Incidental Mutation 'R6998:Klhl33'
ID544368
Institutional Source Beutler Lab
Gene Symbol Klhl33
Ensembl Gene ENSMUSG00000090799
Gene Namekelch-like 33
SynonymsEG546611
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #R6998 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location50888582-50897507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 50893021 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 339 (F339I)
Ref Sequence ENSEMBL: ENSMUSP00000154785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164415] [ENSMUST00000170855] [ENSMUST00000227271]
Predicted Effect probably benign
Transcript: ENSMUST00000164415
AA Change: F79I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: F79I

DomainStartEndE-ValueType
Pfam:BTB 1 70 5.7e-6 PFAM
BACK 75 176 3.59e-21 SMART
Kelch 273 322 5.26e-3 SMART
Kelch 323 369 7.83e-11 SMART
Kelch 370 418 1.46e-1 SMART
Kelch 419 465 2.84e-8 SMART
Kelch 466 514 6.08e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170855
SMART Domains Protein: ENSMUSP00000131456
Gene: ENSMUSG00000090799

DomainStartEndE-ValueType
SCOP:d1buoa_ 83 129 2e-3 SMART
Blast:BTB 109 170 2e-18 BLAST
SCOP:d1jkjb2 142 198 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227271
AA Change: F339I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,162,710 R620G probably benign Het
Adcy1 A C 11: 7,079,026 N259H probably damaging Het
Ahctf1 G A 1: 179,770,915 R2* probably null Het
Akr1c21 A G 13: 4,583,851 I306M probably benign Het
Alg9 T A 9: 50,789,621 S230R possibly damaging Het
Armt1 T A 10: 4,453,937 C341S probably benign Het
Aspg T A 12: 112,112,194 L29M probably damaging Het
Aspm C T 1: 139,469,472 T934I probably damaging Het
C1rl T C 6: 124,508,902 S411P probably damaging Het
Card14 A G 11: 119,322,899 E224G probably damaging Het
Ccdc88c T C 12: 100,916,852 H1587R probably damaging Het
Ccp110 A G 7: 118,732,897 T963A possibly damaging Het
Cdk11b G A 4: 155,648,343 W546* probably null Het
Cyp8b1 T C 9: 121,915,993 N91S probably benign Het
Dab2 G T 15: 6,424,649 M213I possibly damaging Het
Decr1 A G 4: 15,930,960 V124A probably damaging Het
Fbxl13 T A 5: 21,543,689 I411F probably damaging Het
Fbxl13 T C 5: 21,620,613 I164V probably null Het
Fndc7 G A 3: 108,876,648 A215V probably benign Het
Garem2 T C 5: 30,114,170 M210T possibly damaging Het
Gpatch2l G A 12: 86,244,184 R47H probably damaging Het
Ighv1-52 C A 12: 115,145,492 A115S probably benign Het
Igkv6-13 A G 6: 70,457,589 S91P probably damaging Het
Ints8 T A 4: 11,204,537 E973V possibly damaging Het
Itga3 T C 11: 95,051,462 K972R probably benign Het
Krt79 T C 15: 101,937,872 M214V probably benign Het
Lgsn A T 1: 31,204,193 H452L probably benign Het
Limd2 C T 11: 106,158,690 G124D probably benign Het
Luzp1 T C 4: 136,543,444 S993P probably damaging Het
Maml2 C T 9: 13,621,185 probably benign Het
Mbtd1 A T 11: 93,924,612 H342L probably damaging Het
Mfhas1 C A 8: 35,591,356 P995Q probably damaging Het
Muc5ac T C 7: 141,818,714 F3399S possibly damaging Het
Napb T C 2: 148,700,425 Y205C probably damaging Het
Odf2 G T 2: 29,912,617 A298S probably benign Het
Olfr1082 A T 2: 86,594,144 M228K probably damaging Het
Olfr1193 A T 2: 88,678,508 I218F probably benign Het
Olfr740 A T 14: 50,453,433 Y127F probably benign Het
Pcsk5 T C 19: 17,473,112 D1124G probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 probably benign Het
Pik3c2b T G 1: 133,102,372 I1457S probably benign Het
Pole2 T C 12: 69,213,906 T167A possibly damaging Het
Rfx7 T A 9: 72,618,505 S992R probably damaging Het
Ryr2 G T 13: 11,712,166 S2436R probably damaging Het
Sgo2a A G 1: 58,016,640 D661G probably damaging Het
Sh3glb2 T A 2: 30,355,321 T49S probably damaging Het
Slc16a10 T C 10: 40,056,503 K354R possibly damaging Het
Slc6a6 C A 6: 91,752,438 T568K probably benign Het
Sptbn1 T C 11: 30,100,633 T2319A probably damaging Het
Tbl1xr1 T A 3: 22,179,290 Y15N probably damaging Het
Thyn1 T C 9: 27,006,442 S160P probably damaging Het
Tshz1 A T 18: 84,015,841 D147E probably benign Het
Vmn2r50 T G 7: 10,037,757 R672S probably benign Het
Zfp663 A T 2: 165,354,002 I99N possibly damaging Het
Other mutations in Klhl33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Klhl33 APN 14 50891431 missense probably benign 0.03
IGL01965:Klhl33 APN 14 50891730 missense probably damaging 1.00
IGL02804:Klhl33 APN 14 50892954 missense probably damaging 1.00
IGL02830:Klhl33 APN 14 50891757 missense probably damaging 1.00
R0309:Klhl33 UTSW 14 50891411 missense probably damaging 0.97
R0520:Klhl33 UTSW 14 50891683 missense probably damaging 1.00
R0671:Klhl33 UTSW 14 50892394 missense probably damaging 0.99
R0894:Klhl33 UTSW 14 50892126 missense probably damaging 0.99
R0989:Klhl33 UTSW 14 50891822 missense probably damaging 1.00
R1681:Klhl33 UTSW 14 50893077 missense probably benign 0.28
R1795:Klhl33 UTSW 14 50892126 missense probably damaging 0.99
R2088:Klhl33 UTSW 14 50892773 nonsense probably null
R3114:Klhl33 UTSW 14 50891515 missense possibly damaging 0.61
R5650:Klhl33 UTSW 14 50891828 missense probably benign 0.08
R5851:Klhl33 UTSW 14 50892878 missense probably damaging 1.00
R5995:Klhl33 UTSW 14 50892651 missense possibly damaging 0.83
R6365:Klhl33 UTSW 14 50891837 missense probably benign
R6434:Klhl33 UTSW 14 50893107 missense probably damaging 1.00
R6803:Klhl33 UTSW 14 50896735 missense probably damaging 0.99
R6881:Klhl33 UTSW 14 50891472 missense probably benign 0.12
R6932:Klhl33 UTSW 14 50891916 missense probably benign 0.03
R6953:Klhl33 UTSW 14 50891516 missense possibly damaging 0.79
R7545:Klhl33 UTSW 14 50893174 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTAGACATGCGGCCAAAG -3'
(R):5'- AAGACCTGAGACTCCTCGTTTC -3'

Sequencing Primer
(F):5'- AACAGTGCCTTGGCCTCTGAC -3'
(R):5'- CTTTTGCCTACACTGGAGTTG -3'
Posted On2019-05-13