Incidental Mutation 'IGL01593:Klhdc7a'
ID91639
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 #IGL01593
Quality Score
Status
Chromosome4
Chromosomal Location139960220-139968026 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 139966814 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 274 (I274T)
Ref Sequence ENSEMBL: ENSMUSP00000100648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105031]
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: 86,557,650 I310N probably damaging Het
Ackr4 C T 9: 104,085,931 probably benign Het
Ankib1 A T 5: 3,732,590 D346E probably benign Het
Armc4 T C 18: 7,127,345 K956R probably benign Het
Asap2 G T 12: 21,213,202 A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 R219L probably damaging Het
Atp6v1e2 A T 17: 86,944,299 F224I probably damaging Het
Bnc2 T C 4: 84,276,241 probably null Het
Btbd11 T A 10: 85,654,475 probably benign Het
Cd33 A G 7: 43,530,281 L241P possibly damaging Het
Clec4g A T 8: 3,719,474 probably null Het
Dym C T 18: 75,114,781 probably benign Het
Enpp5 A G 17: 44,080,721 T14A probably benign Het
Ggt1 T C 10: 75,585,287 probably null Het
Gm17541 T A 12: 4,689,868 probably benign Het
Gpr39 A T 1: 125,677,451 I39F probably benign Het
Kcnb1 G T 2: 167,106,207 F240L probably damaging Het
Kcnt1 T A 2: 25,898,754 V400E probably damaging Het
Lrwd1 A T 5: 136,134,629 L71Q probably damaging Het
Mycbp2 A T 14: 103,291,287 probably null Het
Nckap1 A T 2: 80,520,570 M725K probably benign Het
Olfr1535 T A 13: 21,555,219 I268F probably damaging Het
Pole2 C T 12: 69,223,099 probably null Het
Prss32 A G 17: 23,856,008 T111A probably benign Het
Rgs9 A G 11: 109,249,049 probably benign Het
Slc2a4 A G 11: 69,944,828 C361R probably damaging Het
Ston1 G A 17: 88,637,010 G615R probably null Het
Tas2r139 T G 6: 42,140,957 W8G probably benign Het
Tmem101 A T 11: 102,155,878 L55Q probably damaging Het
Tnni3k T C 3: 154,941,029 probably null Het
Uba2 A G 7: 34,146,264 V478A probably damaging Het
Vps13a T C 19: 16,762,181 D52G probably damaging 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
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
X0002:Klhdc7a UTSW 4 139966364 small deletion probably benign
Posted On2013-12-09