Incidental Mutation 'R6215:Kcnj13'
| ID |
503641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj13
|
| Ensembl Gene |
ENSMUSG00000079436 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 13 |
| Synonyms |
|
| MMRRC Submission |
044348-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87314085-87322451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87314256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 322
(V322A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027475]
[ENSMUST00000113212]
[ENSMUST00000164992]
[ENSMUST00000172794]
[ENSMUST00000172964]
[ENSMUST00000173173]
[ENSMUST00000174501]
[ENSMUST00000174334]
[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: V322A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108838
Gene: ENSMUSG00000079436
AA Change: V322A
| 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: 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: 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: ENSMUST00000174179
|
| SMART Domains |
Protein: ENSMUSP00000133524
Gene: ENSMUSG00000079436
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
21 |
80 |
1.7e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.1354 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (42/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
| Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
| Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
| Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
| Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
| Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
| Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
| Osgin1 |
G |
A |
8: 120,172,183 (GRCm39) |
V326I |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
| Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
| Sh3glb2 |
T |
C |
2: 30,235,805 (GRCm39) |
E313G |
possibly damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
| Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGCATAGACATCATTACTATG -3'
(R):5'- AGCTACCCTGCTCCAACATG -3'
Sequencing Primer
(F):5'- TGATATAATCAGCACTGAGAACAAGG -3'
(R):5'- GAGACTCCTCCACACTTTGAATTAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation