Incidental Mutation 'IGL02388:Kcnj11'
ID |
291614 |
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 # |
IGL02388
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45746545-45750215 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45749213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 37
(S37P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033123]
[ENSMUST00000180081]
[ENSMUST00000209291]
[ENSMUST00000209881]
[ENSMUST00000211674]
|
AlphaFold |
Q61743 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033123
|
SMART Domains |
Protein: ENSMUSP00000033123 Gene: ENSMUSG00000040136
Domain | Start | End | E-Value | Type |
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
transmembrane domain
|
105 |
124 |
N/A |
INTRINSIC |
transmembrane domain
|
131 |
148 |
N/A |
INTRINSIC |
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
299 |
590 |
1.3e-39 |
PFAM |
AAA
|
705 |
920 |
4.46e-14 |
SMART |
low complexity region
|
972 |
994 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
1019 |
1301 |
1.3e-49 |
PFAM |
AAA
|
1377 |
1570 |
4.33e-12 |
SMART |
|
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 |
probably benign
Transcript: ENSMUST00000209432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209863
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209881
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211674
AA Change: S37P
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210637
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210655
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210770
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930597O21Rik |
A |
T |
6: 66,873,097 (GRCm39) |
|
probably benign |
Het |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Asphd1 |
A |
T |
7: 126,545,884 (GRCm39) |
|
probably benign |
Het |
Ccdc77 |
G |
A |
6: 120,308,858 (GRCm39) |
A301V |
probably benign |
Het |
Cep350 |
G |
T |
1: 155,829,499 (GRCm39) |
T135K |
probably benign |
Het |
Chrna7 |
A |
T |
7: 62,757,439 (GRCm39) |
D153E |
probably damaging |
Het |
Clec4b2 |
G |
T |
6: 123,179,187 (GRCm39) |
|
probably null |
Het |
Cyp2c67 |
T |
C |
19: 39,631,799 (GRCm39) |
N133D |
probably benign |
Het |
Dglucy |
T |
C |
12: 100,823,257 (GRCm39) |
I484T |
probably damaging |
Het |
Dtna |
G |
T |
18: 23,730,571 (GRCm39) |
M319I |
probably benign |
Het |
E2f5 |
T |
A |
3: 14,653,340 (GRCm39) |
M152K |
probably benign |
Het |
Emsy |
A |
T |
7: 98,290,873 (GRCm39) |
M58K |
probably damaging |
Het |
Epha1 |
A |
G |
6: 42,341,950 (GRCm39) |
Y367H |
probably damaging |
Het |
Etv1 |
A |
G |
12: 38,831,798 (GRCm39) |
S32G |
possibly damaging |
Het |
Fam114a1 |
A |
T |
5: 65,166,323 (GRCm39) |
|
probably benign |
Het |
Fbxo30 |
T |
A |
10: 11,166,122 (GRCm39) |
N281K |
probably benign |
Het |
Galnt12 |
G |
T |
4: 47,117,941 (GRCm39) |
R412L |
probably damaging |
Het |
Gm5786 |
T |
A |
12: 59,128,382 (GRCm39) |
|
noncoding transcript |
Het |
Gm9845 |
T |
C |
3: 39,412,616 (GRCm39) |
|
noncoding transcript |
Het |
Hecw2 |
A |
G |
1: 53,964,858 (GRCm39) |
V656A |
probably benign |
Het |
Hpse2 |
A |
T |
19: 43,282,692 (GRCm39) |
V187D |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,679,557 (GRCm39) |
M122K |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,037,807 (GRCm39) |
I1491T |
probably damaging |
Het |
Krt36 |
T |
A |
11: 99,995,990 (GRCm39) |
K145* |
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,456,833 (GRCm39) |
I499V |
probably benign |
Het |
Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
Mical2 |
C |
A |
7: 111,934,620 (GRCm39) |
H880N |
probably benign |
Het |
Myo1d |
A |
T |
11: 80,528,823 (GRCm39) |
C666* |
probably null |
Het |
Nlrx1 |
C |
T |
9: 44,175,302 (GRCm39) |
R158H |
probably benign |
Het |
Or10ag53 |
T |
A |
2: 87,082,295 (GRCm39) |
Y5N |
probably benign |
Het |
Or10q1 |
C |
A |
19: 13,726,994 (GRCm39) |
H175N |
possibly damaging |
Het |
Or13a17 |
A |
G |
7: 140,271,024 (GRCm39) |
T69A |
probably benign |
Het |
Or1e21 |
A |
T |
11: 73,344,106 (GRCm39) |
L311I |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,316 (GRCm39) |
S305G |
probably benign |
Het |
Pdgfrl |
A |
G |
8: 41,430,094 (GRCm39) |
R154G |
probably benign |
Het |
Pitpnb |
T |
C |
5: 111,478,699 (GRCm39) |
F7S |
possibly damaging |
Het |
Ppm1n |
G |
A |
7: 19,013,097 (GRCm39) |
R285C |
probably damaging |
Het |
Prdm11 |
A |
T |
2: 92,805,957 (GRCm39) |
I331N |
possibly damaging |
Het |
Ptprb |
C |
T |
10: 116,203,426 (GRCm39) |
P2066L |
probably damaging |
Het |
Ric8b |
T |
C |
10: 84,828,135 (GRCm39) |
|
probably benign |
Het |
Setx |
A |
G |
2: 29,063,665 (GRCm39) |
I2320M |
probably damaging |
Het |
Skil |
C |
A |
3: 31,165,787 (GRCm39) |
S368* |
probably null |
Het |
Slc1a5 |
G |
T |
7: 16,519,644 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
C |
2: 126,661,811 (GRCm39) |
V1079G |
possibly damaging |
Het |
Tulp1 |
A |
G |
17: 28,577,633 (GRCm39) |
F2L |
probably damaging |
Het |
Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
Zbtb17 |
A |
G |
4: 141,189,224 (GRCm39) |
Y48C |
probably damaging |
Het |
Zfp605 |
T |
A |
5: 110,275,506 (GRCm39) |
I208N |
possibly damaging |
Het |
|
Other mutations in Kcnj11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01147:Kcnj11
|
APN |
7 |
45,748,193 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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 |
2015-04-16 |