Incidental Mutation 'R6430:Kcng4'
| ID |
518487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcng4
|
| Ensembl Gene |
ENSMUSG00000045246 |
| Gene Name |
potassium voltage-gated channel, subfamily G, member 4 |
| Synonyms |
4921535I01Rik, KV6.3, KV6.4 |
| MMRRC Submission |
044568-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6430 (G1)
|
| Quality Score |
146.008 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120350593-120362419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120359789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 196
(S196P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061828]
[ENSMUST00000164382]
|
| AlphaFold |
Q80XM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061828
AA Change: S196P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056552
Gene: ENSMUSG00000045246
AA Change: S196P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
58 |
168 |
7.13e-3 |
SMART |
|
Pfam:Ion_trans
|
218 |
462 |
1.2e-40 |
PFAM |
|
Pfam:Ion_trans_2
|
370 |
457 |
7e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164382
AA Change: S196P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129687
Gene: ENSMUSG00000045246
AA Change: S196P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
58 |
168 |
7.13e-3 |
SMART |
|
Pfam:Ion_trans
|
262 |
451 |
6.6e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
371 |
457 |
1.7e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (47/47) |
| 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 functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
| Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
| Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
| Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
| Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
| Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
| Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
| Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
| Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
| Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
probably null |
Het |
|
| Other mutations in Kcng4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00569:Kcng4
|
APN |
8 |
120,353,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01360:Kcng4
|
APN |
8 |
120,352,416 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02094:Kcng4
|
APN |
8 |
120,359,960 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02205:Kcng4
|
APN |
8 |
120,352,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02892:Kcng4
|
APN |
8 |
120,359,821 (GRCm39) |
missense |
probably benign |
|
|
IGL02927:Kcng4
|
APN |
8 |
120,353,061 (GRCm39) |
missense |
probably benign |
|
|
IGL02954:Kcng4
|
APN |
8 |
120,359,792 (GRCm39) |
missense |
probably benign |
|
|
IGL03143:Kcng4
|
APN |
8 |
120,352,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Kcng4
|
UTSW |
8 |
120,360,258 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Kcng4
|
UTSW |
8 |
120,360,258 (GRCm39) |
nonsense |
probably null |
|
|
FR4737:Kcng4
|
UTSW |
8 |
120,360,258 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Kcng4
|
UTSW |
8 |
120,360,258 (GRCm39) |
nonsense |
probably null |
|
|
LCD18:Kcng4
|
UTSW |
8 |
120,360,258 (GRCm39) |
nonsense |
probably null |
|
|
R0017:Kcng4
|
UTSW |
8 |
120,360,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Kcng4
|
UTSW |
8 |
120,360,226 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1852:Kcng4
|
UTSW |
8 |
120,352,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1967:Kcng4
|
UTSW |
8 |
120,359,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Kcng4
|
UTSW |
8 |
120,359,986 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4009:Kcng4
|
UTSW |
8 |
120,352,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Kcng4
|
UTSW |
8 |
120,352,617 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5792:Kcng4
|
UTSW |
8 |
120,353,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Kcng4
|
UTSW |
8 |
120,353,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Kcng4
|
UTSW |
8 |
120,359,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Kcng4
|
UTSW |
8 |
120,360,359 (GRCm39) |
nonsense |
probably null |
|
|
R7847:Kcng4
|
UTSW |
8 |
120,352,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Kcng4
|
UTSW |
8 |
120,352,970 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8947:Kcng4
|
UTSW |
8 |
120,352,452 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9517:Kcng4
|
UTSW |
8 |
120,353,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Kcng4
|
UTSW |
8 |
120,360,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAAGTGTATCTGGGCTGC -3'
(R):5'- TGCTTCTGCGAGAGATGTGC -3'
Sequencing Primer
(F):5'- GGTCCCTCATCGGCATCAAC -3'
(R):5'- AGAGATGTGCGCCCTGTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation