Incidental Mutation 'R1216:Kcnj11'
| ID |
99645 |
| 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 |
039285-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1216 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45746545-45750215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45749285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 13
(V13L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148249
(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
AA Change: V13L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211674
AA Change: V13L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210770
|
| Meta Mutation Damage Score |
0.0636 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,868,716 (GRCm39) |
D332V |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,326,322 (GRCm39) |
Y53C |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,383,498 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,710,276 (GRCm39) |
|
probably benign |
Het |
| B4galnt2 |
A |
G |
11: 95,782,767 (GRCm39) |
L15P |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,583,472 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dppa4 |
T |
C |
16: 48,113,343 (GRCm39) |
F244S |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,702,035 (GRCm39) |
K445R |
probably benign |
Het |
| Fam47e |
A |
G |
5: 92,710,343 (GRCm39) |
E114G |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 27,981,202 (GRCm39) |
N171K |
possibly damaging |
Het |
| Fyb2 |
G |
A |
4: 104,852,903 (GRCm39) |
V528M |
possibly damaging |
Het |
| Ghr |
A |
G |
15: 3,349,337 (GRCm39) |
S614P |
probably damaging |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,193,554 (GRCm39) |
V365D |
possibly damaging |
Het |
| Guca1a |
A |
G |
17: 47,706,637 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,310,997 (GRCm39) |
G1079D |
probably benign |
Het |
| Hnrnpm |
T |
C |
17: 33,868,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,945,147 (GRCm39) |
D394E |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,672,108 (GRCm39) |
Y339* |
probably null |
Het |
| Lama3 |
C |
T |
18: 12,554,191 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
G |
13: 113,050,876 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,709,473 (GRCm39) |
T161A |
probably benign |
Het |
| Ncapg |
G |
T |
5: 45,857,261 (GRCm39) |
S991I |
possibly damaging |
Het |
| Nrde2 |
G |
A |
12: 100,116,069 (GRCm39) |
|
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,822 (GRCm39) |
I24N |
probably benign |
Het |
| Or5d18 |
T |
C |
2: 87,864,602 (GRCm39) |
R294G |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,927 (GRCm39) |
T688S |
probably damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,190,635 (GRCm39) |
D309G |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,005,584 (GRCm39) |
V404D |
probably damaging |
Het |
| Ppp2r2a |
G |
T |
14: 67,266,447 (GRCm39) |
Y71* |
probably null |
Het |
| Prcp |
A |
G |
7: 92,566,954 (GRCm39) |
N222S |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,833,532 (GRCm39) |
T316A |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,319,034 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
C |
A |
2: 72,038,492 (GRCm39) |
P548T |
possibly damaging |
Het |
| Ric1 |
G |
T |
19: 29,555,135 (GRCm39) |
M416I |
probably benign |
Het |
| Slc9a8 |
T |
C |
2: 167,266,041 (GRCm39) |
F6S |
probably benign |
Het |
| Smpdl3a |
T |
G |
10: 57,678,575 (GRCm39) |
I126S |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,268,698 (GRCm39) |
L98Q |
probably damaging |
Het |
| Spink4 |
T |
G |
4: 40,924,974 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
A |
T |
10: 23,847,605 (GRCm39) |
L334F |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,289,203 (GRCm39) |
I454K |
probably benign |
Het |
| Ttc7 |
C |
T |
17: 87,654,006 (GRCm39) |
T561M |
possibly damaging |
Het |
| Vmn2r9 |
G |
T |
5: 108,995,440 (GRCm39) |
H403N |
probably damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,161 (GRCm39) |
C180Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGCCCGACGATATTCTGCAC -3'
(R):5'- TGGTACAAGCTTAGGGTAACCTGAGG -3'
Sequencing Primer
(F):5'- CGACGATATTCTGCACAATGAG -3'
(R):5'- CTTAGGGTAACCTGAGGAGAGG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation