Incidental Mutation 'R0220:Klhl41'
ID 33764
Institutional Source Beutler Lab
Gene Symbol Klhl41
Ensembl Gene ENSMUSG00000075307
Gene Name kelch-like 41
Synonyms Kbtbd10, LOC228003
MMRRC Submission 038469-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0220 (G1)
Quality Score 191
Status Not validated
Chromosome 2
Chromosomal Location 69500464-69514574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69500829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 97 (D97N)
Ref Sequence ENSEMBL: ENSMUSP00000097627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074963] [ENSMUST00000100050] [ENSMUST00000112286] [ENSMUST00000134659]
AlphaFold A2AUC9
Predicted Effect probably benign
Transcript: ENSMUST00000074963
SMART Domains Protein: ENSMUSP00000074494
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 7 339 6.2e-161 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100050
AA Change: D97N

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: D97N

DomainStartEndE-ValueType
BTB 33 130 8.34e-27 SMART
BACK 135 237 9.67e-36 SMART
Kelch 346 398 6.71e-1 SMART
Kelch 399 447 1.56e-5 SMART
Kelch 448 495 2.43e-7 SMART
Kelch 496 542 5.81e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112286
SMART Domains Protein: ENSMUSP00000107905
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 6 208 1.6e-100 PFAM
Pfam:DUF1448 206 319 9.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127806
SMART Domains Protein: ENSMUSP00000121691
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 22 90 9.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134659
SMART Domains Protein: ENSMUSP00000119377
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 6 88 3.1e-36 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
PHENOTYPE: The gene product is involved in stabilizing proteins involved in muscle function. Homozygous knockout affects the structure of muscle fibers and their sarcomeres, resulting in neonatal death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,195,194 (GRCm39) probably null Het
Abcc5 A G 16: 20,187,852 (GRCm39) V863A probably benign Het
Anxa6 A C 11: 54,872,588 (GRCm39) probably null Het
Armc10 A G 5: 21,866,582 (GRCm39) K296R probably benign Het
Arpc2 T A 1: 74,287,293 (GRCm39) F38I probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bcl6 T A 16: 23,784,969 (GRCm39) H677L possibly damaging Het
Bcl7a G A 5: 123,489,982 (GRCm39) V49I probably damaging Het
Ccnj T C 19: 40,833,254 (GRCm39) L144P probably damaging Het
Cdh8 G T 8: 99,838,311 (GRCm39) P510T probably benign Het
Cgnl1 C A 9: 71,632,225 (GRCm39) K375N possibly damaging Het
Cubn C A 2: 13,361,520 (GRCm39) R1695L probably damaging Het
Cyp3a59 G A 5: 146,035,080 (GRCm39) V253I probably benign Het
Cyp4f13 A G 17: 33,148,476 (GRCm39) I208T probably damaging Het
Dennd4a A C 9: 64,759,727 (GRCm39) E277D probably damaging Het
Depdc1a G A 3: 159,229,542 (GRCm39) V625I probably benign Het
Dot1l A T 10: 80,621,692 (GRCm39) D448V probably damaging Het
Efhc1 A G 1: 21,037,582 (GRCm39) D253G probably damaging Het
Eme1 T A 11: 94,541,084 (GRCm39) E246V probably null Het
Foxred1 A G 9: 35,120,749 (GRCm39) L128P probably damaging Het
Gm4787 G T 12: 81,425,422 (GRCm39) S245R probably damaging Het
Gm5141 T A 13: 62,922,271 (GRCm39) K299N probably damaging Het
Greb1 C A 12: 16,732,287 (GRCm39) R1558L probably damaging Het
Ip6k3 A T 17: 27,364,203 (GRCm39) F282I probably damaging Het
Kdm2a T C 19: 4,374,947 (GRCm39) D288G possibly damaging Het
Kdm4d A T 9: 14,374,418 (GRCm39) V480E probably benign Het
Kif26a A T 12: 112,123,824 (GRCm39) Q143L probably damaging Het
Krt34 C T 11: 99,929,519 (GRCm39) probably benign Het
Lcn11 A T 2: 25,667,843 (GRCm39) H77L probably benign Het
Megf6 G A 4: 154,342,672 (GRCm39) R529H probably damaging Het
Mipol1 A G 12: 57,503,936 (GRCm39) E368G probably damaging Het
Mtus1 A T 8: 41,447,609 (GRCm39) M442K probably damaging Het
Naca T C 10: 127,879,255 (GRCm39) probably benign Het
Nbea G A 3: 55,912,724 (GRCm39) T1021I probably benign Het
Nfib A T 4: 82,215,013 (GRCm39) V530E probably damaging Het
