Incidental Mutation 'R3755:Kcna7'
| ID |
271392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcna7
|
| Ensembl Gene |
ENSMUSG00000038201 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, member 7 |
| Synonyms |
Kv1.7 |
| MMRRC Submission |
040738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R3755 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45055077-45059187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45058369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 219
(F219L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058879]
[ENSMUST00000107774]
[ENSMUST00000210347]
|
| AlphaFold |
Q17ST2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058879
|
| SMART Domains |
Protein: ENSMUSP00000057916
Gene: ENSMUSG00000074121
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
74 |
N/A |
INTRINSIC |
|
NGF
|
88 |
201 |
8.06e-83 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107774
AA Change: F219L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103403
Gene: ENSMUSG00000038201
AA Change: F219L
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
45 |
145 |
1.77e-7 |
SMART |
|
Pfam:Ion_trans
|
174 |
438 |
1.7e-52 |
PFAM |
|
Pfam:Ion_trans_2
|
346 |
432 |
1.7e-13 |
PFAM |
|
low complexity region
|
471 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210347
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
C |
A |
10: 29,098,110 (GRCm39) |
S169Y |
probably damaging |
Het |
| Abcb1a |
G |
A |
5: 8,797,403 (GRCm39) |
V1225M |
possibly damaging |
Het |
| Adamdec1 |
A |
T |
14: 68,814,587 (GRCm39) |
I130N |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
| Bace2 |
C |
G |
16: 97,237,857 (GRCm39) |
T436R |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,638,114 (GRCm39) |
Q430* |
probably null |
Het |
| Ccdc30 |
A |
T |
4: 119,225,005 (GRCm39) |
|
probably null |
Het |
| Ces5a |
T |
C |
8: 94,255,130 (GRCm39) |
T184A |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,411,594 (GRCm39) |
C493R |
possibly damaging |
Het |
| Creb3l2 |
A |
T |
6: 37,340,961 (GRCm39) |
I146N |
possibly damaging |
Het |
| Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,748,348 (GRCm39) |
V27I |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,808,561 (GRCm39) |
D1627N |
probably benign |
Het |
| Gcdh |
A |
G |
8: 85,620,109 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,941,349 (GRCm39) |
L280S |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,933,060 (GRCm39) |
V2073D |
probably damaging |
Het |
| Kprp |
A |
G |
3: 92,732,346 (GRCm39) |
S235P |
unknown |
Het |
| Lpp |
A |
G |
16: 24,663,911 (GRCm39) |
H396R |
probably benign |
Het |
| Lrch4 |
T |
A |
5: 137,635,992 (GRCm39) |
D348E |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,502,048 (GRCm39) |
N179S |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,241,936 (GRCm39) |
S418R |
probably damaging |
Het |
| Or52b1 |
A |
G |
7: 104,979,358 (GRCm39) |
F14L |
probably damaging |
Het |
| Or8s2 |
A |
C |
15: 98,276,463 (GRCm39) |
I176S |
probably benign |
Het |
| Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,359,171 (GRCm39) |
T844I |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,452,802 (GRCm39) |
E3909V |
probably damaging |
Het |
| Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
| Ptpn1 |
T |
C |
2: 167,816,143 (GRCm39) |
I219T |
probably damaging |
Het |
| Rad18 |
T |
C |
6: 112,670,432 (GRCm39) |
N44S |
probably damaging |
Het |
| Reep5 |
T |
C |
18: 34,505,527 (GRCm39) |
Y48C |
probably damaging |
Het |
| Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
| Rundc3a |
A |
G |
11: 102,290,085 (GRCm39) |
I175V |
possibly damaging |
Het |
| Slamf1 |
C |
T |
1: 171,604,728 (GRCm39) |
A166V |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
| Snap23 |
T |
A |
2: 120,416,726 (GRCm39) |
C79S |
probably damaging |
Het |
| Spag6l |
A |
C |
16: 16,580,884 (GRCm39) |
|
probably null |
Het |
| Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
| Trav4-3 |
C |
A |
14: 53,836,596 (GRCm39) |
S20R |
probably benign |
Het |
| Tssk2 |
G |
A |
16: 17,716,827 (GRCm39) |
E77K |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,195,482 (GRCm39) |
F1051S |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,498 (GRCm39) |
T414A |
probably benign |
Het |
| Urod |
C |
T |
4: 116,850,601 (GRCm39) |
C66Y |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,271 (GRCm39) |
K62E |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,578,106 (GRCm39) |
S460P |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zbtb7a |
C |
T |
10: 80,980,100 (GRCm39) |
T98M |
probably damaging |
Het |
| Zfp524 |
C |
A |
7: 5,020,884 (GRCm39) |
H137Q |
probably damaging |
Het |
|
| Other mutations in Kcna7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Kcna7
|
APN |
7 |
45,055,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Kcna7
|
APN |
7 |
45,059,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0373:Kcna7
|
UTSW |
7 |
45,058,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Kcna7
|
UTSW |
7 |
45,059,114 (GRCm39) |
missense |
probably null |
1.00 |
|
R0850:Kcna7
|
UTSW |
7 |
45,058,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1721:Kcna7
|
UTSW |
7 |
45,056,345 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1727:Kcna7
|
UTSW |
7 |
45,058,930 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3040:Kcna7
|
UTSW |
7 |
45,056,212 (GRCm39) |
frame shift |
probably null |
|
|
R5024:Kcna7
|
UTSW |
7 |
45,056,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Kcna7
|
UTSW |
7 |
45,056,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Kcna7
|
UTSW |
7 |
45,056,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Kcna7
|
UTSW |
7 |
45,056,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Kcna7
|
UTSW |
7 |
45,056,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6669:Kcna7
|
UTSW |
7 |
45,058,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Kcna7
|
UTSW |
7 |
45,058,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Kcna7
|
UTSW |
7 |
45,058,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8028:Kcna7
|
UTSW |
7 |
45,058,947 (GRCm39) |
nonsense |
probably null |
|
|
R8326:Kcna7
|
UTSW |
7 |
45,058,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9719:Kcna7
|
UTSW |
7 |
45,056,390 (GRCm39) |
missense |
probably benign |
|
|
R9744:Kcna7
|
UTSW |
7 |
45,056,402 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Kcna7
|
UTSW |
7 |
45,058,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Kcna7
|
UTSW |
7 |
45,056,383 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1177:Kcna7
|
UTSW |
7 |
45,058,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGTCTCATTAGTTGTCAGACC -3'
(R):5'- TCACATTCTTGAAGAACACAGC -3'
Sequencing Primer
(F):5'- ATGACAGGCTCATGTCACTAGGC -3'
(R):5'- AACACAGCTTTGCTAGGGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation