Incidental Mutation 'R5400:Klhl7'
ID429927
Institutional Source Beutler Lab
Gene Symbol Klhl7
Ensembl Gene ENSMUSG00000028986
Gene Namekelch-like 7
Synonyms2700038B03Rik, SBBI26, D5Ertd363e, Klhl6
MMRRC Submission 042971-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.221) question?
Stock #R5400 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location24100605-24160792 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 24126920 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 73 (F73L)
Ref Sequence ENSEMBL: ENSMUSP00000030841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030841] [ENSMUST00000163409] [ENSMUST00000200116]
Predicted Effect probably damaging
Transcript: ENSMUST00000030841
AA Change: F73L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: F73L

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 damaging
Transcript: ENSMUST00000163409
AA Change: F73L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129461
Gene: ENSMUSG00000028986
AA Change: F73L

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: ENSMUST00000199530
Predicted Effect probably damaging
Transcript: ENSMUST00000200116
AA Change: F73L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143000
Gene: ENSMUSG00000028986
AA Change: F73L

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
Meta Mutation Damage Score 0.9200 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (64/65)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A T 5: 9,479,247 N1027Y probably damaging Het
Accsl T C 2: 93,859,422 D380G probably damaging Het
Afm T C 5: 90,551,398 L567P possibly damaging Het
AI481877 A G 4: 59,082,432 S399P possibly damaging Het
Anks1b A T 10: 90,512,824 I785L probably damaging Het
Arpc5l G A 2: 39,013,735 G79S probably benign Het
Arvcf G T 16: 18,399,070 R440L probably benign Het
Atm T C 9: 53,503,018 D924G probably damaging Het
Atp8b1 A T 18: 64,545,989 probably null Het
Cd19 C T 7: 126,414,452 G55D probably benign Het
Cd34 A G 1: 194,938,958 probably benign Het
Cd69 T A 6: 129,269,991 M88L probably benign Het
Ces2h A G 8: 105,018,425 E397G probably benign Het
Ddx60 T C 8: 62,010,002 F1306L possibly damaging Het
Dennd5b T C 6: 149,000,016 E1124G probably damaging Het
Dio1 A T 4: 107,306,988 M44K probably damaging Het
En1 A G 1: 120,603,595 D188G probably damaging Het
Epha10 C T 4: 124,914,121 probably benign Het
Fam120b A T 17: 15,403,126 L455F possibly damaging Het
Flt4 AC ACC 11: 49,651,034 probably null Het
Gm38394 G A 1: 133,658,141 T486I probably damaging Het
Incenp A G 19: 9,877,675 probably null Het
Kansl3 A G 1: 36,358,149 V86A possibly damaging Het
Med28 T A 5: 45,525,199 V69D probably damaging Het
Mknk1 C A 4: 115,864,552 L98M probably damaging Het
Mknk1 T A 4: 115,864,553 L98Q probably damaging Het
Myo3b T A 2: 70,105,380 C97S probably damaging Het
Neto1 A G 18: 86,395,908 H9R possibly damaging Het
Olfr1230 T C 2: 89,296,913 D119G probably damaging Het
Olfr317 T C 11: 58,732,320 T282A possibly damaging Het
Olfr354 A T 2: 36,907,821 I292F probably damaging Het
Olfr78 G A 7: 102,742,430 T191I probably benign Het
Omd A T 13: 49,592,227 E371V probably benign Het
Osbpl9 G T 4: 109,062,300 Y733* probably null Het
Pcdh12 A T 18: 38,268,898 S91R probably damaging Het
Pxk C A 14: 8,136,911 P144Q probably benign Het
Qser1 A G 2: 104,789,874 S198P probably damaging Het
Recql T G 6: 142,362,347 probably benign Het
Reln T C 5: 21,979,714 D1601G probably damaging Het
Scn10a T C 9: 119,609,034 D1922G probably damaging Het
Scn11a T A 9: 119,769,908 R1185S probably damaging Het
Sh3bp5 C A 14: 31,377,495 R265L probably benign Het
Slc13a4 A T 6: 35,301,842 C37* probably null Het
Slc22a30 G A 19: 8,344,393 Q436* probably null Het
Slc9a9 T A 9: 94,712,901 F155I probably damaging Het
Spef2 T A 15: 9,614,281 K1193M probably damaging Het
Swt1 T C 1: 151,412,834 T80A probably benign Het
Tmc1 A G 19: 20,804,602 I584T probably damaging Het
Tsc22d1 C A 14: 76,417,054 F324L probably benign Het
Usp19 T C 9: 108,500,193 V1236A probably damaging Het
Vmn2r63 T C 7: 42,928,211 N301S probably benign Het
Wrn C T 8: 33,294,917 V476I probably benign Het
Zbtb25 C A 12: 76,349,702 E249* probably null Het
Zfp54 C A 17: 21,433,700 T152K probably benign Het
Other mutations in Klhl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Klhl7 APN 5 24141281 nonsense probably null
IGL03149:Klhl7 APN 5 24159689 missense probably benign 0.02
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
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
R8312:Klhl7 UTSW 5 24134967 missense probably damaging 1.00
X0067:Klhl7 UTSW 5 24141295 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCTCTCTAAAGTGTGTGGAAAGG -3'
(R):5'- TCACTGTGTGACCGACATC -3'

Sequencing Primer
(F):5'- ACAGCATTTGGTAGGTTCCTAC -3'
(R):5'- GTGACCGACATCACAGCTG -3'
Posted On2016-09-06