Nptx1 A G 11: 119,435,467 (GRCm39) V283A probably damaging Het
Opn5 A G 17: 42,907,495 (GRCm39) V127A probably benign Het
Or4c126 G T 2: 89,824,206 (GRCm39) L156F probably benign Het
Or5h22 A T 16: 58,895,095 (GRCm39) M116K probably damaging Het
Pcgf6 A G 19: 47,028,529 (GRCm39) V291A probably benign Het
Pilrb2 C A 5: 137,869,459 (GRCm39) R47L probably benign Het
Prom2 A C 2: 127,383,027 (GRCm39) S72A probably benign Het
Sema3e T C 5: 14,214,167 (GRCm39) F144S possibly damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smarcc2 A T 10: 128,319,505 (GRCm39) D798V probably benign Het
Taf5 T C 19: 47,068,999 (GRCm39) S563P probably damaging Het
Topaz1 A G 9: 122,578,368 (GRCm39) H426R possibly damaging Het
Tpgs1 T A 10: 79,511,271 (GRCm39) C138S possibly damaging Het
Traf1 A T 2: 34,839,115 (GRCm39) V70D probably benign Het
Ttn T C 2: 76,641,737 (GRCm39) Y13453C probably damaging Het
Ubxn4 T A 1: 128,183,931 (GRCm39) V97D possibly damaging Het
Ugt1a8 A T 1: 88,016,057 (GRCm39) I157L probably benign Het
Vmn2r13 A T 5: 109,304,332 (GRCm39) C700S probably damaging Het
Wee1 A T 7: 109,723,733 (GRCm39) D216V probably benign Het
Zc3h4 T C 7: 16,163,198 (GRCm39) Y533H unknown Het
Zfp1005 A T 2: 150,110,595 (GRCm39) Q428H unknown Het
Zfp81 A G 17: 33,555,698 (GRCm39) I43T possibly damaging Het
Zfp963 A T 8: 70,196,145 (GRCm39) Y103N probably benign Het
Zfp963 A T 8: 70,196,143 (GRCm39) Y103* probably null Het
Zzef1 G T 11: 72,756,792 (GRCm39) D1126Y probably damaging Het
Other mutations in Klhl41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Klhl41 APN 2 69,505,068 (GRCm39) missense probably benign 0.00
IGL01622:Klhl41 APN 2 69,508,582 (GRCm39) missense probably benign 0.05
IGL01623:Klhl41 APN 2 69,508,582 (GRCm39) missense probably benign 0.05
IGL03237:Klhl41 APN 2 69,500,902 (GRCm39) missense possibly damaging 0.94
R0277:Klhl41 UTSW 2 69,501,640 (GRCm39) missense probably damaging 1.00
R0456:Klhl41 UTSW 2 69,500,893 (GRCm39) missense probably damaging 0.99
R0485:Klhl41 UTSW 2 69,501,600 (GRCm39) missense probably damaging 0.97
R0536:Klhl41 UTSW 2 69,500,554 (GRCm39) missense probably benign 0.04
R0537:Klhl41 UTSW 2 69,500,554 (GRCm39) missense probably benign 0.04
R0552:Klhl41 UTSW 2 69,500,554 (GRCm39) missense probably benign 0.04
R0553:Klhl41 UTSW 2 69,500,554 (GRCm39) missense probably benign 0.04
R0834:Klhl41 UTSW 2 69,508,491 (GRCm39) missense possibly damaging 0.76
R0879:Klhl41 UTSW 2 69,513,827 (GRCm39) unclassified probably benign
R1531:Klhl41 UTSW 2 69,501,084 (GRCm39) missense probably benign 0.03
R1678:Klhl41 UTSW 2 69,501,283 (GRCm39) missense probably benign 0.01
R1792:Klhl41 UTSW 2 69,501,146 (GRCm39) missense probably benign 0.01
R1900:Klhl41 UTSW 2 69,504,963 (GRCm39) splice site probably benign
R2012:Klhl41 UTSW 2 69,513,840 (GRCm39) missense possibly damaging 0.61
R4041:Klhl41 UTSW 2 69,501,054 (GRCm39) missense probably benign 0.00
R5223:Klhl41 UTSW 2 69,510,171 (GRCm39) nonsense probably null
R5500:Klhl41 UTSW 2 69,513,873 (GRCm39) missense probably damaging 1.00
R5643:Klhl41 UTSW 2 69,500,815 (GRCm39) missense probably damaging 1.00
R5644:Klhl41 UTSW 2 69,500,815 (GRCm39) missense probably damaging 1.00
R5656:Klhl41 UTSW 2 69,513,876 (GRCm39) missense possibly damaging 0.89
R6264:Klhl41 UTSW 2 69,510,176 (GRCm39) critical splice donor site probably null
R6678:Klhl41 UTSW 2 69,501,188 (GRCm39) missense probably benign 0.04
R6731:Klhl41 UTSW 2 69,505,044 (GRCm39) missense probably damaging 1.00
R7586:Klhl41 UTSW 2 69,505,068 (GRCm39) missense probably benign 0.33
R7664:Klhl41 UTSW 2 69,501,061 (GRCm39) missense probably damaging 1.00
R8158:Klhl41 UTSW 2 69,501,505 (GRCm39) missense probably damaging 1.00
R8341:Klhl41 UTSW 2 69,500,868 (GRCm39) missense probably benign 0.07
X0021:Klhl41 UTSW 2 69,510,050 (GRCm39) missense probably damaging 1.00
Z1088:Klhl41 UTSW 2 69,505,074 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- GGAACTCCGGCTTTACCAATCCAC -3'
(R):5'- GTCGAGAAGCAGCCCCAATCTTAG -3'

Sequencing Primer
(F):5'- CCCTTCTTCAGGATGGTCTAAAAG -3'
(R):5'- GTAAGACACACAGACGGTGA -3'
Posted On 2013-05-09