Incidental Mutation 'IGL01719:Klhdc7a'
ID105032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc7a
Ensembl Gene ENSMUSG00000078234
Gene Namekelch domain containing 7A
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01719
Quality Score
Status
Chromosome4
Chromosomal Location139960220-139968026 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 139966550 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 362 (L362P)
Ref Sequence ENSEMBL: ENSMUSP00000100648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105031]
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: 85,628,094 R1773Q probably benign Het
Ankk1 A G 9: 49,416,781 V366A probably benign Het
Antxr2 C T 5: 97,948,273 R384Q possibly damaging Het
Cdh13 G A 8: 118,675,188 V110M probably benign Het
Ctnna2 T A 6: 77,636,975 K198* probably null Het
Dpf3 C A 12: 83,294,433 S223I probably damaging Het
Galnt5 A G 2: 57,998,543 R52G probably damaging Het
Gm4787 G A 12: 81,377,174 R737C possibly damaging Het
Grin2b T A 6: 135,733,381 I1056F probably damaging Het
H2al2a T A 2: 17,996,635 H80L probably damaging Het
Hipk3 T C 2: 104,437,089 H601R possibly damaging Het
Hivep2 T C 10: 14,130,523 L955P probably damaging Het
Jund C T 8: 70,699,236 A60V possibly damaging Het
Lpar5 T G 6: 125,082,006 V230G possibly damaging Het
Lrba C T 3: 86,327,596 probably benign Het
Olfr739 T C 14: 50,424,561 F14S possibly damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Plekha5 A C 6: 140,570,129 E702D probably damaging Het
Ppt1 A G 4: 122,844,067 Y66C probably damaging Het
S1pr5 C A 9: 21,243,954 R392L probably benign Het
Slc37a2 T C 9: 37,234,178 T410A probably damaging Het
St18 A G 1: 6,845,796 probably benign Het
Taar7d T A 10: 24,027,967 M249K probably benign Het
Vwa5b2 T C 16: 20,597,433 probably null Het
Zan T A 5: 137,395,654 T4512S unknown Het
Other mutations in Klhdc7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Klhdc7a APN 4 139966925 missense probably benign 0.00
IGL01588:Klhdc7a APN 4 139966946 missense probably damaging 0.98
IGL01593:Klhdc7a APN 4 139966814 missense probably damaging 1.00
IGL02333:Klhdc7a APN 4 139967156 missense probably benign 0.07
IGL02481:Klhdc7a APN 4 139965810 missense probably benign 0.25
R0153:Klhdc7a UTSW 4 139967271 missense possibly damaging 0.83
R0385:Klhdc7a UTSW 4 139966705 missense probably benign
R1280:Klhdc7a UTSW 4 139965453 missense probably benign 0.01
R1456:Klhdc7a UTSW 4 139965524 missense possibly damaging 0.46
R1837:Klhdc7a UTSW 4 139967070 missense probably benign 0.31
R1838:Klhdc7a UTSW 4 139967070 missense probably benign 0.31
R1987:Klhdc7a UTSW 4 139966024 nonsense probably null
R2172:Klhdc7a UTSW 4 139965810 missense probably benign 0.25
R2220:Klhdc7a UTSW 4 139965453 missense probably benign 0.01
R3154:Klhdc7a UTSW 4 139965713 missense probably benign 0.20
R3155:Klhdc7a UTSW 4 139967189 missense probably benign 0.01
R4242:Klhdc7a UTSW 4 139966721 missense probably benign 0.01
R4349:Klhdc7a UTSW 4 139966277 missense possibly damaging 0.67
R5859:Klhdc7a UTSW 4 139967574 missense probably damaging 0.96
R6316:Klhdc7a UTSW 4 139966802 missense probably benign 0.00
R6342:Klhdc7a UTSW 4 139967059 missense probably benign 0.09
R6755:Klhdc7a UTSW 4 139966475 missense possibly damaging 0.80
R7528:Klhdc7a UTSW 4 139967517 missense probably damaging 1.00
R7648:Klhdc7a UTSW 4 139965939 missense possibly damaging 0.66
R7842:Klhdc7a UTSW 4 139967238 missense probably damaging 0.97
R7843:Klhdc7a UTSW 4 139966844 missense possibly damaging 0.87
R7925:Klhdc7a UTSW 4 139967238 missense probably damaging 0.97
R7926:Klhdc7a UTSW 4 139966844 missense possibly damaging 0.87
X0002:Klhdc7a UTSW 4 139966364 small deletion probably benign
Z1176:Klhdc7a UTSW 4 139967797
Z1177:Klhdc7a UTSW 4 139965662 missense not run
Z1177:Klhdc7a UTSW 4 139967000 missense not run
Posted On2014-01-21