Incidental Mutation 'IGL03149:Klhl7'
ID411038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl7
Ensembl Gene ENSMUSG00000028986
Gene Namekelch-like 7
Synonyms2700038B03Rik, SBBI26, D5Ertd363e, Klhl6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #IGL03149
Quality Score
Status
Chromosome5
Chromosomal Location24100605-24160792 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 24159689 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 574 (V574I)
Ref Sequence ENSEMBL: ENSMUSP00000030841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030841] [ENSMUST00000163409] [ENSMUST00000200116]
Predicted Effect probably benign
Transcript: ENSMUST00000030841
AA Change: V574I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: V574I

DomainStartEndE-ValueType
low complexity region 7 28 N/A INTRINSIC
BTB 44 141 7.49e-29 SMART
BACK 146 248 8.42e-36 SMART
Kelch 337 382 7.5e0 SMART
Kelch 383 430 1.97e-7 SMART
Kelch 431 481 2.25e-11 SMART
Kelch 482 528 4.4e-5 SMART
Blast:Kelch 529 576 1e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000163409
SMART Domains Protein: ENSMUSP00000129461
Gene: ENSMUSG00000028986

DomainStartEndE-ValueType
low complexity region 7 28 N/A INTRINSIC
BTB 44 141 7.49e-29 SMART
BACK 146 248 8.42e-36 SMART
Kelch 337 382 7.5e0 SMART
Kelch 383 430 1.97e-7 SMART
Kelch 431 470 4.1e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196080
Predicted Effect probably benign
Transcript: ENSMUST00000200116
SMART Domains Protein: ENSMUSP00000143000
Gene: ENSMUSG00000028986

DomainStartEndE-ValueType
low complexity region 7 28 N/A INTRINSIC
BTB 44 141 4.7e-31 SMART
BACK 146 248 6.3e-40 SMART
Pfam:Kelch_1 325 365 2.4e-4 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 A G 8: 77,409,538 probably benign Het
Arhgap42 A G 9: 9,008,084 I546T possibly damaging Het
Arsj A T 3: 126,439,404 probably benign Het
Ash2l A G 8: 25,818,622 V543A probably benign Het
B4galnt3 A G 6: 120,231,594 probably benign Het
Blvra T A 2: 127,082,951 V11E probably damaging Het
Calcb T C 7: 114,720,136 L51P probably damaging Het
Cd36 T A 5: 17,820,565 K52N probably benign Het
Cebpz T C 17: 78,922,553 N857S probably benign Het
Ces1b A G 8: 93,064,874 probably benign Het
Clspn T C 4: 126,576,502 probably benign Het
Cr2 A T 1: 195,166,366 L283H probably damaging Het
Ctc1 T C 11: 69,031,161 V811A possibly damaging Het
Ctsk T C 3: 95,501,419 S65P possibly damaging Het
Ddx51 A G 5: 110,653,734 N83D probably benign Het
Eci2 T C 13: 34,988,313 T146A probably benign Het
Erbin T C 13: 103,841,163 N629D possibly damaging Het
Etfbkmt A G 6: 149,144,283 E45G probably damaging Het
Fat4 A G 3: 38,991,685 N3951S probably damaging Het
Fktn T C 4: 53,744,653 V311A probably benign Het
Garem1 G T 18: 21,131,466 P534T probably damaging Het
Gm8237 A G 14: 5,864,451 I37T probably benign Het
Ikzf5 T C 7: 131,396,765 K13E probably damaging Het
Kl T A 5: 150,982,735 C523* probably null Het
Lyst T C 13: 13,681,444 V2450A probably benign Het
Map3k6 A T 4: 133,249,688 I819F probably damaging Het
Mphosph9 T C 5: 124,263,011 E891G probably damaging Het
Myo7b A G 18: 32,014,302 S63P probably damaging Het
Ndufaf7 C T 17: 78,945,010 R283C possibly damaging Het
Nepro G T 16: 44,727,099 A60S probably damaging Het
Nop56 T C 2: 130,277,525 S354P probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Olfr1253 T C 2: 89,752,828 probably null Het
Olfr600 A T 7: 103,346,849 H26Q probably benign Het
Pacsin3 T A 2: 91,261,507 probably benign Het
Parp12 C T 6: 39,114,231 D142N probably benign Het
Pcdh15 G A 10: 74,630,695 D1449N probably damaging Het
Pcsk7 C T 9: 45,909,480 T70M probably benign Het
Pld4 T C 12: 112,766,829 F280L probably benign Het
Ppm1k C A 6: 57,524,774 A135S probably damaging Het
Prkcq A T 2: 11,232,545 Y45F probably benign Het
Prom1 T A 5: 44,029,734 I385F probably damaging Het
Prss12 A G 3: 123,505,387 N603D probably benign Het
Ptbp2 G T 3: 119,720,425 T501K possibly damaging Het
Ranbp17 C A 11: 33,243,183 R957L possibly damaging Het
Rasl10a T C 11: 5,058,429 Y42H possibly damaging Het
Serpina9 G A 12: 104,008,610 Q95* probably null Het
Serpinb1b C A 13: 33,085,292 Q3K possibly damaging Het
Sgo2b T A 8: 63,926,583 M1072L probably benign Het
Slc1a5 T C 7: 16,789,820 V250A probably damaging Het
Slc30a6 T C 17: 74,423,023 S303P probably damaging Het
Tbc1d2 A T 4: 46,637,619 I209N probably benign Het
Tmc4 T A 7: 3,667,178 I484L probably benign Het
Ttll5 G A 12: 85,918,984 E36K probably damaging Het
Unc93b1 A G 19: 3,944,041 M391V probably benign Het
Xpo5 T A 17: 46,215,814 probably null Het
Other mutations in Klhl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Klhl7 APN 5 24141281 nonsense probably null
R0433:Klhl7 UTSW 5 24127702 missense probably damaging 0.98
R1301:Klhl7 UTSW 5 24159491 missense probably damaging 1.00
R1521:Klhl7 UTSW 5 24149110 splice site probably null
R2143:Klhl7 UTSW 5 24100863 missense probably benign
R2144:Klhl7 UTSW 5 24100863 missense probably benign
R2145:Klhl7 UTSW 5 24100863 missense probably benign
R3409:Klhl7 UTSW 5 24138321 missense probably damaging 0.96
R3410:Klhl7 UTSW 5 24138321 missense probably damaging 0.96
R3411:Klhl7 UTSW 5 24138321 missense probably damaging 0.96
R4927:Klhl7 UTSW 5 24141187 missense possibly damaging 0.81
R5284:Klhl7 UTSW 5 24159617 missense probably benign 0.01
R5316:Klhl7 UTSW 5 24127750 missense probably benign 0.30
R5400:Klhl7 UTSW 5 24126920 missense probably damaging 1.00
R6644:Klhl7 UTSW 5 24149246 missense probably damaging 1.00
R7122:Klhl7 UTSW 5 24138435 missense probably damaging 0.99
R7567:Klhl7 UTSW 5 24126846 missense probably benign
R7658:Klhl7 UTSW 5 24141286 missense probably benign 0.11
X0067:Klhl7 UTSW 5 24141295 critical splice donor site probably null
Posted On2016-08-02