Incidental Mutation 'IGL02586:Kcnf1'
| ID |
299532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnf1
|
| Ensembl Gene |
ENSMUSG00000051726 |
| Gene Name |
potassium voltage-gated channel, subfamily F, member 1 |
| Synonyms |
LOC382571 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL02586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
17222101-17226551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17226144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 26
(S26C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170580]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170580
AA Change: S26C
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131480
Gene: ENSMUSG00000051726
AA Change: S26C
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
147 |
2.32e-2 |
SMART |
|
Pfam:Ion_trans
|
193 |
429 |
1.3e-49 |
PFAM |
|
Pfam:Ion_trans_2
|
337 |
423 |
3.4e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,243,983 (GRCm39) |
I1949V |
possibly damaging |
Het |
| Anapc2 |
T |
A |
2: 25,175,108 (GRCm39) |
M742K |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,917,200 (GRCm39) |
K380* |
probably null |
Het |
| Armc1 |
G |
T |
3: 19,188,192 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,098,757 (GRCm39) |
W4626* |
probably null |
Het |
| Diaph3 |
A |
T |
14: 87,223,512 (GRCm39) |
L323* |
probably null |
Het |
| Fbxo11 |
C |
T |
17: 88,318,711 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
C |
T |
17: 23,974,676 (GRCm39) |
A655T |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,160 (GRCm39) |
D1327G |
probably damaging |
Het |
| Ggact |
G |
A |
14: 123,128,942 (GRCm39) |
T91I |
possibly damaging |
Het |
| Gm10250 |
T |
A |
15: 5,150,412 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,765,641 (GRCm39) |
S303G |
probably damaging |
Het |
| Helt |
T |
C |
8: 46,746,276 (GRCm39) |
E15G |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,911,819 (GRCm39) |
T280A |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,559,539 (GRCm39) |
D110E |
possibly damaging |
Het |
| Mepe |
C |
A |
5: 104,485,316 (GRCm39) |
T152N |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,260,810 (GRCm39) |
D121G |
possibly damaging |
Het |
| Or6c214 |
A |
G |
10: 129,590,524 (GRCm39) |
I265T |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,068 (GRCm39) |
D718G |
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,967,334 (GRCm39) |
|
probably benign |
Het |
| Pigc |
A |
T |
1: 161,798,503 (GRCm39) |
I162F |
probably benign |
Het |
| Raf1 |
A |
G |
6: 115,597,267 (GRCm39) |
L11P |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,007,261 (GRCm39) |
Y573C |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rnf149 |
T |
G |
1: 39,604,296 (GRCm39) |
Q189P |
probably benign |
Het |
| Slc11a1 |
T |
C |
1: 74,424,291 (GRCm39) |
|
probably benign |
Het |
| Slc22a12 |
C |
T |
19: 6,590,487 (GRCm39) |
M234I |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,814,167 (GRCm39) |
I455F |
probably benign |
Het |
| Slc35f5 |
T |
G |
1: 125,512,273 (GRCm39) |
L358V |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,235,147 (GRCm39) |
V562D |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ushbp1 |
T |
C |
8: 71,841,394 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,735 (GRCm39) |
Y30* |
probably null |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,434 (GRCm39) |
Y174* |
probably null |
Het |
| Wwox |
T |
C |
8: 115,438,947 (GRCm39) |
Y338H |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,811,261 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kcnf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:Kcnf1
|
APN |
12 |
17,225,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation