Incidental Mutation 'IGL01786:Kctd19'
ID |
155078 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kctd19
|
Ensembl Gene |
ENSMUSG00000051648 |
Gene Name |
potassium channel tetramerisation domain containing 19 |
Synonyms |
4922504H04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL01786
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106109439-106140134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106116936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 398
(T398A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063071]
[ENSMUST00000167294]
[ENSMUST00000168196]
[ENSMUST00000168888]
|
AlphaFold |
Q562E2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063071
AA Change: T398A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000050687 Gene: ENSMUSG00000051648 AA Change: T398A
Domain | Start | End | E-Value | Type |
Pfam:BTB_2
|
15 |
92 |
1.3e-9 |
PFAM |
internal_repeat_1
|
173 |
251 |
8.34e-9 |
PROSPERO |
internal_repeat_1
|
429 |
509 |
8.34e-9 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167294
AA Change: T375A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000130831 Gene: ENSMUSG00000051648 AA Change: T375A
Domain | Start | End | E-Value | Type |
Pfam:BTB_2
|
15 |
93 |
3.9e-10 |
PFAM |
internal_repeat_1
|
173 |
251 |
6.24e-9 |
PROSPERO |
internal_repeat_1
|
406 |
486 |
6.24e-9 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168196
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168888
|
SMART Domains |
Protein: ENSMUSP00000131732 Gene: ENSMUSG00000051648
Domain | Start | End | E-Value | Type |
Pfam:BTB_2
|
15 |
95 |
4.3e-12 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
Klra8 |
T |
A |
6: 130,096,031 (GRCm39) |
|
probably null |
Het |
Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
Phc1 |
T |
C |
6: 122,296,479 (GRCm39) |
D847G |
possibly damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,179,881 (GRCm39) |
F110L |
probably damaging |
Het |
Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
Rnf32 |
T |
C |
5: 29,411,812 (GRCm39) |
|
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
Het |
|
Other mutations in Kctd19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Kctd19
|
APN |
8 |
106,115,095 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01546:Kctd19
|
APN |
8 |
106,113,594 (GRCm39) |
missense |
probably benign |
|
IGL01964:Kctd19
|
APN |
8 |
106,115,157 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02275:Kctd19
|
APN |
8 |
106,123,006 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02479:Kctd19
|
APN |
8 |
106,111,400 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03124:Kctd19
|
APN |
8 |
106,113,702 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0003:Kctd19
|
UTSW |
8 |
106,121,993 (GRCm39) |
missense |
probably damaging |
0.99 |
R1183:Kctd19
|
UTSW |
8 |
106,109,598 (GRCm39) |
missense |
probably benign |
|
R1388:Kctd19
|
UTSW |
8 |
106,118,683 (GRCm39) |
missense |
probably null |
0.93 |
R1491:Kctd19
|
UTSW |
8 |
106,113,694 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1517:Kctd19
|
UTSW |
8 |
106,122,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R1540:Kctd19
|
UTSW |
8 |
106,114,511 (GRCm39) |
missense |
probably damaging |
0.96 |
R1582:Kctd19
|
UTSW |
8 |
106,122,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:Kctd19
|
UTSW |
8 |
106,115,102 (GRCm39) |
missense |
probably damaging |
0.98 |
R1996:Kctd19
|
UTSW |
8 |
106,121,932 (GRCm39) |
missense |
probably null |
1.00 |
R2129:Kctd19
|
UTSW |
8 |
106,111,804 (GRCm39) |
missense |
probably damaging |
0.98 |
R2281:Kctd19
|
UTSW |
8 |
106,113,898 (GRCm39) |
missense |
probably benign |
0.00 |
R3767:Kctd19
|
UTSW |
8 |
106,123,112 (GRCm39) |
missense |
probably benign |
0.04 |
R3768:Kctd19
|
UTSW |
8 |
106,123,112 (GRCm39) |
missense |
probably benign |
0.04 |
R4285:Kctd19
|
UTSW |
8 |
106,109,581 (GRCm39) |
unclassified |
probably benign |
|
R4621:Kctd19
|
UTSW |
8 |
106,123,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R4701:Kctd19
|
UTSW |
8 |
106,117,061 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4969:Kctd19
|
UTSW |
8 |
106,122,959 (GRCm39) |
splice site |
probably null |
|
R5070:Kctd19
|
UTSW |
8 |
106,118,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R5401:Kctd19
|
UTSW |
8 |
106,109,617 (GRCm39) |
missense |
probably benign |
0.00 |
R5582:Kctd19
|
UTSW |
8 |
106,135,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R5783:Kctd19
|
UTSW |
8 |
106,113,612 (GRCm39) |
missense |
probably benign |
|
R6056:Kctd19
|
UTSW |
8 |
106,123,082 (GRCm39) |
missense |
probably damaging |
0.99 |
R6057:Kctd19
|
UTSW |
8 |
106,123,082 (GRCm39) |
missense |
probably damaging |
0.99 |
R6269:Kctd19
|
UTSW |
8 |
106,121,992 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6273:Kctd19
|
UTSW |
8 |
106,112,117 (GRCm39) |
missense |
probably benign |
|
R6631:Kctd19
|
UTSW |
8 |
106,111,960 (GRCm39) |
critical splice donor site |
probably null |
|
R7298:Kctd19
|
UTSW |
8 |
106,109,616 (GRCm39) |
missense |
probably benign |
0.01 |
R7474:Kctd19
|
UTSW |
8 |
106,118,664 (GRCm39) |
missense |
probably benign |
0.25 |
R7540:Kctd19
|
UTSW |
8 |
106,113,567 (GRCm39) |
missense |
probably benign |
0.00 |
R7923:Kctd19
|
UTSW |
8 |
106,111,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Kctd19
|
UTSW |
8 |
106,122,983 (GRCm39) |
missense |
probably benign |
0.02 |
R8117:Kctd19
|
UTSW |
8 |
106,122,069 (GRCm39) |
missense |
unknown |
|
R8836:Kctd19
|
UTSW |
8 |
106,112,028 (GRCm39) |
missense |
probably damaging |
0.98 |
R9155:Kctd19
|
UTSW |
8 |
106,120,571 (GRCm39) |
missense |
probably benign |
0.01 |
R9429:Kctd19
|
UTSW |
8 |
106,109,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R9481:Kctd19
|
UTSW |
8 |
106,120,249 (GRCm39) |
missense |
probably benign |
0.00 |
R9627:Kctd19
|
UTSW |
8 |
106,113,997 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Kctd19
|
UTSW |
8 |
106,111,967 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Kctd19
|
UTSW |
8 |
106,111,768 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Kctd19
|
UTSW |
8 |
106,115,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |