Incidental Mutation 'R5455:Kcnn4'
| ID |
432713 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R5455 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24069750-24084635 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24076978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 176
(S176P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171904]
[ENSMUST00000205428]
[ENSMUST00000205626]
|
| AlphaFold |
O89109 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171904
AA Change: S176P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133065
Gene: ENSMUSG00000054342
AA Change: S176P
| 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 damaging
Transcript: ENSMUST00000205428
AA Change: S176P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205881
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
| Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,536,516 (GRCm38) |
|
probably null |
Het |
| Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
| Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,400,262 (GRCm39) |
S705P |
possibly damaging |
Het |
| Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
| Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
| Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,803,669 (GRCm39) |
R265G |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,818 (GRCm39) |
F61S |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
| Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
| Pdia2 |
T |
G |
17: 26,416,137 (GRCm39) |
Q310P |
probably null |
Het |
| Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
| Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
| Vstm4 |
A |
G |
14: 32,585,835 (GRCm39) |
H134R |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
| Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
| Zpbp2 |
G |
T |
11: 98,448,429 (GRCm39) |
V249L |
probably benign |
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 |
|
R4300:Kcnn4
|
UTSW |
7 |
24,077,029 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4402:Kcnn4
|
UTSW |
7 |
24,076,867 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- TCATGACTGACAACGGGCTC -3'
(R):5'- CCATCATATCCAGTAGCCTCTG -3'
Sequencing Primer
(F):5'- AGGTGGCGCAGATCCTG -3'
(R):5'- AGTAGCCTCTGGTGTCTCC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation