Incidental Mutation 'R4184:Kcnu1'
ID 319870
Institutional Source Beutler Lab
Gene Symbol Kcnu1
Ensembl Gene ENSMUSG00000031576
Gene Name potassium channel, subfamily U, member 1
Synonyms Slo3, Kcnma3
MMRRC Submission 041020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4184 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 26339651-26427967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26352445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 204 (L204P)
Ref Sequence ENSEMBL: ENSMUSP00000096457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098858]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098858
AA Change: L204P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: L204P

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 noncoding transcript
Transcript: ENSMUST00000210273
Meta Mutation Damage Score 0.6378 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 95% (55/58)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A T 7: 143,447,858 (GRCm39) K234* probably null Het
Ccdc178 A G 18: 22,157,841 (GRCm39) L539P probably damaging Het
Cd5 T A 19: 10,698,638 (GRCm39) N423I probably damaging Het
Ceacam20 C T 7: 19,710,041 (GRCm39) T355I probably damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cln8 T C 8: 14,945,030 (GRCm39) F115L probably benign Het
Cpne9 T A 6: 113,259,418 (GRCm39) probably benign Het
Cyp4a32 C T 4: 115,478,720 (GRCm39) T484I possibly damaging Het
Des C G 1: 75,339,228 (GRCm39) A251G probably benign Het
Dnah3 T C 7: 119,682,516 (GRCm39) D270G probably damaging Het
Epc1 T C 18: 6,453,578 (GRCm39) E249G possibly damaging Het
Fsbp T A 4: 11,584,058 (GRCm39) N252K probably benign Het
Gramd1a C A 7: 30,831,940 (GRCm39) probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Igsf10 C T 3: 59,227,152 (GRCm39) V2174M probably damaging Het
Kdm7a T C 6: 39,125,911 (GRCm39) E628G probably benign Het
Klhl36 T C 8: 120,601,124 (GRCm39) M381T probably damaging Het
Kpna3 A T 14: 61,605,624 (GRCm39) Y474N probably damaging Het
Lsm8 G T 6: 18,849,604 (GRCm39) probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mbd2 T A 18: 70,751,050 (GRCm39) C362S probably damaging Het
Mex3b A G 7: 82,519,238 (GRCm39) R518G probably benign Het
Mical1 T C 10: 41,357,866 (GRCm39) probably benign Het
Myo18a T C 11: 77,748,613 (GRCm39) S1996P probably damaging Het
Or11g7 A G 14: 50,690,827 (GRCm39) Y106C probably damaging Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Otop2 T A 11: 115,220,671 (GRCm39) C504S probably benign Het
Pkhd1 T A 1: 20,279,501 (GRCm39) H2939L probably benign Het
Pkhd1 C T 1: 20,633,910 (GRCm39) V542M probably benign Het
Pkhd1l1 C T 15: 44,455,302 (GRCm39) T4021I probably benign Het
Prr36 T C 8: 4,263,409 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,813,650 (GRCm39) Y517F probably damaging Het
Pth1r A G 9: 110,571,300 (GRCm39) M1T probably null Het
Rdx C A 9: 51,978,680 (GRCm39) L163M probably damaging Het
Reep6 A G 10: 80,169,648 (GRCm39) Y112C probably damaging Het
Rpp21 A G 17: 36,568,611 (GRCm39) probably benign Het
Sacs T A 14: 61,451,393 (GRCm39) C4480S probably damaging Het
Slc15a1 G A 14: 121,703,574 (GRCm39) T512I probably benign Het
Slc22a22 A T 15: 57,119,962 (GRCm39) C170* probably null Het
Slc26a2 C T 18: 61,331,904 (GRCm39) R509K probably benign Het
Slc4a10 A G 2: 62,147,786 (GRCm39) probably benign Het
Stc1 A T 14: 69,266,834 (GRCm39) probably benign Het
Tbc1d32 T A 10: 56,100,676 (GRCm39) T101S probably benign Het
Tsc2 T C 17: 24,850,990 (GRCm39) T23A probably benign Het
Vmn1r52 T G 6: 90,156,219 (GRCm39) F174L probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Zfpl1 A G 19: 6,131,170 (GRCm39) L274P 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGCTCCCACACGTTTAAGATTG -3'
(R):5'- ACGGATGCTGATGGAGTTC -3'

Sequencing Primer
(F):5'- AACTATGGAAGTGTGTGCCC -3'
(R):5'- CTGATGGAGTTCCTGATTTTCAC -3'
Posted On 2015-06-10