Incidental Mutation 'R1068:Kcnf1'
| ID |
86100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnf1
|
| Ensembl Gene |
ENSMUSG00000051726 |
| Gene Name |
potassium voltage-gated channel, subfamily F, member 1 |
| Synonyms |
LOC382571 |
| MMRRC Submission |
039154-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1068 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
17222101-17226551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17225475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 249
(Y249H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170580]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170580
AA Change: Y249H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131480
Gene: ENSMUSG00000051726
AA Change: Y249H
| 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 |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,139 (GRCm39) |
V25E |
unknown |
Het |
| Acsm4 |
C |
A |
7: 119,307,933 (GRCm39) |
Q357K |
probably benign |
Het |
| Adam11 |
T |
G |
11: 102,667,204 (GRCm39) |
L619R |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,192,850 (GRCm39) |
N17S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,829,830 (GRCm39) |
H313R |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,543,361 (GRCm39) |
H833L |
probably damaging |
Het |
| Csnk1a1 |
G |
T |
18: 61,702,634 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
T |
C |
19: 39,801,025 (GRCm39) |
K77E |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,186,109 (GRCm39) |
E159G |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,881,330 (GRCm39) |
V3181I |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,526,801 (GRCm39) |
D99G |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,301,812 (GRCm39) |
E125G |
probably benign |
Het |
| Kit |
C |
T |
5: 75,770,178 (GRCm39) |
H197Y |
probably benign |
Het |
| Memo1 |
T |
A |
17: 74,532,550 (GRCm39) |
I153F |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,224,776 (GRCm39) |
N597I |
possibly damaging |
Het |
| Nop2 |
A |
G |
6: 125,109,242 (GRCm39) |
K23E |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,740,118 (GRCm39) |
V95E |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,472,590 (GRCm39) |
C630S |
probably damaging |
Het |
| Ptprh |
G |
T |
7: 4,552,462 (GRCm39) |
P934Q |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,837,095 (GRCm39) |
|
probably null |
Het |
| Ralyl |
T |
A |
3: 13,841,949 (GRCm39) |
N28K |
probably damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,061,138 (GRCm39) |
M1K |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Snx19 |
G |
A |
9: 30,340,314 (GRCm39) |
R484Q |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,241,024 (GRCm39) |
L156Q |
probably null |
Het |
| St18 |
A |
G |
1: 6,865,786 (GRCm39) |
D88G |
probably benign |
Het |
| Syt7 |
T |
C |
19: 10,421,375 (GRCm39) |
Y520H |
probably benign |
Het |
| Taf7l2 |
C |
T |
10: 115,949,359 (GRCm39) |
V56I |
probably damaging |
Het |
| Tle4 |
C |
G |
19: 14,429,543 (GRCm39) |
W674C |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,587,124 (GRCm39) |
Y132N |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps11 |
A |
T |
9: 44,264,316 (GRCm39) |
L719Q |
probably damaging |
Het |
| Zc3h4 |
T |
G |
7: 16,163,161 (GRCm39) |
H520Q |
unknown |
Het |
| Zdbf2 |
C |
T |
1: 63,342,589 (GRCm39) |
R323C |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,973,767 (GRCm39) |
*99K |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAATAGCCCCAGTTCCTTGAAAC -3'
(R):5'- TAGAGAAGCCGGAGTCTTCATGCC -3'
Sequencing Primer
(F):5'- AGTTCCTTGAAACTGCGCTTG -3'
(R):5'- GAGTCTTCATGCCCTGCG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation