Incidental Mutation 'IGL01593:Klhdc7a'
ID 91639
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 # IGL01593
Quality Score
Status
Chromosome 4
Chromosomal Location 139689484-139695337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139694125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 274 (I274T)
Ref Sequence ENSEMBL: ENSMUSP00000100648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105031]
AlphaFold A2APT9
Predicted Effect probably damaging
Transcript: ENSMUST00000105031
AA Change: I274T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: I274T

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,284,279 (GRCm39) I310N probably damaging Het
Abtb3 T A 10: 85,490,339 (GRCm39) probably benign Het
Ackr4 C T 9: 103,963,130 (GRCm39) probably benign Het
Ankib1 A T 5: 3,782,590 (GRCm39) D346E probably benign Het
Asap2 G T 12: 21,263,203 (GRCm39) A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 (GRCm39) R219L probably damaging Het
Atp6v1e2 A T 17: 87,251,727 (GRCm39) F224I probably damaging Het
Bnc2 T C 4: 84,194,478 (GRCm39) probably null Het
Cd33 A G 7: 43,179,705 (GRCm39) L241P possibly damaging Het
Clec4g A T 8: 3,769,474 (GRCm39) probably null Het
Dym C T 18: 75,247,852 (GRCm39) probably benign Het
Enpp5 A G 17: 44,391,612 (GRCm39) T14A probably benign Het
Ggt1 T C 10: 75,421,121 (GRCm39) probably null Het
Gm17541 T A 12: 4,739,868 (GRCm39) probably benign Het
Gpr39 A T 1: 125,605,188 (GRCm39) I39F probably benign Het
Kcnb1 G T 2: 166,948,127 (GRCm39) F240L probably damaging Het
Kcnt1 T A 2: 25,788,766 (GRCm39) V400E probably damaging Het
Lrwd1 A T 5: 136,163,483 (GRCm39) L71Q probably damaging Het
Mycbp2 A T 14: 103,528,723 (GRCm39) probably null Het
Nckap1 A T 2: 80,350,914 (GRCm39) M725K probably benign Het
Odad2 T C 18: 7,127,345 (GRCm39) K956R probably benign Het
Or2b7 T A 13: 21,739,389 (GRCm39) I268F probably damaging Het
Pole2 C T 12: 69,269,873 (GRCm39) probably null Het
Prss32 A G 17: 24,074,982 (GRCm39) T111A probably benign Het
Rgs9 A G 11: 109,139,875 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,835,654 (GRCm39) C361R probably damaging Het
Ston1 G A 17: 88,944,438 (GRCm39) G615R probably null Het
Tas2r139 T G 6: 42,117,891 (GRCm39) W8G probably benign Het
Tmem101 A T 11: 102,046,704 (GRCm39) L55Q probably damaging Het
Tnni3k T C 3: 154,646,666 (GRCm39) probably null Het
Uba2 A G 7: 33,845,689 (GRCm39) V478A probably damaging Het
Vps13a T C 19: 16,739,545 (GRCm39) D52G probably damaging 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
IGL01719:Klhdc7a APN 4 139,693,861 (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 2013-12-09