Incidental Mutation 'IGL01588:Klhdc7a'
ID91501
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 #IGL01588
Quality Score
Status
Chromosome4
Chromosomal Location139960220-139968026 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 139966946 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 230 (V230D)
Ref Sequence ENSEMBL: ENSMUSP00000100648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105031]
Predicted Effect probably damaging
Transcript: ENSMUST00000105031
AA Change: V230D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: V230D

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T A 1: 139,478,162 S1596T probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Csn2 T C 5: 87,694,649 H165R probably benign Het
Dido1 A G 2: 180,688,875 V260A probably benign Het
Ece1 C T 4: 137,957,206 probably benign Het
Garem1 T G 18: 21,129,797 R653S probably damaging Het
Gpatch2 A T 1: 187,230,794 S261C probably damaging Het
Ing4 A G 6: 125,043,986 N24D possibly damaging Het
Ly96 G A 1: 16,709,454 V116I probably benign Het
Myom1 C T 17: 71,117,437 T1427M possibly damaging Het
Nedd1 C A 10: 92,686,262 V638L probably benign Het
Olfr1161 T C 2: 88,025,073 V117A probably benign Het
Olfr653 C T 7: 104,579,943 S99F probably damaging Het
Olfr948 G A 9: 39,318,832 Q261* probably null Het
Pbx2 T C 17: 34,595,618 probably benign Het
Phlpp1 A T 1: 106,380,389 H1132L probably damaging Het
Plpp5 T A 8: 25,724,168 H237Q probably damaging Het
Stard13 C T 5: 151,045,237 R856H probably damaging Het
Sult1e1 T C 5: 87,576,243 K285R probably benign Het
Ubxn8 C T 8: 33,621,559 V269M probably damaging Het
Usp29 A T 7: 6,962,611 K484N probably benign Het
Whrn C T 4: 63,472,778 V80M probably damaging Het
Znhit6 A G 3: 145,596,207 probably benign Het
Other mutations in Klhdc7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Klhdc7a APN 4 139966925 missense probably benign 0.00
IGL01593:Klhdc7a APN 4 139966814 missense probably damaging 1.00
IGL01719:Klhdc7a APN 4 139966550 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
Z1177:Klhdc7a UTSW 4 139967000
Posted On2013-12-09