Incidental Mutation 'IGL02747:Kcnj13'
| ID |
306079 |
| 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 # |
IGL02747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87314085-87322451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87317087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 9
(N9D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027475]
[ENSMUST00000113212]
[ENSMUST00000164992]
[ENSMUST00000172794]
[ENSMUST00000172964]
[ENSMUST00000173173]
[ENSMUST00000174179]
[ENSMUST00000174334]
[ENSMUST00000174501]
|
| 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: N9D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000108838
Gene: ENSMUSG00000079436
AA Change: N9D
| 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 |
probably benign
Transcript: ENSMUST00000174179
AA Change: N9D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000133524
Gene: ENSMUSG00000079436
AA Change: N9D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
21 |
80 |
1.7e-16 |
PFAM |
|
| 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 |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,282 (GRCm39) |
L3373* |
probably null |
Het |
| Ap1s3 |
T |
C |
1: 79,601,409 (GRCm39) |
Y94C |
probably damaging |
Het |
| Dbx2 |
T |
C |
15: 95,530,320 (GRCm39) |
T216A |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,579,995 (GRCm39) |
R67G |
probably damaging |
Het |
| Eng |
G |
A |
2: 32,562,970 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,861,875 (GRCm39) |
I206N |
probably damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,765,720 (GRCm39) |
M276I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,102,756 (GRCm39) |
S793P |
probably benign |
Het |
| Kics2 |
A |
C |
10: 121,581,455 (GRCm39) |
Q152P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,819 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,423,565 (GRCm39) |
K985E |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,552,668 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,380 (GRCm39) |
Y133C |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,361,583 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,312,136 (GRCm39) |
K301E |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,438,122 (GRCm39) |
|
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,970,238 (GRCm39) |
D126E |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,999,348 (GRCm39) |
S712P |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,161 (GRCm39) |
I264N |
probably damaging |
Het |
| Rpap1 |
A |
G |
2: 119,604,609 (GRCm39) |
I433T |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,670,563 (GRCm39) |
N3478H |
probably damaging |
Het |
| Sox30 |
A |
G |
11: 45,871,772 (GRCm39) |
D209G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,088,981 (GRCm39) |
F628S |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,944,917 (GRCm39) |
G768D |
possibly damaging |
Het |
| Tesk2 |
T |
C |
4: 116,660,076 (GRCm39) |
V398A |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,272,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,719 (GRCm39) |
H357Y |
probably benign |
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 |
|
IGL01108:Kcnj13
|
APN |
1 |
87,314,659 (GRCm39) |
missense |
probably benign |
|
|
IGL01420:Kcnj13
|
APN |
1 |
87,316,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation