Incidental Mutation 'R5712:Kcnu1'
| ID |
450951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnu1
|
| Ensembl Gene |
ENSMUSG00000031576 |
| Gene Name |
potassium channel, subfamily U, member 1 |
| Synonyms |
Slo3, Kcnma3 |
| MMRRC Submission |
043334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5712 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26339651-26427967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26409678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 127
(L127H)
|
| 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 damaging
Transcript: ENSMUST00000098858
AA Change: L867H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: L867H
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000120653
AA Change: L127H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576
AA Change: L127H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4HPF|B
|
1 |
332 |
1e-144 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126226
AA Change: L127H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123273
Gene: ENSMUSG00000031576
AA Change: L127H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4HPF|B
|
1 |
160 |
5e-61 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,563 (GRCm39) |
T133A |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,626,715 (GRCm39) |
E708K |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,475,883 (GRCm39) |
C300R |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,675,646 (GRCm39) |
N52D |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,959,297 (GRCm39) |
S2225T |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,716,995 (GRCm39) |
Y257F |
probably damaging |
Het |
| Atp2b4 |
A |
C |
1: 133,658,278 (GRCm39) |
V544G |
probably damaging |
Het |
| Bclaf1 |
T |
G |
10: 20,209,277 (GRCm39) |
Y498D |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,796,954 (GRCm39) |
I1520T |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,168,378 (GRCm39) |
L22P |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,471,992 (GRCm39) |
P129Q |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,390,332 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
T |
11: 87,765,679 (GRCm39) |
Y93* |
probably null |
Het |
| Erich6b |
T |
A |
14: 75,896,340 (GRCm39) |
D75E |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,390,476 (GRCm39) |
Y350* |
probably null |
Het |
| Fam13a |
T |
A |
6: 58,933,684 (GRCm39) |
D302V |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fga |
C |
T |
3: 82,940,440 (GRCm39) |
T698I |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,839,192 (GRCm39) |
S6987P |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,421 (GRCm39) |
N106I |
possibly damaging |
Het |
| Gls |
T |
A |
1: 52,235,911 (GRCm39) |
K401N |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,291,254 (GRCm39) |
K146E |
probably damaging |
Het |
| Gpr3 |
A |
G |
4: 132,937,719 (GRCm39) |
S318P |
probably benign |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,205 (GRCm39) |
V679A |
possibly damaging |
Het |
| Lck |
G |
T |
4: 129,450,103 (GRCm39) |
H214Q |
probably benign |
Het |
| Lrch4 |
A |
C |
5: 137,636,188 (GRCm39) |
S380R |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,425 (GRCm39) |
K414* |
probably null |
Het |
| Maco1 |
A |
T |
4: 134,555,369 (GRCm39) |
M368K |
probably benign |
Het |
| Med11 |
A |
G |
11: 70,344,058 (GRCm39) |
E126G |
probably damaging |
Het |
| Mknk1 |
A |
G |
4: 115,712,203 (GRCm39) |
|
probably null |
Het |
| Mst1 |
T |
C |
9: 107,960,107 (GRCm39) |
C355R |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,872,841 (GRCm39) |
E890V |
probably damaging |
Het |
| Myl10 |
T |
C |
5: 136,723,092 (GRCm39) |
F14L |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,325,932 (GRCm39) |
T1125M |
probably benign |
Het |
| Nin |
T |
C |
12: 70,089,543 (GRCm39) |
T1291A |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,265,105 (GRCm39) |
Q335R |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,888 (GRCm39) |
T83A |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,756 (GRCm39) |
M141K |
probably benign |
Het |
| Rnf17 |
G |
A |
14: 56,708,856 (GRCm39) |
V759I |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,511,677 (GRCm39) |
Y18* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,732,010 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
T |
A |
3: 122,914,859 (GRCm39) |
I56F |
probably damaging |
Het |
| Tdrd6 |
C |
A |
17: 43,937,299 (GRCm39) |
G1250C |
probably damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,288 (GRCm39) |
G164D |
probably damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,858 (GRCm39) |
Y67H |
probably damaging |
Het |
| Trim3 |
T |
A |
7: 105,268,743 (GRCm39) |
E70D |
probably damaging |
Het |
| Uap1 |
A |
G |
1: 169,994,414 (GRCm39) |
F21L |
possibly damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,925 (GRCm39) |
V76D |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,743 (GRCm39) |
S3245A |
probably benign |
Het |
| Wnt7a |
T |
C |
6: 91,343,186 (GRCm39) |
Y232C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,360 (GRCm39) |
V4224A |
unknown |
Het |
|
| Other mutations in Kcnu1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GGACCAGAAAGTAACTTTGCTGAG -3'
(R):5'- GTGATTGCAAGTTGACTGACAG -3'
Sequencing Primer
(F):5'- CTGAGAGAAAGCATTGGGTCAC -3'
(R):5'- ATGGCATCCTCAGCTGGATAG -3'
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| Posted On |
2017-01-03 |
Incidental Mutation