Incidental Mutation 'R5816:Kcng1'
| ID |
449032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcng1
|
| Ensembl Gene |
ENSMUSG00000074575 |
| Gene Name |
potassium voltage-gated channel, subfamily G, member 1 |
| Synonyms |
OTTMUSG00000016048 |
| MMRRC Submission |
043214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R5816 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
168102037-168123453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 168110643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 174
(E174K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099069]
[ENSMUST00000109191]
[ENSMUST00000131749]
|
| AlphaFold |
A2BDX4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099069
AA Change: E174K
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096668
Gene: ENSMUSG00000074575
AA Change: E174K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
63 |
172 |
4.22e-5 |
SMART |
|
low complexity region
|
174 |
197 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
226 |
470 |
8.6e-41 |
PFAM |
|
Pfam:Ion_trans_2
|
379 |
465 |
7.6e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109191
AA Change: E174K
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104815
Gene: ENSMUSG00000074575
AA Change: E174K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
63 |
172 |
4.22e-5 |
SMART |
|
low complexity region
|
174 |
197 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
270 |
459 |
1.9e-31 |
PFAM |
|
Pfam:Ion_trans_2
|
379 |
465 |
1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131749
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| 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 gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,234,563 (GRCm39) |
D1501G |
probably damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,749,143 (GRCm39) |
E87K |
probably damaging |
Het |
| Bend7 |
A |
G |
2: 4,757,710 (GRCm39) |
R251G |
probably benign |
Het |
| Cep72 |
A |
T |
13: 74,197,150 (GRCm39) |
S402T |
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,801,120 (GRCm39) |
V181A |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,799,890 (GRCm39) |
N162S |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,336 (GRCm39) |
N296S |
probably benign |
Het |
| Cyria |
A |
G |
12: 12,408,166 (GRCm39) |
D64G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,218,315 (GRCm39) |
A1585V |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,146,892 (GRCm39) |
P339L |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,401 (GRCm39) |
I568T |
probably benign |
Het |
| Eif5a |
C |
T |
11: 69,808,499 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Foxj2 |
G |
A |
6: 122,810,695 (GRCm39) |
S225N |
probably benign |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
T |
C |
17: 73,881,877 (GRCm39) |
Y74C |
probably damaging |
Het |
| Glrb |
T |
A |
3: 80,769,286 (GRCm39) |
N147I |
probably damaging |
Het |
| Grb14 |
A |
T |
2: 64,747,628 (GRCm39) |
M377K |
probably damaging |
Het |
| Kdm3b |
A |
C |
18: 34,961,522 (GRCm39) |
E1433A |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 9,020,571 (GRCm39) |
R481H |
probably damaging |
Het |
| Mcm6 |
A |
G |
1: 128,276,192 (GRCm39) |
V331A |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,701,956 (GRCm39) |
Y415C |
probably damaging |
Het |
| Med11 |
T |
C |
11: 70,343,111 (GRCm39) |
S65P |
probably damaging |
Het |
| Metrnl |
T |
A |
11: 121,598,938 (GRCm39) |
S166T |
probably benign |
Het |
| Mllt6 |
A |
G |
11: 97,563,400 (GRCm39) |
K328E |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,586,752 (GRCm39) |
K353R |
probably benign |
Het |
| Or52ab4 |
A |
G |
7: 102,988,202 (GRCm39) |
T314A |
probably benign |
Het |
| Or8g52 |
T |
A |
9: 39,630,526 (GRCm39) |
M1K |
probably null |
Het |
| Pfkl |
A |
T |
10: 77,837,856 (GRCm39) |
N46K |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,944,586 (GRCm39) |
E428G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,902 (GRCm39) |
S3934G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,429,718 (GRCm39) |
D3312G |
probably benign |
Het |
| Prmt8 |
G |
A |
6: 127,674,701 (GRCm39) |
T309I |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,413,162 (GRCm39) |
V742E |
possibly damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,157 (GRCm39) |
H56R |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,227,988 (GRCm39) |
S406T |
unknown |
Het |
| Slc26a4 |
G |
T |
12: 31,578,684 (GRCm39) |
H656Q |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 110,026,712 (GRCm39) |
V724A |
possibly damaging |
Het |
| Thbs2 |
C |
T |
17: 14,904,333 (GRCm39) |
|
probably null |
Het |
| Zbtb6 |
A |
T |
2: 37,319,227 (GRCm39) |
F234I |
probably benign |
Het |
| Zfp536 |
C |
T |
7: 37,180,053 (GRCm39) |
D851N |
probably damaging |
Het |
|
| Other mutations in Kcng1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Kcng1
|
APN |
2 |
168,110,684 (GRCm39) |
missense |
probably benign |
|
|
IGL01316:Kcng1
|
APN |
2 |
168,110,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Kcng1
|
UTSW |
2 |
168,104,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0104:Kcng1
|
UTSW |
2 |
168,110,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0692:Kcng1
|
UTSW |
2 |
168,104,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Kcng1
|
UTSW |
2 |
168,110,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Kcng1
|
UTSW |
2 |
168,110,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Kcng1
|
UTSW |
2 |
168,110,630 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1731:Kcng1
|
UTSW |
2 |
168,110,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1937:Kcng1
|
UTSW |
2 |
168,104,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1960:Kcng1
|
UTSW |
2 |
168,104,904 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2145:Kcng1
|
UTSW |
2 |
168,110,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4167:Kcng1
|
UTSW |
2 |
168,104,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Kcng1
|
UTSW |
2 |
168,105,053 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6367:Kcng1
|
UTSW |
2 |
168,104,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Kcng1
|
UTSW |
2 |
168,104,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Kcng1
|
UTSW |
2 |
168,104,904 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7984:Kcng1
|
UTSW |
2 |
168,104,406 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8494:Kcng1
|
UTSW |
2 |
168,105,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8994:Kcng1
|
UTSW |
2 |
168,110,768 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9111:Kcng1
|
UTSW |
2 |
168,104,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Kcng1
|
UTSW |
2 |
168,111,105 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9507:Kcng1
|
UTSW |
2 |
168,111,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9562:Kcng1
|
UTSW |
2 |
168,104,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Kcng1
|
UTSW |
2 |
168,110,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTGACAGACAGGTTGAC -3'
(R):5'- GAGTTCTTCTTCGACCGCAAC -3'
Sequencing Primer
(F):5'- ACAGGTTGACGGCGGTGAC -3'
(R):5'- AACCCCGGAGCTTTTGGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation