Incidental Mutation 'R3419:Kcnj13'
| ID |
266939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj13
|
| Ensembl Gene |
ENSMUSG00000079436 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 13 |
| Synonyms |
|
| MMRRC Submission |
040637-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87314085-87322451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87314641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 194
(T194A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027475]
[ENSMUST00000113212]
[ENSMUST00000164992]
[ENSMUST00000172794]
[ENSMUST00000172964]
[ENSMUST00000173173]
[ENSMUST00000174334]
[ENSMUST00000174179]
[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: T194A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108838
Gene: ENSMUSG00000079436
AA Change: T194A
| 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: ENSMUST00000174179
|
| SMART Domains |
Protein: ENSMUSP00000133524
Gene: ENSMUSG00000079436
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
21 |
80 |
1.7e-16 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.6425 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,512,068 (GRCm39) |
L518P |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,993,684 (GRCm39) |
K181E |
probably benign |
Het |
| Bend3 |
T |
C |
10: 43,385,978 (GRCm39) |
S124P |
probably damaging |
Het |
| Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
| Dmbx1 |
G |
C |
4: 115,777,873 (GRCm39) |
R64G |
probably benign |
Het |
| Dpy19l2 |
T |
C |
9: 24,492,501 (GRCm39) |
E699G |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,188,597 (GRCm39) |
V666I |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,485,093 (GRCm39) |
M320K |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,260,735 (GRCm39) |
N377K |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,927,867 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
| Gm17093 |
A |
G |
14: 44,759,047 (GRCm39) |
I190V |
unknown |
Het |
| Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,013,440 (GRCm39) |
S401P |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,522,921 (GRCm39) |
K200E |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lacc1 |
T |
G |
14: 77,272,321 (GRCm39) |
E158D |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
| Mapk6 |
T |
C |
9: 75,305,039 (GRCm39) |
E126G |
probably damaging |
Het |
| Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
| Or2h1b |
A |
T |
17: 37,462,242 (GRCm39) |
V53E |
probably damaging |
Het |
| Or52e15 |
A |
G |
7: 104,645,727 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,372 (GRCm39) |
C155Y |
probably benign |
Het |
| P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,247,559 (GRCm39) |
L183P |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
| Pik3r1 |
T |
C |
13: 101,828,723 (GRCm39) |
D25G |
probably benign |
Het |
| Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
| Polr3a |
A |
G |
14: 24,517,103 (GRCm39) |
L716P |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,413 (GRCm39) |
D500E |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
| Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
| Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
| Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
| Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
| Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,405,335 (GRCm39) |
D248N |
possibly damaging |
Het |
| St6galnac4 |
A |
G |
2: 32,485,743 (GRCm39) |
T217A |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
| Tmem30c |
A |
G |
16: 57,098,031 (GRCm39) |
V130A |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
| Tulp2 |
T |
A |
7: 45,168,176 (GRCm39) |
M196K |
possibly damaging |
Het |
| Unc5b |
G |
A |
10: 60,614,593 (GRCm39) |
R235W |
probably damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,075 (GRCm39) |
M184K |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
probably benign |
Het |
| Vmn2r9 |
A |
C |
5: 108,994,299 (GRCm39) |
M450R |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGTTGGAGCAGGGTAGC -3'
(R):5'- AACCACGCTCAGTTCTTGAAC -3'
Sequencing Primer
(F):5'- CAGGGTAGCTAGAGGACTTGATG -3'
(R):5'- ACGCTCAGTTCTTGAACTTTTGTAAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation