Incidental Mutation 'R3768:Kctd19'
ID |
273118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd19
|
Ensembl Gene |
ENSMUSG00000051648 |
Gene Name |
potassium channel tetramerisation domain containing 19 |
Synonyms |
4922504H04Rik |
MMRRC Submission |
040745-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R3768 (G1)
|
Quality Score |
182 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106109439-106140134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106123112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 101
(T101A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063071]
[ENSMUST00000167294]
[ENSMUST00000168888]
|
AlphaFold |
Q562E2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063071
AA Change: T101A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000050687 Gene: ENSMUSG00000051648 AA Change: T101A
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: T101A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000130831 Gene: ENSMUSG00000051648 AA Change: T101A
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: 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,204,217 (GRCm39) |
R353G |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,606,202 (GRCm39) |
D1153G |
possibly damaging |
Het |
Ankrd12 |
T |
C |
17: 66,292,715 (GRCm39) |
Y906C |
probably benign |
Het |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,113,893 (GRCm39) |
K160R |
probably damaging |
Het |
Atp8a2 |
T |
A |
14: 60,281,785 (GRCm39) |
H142L |
probably benign |
Het |
B3gnt2 |
T |
C |
11: 22,786,765 (GRCm39) |
K141R |
probably damaging |
Het |
Btbd7 |
G |
A |
12: 102,761,451 (GRCm39) |
P578L |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
Cnga4 |
A |
G |
7: 105,056,887 (GRCm39) |
N330S |
probably damaging |
Het |
Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
Cxcl15 |
A |
C |
5: 90,949,303 (GRCm39) |
D156A |
unknown |
Het |
D630045J12Rik |
A |
G |
6: 38,119,844 (GRCm39) |
S1633P |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,510,085 (GRCm39) |
N1581I |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Dscaml1 |
T |
A |
9: 45,643,435 (GRCm39) |
F1285I |
possibly damaging |
Het |
Fgf10 |
G |
T |
13: 118,918,083 (GRCm39) |
V124F |
probably damaging |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,335,449 (GRCm39) |
D1425N |
probably benign |
Het |
Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
Ncor2 |
A |
G |
5: 125,105,751 (GRCm39) |
V1613A |
probably damaging |
Het |
Nlgn2 |
C |
T |
11: 69,719,230 (GRCm39) |
V207I |
possibly damaging |
Het |
Or10v1 |
G |
A |
19: 11,873,676 (GRCm39) |
G97D |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
Or2y14 |
T |
C |
11: 49,404,600 (GRCm39) |
I45T |
probably damaging |
Het |
Or4d10c |
A |
G |
19: 12,065,304 (GRCm39) |
I284T |
probably damaging |
Het |
Osbpl3 |
G |
A |
6: 50,324,982 (GRCm39) |
P172L |
possibly damaging |
Het |
Pabpc4 |
T |
A |
4: 123,188,405 (GRCm39) |
V338D |
probably damaging |
Het |
Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
Pik3c3 |
T |
A |
18: 30,466,326 (GRCm39) |
S792R |
probably damaging |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sap25 |
T |
A |
5: 137,640,632 (GRCm39) |
F171I |
probably damaging |
Het |
Serpinb11 |
T |
C |
1: 107,305,392 (GRCm39) |
|
probably null |
Het |
Tarm1 |
A |
T |
7: 3,546,097 (GRCm39) |
S69T |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,153,878 (GRCm39) |
K846R |
probably damaging |
Het |
Zfp229 |
A |
T |
17: 21,964,844 (GRCm39) |
H358L |
probably damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
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 |
|
IGL01786:Kctd19
|
APN |
8 |
106,116,936 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTCAGGGTGTGGGCC -3'
(R):5'- GGGGATGAATACACATAATGAGCAC -3'
Sequencing Primer
(F):5'- CTGCCCGTGACGGTACCTG -3'
(R):5'- TCTGAAATCAGCCTGTGCAG -3'
|
Posted On |
2015-03-25 |