Incidental Mutation 'IGL02884:Kcnu1'
ID 362907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnu1
Ensembl Gene ENSMUSG00000031576
Gene Name potassium channel, subfamily U, member 1
Synonyms Slo3, Kcnma3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02884
Quality Score
Status
Chromosome 8
Chromosomal Location 26339651-26427967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26411556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 167 (S167L)
Ref Sequence ENSEMBL: ENSMUSP00000113442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098858] [ENSMUST00000120653] [ENSMUST00000126226]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098858
AA Change: S907L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: S907L

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
Pfam:Ion_trans 101 323 6.9e-21 PFAM
Pfam:Ion_trans_2 229 317 4.7e-12 PFAM
low complexity region 367 380 N/A INTRINSIC
Pfam:BK_channel_a 462 557 1.2e-28 PFAM
low complexity region 670 689 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120653
AA Change: S167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576
AA Change: S167L

DomainStartEndE-ValueType
PDB:4HPF|B 1 332 1e-144 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000126226
SMART Domains Protein: ENSMUSP00000123273
Gene: ENSMUSG00000031576

DomainStartEndE-ValueType
PDB:4HPF|B 1 160 5e-61 PDB
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 member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous male mutants are infertile with impaired sperm capacitation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Bcl9 G A 3: 97,117,368 (GRCm39) P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Cep104 T C 4: 154,074,319 (GRCm39) C524R probably damaging Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Crot C T 5: 9,028,197 (GRCm39) probably null Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fbf1 C T 11: 116,037,339 (GRCm39) E940K probably damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Haghl A T 17: 26,002,072 (GRCm39) F207Y possibly damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Ncaph2 T C 15: 89,248,447 (GRCm39) probably null Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A T 17: 42,813,340 (GRCm39) T414S possibly damaging Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Soat1 A T 1: 156,268,926 (GRCm39) I208N possibly damaging Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R probably damaging Het
Other mutations in Kcnu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Kcnu1 APN 8 26,387,884 (GRCm39) missense probably benign 0.00
IGL00580:Kcnu1 APN 8 26,355,691 (GRCm39) missense probably benign 0.04
IGL00675:Kcnu1 APN 8 26,341,877 (GRCm39) missense probably benign
IGL00928:Kcnu1 APN 8 26,339,763 (GRCm39) missense probably damaging 1.00
IGL01324:Kcnu1 APN 8 26,339,735 (GRCm39) missense probably benign 0.22
IGL01346:Kcnu1 APN 8 26,424,551 (GRCm39) splice site probably benign
IGL01361:Kcnu1 APN 8 26,376,796 (GRCm39) missense possibly damaging 0.78
IGL01651:Kcnu1 APN 8 26,351,123 (GRCm39) missense probably damaging 1.00
IGL01795:Kcnu1 APN 8 26,403,733 (GRCm39) missense probably damaging 1.00
IGL01800:Kcnu1 APN 8 26,427,528 (GRCm39) missense probably damaging 1.00
IGL01975:Kcnu1 APN 8 26,424,525 (GRCm39) missense probably benign 0.29
IGL02103:Kcnu1 APN 8 26,395,976 (GRCm39) missense possibly damaging 0.83
IGL02109:Kcnu1 APN 8 26,427,727 (GRCm39) missense possibly damaging 0.66
IGL02127:Kcnu1 APN 8 26,382,090 (GRCm39) missense probably damaging 1.00
IGL02170:Kcnu1 APN 8 26,427,588 (GRCm39) missense probably damaging 1.00
IGL02217:Kcnu1 APN 8 26,348,212 (GRCm39) missense probably damaging 1.00
IGL02385:Kcnu1 APN 8 26,422,298 (GRCm39) missense probably damaging 1.00
IGL02493:Kcnu1 APN 8 26,427,548 (GRCm39) missense possibly damaging 0.68
IGL02883:Kcnu1 APN 8 26,339,855 (GRCm39) missense probably benign
IGL03022:Kcnu1 APN 8 26,427,614 (GRCm39) missense probably damaging 0.98
IGL03281:Kcnu1 APN 8 26,382,105 (GRCm39) missense probably null 1.00
