Incidental Mutation 'R3498:Kcnj11'
ID |
273660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnj11
|
Ensembl Gene |
ENSMUSG00000096146 |
Gene Name |
potassium inwardly rectifying channel, subfamily J, member 11 |
Synonyms |
Kir6.2 |
MMRRC Submission |
040661-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3498 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45746545-45750215 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45749026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 23
(D23G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147801
(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 |
possibly damaging
Transcript: ENSMUST00000180081
AA Change: D12G
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136002 Gene: ENSMUSG00000096146 AA Change: D12G
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 damaging
Transcript: ENSMUST00000209291
AA Change: D23G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209863
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209881
AA Change: D42G
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211674
AA Change: D99G
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210637
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210770
|
Meta Mutation Damage Score |
0.9630 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (43/43) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
Lats2 |
G |
T |
14: 57,959,923 (GRCm39) |
A191E |
possibly damaging |
Het |
Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,102,764 (GRCm39) |
M253K |
probably damaging |
Het |
Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
Slc22a4 |
T |
G |
11: 53,882,879 (GRCm39) |
K328N |
probably benign |
Het |
Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,930,266 (GRCm39) |
W222R |
probably damaging |
Het |
Slc7a2 |
A |
G |
8: 41,365,567 (GRCm39) |
E466G |
probably benign |
Het |
Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGAAGATGCAGCCCAG -3'
(R):5'- TTCGTGTCCAAGAAAGGCAAC -3'
Sequencing Primer
(F):5'- CATGATGGCGTTGATCATCAGCC -3'
(R):5'- GCAACTGCAACGTCGCC -3'
|
Posted On |
2015-04-02 |