Incidental Mutation 'IGL01346:Kcnu1'
ID 75070
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 # IGL01346
Quality Score
Status
Chromosome 8
Chromosomal Location 26339651-26427967 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 26424551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098858] [ENSMUST00000120653]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098858
SMART Domains Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576

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 benign
Transcript: ENSMUST00000120653
SMART Domains Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576

DomainStartEndE-ValueType
PDB:4HPF|B 1 332 1e-144 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null 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
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
IGL02884:Kcnu1 APN 8 26,411,556 (GRCm39) missense probably damaging 1.00
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 2013-10-07