Incidental Mutation 'R7202:Kcnu1'
ID 574640
Institutional Source Beutler Lab
Gene Symbol Kcnu1
Ensembl Gene ENSMUSG00000031576
Gene Name potassium channel, subfamily U, member 1
Synonyms Slo3, Kcnma3
MMRRC Submission 045280-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7202 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 26339651-26427967 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 26409609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098858] [ENSMUST00000120653] [ENSMUST00000126226]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
Transcript: ENSMUST00000120653
SMART Domains Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576

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

DomainStartEndE-ValueType
PDB:4HPF|B 1 160 5e-61 PDB
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,917,236 (GRCm39) I1467T probably damaging Het
Abtb3 A G 10: 85,223,629 (GRCm39) E146G unknown Het
Adgrf3 T A 5: 30,409,378 (GRCm39) K38* probably null Het
Ahdc1 T A 4: 132,789,198 (GRCm39) C146* probably null Het
Ahnak A T 19: 8,995,163 (GRCm39) K5482N probably damaging Het
Arhgap23 C T 11: 97,342,819 (GRCm39) A367V possibly damaging Het
Arvcf T C 16: 18,223,948 (GRCm39) S960P probably damaging Het
Asb14 C A 14: 26,622,394 (GRCm39) P74Q probably benign Het
Atad5 T C 11: 79,980,601 (GRCm39) V2A probably damaging Het
Baz2a A G 10: 127,954,428 (GRCm39) I691M possibly damaging Het
Brca2 A G 5: 150,455,819 (GRCm39) T187A probably benign Het
Calr4 T A 4: 109,101,254 (GRCm39) N152K possibly damaging Het
Ccnb2 C T 9: 70,318,128 (GRCm39) A215T probably damaging Het
Cdh16 C T 8: 105,340,780 (GRCm39) D140N unknown Het
Ces1g T C 8: 94,029,595 (GRCm39) T546A probably benign Het
Cfap74 G T 4: 155,510,654 (GRCm39) probably null Het
Cfap91 T C 16: 38,155,959 (GRCm39) Y88C probably benign Het
Col5a1 G T 2: 27,842,390 (GRCm39) D422Y unknown Het
Cyp2c66 A T 19: 39,130,348 (GRCm39) Y61F probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah6 A G 6: 73,158,688 (GRCm39) probably null Het
Dop1a T G 9: 86,386,220 (GRCm39) probably null Het
Fam163a A G 1: 155,954,834 (GRCm39) F106L probably damaging Het
Gfy T C 7: 44,827,596 (GRCm39) T167A probably benign Het
Gm6525 A T 3: 84,082,341 (GRCm39) R87S probably benign Het
Gramd1c C A 16: 43,879,584 (GRCm39) A19S possibly damaging Het
Herc2 T C 7: 55,781,034 (GRCm39) V1233A probably damaging Het
Hibch G A 1: 52,892,874 (GRCm39) probably null Het
Ibsp A T 5: 104,450,027 (GRCm39) S9C probably benign Het
Il17ra A G 6: 120,452,572 (GRCm39) I252V probably benign Het
Ino80 A T 2: 119,204,918 (GRCm39) M1536K probably benign Het
Ipo11 A T 13: 107,012,078 (GRCm39) L568Q probably damaging Het
Kdm5b T G 1: 134,552,497 (GRCm39) S1158A probably benign Het
Kmt2a T C 9: 44,759,012 (GRCm39) T946A probably benign Het
Kmt2e A T 5: 23,697,292 (GRCm39) probably benign Het
Krba1 G A 6: 48,389,261 (GRCm39) V594M probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lig1 C T 7: 13,025,175 (GRCm39) P227S probably benign Het
Lims2 T A 18: 32,090,017 (GRCm39) D255E probably benign Het
Marchf3 C T 18: 56,909,161 (GRCm39) C208Y probably benign Het
Mei1 A G 15: 81,976,843 (GRCm39) E142G Het
Melk G T 4: 44,351,106 (GRCm39) R549L probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myorg T C 4: 41,498,268 (GRCm39) Y454C probably damaging Het
Nae1 T C 8: 105,250,215 (GRCm39) Y226C possibly damaging Het
Nap1l1 T C 10: 111,326,964 (GRCm39) F175S probably damaging Het
Ndn T C 7: 61,998,709 (GRCm39) L185P probably damaging Het
Ndst3 T A 3: 123,465,388 (GRCm39) I195F possibly damaging Het
Ndufaf1 A T 2: 119,488,907 (GRCm39) S206T probably benign Het
Nek10 C A 14: 14,836,171 (GRCm38) H131N probably benign Het
Obsl1 T A 1: 75,466,360 (GRCm39) D1456V possibly damaging Het
Or10a2 A G 7: 106,673,448 (GRCm39) N138D probably benign Het
Or10ak7 C T 4: 118,791,215 (GRCm39) V277I probably benign Het
Or52s6 T A 7: 103,092,292 (GRCm39) T13S probably benign Het
Otog C T 7: 45,937,474 (GRCm39) L1728F probably damaging Het
Pcx A T 19: 4,652,361 (GRCm39) M150L possibly damaging Het
Pole A G 5: 110,444,973 (GRCm39) D443G possibly damaging Het
Prr14 G T 7: 127,075,648 (GRCm39) R552L probably damaging Het
Rasgrf1 T G 9: 89,899,125 (GRCm39) S1156A possibly damaging Het
Rfc4 T A 16: 22,946,359 (GRCm39) probably benign Het
Rfx5 G T 3: 94,866,272 (GRCm39) A524S unknown Het
Ryr3 G A 2: 112,596,664 (GRCm39) P2497S probably damaging Het
Scg3 T C 9: 75,590,992 (GRCm39) T6A probably benign Het
Slc26a9 A T 1: 131,690,526 (GRCm39) D510V possibly damaging Het
Stpg3 A G 2: 25,104,586 (GRCm39) F10L probably damaging Het
Tmc5 T A 7: 118,239,179 (GRCm39) H357Q possibly damaging Het
Tmem40 A T 6: 115,707,420 (GRCm39) L253H probably damaging Het
Tmie A G 9: 110,696,632 (GRCm39) V83A probably damaging Het
Uck2 A T 1: 167,054,084 (GRCm39) I218N probably damaging Het
Vtn A G 11: 78,391,626 (GRCm39) D310G possibly damaging Het
Wdr49 A T 3: 75,240,580 (GRCm39) S430T probably benign Het
Wtip A G 7: 33,832,087 (GRCm39) V133A probably benign Het
Zbtb9 T A 17: 27,193,666 (GRCm39) V357E probably damaging Het
Zfp953 G A 13: 67,491,706 (GRCm39) T82M probably benign 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
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
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'- CCCTCTTTTATAAAAGGAAGAGACC -3'
(R):5'- TCAATTCCCTGACTGTGAATCTAG -3'

Sequencing Primer
(F):5'- ATCGGTATTTACAGGGGCTCCAATC -3'
(R):5'- TCCCTGACTGTGAATCTAGAAAGAGC -3'
Posted On 2019-09-26