Incidental Mutation 'R1582:Kctd19'
ID |
171477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kctd19
|
Ensembl Gene |
ENSMUSG00000051648 |
Gene Name |
potassium channel tetramerisation domain containing 19 |
Synonyms |
4922504H04Rik |
MMRRC Submission |
039619-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R1582 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106109439-106140134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106122092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 152
(L152F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063071]
[ENSMUST00000167294]
[ENSMUST00000168888]
|
AlphaFold |
Q562E2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063071
AA Change: L152F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050687 Gene: ENSMUSG00000051648 AA Change: L152F
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 damaging
Transcript: ENSMUST00000167294
AA Change: L152F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130831 Gene: ENSMUSG00000051648 AA Change: L152F
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 |
silent
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: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
C |
G |
2: 31,690,371 (GRCm39) |
A630G |
probably damaging |
Het |
Actr3 |
A |
G |
1: 125,333,662 (GRCm39) |
Y202H |
probably benign |
Het |
Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
Atl3 |
A |
G |
19: 7,494,264 (GRCm39) |
T138A |
probably damaging |
Het |
Bpifa2 |
T |
C |
2: 153,855,638 (GRCm39) |
S188P |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,982,291 (GRCm39) |
T3821A |
unknown |
Het |
Dcun1d2 |
A |
G |
8: 13,330,926 (GRCm39) |
L68P |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,842,566 (GRCm39) |
L630I |
probably damaging |
Het |
Ddx25 |
T |
C |
9: 35,457,272 (GRCm39) |
T348A |
probably damaging |
Het |
Dtnb |
C |
T |
12: 3,823,554 (GRCm39) |
T580M |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,074,749 (GRCm39) |
S561G |
probably damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,771,995 (GRCm39) |
I101T |
possibly damaging |
Het |
Erich3 |
T |
C |
3: 154,469,960 (GRCm39) |
|
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,068,398 (GRCm39) |
T611A |
probably damaging |
Het |
Gpbp1 |
T |
C |
13: 111,573,066 (GRCm39) |
|
probably null |
Het |
H2-Oa |
A |
T |
17: 34,313,695 (GRCm39) |
T218S |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,552,591 (GRCm39) |
M1189K |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,947,398 (GRCm39) |
V862A |
probably benign |
Het |
Lct |
T |
C |
1: 128,228,299 (GRCm39) |
T1065A |
probably damaging |
Het |
Mark3 |
G |
A |
12: 111,621,744 (GRCm39) |
A697T |
probably benign |
Het |
Mosmo |
A |
G |
7: 120,329,728 (GRCm39) |
I116M |
possibly damaging |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Muc15 |
A |
T |
2: 110,567,817 (GRCm39) |
M321L |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,572,892 (GRCm39) |
N670K |
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,090 (GRCm39) |
C172S |
probably damaging |
Het |
Or5e1 |
G |
T |
7: 108,354,317 (GRCm39) |
V85L |
probably benign |
Het |
Or6z3 |
A |
G |
7: 6,463,813 (GRCm39) |
M102V |
probably benign |
Het |
Ppara |
T |
C |
15: 85,682,429 (GRCm39) |
I375T |
possibly damaging |
Het |
Prss27 |
A |
G |
17: 24,263,877 (GRCm39) |
I188V |
probably benign |
Het |
Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
Relt |
C |
T |
7: 100,500,560 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
Smarca2 |
G |
A |
19: 26,729,305 (GRCm39) |
D19N |
probably damaging |
Het |
Sorbs2 |
G |
A |
8: 46,258,814 (GRCm39) |
G620D |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,181,038 (GRCm39) |
Q46K |
probably benign |
Het |
Spata6 |
C |
G |
4: 111,637,992 (GRCm39) |
S274* |
probably null |
Het |
Spata6 |
C |
T |
4: 111,637,994 (GRCm39) |
P275S |
probably benign |
Het |
Tas2r108 |
T |
A |
6: 40,470,566 (GRCm39) |
V14D |
probably benign |
Het |
Thbs2 |
G |
T |
17: 14,891,550 (GRCm39) |
P996T |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,839,090 (GRCm39) |
Q620R |
probably damaging |
Het |
Ubap2l |
A |
G |
3: 89,941,978 (GRCm39) |
S203P |
probably damaging |
Het |
Unc45b |
G |
A |
11: 82,816,771 (GRCm39) |
G404S |
probably benign |
Het |
Uri1 |
A |
G |
7: 37,664,811 (GRCm39) |
S292P |
possibly damaging |
Het |
Usp21 |
A |
T |
1: 171,110,655 (GRCm39) |
C444S |
probably damaging |
Het |
Vmn1r117 |
A |
T |
7: 20,617,484 (GRCm39) |
V188D |
possibly damaging |
Het |
Vmn1r7 |
T |
C |
6: 57,002,143 (GRCm39) |
D39G |
probably damaging |
Het |
Wdr25 |
T |
C |
12: 108,863,980 (GRCm39) |
F42L |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGCGGAACTCGCTGCATTC -3'
(R):5'- AAGTCCCTATGCTGGGACATCAGG -3'
Sequencing Primer
(F):5'- ATTCGCACTCGATCAGGG -3'
(R):5'- tgaggacccagaacccac -3'
|
Posted On |
2014-04-13 |