Incidental Mutation 'IGL01147:Kcnj11'
| ID |
51669 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnj11
|
| Ensembl Gene |
ENSMUSG00000096146 |
| Gene Name |
potassium inwardly rectifying channel, subfamily J, member 11 |
| Synonyms |
Kir6.2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01147
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45746545-45750215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45748193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 377
(K377E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180081]
[ENSMUST00000209291]
[ENSMUST00000209881]
[ENSMUST00000211674]
|
| AlphaFold |
Q61743 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180081
|
| SMART Domains |
Protein: ENSMUSP00000136002
Gene: ENSMUSG00000096146
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
36 |
360 |
4.9e-138 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211674
AA Change: K377E
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,234,611 (GRCm39) |
|
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Cdh1 |
C |
A |
8: 107,387,516 (GRCm39) |
T472K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
| Cfp |
G |
A |
X: 20,794,981 (GRCm39) |
R155C |
probably damaging |
Het |
| Chst7 |
T |
C |
X: 19,926,991 (GRCm39) |
I346T |
probably damaging |
Het |
| Crybg2 |
G |
A |
4: 133,816,575 (GRCm39) |
|
probably null |
Het |
| Ctsc |
T |
A |
7: 87,951,479 (GRCm39) |
V242D |
possibly damaging |
Het |
| Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,921,815 (GRCm39) |
D80G |
possibly damaging |
Het |
| Enpp3 |
G |
T |
10: 24,650,805 (GRCm39) |
T777K |
probably damaging |
Het |
| H2-M1 |
T |
A |
17: 36,982,199 (GRCm39) |
H134L |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,452,793 (GRCm39) |
S2105P |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,806,697 (GRCm39) |
S2388P |
probably benign |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,922 (GRCm39) |
|
probably benign |
Het |
| Il1rapl2 |
C |
T |
X: 137,121,325 (GRCm39) |
|
probably benign |
Het |
| Itpka |
T |
C |
2: 119,573,254 (GRCm39) |
L132P |
probably benign |
Het |
| Jak3 |
T |
C |
8: 72,136,047 (GRCm39) |
S616P |
probably benign |
Het |
| Map4k3 |
A |
T |
17: 80,944,147 (GRCm39) |
|
probably null |
Het |
| Parp1 |
T |
C |
1: 180,417,145 (GRCm39) |
I643T |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,843,250 (GRCm39) |
D1903G |
probably damaging |
Het |
| Picalm |
G |
T |
7: 89,826,800 (GRCm39) |
S416I |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,534,770 (GRCm39) |
N285S |
probably benign |
Het |
| Sh3gl2 |
A |
C |
4: 85,265,433 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
C |
A |
7: 105,204,943 (GRCm39) |
T274K |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,680,611 (GRCm39) |
T424M |
probably benign |
Het |
| Sox13 |
T |
A |
1: 133,320,873 (GRCm39) |
T46S |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,002,691 (GRCm39) |
Q8075* |
probably null |
Het |
| Trio |
T |
C |
15: 27,881,406 (GRCm39) |
E555G |
probably damaging |
Het |
| Upf3b |
T |
C |
X: 36,360,586 (GRCm39) |
E298G |
probably damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,490,204 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,626 (GRCm39) |
L74H |
probably damaging |
Het |
| Vwa2 |
T |
C |
19: 56,890,066 (GRCm39) |
S224P |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,632,808 (GRCm39) |
V36E |
probably damaging |
Het |
| Zfp367 |
A |
G |
13: 64,283,253 (GRCm39) |
S300P |
probably damaging |
Het |
|
| Other mutations in Kcnj11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01767:Kcnj11
|
APN |
7 |
45,748,489 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01950:Kcnj11
|
APN |
7 |
45,748,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02388:Kcnj11
|
APN |
7 |
45,749,213 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0019:Kcnj11
|
UTSW |
7 |
45,748,363 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0710:Kcnj11
|
UTSW |
7 |
45,748,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1216:Kcnj11
|
UTSW |
7 |
45,749,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1819:Kcnj11
|
UTSW |
7 |
45,748,580 (GRCm39) |
missense |
probably benign |
|
|
R2155:Kcnj11
|
UTSW |
7 |
45,748,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Kcnj11
|
UTSW |
7 |
45,748,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3498:Kcnj11
|
UTSW |
7 |
45,749,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4128:Kcnj11
|
UTSW |
7 |
45,749,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Kcnj11
|
UTSW |
7 |
45,749,240 (GRCm39) |
missense |
probably benign |
|
|
R4926:Kcnj11
|
UTSW |
7 |
45,748,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5680:Kcnj11
|
UTSW |
7 |
45,748,232 (GRCm39) |
missense |
probably benign |
|
|
R5708:Kcnj11
|
UTSW |
7 |
45,749,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7487:Kcnj11
|
UTSW |
7 |
45,748,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7788:Kcnj11
|
UTSW |
7 |
45,749,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7816:Kcnj11
|
UTSW |
7 |
45,749,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Kcnj11
|
UTSW |
7 |
45,748,176 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2013-06-21 |
Incidental Mutation