Incidental Mutation 'R1224:Kcng3'
| ID |
152851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcng3
|
| Ensembl Gene |
ENSMUSG00000045053 |
| Gene Name |
potassium voltage-gated channel, subfamily G, member 3 |
| Synonyms |
KV6.3, Kv10.1a, Kv10.1b |
| MMRRC Submission |
039293-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R1224 (G1)
|
| Quality Score |
174 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
83893386-83939324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83938824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 75
(L75P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051482]
|
| AlphaFold |
P59053 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051482
AA Change: L75P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054910
Gene: ENSMUSG00000045053
AA Change: L75P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
9 |
119 |
5.2e-5 |
SMART |
|
Pfam:Ion_trans
|
167 |
417 |
4.6e-42 |
PFAM |
|
Pfam:Ion_trans_2
|
321 |
411 |
4.3e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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 G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,931,408 (GRCm39) |
E1248D |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Aldh16a1 |
T |
C |
7: 44,791,471 (GRCm39) |
|
probably null |
Het |
| Aldh9a1 |
T |
A |
1: 167,180,227 (GRCm39) |
I107N |
probably damaging |
Het |
| Atp6ap1l |
G |
A |
13: 91,034,675 (GRCm39) |
Q236* |
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,744,706 (GRCm39) |
I344K |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,778,141 (GRCm39) |
D204V |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,434,878 (GRCm39) |
S346G |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,207,869 (GRCm39) |
C207S |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,710,548 (GRCm39) |
D1190G |
possibly damaging |
Het |
| Gimap8 |
G |
A |
6: 48,627,629 (GRCm39) |
S201N |
probably benign |
Het |
| Gm10153 |
A |
G |
7: 141,744,072 (GRCm39) |
S19P |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Krt31 |
C |
T |
11: 99,940,690 (GRCm39) |
|
probably null |
Het |
| Ly6a |
A |
G |
15: 74,868,327 (GRCm39) |
V54A |
possibly damaging |
Het |
| Map3k7cl |
T |
A |
16: 87,352,891 (GRCm39) |
D21E |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,873,543 (GRCm39) |
L230P |
probably damaging |
Het |
| Rhog |
C |
A |
7: 101,888,959 (GRCm39) |
V165F |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,844 (GRCm39) |
V313A |
probably benign |
Het |
| Sox14 |
G |
C |
9: 99,757,168 (GRCm39) |
H190Q |
probably damaging |
Het |
| Sval2 |
G |
A |
6: 41,841,188 (GRCm39) |
D103N |
probably benign |
Het |
| Tm9sf3 |
A |
T |
19: 41,211,634 (GRCm39) |
V403D |
probably damaging |
Het |
| Tmem269 |
T |
C |
4: 119,074,323 (GRCm39) |
K18R |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,139 (GRCm39) |
F49S |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,809,311 (GRCm39) |
T299S |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,775,324 (GRCm39) |
V6A |
possibly damaging |
Het |
|
| Other mutations in Kcng3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01960:Kcng3
|
APN |
17 |
83,895,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Kcng3
|
UTSW |
17 |
83,895,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Kcng3
|
UTSW |
17 |
83,895,812 (GRCm39) |
splice site |
probably benign |
|
|
R0056:Kcng3
|
UTSW |
17 |
83,895,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0335:Kcng3
|
UTSW |
17 |
83,895,166 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1462:Kcng3
|
UTSW |
17 |
83,938,492 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1601:Kcng3
|
UTSW |
17 |
83,895,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3147:Kcng3
|
UTSW |
17 |
83,895,749 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4854:Kcng3
|
UTSW |
17 |
83,895,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5408:Kcng3
|
UTSW |
17 |
83,938,434 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5719:Kcng3
|
UTSW |
17 |
83,938,563 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5791:Kcng3
|
UTSW |
17 |
83,895,639 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6155:Kcng3
|
UTSW |
17 |
83,895,807 (GRCm39) |
missense |
probably benign |
|
|
R6437:Kcng3
|
UTSW |
17 |
83,938,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Kcng3
|
UTSW |
17 |
83,938,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8279:Kcng3
|
UTSW |
17 |
83,895,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Kcng3
|
UTSW |
17 |
83,939,007 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9072:Kcng3
|
UTSW |
17 |
83,938,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9073:Kcng3
|
UTSW |
17 |
83,938,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9599:Kcng3
|
UTSW |
17 |
83,895,211 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTGCTCCGGTCATCCAGACTGC -3'
(R):5'- AGCTGCTCAAGGACTTCCCGCT -3'
Sequencing Primer
(F):5'- GTTGTCAGCAACCGCCG -3'
(R):5'- AACGAGTACTTCTTCGACCG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation