Incidental Mutation 'R6708:Kcnu1'
ID 529016
Institutional Source Beutler Lab
Gene Symbol Kcnu1
Ensembl Gene ENSMUSG00000031576
Gene Name potassium channel, subfamily U, member 1
Synonyms Slo3, Kcnma3
MMRRC Submission 044826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6708 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 26339651-26427967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26427739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 352 (D352G)
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
AA Change: D1092G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: D1092G

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
AA Change: D352G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576
AA Change: D352G

DomainStartEndE-ValueType
PDB:4HPF|B 1 332 1e-144 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,249,531 (GRCm39) L547P probably damaging Het
Atp8b5 T G 4: 43,334,249 (GRCm39) H338Q probably benign Het
Btbd3 A G 2: 138,125,491 (GRCm39) E225G possibly damaging Het
Cd163 A G 6: 124,286,167 (GRCm39) H239R probably damaging Het
Cdh15 T C 8: 123,590,294 (GRCm39) I409T probably benign Het
Cep55 T A 19: 38,048,709 (GRCm39) S122T probably benign Het
Col5a3 G A 9: 20,686,331 (GRCm39) P1382L unknown Het
Ehmt2 A T 17: 35,118,875 (GRCm39) K186* probably null Het
Elavl2 A T 4: 91,141,634 (GRCm39) I295N probably damaging Het
Elf5 A G 2: 103,279,334 (GRCm39) D185G probably damaging Het
Emx1 A G 6: 85,171,122 (GRCm39) E175G probably damaging Het
Fan1 T G 7: 64,022,554 (GRCm39) N233T probably benign Het
Frem2 T A 3: 53,492,922 (GRCm39) I1865F probably benign Het
Klhdc1 A T 12: 69,306,304 (GRCm39) H247L possibly damaging Het
L3mbtl4 A T 17: 68,937,253 (GRCm39) T425S probably benign Het
Mrpl21 T C 19: 3,336,890 (GRCm39) V87A probably damaging Het
Or4d11 A T 19: 12,014,103 (GRCm39) M1K probably null Het
Or5ac21 T A 16: 59,124,416 (GRCm39) L301Q probably damaging Het
Or6c215 G T 10: 129,637,689 (GRCm39) A235D probably damaging Het
Orc4 A T 2: 48,827,505 (GRCm39) H29Q probably benign Het
Pcnx2 C T 8: 126,587,692 (GRCm39) probably null Het
Pogk A G 1: 166,231,078 (GRCm39) V83A probably damaging Het
Synm T C 7: 67,382,994 (GRCm39) E1556G possibly damaging Het
Tmem109 C A 19: 10,849,395 (GRCm39) L153F probably damaging Het
Ttc8 A G 12: 98,909,791 (GRCm39) T74A probably damaging Het
Zfp180 A T 7: 23,805,521 (GRCm39) T647S 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
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
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'- TTTGTGATCACCAGGCCATC -3'
(R):5'- GATTCACTGGGATAAGATGGTCC -3'

Sequencing Primer
(F):5'- AATGAGTGCCACCTGCTG -3'
(R):5'- GGATAAGATGGTCCCTTCCACAG -3'
Posted On 2018-07-24