IGL03345:Kcnu1 APN 8 26,371,321 (GRCm39) splice site probably benign
P0026:Kcnu1 UTSW 8 26,382,150 (GRCm39) missense probably damaging 1.00
PIT4677001:Kcnu1 UTSW 8 26,396,021 (GRCm39) missense probably benign
R0001:Kcnu1 UTSW 8 26,349,298 (GRCm39) missense probably damaging 1.00
R0419:Kcnu1 UTSW 8 26,427,646 (GRCm39) missense probably benign 0.13
R0518:Kcnu1 UTSW 8 26,400,916 (GRCm39) missense probably damaging 1.00
R0521:Kcnu1 UTSW 8 26,400,916 (GRCm39) missense probably damaging 1.00
R0581:Kcnu1 UTSW 8 26,427,529 (GRCm39) missense probably damaging 1.00
R0840:Kcnu1 UTSW 8 26,403,712 (GRCm39) start codon destroyed probably null 1.00
R1282:Kcnu1 UTSW 8 26,395,985 (GRCm39) missense probably benign 0.02
R1556:Kcnu1 UTSW 8 26,351,219 (GRCm39) critical splice donor site probably null
R1600:Kcnu1 UTSW 8 26,339,821 (GRCm39) missense probably damaging 1.00
R2011:Kcnu1 UTSW 8 26,408,470 (GRCm39) missense probably benign 0.03
R2035:Kcnu1 UTSW 8 26,386,721 (GRCm39) missense probably benign 0.35
R2082:Kcnu1 UTSW 8 26,411,577 (GRCm39) missense probably damaging 1.00
R2132:Kcnu1 UTSW 8 26,341,928 (GRCm39) missense probably damaging 0.99
R2415:Kcnu1 UTSW 8 26,400,906 (GRCm39) missense probably benign
R2513:Kcnu1 UTSW 8 26,395,994 (GRCm39) missense probably benign 0.00
R3712:Kcnu1 UTSW 8 26,371,448 (GRCm39) missense probably damaging 1.00
R3749:Kcnu1 UTSW 8 26,376,798 (GRCm39) missense probably null 0.01
R3840:Kcnu1 UTSW 8 26,375,380 (GRCm39) missense possibly damaging 0.95
R3874:Kcnu1 UTSW 8 26,375,345 (GRCm39) missense probably damaging 1.00
R4184:Kcnu1 UTSW 8 26,352,445 (GRCm39) missense probably damaging 1.00
R4576:Kcnu1 UTSW 8 26,380,048 (GRCm39) missense probably benign 0.06
R4658:Kcnu1 UTSW 8 26,427,583 (GRCm39) missense probably damaging 1.00
R4667:Kcnu1 UTSW 8 26,400,949 (GRCm39) missense possibly damaging 0.69
R4791:Kcnu1 UTSW 8 26,403,780 (GRCm39) missense probably damaging 1.00
R4940:Kcnu1 UTSW 8 26,387,890 (GRCm39) splice site probably null
R5120:Kcnu1 UTSW 8 26,424,516 (GRCm39) missense possibly damaging 0.79
R5314:Kcnu1 UTSW 8 26,352,486 (GRCm39) missense probably damaging 0.97
R5712:Kcnu1 UTSW 8 26,409,678 (GRCm39) missense probably damaging 1.00
R5807:Kcnu1 UTSW 8 26,339,742 (GRCm39) missense possibly damaging 0.78
R6237:Kcnu1 UTSW 8 26,422,362 (GRCm39) missense probably benign
R6260:Kcnu1 UTSW 8 26,341,919 (GRCm39) missense probably damaging 1.00
R6360:Kcnu1 UTSW 8 26,351,208 (GRCm39) missense possibly damaging 0.73
R6612:Kcnu1 UTSW 8 26,408,344 (GRCm39) missense probably benign 0.10
R6708:Kcnu1 UTSW 8 26,427,739 (GRCm39) missense probably benign
R6765:Kcnu1 UTSW 8 26,403,673 (GRCm39) missense probably damaging 1.00
R6816:Kcnu1 UTSW 8 26,427,762 (GRCm39) nonsense probably null
R7030:Kcnu1 UTSW 8 26,408,491 (GRCm39) missense probably benign 0.00
R7202:Kcnu1 UTSW 8 26,409,609 (GRCm39) splice site probably null
R7208:Kcnu1 UTSW 8 26,409,665 (GRCm39) nonsense probably null
R7411:Kcnu1 UTSW 8 26,382,116 (GRCm39) missense probably damaging 1.00
R7520:Kcnu1 UTSW 8 26,375,368 (GRCm39) missense probably damaging 1.00
R7579:Kcnu1 UTSW 8 26,386,686 (GRCm39) missense probably damaging 1.00
R7968:Kcnu1 UTSW 8 26,400,898 (GRCm39) missense probably benign
R8305:Kcnu1 UTSW 8 26,382,018 (GRCm39) missense probably benign 0.21
R8443:Kcnu1 UTSW 8 26,382,092 (GRCm39) missense probably damaging 1.00
R8694:Kcnu1 UTSW 8 26,342,101 (GRCm39) unclassified probably benign
R8730:Kcnu1 UTSW 8 26,403,708 (GRCm39) missense probably damaging 1.00
R9173:Kcnu1 UTSW 8 26,390,074 (GRCm39) critical splice donor site probably null
R9285:Kcnu1 UTSW 8 26,381,611 (GRCm39) missense probably damaging 0.99
R9291:Kcnu1 UTSW 8 26,390,041 (GRCm39) missense probably benign
R9340:Kcnu1 UTSW 8 26,376,786 (GRCm39) missense possibly damaging 0.93
R9470:Kcnu1 UTSW 8 26,409,660 (GRCm39) missense probably benign 0.13
R9556:Kcnu1 UTSW 8 26,348,154 (GRCm39) missense probably damaging 1.00
R9616:Kcnu1 UTSW 8 26,403,675 (GRCm39) frame shift probably null
Z1177:Kcnu1 UTSW 8 26,339,792 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18