Incidental Mutation 'R4300:Kcnn4'
| ID |
322372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnn4
|
| Ensembl Gene |
ENSMUSG00000054342 |
| Gene Name |
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 |
| Synonyms |
mIKCa1, IKCa1, KCa3.1, SK4, IK1 |
| MMRRC Submission |
041657-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R4300 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24069750-24084635 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24077029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 193
(V193L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171904]
[ENSMUST00000205428]
[ENSMUST00000205626]
|
| AlphaFold |
O89109 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171904
AA Change: V193L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133065
Gene: ENSMUSG00000054342
AA Change: V193L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SK_channel
|
11 |
124 |
1.7e-41 |
PFAM |
|
low complexity region
|
143 |
160 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
209 |
289 |
2.6e-16 |
PFAM |
|
CaMBD
|
302 |
375 |
1.85e-32 |
SMART |
|
low complexity region
|
411 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205428
AA Change: V193L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205881
|
| Meta Mutation Damage Score |
0.2125 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice have increased parotid gland weight and both sexes have impaired volume regulation in erythrocytes and T lymphocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,675 (GRCm39) |
R78* |
probably null |
Het |
| A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
| Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
| Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
| Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,009,082 (GRCm39) |
N463D |
probably benign |
Het |
| Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
C |
9: 39,934,435 (GRCm39) |
I249L |
probably benign |
Het |
| Or5h24 |
T |
C |
16: 58,918,641 (GRCm39) |
Y238C |
unknown |
Het |
| Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psph |
G |
T |
5: 129,864,529 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
| Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,707,600 (GRCm39) |
P130T |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
Het |
|
| Other mutations in Kcnn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Kcnn4
|
APN |
7 |
24,081,128 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02958:Kcnn4
|
APN |
7 |
24,074,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
ivanhoe
|
UTSW |
7 |
24,074,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
longbow
|
UTSW |
7 |
24,078,680 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0009:Kcnn4
|
UTSW |
7 |
24,078,680 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1706:Kcnn4
|
UTSW |
7 |
24,074,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Kcnn4
|
UTSW |
7 |
24,076,867 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5455:Kcnn4
|
UTSW |
7 |
24,076,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5811:Kcnn4
|
UTSW |
7 |
24,077,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6319:Kcnn4
|
UTSW |
7 |
24,081,165 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8098:Kcnn4
|
UTSW |
7 |
24,083,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8322:Kcnn4
|
UTSW |
7 |
24,083,545 (GRCm39) |
missense |
probably benign |
|
|
R8376:Kcnn4
|
UTSW |
7 |
24,077,051 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8871:Kcnn4
|
UTSW |
7 |
24,083,500 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9063:Kcnn4
|
UTSW |
7 |
24,076,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9519:Kcnn4
|
UTSW |
7 |
24,081,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Kcnn4
|
UTSW |
7 |
24,083,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGACTGACAACGGGC -3'
(R):5'- GATGGAAAGTGTGAGCCTGC -3'
Sequencing Primer
(F):5'- AGGTGGCGCAGATCCTG -3'
(R):5'- AAGTGTGAGCCTGCCCTGATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation