Incidental Mutation 'IGL02493:Kcnu1'
ID295718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnu1
Ensembl Gene ENSMUSG00000031576
Gene Namepotassium channel, subfamily U, member 1
SynonymsKcnma3, Slo3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02493
Quality Score
Status
Chromosome8
Chromosomal Location25849623-25937939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25937520 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 288 (N288K)
Ref Sequence ENSEMBL: ENSMUSP00000113442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098858] [ENSMUST00000120653]
Predicted Effect probably benign
Transcript: ENSMUST00000098858
AA Change: N1028K

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: N1028K

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 possibly damaging
Transcript: ENSMUST00000120653
AA Change: N288K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576
AA Change: N288K

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 60,016,463 S43R probably benign Het
Afap1l1 G T 18: 61,737,523 Q595K possibly damaging Het
Alpk2 T C 18: 65,350,331 E202G probably benign Het
Ap3b1 T C 13: 94,404,020 V150A probably damaging Het
BC037034 T C 5: 138,263,170 probably null Het
Bcas3 T C 11: 85,495,882 I381T probably damaging Het
Best3 A T 10: 117,024,601 R589W possibly damaging Het
Birc6 A G 17: 74,652,059 probably benign Het
Clcn4 A C 7: 7,284,244 D728E probably damaging Het
Commd2 C A 3: 57,651,659 probably benign Het
Csrp1 T A 1: 135,751,063 F175L probably damaging Het
Eif3c A T 7: 126,558,901 N294K probably damaging Het
Fam184a A G 10: 53,694,693 probably null Het
Fndc1 G T 17: 7,775,545 P297Q unknown Het
Galnt13 A G 2: 54,880,137 I314V probably benign Het
Gimap6 T A 6: 48,702,669 K144N probably damaging Het
Gm10188 A T 1: 132,229,405 C74* probably null Het
Gpatch2 C T 1: 187,233,128 probably benign Het
Hace1 T A 10: 45,588,419 M39K probably damaging Het
Has2 G T 15: 56,667,924 T465K probably damaging Het
Homer3 T A 8: 70,290,071 V144D probably benign Het
Ift140 A T 17: 25,087,924 K878* probably null Het
Ikbip A G 10: 91,096,594 N367D probably damaging Het
Immt T C 6: 71,844,716 probably benign Het
Isca1 A G 13: 59,762,782 V32A possibly damaging Het
Kmt2b C T 7: 30,569,511 probably benign Het
Lrguk T A 6: 34,129,192 D717E probably benign Het
Lrp1 C T 10: 127,581,778 G1037E probably damaging Het
Man2a2 T A 7: 80,369,615 Q37L possibly damaging Het
Msh4 C T 3: 153,877,908 probably null Het
Mtf1 C T 4: 124,821,319 R246W probably damaging Het
Mvb12b A G 2: 33,840,209 S57P probably benign Het
Nat8f5 A G 6: 85,817,562 F139L probably benign Het
Npepps A G 11: 97,238,159 F400L probably damaging Het
Ntsr2 T A 12: 16,658,389 S248T possibly damaging Het
Olfr1450 T C 19: 12,953,774 F62L probably benign Het
Olfr480 A T 7: 108,065,805 M331K possibly damaging Het
Oplah G A 15: 76,300,955 R853* probably null Het
Plekhh2 G A 17: 84,606,963 probably null Het
Pskh1 G A 8: 105,929,756 V355I probably benign Het
Rab31 A T 17: 65,717,552 M44K possibly damaging Het
Slc5a4b A G 10: 76,075,015 V329A probably damaging Het
Slc5a7 A G 17: 54,293,880 Y76H probably damaging Het
Treh A T 9: 44,682,949 D164V possibly damaging Het
Trim6 A G 7: 104,232,640 Y366C probably benign Het
Ubr7 T C 12: 102,768,220 V251A probably benign Het
Vmn1r35 T A 6: 66,679,479 N69I possibly damaging Het
Zan A G 5: 137,435,706 L2255P unknown Het
Other mutations in Kcnu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Kcnu1 APN 8 25897856 missense probably benign 0.00
IGL00580:Kcnu1 APN 8 25865663 missense probably benign 0.04
IGL00675:Kcnu1 APN 8 25851849 missense probably benign
IGL00928:Kcnu1 APN 8 25849735 missense probably damaging 1.00
IGL01324:Kcnu1 APN 8 25849707 missense probably benign 0.22
IGL01346:Kcnu1 APN 8 25934523 splice site probably benign
IGL01361:Kcnu1 APN 8 25886768 missense possibly damaging 0.78
IGL01651:Kcnu1 APN 8 25861095 missense probably damaging 1.00
IGL01795:Kcnu1 APN 8 25913705 missense probably damaging 1.00
IGL01800:Kcnu1 APN 8 25937500 missense probably damaging 1.00
IGL01975:Kcnu1 APN 8 25934497 missense probably benign 0.29
IGL02103:Kcnu1 APN 8 25905948 missense possibly damaging 0.83
IGL02109:Kcnu1 APN 8 25937699 missense possibly damaging 0.66
IGL02127:Kcnu1 APN 8 25892062 missense probably damaging 1.00
IGL02170:Kcnu1 APN 8 25937560 missense probably damaging 1.00
IGL02217:Kcnu1 APN 8 25858184 missense probably damaging 1.00
IGL02385:Kcnu1 APN 8 25932270 missense probably damaging 1.00
IGL02883:Kcnu1 APN 8 25849827 missense probably benign
IGL02884:Kcnu1 APN 8 25921528 missense probably damaging 1.00
IGL03022:Kcnu1 APN 8 25937586 missense probably damaging 0.98
IGL03281:Kcnu1 APN 8 25892077 missense probably null 1.00
IGL03345:Kcnu1 APN 8 25881293 splice site probably benign
P0026:Kcnu1 UTSW 8 25892122 missense probably damaging 1.00
PIT4677001:Kcnu1 UTSW 8 25905993 missense probably benign
R0001:Kcnu1 UTSW 8 25859270 missense probably damaging 1.00
R0419:Kcnu1 UTSW 8 25937618 missense probably benign 0.13
R0518:Kcnu1 UTSW 8 25910888 missense probably damaging 1.00
R0521:Kcnu1 UTSW 8 25910888 missense probably damaging 1.00
R0581:Kcnu1 UTSW 8 25937501 missense probably damaging 1.00
R0840:Kcnu1 UTSW 8 25913684 start codon destroyed probably null 1.00
R1282:Kcnu1 UTSW 8 25905957 missense probably benign 0.02
R1556:Kcnu1 UTSW 8 25861191 critical splice donor site probably null
R1600:Kcnu1 UTSW 8 25849793 missense probably damaging 1.00
R2011:Kcnu1 UTSW 8 25918442 missense probably benign 0.03
R2035:Kcnu1 UTSW 8 25896693 missense probably benign 0.35
R2082:Kcnu1 UTSW 8 25921549 missense probably damaging 1.00
R2132:Kcnu1 UTSW 8 25851900 missense probably damaging 0.99
R2415:Kcnu1 UTSW 8 25910878 missense probably benign
R2513:Kcnu1 UTSW 8 25905966 missense probably benign 0.00
R3712:Kcnu1 UTSW 8 25881420 missense probably damaging 1.00
R3749:Kcnu1 UTSW 8 25886770 missense probably null 0.01
R3840:Kcnu1 UTSW 8 25885352 missense possibly damaging 0.95
R3874:Kcnu1 UTSW 8 25885317 missense probably damaging 1.00
R4184:Kcnu1 UTSW 8 25862417 missense probably damaging 1.00
R4576:Kcnu1 UTSW 8 25890020 missense probably benign 0.06
R4658:Kcnu1 UTSW 8 25937555 missense probably damaging 1.00
R4667:Kcnu1 UTSW 8 25910921 missense possibly damaging 0.69
R4791:Kcnu1 UTSW 8 25913752 missense probably damaging 1.00
R4940:Kcnu1 UTSW 8 25897862 splice site probably null
R5120:Kcnu1 UTSW 8 25934488 missense possibly damaging 0.79
R5314:Kcnu1 UTSW 8 25862458 missense probably damaging 0.97
R5712:Kcnu1 UTSW 8 25919650 missense probably damaging 1.00
R5807:Kcnu1 UTSW 8 25849714 missense possibly damaging 0.78
R6237:Kcnu1 UTSW 8 25932334 missense probably benign
R6260:Kcnu1 UTSW 8 25851891 missense probably damaging 1.00
R6360:Kcnu1 UTSW 8 25861180 missense possibly damaging 0.73
R6612:Kcnu1 UTSW 8 25918316 missense probably benign 0.10
R6708:Kcnu1 UTSW 8 25937711 missense probably benign
R6765:Kcnu1 UTSW 8 25913645 missense probably damaging 1.00
R6816:Kcnu1 UTSW 8 25937734 nonsense probably null
R7030:Kcnu1 UTSW 8 25918463 missense probably benign 0.00
R7202:Kcnu1 UTSW 8 25919581 splice site probably null
R7208:Kcnu1 UTSW 8 25919637 nonsense probably null
R7411:Kcnu1 UTSW 8 25892088 missense probably damaging 1.00
R7520:Kcnu1 UTSW 8 25885340 missense probably damaging 1.00
R7579:Kcnu1 UTSW 8 25896658 missense probably damaging 1.00
Z1177:Kcnu1 UTSW 8 25849764 missense probably damaging 1.00
Posted On2015-04-16