Incidental Mutation 'IGL01719:Klhdc7a'
ID 105032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc7a
Ensembl Gene ENSMUSG00000078234
Gene Name kelch domain containing 7A
Synonyms B230308G19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01719
Quality Score
Status
Chromosome 4
Chromosomal Location 139689484-139695337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139693861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 362 (L362P)
Ref Sequence ENSEMBL: ENSMUSP00000100648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105031]
AlphaFold A2APT9
Predicted Effect probably damaging
Transcript: ENSMUST00000105031
AA Change: L362P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: L362P

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
low complexity region 81 93 N/A INTRINSIC
low complexity region 339 354 N/A INTRINSIC
Kelch 537 585 4.83e-2 SMART
Kelch 586 631 4.98e-4 SMART
low complexity region 756 769 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158669
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Ankk1 A G 9: 49,328,081 (GRCm39) V366A probably benign Het
Antxr2 C T 5: 98,096,132 (GRCm39) R384Q possibly damaging Het
Cdh13 G A 8: 119,401,927 (GRCm39) V110M probably benign Het
Ctnna2 T A 6: 77,613,958 (GRCm39) K198* probably null Het
Dpf3 C A 12: 83,341,207 (GRCm39) S223I probably damaging Het
Galnt5 A G 2: 57,888,555 (GRCm39) R52G probably damaging Het
Gm4787 G A 12: 81,423,948 (GRCm39) R737C possibly damaging Het
Grin2b T A 6: 135,710,379 (GRCm39) I1056F probably damaging Het
H2al2a T A 2: 18,001,446 (GRCm39) H80L probably damaging Het
Hipk3 T C 2: 104,267,434 (GRCm39) H601R possibly damaging Het
Hivep2 T C 10: 14,006,267 (GRCm39) L955P probably damaging Het
Jund C T 8: 71,151,885 (GRCm39) A60V possibly damaging Het
Lpar5 T G 6: 125,058,969 (GRCm39) V230G possibly damaging Het
Lrba C T 3: 86,234,903 (GRCm39) probably benign Het
Or11g24 T C 14: 50,662,018 (GRCm39) F14S possibly damaging Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Plekha5 A C 6: 140,515,855 (GRCm39) E702D probably damaging Het
Ppt1 A G 4: 122,737,860 (GRCm39) Y66C probably damaging Het
S1pr5 C A 9: 21,155,250 (GRCm39) R392L probably benign Het
Slc37a2 T C 9: 37,145,474 (GRCm39) T410A probably damaging Het
St18 A G 1: 6,916,020 (GRCm39) probably benign Het
Taar7d T A 10: 23,903,865 (GRCm39) M249K probably benign Het
Vwa5b2 T C 16: 20,416,183 (GRCm39) probably null Het
Zan T A 5: 137,393,916 (GRCm39) T4512S unknown Het
Other mutations in Klhdc7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Klhdc7a APN 4 139,694,236 (GRCm39) missense probably benign 0.00
IGL01588:Klhdc7a APN 4 139,694,257 (GRCm39) missense probably damaging 0.98
IGL01593:Klhdc7a APN 4 139,694,125 (GRCm39) missense probably damaging 1.00
IGL02333:Klhdc7a APN 4 139,694,467 (GRCm39) missense probably benign 0.07
IGL02481:Klhdc7a APN 4 139,693,121 (GRCm39) missense probably benign 0.25
R0153:Klhdc7a UTSW 4 139,694,582 (GRCm39) missense possibly damaging 0.83
R0385:Klhdc7a UTSW 4 139,694,016 (GRCm39) missense probably benign
R1280:Klhdc7a UTSW 4 139,692,764 (GRCm39) missense probably benign 0.01
R1456:Klhdc7a UTSW 4 139,692,835 (GRCm39) missense possibly damaging 0.46
R1837:Klhdc7a UTSW 4 139,694,381 (GRCm39) missense probably benign 0.31
R1838:Klhdc7a UTSW 4 139,694,381 (GRCm39) missense probably benign 0.31
R1987:Klhdc7a UTSW 4 139,693,335 (GRCm39) nonsense probably null
R2172:Klhdc7a UTSW 4 139,693,121 (GRCm39) missense probably benign 0.25
R2220:Klhdc7a UTSW 4 139,692,764 (GRCm39) missense probably benign 0.01
R3154:Klhdc7a UTSW 4 139,693,024 (GRCm39) missense probably benign 0.20
R3155:Klhdc7a UTSW 4 139,694,500 (GRCm39) missense probably benign 0.01
R4242:Klhdc7a UTSW 4 139,694,032 (GRCm39) missense probably benign 0.01
R4349:Klhdc7a UTSW 4 139,693,588 (GRCm39) missense possibly damaging 0.67
R5859:Klhdc7a UTSW 4 139,694,885 (GRCm39) missense probably damaging 0.96
R6316:Klhdc7a UTSW 4 139,694,113 (GRCm39) missense probably benign 0.00
R6342:Klhdc7a UTSW 4 139,694,370 (GRCm39) missense probably benign 0.09
R6755:Klhdc7a UTSW 4 139,693,786 (GRCm39) missense possibly damaging 0.80
R7528:Klhdc7a UTSW 4 139,694,828 (GRCm39) missense probably damaging 1.00
R7648:Klhdc7a UTSW 4 139,693,250 (GRCm39) missense possibly damaging 0.66
R7842:Klhdc7a UTSW 4 139,694,549 (GRCm39) missense probably damaging 0.97
R7843:Klhdc7a UTSW 4 139,694,155 (GRCm39) missense possibly damaging 0.87
R7992:Klhdc7a UTSW 4 139,693,045 (GRCm39) missense probably damaging 1.00
R8476:Klhdc7a UTSW 4 139,693,051 (GRCm39) missense probably damaging 1.00
R8874:Klhdc7a UTSW 4 139,694,896 (GRCm39) missense probably damaging 0.99
R9334:Klhdc7a UTSW 4 139,693,493 (GRCm39) missense probably benign 0.14
X0002:Klhdc7a UTSW 4 139,693,675 (GRCm39) small deletion probably benign
Z1176:Klhdc7a UTSW 4 139,695,108 (GRCm39) start gained probably benign
Z1177:Klhdc7a UTSW 4 139,694,311 (GRCm39) missense probably benign 0.00
Z1177:Klhdc7a UTSW 4 139,692,973 (GRCm39) missense probably benign 0.14
Z1187:Klhdc7a UTSW 4 139,693,852 (GRCm39) missense probably damaging 1.00
Z1190:Klhdc7a UTSW 4 139,693,852 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21