:Klhdc1 UTSW 12 69258145 splice site probably null
R5662:Klhdc1 UTSW 12 69283165 missense probably benign 0.07
R5911:Klhdc1 UTSW 12 69256251 missense possibly damaging 0.80
R5995:Klhdc1 UTSW 12 69250774 missense probably damaging 1.00
R6708:Klhdc1 UTSW 12 69259530 missense possibly damaging 0.75
R6992:Klhdc1 UTSW 12 69253757 missense probably damaging 1.00
R7224:Klhdc1 UTSW 12 69263149 missense probably damaging 1.00
R7597:Klhdc1 UTSW 12 69269868 missense probably damaging 1.00
R7833:Klhdc1 UTSW 12 69283168 missense probably benign 0.12
R8826:Klhdc1 UTSW 12 69258618 missense probably damaging 1.00
R8828:Klhdc1 UTSW 12 69252034 missense probably damaging 1.00
R8880:Klhdc1 UTSW 12 69252043 missense possibly damaging 0.94
R8939:Klhdc1 UTSW 12 69253763 missense probably damaging 1.00
R9091:Klhdc1 UTSW 12 69263194 missense probably damaging 1.00
R9114:Klhdc1 UTSW 12 69242009 missense probably damaging 0.99
R9270:Klhdc1 UTSW 12 69263194 missense probably damaging 1.00
Posted On 2011-07-12