Incidental Mutation 'IGL01108:Kcnj13'
| ID |
50283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnj13
|
| Ensembl Gene |
ENSMUSG00000079436 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 13 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87314085-87322451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87314659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 188
(I188V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027475]
[ENSMUST00000113212]
[ENSMUST00000164992]
[ENSMUST00000172794]
[ENSMUST00000172964]
[ENSMUST00000173173]
[ENSMUST00000174334]
[ENSMUST00000174501]
[ENSMUST00000174179]
|
| AlphaFold |
P86046 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027475
|
| SMART Domains |
Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
384 |
2.48e-5 |
PROSPERO |
|
internal_repeat_1
|
404 |
440 |
2.48e-5 |
PROSPERO |
|
GYF
|
535 |
590 |
2.83e-26 |
SMART |
|
low complexity region
|
620 |
667 |
N/A |
INTRINSIC |
|
coiled coil region
|
723 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1110 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1130 |
N/A |
INTRINSIC |
|
coiled coil region
|
1194 |
1223 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1246 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113212
AA Change: I188V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108838
Gene: ENSMUSG00000079436
AA Change: I188V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
21 |
345 |
3.5e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164992
|
| SMART Domains |
Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
GYF
|
478 |
533 |
2.83e-26 |
SMART |
|
low complexity region
|
563 |
610 |
N/A |
INTRINSIC |
|
coiled coil region
|
666 |
721 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172794
|
| SMART Domains |
Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
338 |
378 |
2.29e-5 |
PROSPERO |
|
internal_repeat_1
|
398 |
434 |
2.29e-5 |
PROSPERO |
|
GYF
|
529 |
584 |
2.83e-26 |
SMART |
|
low complexity region
|
614 |
661 |
N/A |
INTRINSIC |
|
coiled coil region
|
717 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1090 |
1104 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1124 |
N/A |
INTRINSIC |
|
coiled coil region
|
1188 |
1217 |
N/A |
INTRINSIC |
|
low complexity region
|
1230 |
1240 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172964
|
| SMART Domains |
Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
384 |
3.03e-5 |
PROSPERO |
|
internal_repeat_1
|
404 |
440 |
3.03e-5 |
PROSPERO |
|
GYF
|
535 |
590 |
2.83e-26 |
SMART |
|
low complexity region
|
620 |
667 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
724 |
859 |
1e-2 |
SMART |
|
low complexity region
|
953 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1031 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173173
|
| SMART Domains |
Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
GYF
|
528 |
583 |
2.83e-26 |
SMART |
|
low complexity region
|
613 |
660 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
717 |
852 |
1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174334
|
| SMART Domains |
Protein: ENSMUSP00000133666
Gene: ENSMUSG00000048000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174501
|
| SMART Domains |
Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
384 |
2.48e-5 |
PROSPERO |
|
internal_repeat_1
|
404 |
440 |
2.48e-5 |
PROSPERO |
|
GYF
|
535 |
590 |
2.83e-26 |
SMART |
|
low complexity region
|
620 |
667 |
N/A |
INTRINSIC |
|
coiled coil region
|
723 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1110 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1130 |
N/A |
INTRINSIC |
|
coiled coil region
|
1194 |
1223 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1246 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174179
|
| SMART Domains |
Protein: ENSMUSP00000133524
Gene: ENSMUSG00000079436
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
21 |
80 |
1.7e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mutant null mice die shortly after birth, exhibit cleft palate and pulmonary abnormalities in embryonic lungs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah2 |
A |
G |
19: 31,986,081 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,516 (GRCm39) |
I856T |
probably benign |
Het |
| Cblb |
T |
A |
16: 51,867,814 (GRCm39) |
|
probably null |
Het |
| Cpq |
A |
G |
15: 33,497,433 (GRCm39) |
Q391R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,740,806 (GRCm39) |
T4127S |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,176,771 (GRCm39) |
S63P |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,397,638 (GRCm39) |
V623A |
probably damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,792,606 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
A |
2: 70,508,922 (GRCm39) |
S133R |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,461,922 (GRCm39) |
A307T |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,132,487 (GRCm39) |
K186R |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,664,903 (GRCm39) |
E596G |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,257,754 (GRCm39) |
M492K |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,835,563 (GRCm39) |
T545A |
probably damaging |
Het |
| Mgrn1 |
G |
T |
16: 4,734,019 (GRCm39) |
|
probably null |
Het |
| Mideas |
T |
C |
12: 84,220,465 (GRCm39) |
E163G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,259,339 (GRCm39) |
V529A |
probably benign |
Het |
| Or13f5 |
C |
T |
4: 52,825,727 (GRCm39) |
T110I |
probably damaging |
Het |
| Parp4 |
T |
G |
14: 56,844,897 (GRCm39) |
I596S |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,703,355 (GRCm39) |
D43V |
probably damaging |
Het |
| Prss51 |
A |
T |
14: 64,333,433 (GRCm39) |
K14I |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,874,278 (GRCm39) |
C133R |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,788,007 (GRCm39) |
N437K |
probably benign |
Het |
| Samd10 |
A |
G |
2: 181,239,007 (GRCm39) |
Y135H |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
| Serpina7 |
C |
T |
X: 137,983,886 (GRCm39) |
V58I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,273,594 (GRCm39) |
|
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Urb1 |
C |
T |
16: 90,589,702 (GRCm39) |
A360T |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,595,022 (GRCm39) |
R3818L |
probably benign |
Het |
| Vmn2r57 |
C |
T |
7: 41,077,008 (GRCm39) |
R386K |
probably benign |
Het |
| Wnt3a |
T |
C |
11: 59,147,135 (GRCm39) |
N184D |
probably benign |
Het |
| Xpc |
G |
A |
6: 91,469,987 (GRCm39) |
R746W |
probably damaging |
Het |
|
| Other mutations in Kcnj13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Kcnj13
|
APN |
1 |
87,314,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01420:Kcnj13
|
APN |
1 |
87,316,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02747:Kcnj13
|
APN |
1 |
87,317,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02937:Kcnj13
|
APN |
1 |
87,314,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Kcnj13
|
UTSW |
1 |
87,314,568 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0486:Kcnj13
|
UTSW |
1 |
87,314,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:Kcnj13
|
UTSW |
1 |
87,316,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Kcnj13
|
UTSW |
1 |
87,314,256 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2392:Kcnj13
|
UTSW |
1 |
87,314,622 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3418:Kcnj13
|
UTSW |
1 |
87,314,641 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3419:Kcnj13
|
UTSW |
1 |
87,314,641 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5773:Kcnj13
|
UTSW |
1 |
87,314,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6215:Kcnj13
|
UTSW |
1 |
87,314,256 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6284:Kcnj13
|
UTSW |
1 |
87,314,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6773:Kcnj13
|
UTSW |
1 |
87,314,482 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6830:Kcnj13
|
UTSW |
1 |
87,314,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Kcnj13
|
UTSW |
1 |
87,316,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Kcnj13
|
UTSW |
1 |
87,314,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Kcnj13
|
UTSW |
1 |
87,316,849 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9725:Kcnj13
|
UTSW |
1 |
87,314,737 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation