MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008]
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Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
Abca2 |
T |
A |
2: 25,336,794 (GRCm39) |
|
probably null |
Het |
Ano7 |
T |
A |
1: 93,323,230 (GRCm39) |
V497D |
probably benign |
Het |
B4gat1 |
T |
C |
19: 5,090,037 (GRCm39) |
Y345H |
probably damaging |
Het |
Bckdha |
T |
A |
7: 25,358,132 (GRCm39) |
R12W |
possibly damaging |
Het |
Bcl7c |
T |
A |
7: 127,306,608 (GRCm39) |
N93Y |
probably damaging |
Het |
Cc2d2a |
C |
A |
5: 43,846,345 (GRCm39) |
T368K |
probably benign |
Het |
Chek1 |
G |
A |
9: 36,629,717 (GRCm39) |
Q210* |
probably null |
Het |
Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,805,872 (GRCm39) |
F2228I |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
Dph7 |
T |
C |
2: 24,855,629 (GRCm39) |
S143P |
possibly damaging |
Het |
Ehbp1 |
T |
A |
11: 22,039,636 (GRCm39) |
K821N |
probably damaging |
Het |
Eomes |
T |
C |
9: 118,313,898 (GRCm39) |
S648P |
probably benign |
Het |
Fam20a |
A |
G |
11: 109,573,738 (GRCm39) |
V215A |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,862,259 (GRCm39) |
|
probably null |
Het |
Frem2 |
A |
G |
3: 53,448,459 (GRCm39) |
V2319A |
probably benign |
Het |
Gtf3c4 |
T |
C |
2: 28,723,584 (GRCm39) |
D575G |
probably benign |
Het |
Ifit1bl2 |
A |
G |
19: 34,596,404 (GRCm39) |
V404A |
probably benign |
Het |
Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
Klra4 |
T |
A |
6: 130,038,985 (GRCm39) |
T136S |
probably benign |
Het |
Mcrs1 |
A |
T |
15: 99,141,266 (GRCm39) |
I399N |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,814,368 (GRCm39) |
E866G |
possibly damaging |
Het |
Notch3 |
T |
C |
17: 32,363,445 (GRCm39) |
D1206G |
probably damaging |
Het |
Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
Or14c43 |
T |
A |
7: 86,115,480 (GRCm39) |
I287N |
probably damaging |
Het |
Or4z4 |
A |
C |
19: 12,076,769 (GRCm39) |
V78G |
probably benign |
Het |
Or5ae1 |
T |
A |
7: 84,565,590 (GRCm39) |
V201E |
probably damaging |
Het |
Or5b95 |
A |
C |
19: 12,658,113 (GRCm39) |
I214L |
probably benign |
Het |
Or6c210 |
A |
G |
10: 129,495,995 (GRCm39) |
T107A |
probably benign |
Het |
Pnkd |
A |
G |
1: 74,390,716 (GRCm39) |
N336D |
probably damaging |
Het |
Prag1 |
T |
C |
8: 36,571,088 (GRCm39) |
V557A |
probably benign |
Het |
Ptgfr |
A |
C |
3: 151,541,323 (GRCm39) |
S62A |
probably benign |
Het |
Smc2 |
A |
G |
4: 52,450,842 (GRCm39) |
Y220C |
probably damaging |
Het |
Sufu |
G |
A |
19: 46,439,382 (GRCm39) |
E246K |
probably damaging |
Het |
Sult2a1 |
T |
A |
7: 13,566,604 (GRCm39) |
R124* |
probably null |
Het |
Sult4a1 |
T |
A |
15: 83,970,817 (GRCm39) |
Y196F |
possibly damaging |
Het |
Trim15 |
G |
A |
17: 37,175,975 (GRCm39) |
R191W |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
Usp16 |
T |
C |
16: 87,263,164 (GRCm39) |
V122A |
possibly damaging |
Het |
Vmn1r122 |
T |
A |
7: 20,868,036 (GRCm39) |
K6N |
probably benign |
Het |
Vmn1r34 |
G |
A |
6: 66,613,899 (GRCm39) |
Q280* |
probably null |
Het |
Vmn2r45 |
T |
A |
7: 8,484,332 (GRCm39) |
H491L |
possibly damaging |
Het |
Wdpcp |
T |
C |
11: 21,661,949 (GRCm39) |
L407P |
probably damaging |
Het |
Zfp157 |
T |
C |
5: 138,445,840 (GRCm39) |
I65T |
probably benign |
Het |
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Other mutations in Kcnf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02586:Kcnf1
|
APN |
12 |
17,226,144 (GRCm39) |
missense |
probably benign |
0.27 |
R0931:Kcnf1
|
UTSW |
12 |
17,225,142 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1068:Kcnf1
|
UTSW |
12 |
17,225,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R1558:Kcnf1
|
UTSW |
12 |
17,225,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R1571:Kcnf1
|
UTSW |
12 |
17,225,853 (GRCm39) |
missense |
probably benign |
0.00 |
R1607:Kcnf1
|
UTSW |
12 |
17,225,733 (GRCm39) |
missense |
probably benign |
0.26 |
R2471:Kcnf1
|
UTSW |
12 |
17,225,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R4013:Kcnf1
|
UTSW |
12 |
17,225,994 (GRCm39) |
missense |
probably benign |
0.01 |
R4095:Kcnf1
|
UTSW |
12 |
17,225,480 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4980:Kcnf1
|
UTSW |
12 |
17,225,012 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5157:Kcnf1
|
UTSW |
12 |
17,224,742 (GRCm39) |
missense |
probably benign |
|
R6017:Kcnf1
|
UTSW |
12 |
17,225,082 (GRCm39) |
missense |
probably damaging |
0.97 |
R7130:Kcnf1
|
UTSW |
12 |
17,225,810 (GRCm39) |
missense |
probably benign |
0.27 |
R7225:Kcnf1
|
UTSW |
12 |
17,225,694 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7308:Kcnf1
|
UTSW |
12 |
17,224,730 (GRCm39) |
missense |
probably benign |
0.13 |
R7614:Kcnf1
|
UTSW |
12 |
17,224,787 (GRCm39) |
missense |
probably benign |
0.03 |
R7624:Kcnf1
|
UTSW |
12 |
17,226,137 (GRCm39) |
missense |
probably benign |
|
R8510:Kcnf1
|
UTSW |
12 |
17,225,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R8990:Kcnf1
|
UTSW |
12 |
17,225,336 (GRCm39) |
missense |
probably benign |
0.10 |
R9015:Kcnf1
|
UTSW |
12 |
17,225,303 (GRCm39) |
missense |
probably damaging |
1.00 |
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