Incidental Mutation 'R6644:Klhl7'
ID525993
Institutional Source Beutler Lab
Gene Symbol Klhl7
Ensembl Gene ENSMUSG00000028986
Gene Namekelch-like 7
Synonyms2700038B03Rik, SBBI26, D5Ertd363e, Klhl6
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.275) question?
Stock #R6644 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location24100605-24160792 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24149246 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 353 (D353G)
Ref Sequence ENSEMBL: ENSMUSP00000143000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030841] [ENSMUST00000163409] [ENSMUST00000200116]
Predicted Effect probably damaging
Transcript: ENSMUST00000030841
AA Change: D353G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: D353G

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: D353G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129461
Gene: ENSMUSG00000028986
AA Change: D353G

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 damaging
Transcript: ENSMUST00000200116
AA Change: D353G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143000
Gene: ENSMUSG00000028986
AA Change: D353G

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 0.7889 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik T G 4: 107,894,922 I130S probably damaging Het
Abca7 C T 10: 80,008,764 P1461L probably damaging Het
Abhd14a T C 9: 106,444,273 Y10C probably damaging Het
Adcy2 C T 13: 68,668,552 V772M possibly damaging Het
Apob A G 12: 8,009,077 M2487V probably damaging Het
B4galnt1 T C 10: 127,171,793 probably null Het
Cabp7 C T 11: 4,740,396 V76I probably benign Het
Cbr3 A G 16: 93,690,511 Y194C probably damaging Het
Cdk18 G A 1: 132,122,069 Q58* probably null Het
Cryba4 T C 5: 112,246,762 D167G probably damaging Het
Dner T C 1: 84,395,707 N588S probably damaging Het
Dnm1l T C 16: 16,329,873 I343V probably benign Het
Fam168b C A 1: 34,836,741 G21V probably damaging Het
Fam71d T A 12: 78,715,286 D241E probably damaging Het
Fbxw17 G A 13: 50,423,219 R49Q probably damaging Het
Gm10332 T A 14: 54,820,159 F59I probably damaging Het
Gm6803 A G 12: 88,018,690 F28L probably benign Het
Gm8765 A G 13: 50,702,035 T570A possibly damaging Het
Gnai3 A G 3: 108,123,536 probably null Het
Helz T A 11: 107,632,261 M75K possibly damaging Het
Hnrnph3 C T 10: 63,018,893 probably benign Het
Ifi211 C T 1: 173,905,552 C181Y probably benign Het
Immp1l A G 2: 105,937,045 K83R probably damaging Het
Itga6 G A 2: 71,841,124 G740R probably damaging Het
Klhl1 T C 14: 96,517,918 T134A probably benign Het
Map3k1 A G 13: 111,752,449 S1325P probably benign Het
Map3k4 A G 17: 12,232,410 probably null Het
Meioc G A 11: 102,668,460 probably null Het
Mfap5 T C 6: 122,520,596 F26L probably damaging Het
Myo5a A G 9: 75,146,967 T386A probably damaging Het
Npc1l1 A T 11: 6,214,013 L1266Q probably damaging Het
Npc1l1 G T 11: 6,214,014 L1266M probably damaging Het
Olfr1221 A G 2: 89,111,981 M177T probably benign Het
Olfr612 C A 7: 103,539,058 V59F possibly damaging Het
Pbld1 T A 10: 63,075,063 S233T probably damaging Het
Phf12 A G 11: 78,026,092 *789W probably null Het
Sf3b2 A T 19: 5,279,964 probably null Het
Slc23a3 A G 1: 75,128,547 I459T probably damaging Het
Sptbn2 C G 19: 4,749,012 R2037G probably benign Het
Stard9 A C 2: 120,695,772 M837L probably benign Het
Stx5a A T 19: 8,755,248 probably benign Het
Tmc7 A G 7: 118,538,162 V719A probably benign Het
Trank1 T A 9: 111,364,834 I642K possibly damaging Het
Trim34a T C 7: 104,261,037 Y349H probably damaging Het
Uba7 A G 9: 107,981,472 Y834C possibly damaging Het
Ube2d1 A G 10: 71,256,700 S105P possibly damaging Het
Vps13a A G 19: 16,744,919 V343A possibly damaging Het
Zbtb37 G A 1: 161,032,073 Q221* probably null Het
Zfp119b T C 17: 55,939,148 N346S probably benign Het
Zfp708 G T 13: 67,070,721 T358K possibly damaging 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
R5400:Klhl7 UTSW 5 24126920 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
Predicted Primers PCR Primer
(F):5'- AGTTTAAACTGGGTAGTAGATGTGC -3'
(R):5'- CAGACGTACACCTAAATTACTGAAG -3'

Sequencing Primer
(F):5'- TGTGCAGTCTAGGAAACAAAAATCC -3'
(R):5'- CACCTAAATTACTGAAGTATTGGGAC -3'
Posted On2018-06-22