Incidental Mutation 'R5582:Kctd19'
| ID |
438510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd19
|
| Ensembl Gene |
ENSMUSG00000051648 |
| Gene Name |
potassium channel tetramerisation domain containing 19 |
| Synonyms |
4922504H04Rik |
| MMRRC Submission |
043136-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5582 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106109439-106140134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106135075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 62
(T62M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063071]
[ENSMUST00000167294]
[ENSMUST00000168888]
|
| AlphaFold |
Q562E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063071
AA Change: T62M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: T62M
| 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: T62M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: T62M
| 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 damaging
Transcript: ENSMUST00000168888
AA Change: T62M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131732
Gene: ENSMUSG00000051648
AA Change: T62M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB_2
|
15 |
95 |
4.3e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,586,639 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,399,245 (GRCm39) |
D444G |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,750 (GRCm39) |
R96L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,954 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,788 (GRCm39) |
Y3090C |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,043,719 (GRCm39) |
S647P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,076,979 (GRCm39) |
Y372C |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,965,573 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
T |
A |
2: 154,187,894 (GRCm39) |
E477D |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,677 (GRCm39) |
|
probably benign |
Het |
| Chdh |
A |
G |
14: 29,758,816 (GRCm39) |
Y587C |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 111,015,901 (GRCm39) |
V472A |
probably damaging |
Het |
| Clasrp |
A |
C |
7: 19,320,781 (GRCm39) |
I326S |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,342 (GRCm39) |
Q334L |
possibly damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,319 (GRCm39) |
|
probably null |
Het |
| Entpd7 |
T |
C |
19: 43,693,433 (GRCm39) |
I171T |
probably damaging |
Het |
| Fosl1 |
T |
C |
19: 5,505,295 (GRCm39) |
|
probably benign |
Het |
| Gm6124 |
A |
G |
7: 38,869,622 (GRCm39) |
|
noncoding transcript |
Het |
| H3f3a |
A |
T |
1: 180,637,650 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
AGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGGAGGAGGAGG |
12: 8,374,048 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
CCAGGGC |
CC |
7: 79,748,087 (GRCm39) |
|
probably null |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,990 (GRCm39) |
Y110C |
probably damaging |
Het |
| Ints9 |
C |
T |
14: 65,266,345 (GRCm39) |
T399M |
possibly damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,643 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,990,802 (GRCm39) |
|
probably null |
Het |
| Or11h23 |
T |
C |
14: 50,948,425 (GRCm39) |
Y213H |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,343,233 (GRCm39) |
I212T |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,165 (GRCm39) |
M14K |
unknown |
Het |
| Pibf1 |
C |
T |
14: 99,374,566 (GRCm39) |
A335V |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,767,522 (GRCm39) |
L1256* |
probably null |
Het |
| Plbd2 |
T |
C |
5: 120,631,171 (GRCm39) |
E202G |
probably benign |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,219 (GRCm39) |
S516P |
probably damaging |
Het |
| Ppt2 |
G |
A |
17: 34,836,373 (GRCm39) |
T229M |
probably damaging |
Het |
| Prr14 |
A |
T |
7: 127,075,569 (GRCm39) |
I526F |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,820,575 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,395,373 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
A |
9: 79,997,158 (GRCm39) |
D57E |
possibly damaging |
Het |
| Setd5 |
T |
C |
6: 113,091,886 (GRCm39) |
Y217H |
probably damaging |
Het |
| Sgcg |
T |
C |
14: 61,462,754 (GRCm39) |
T198A |
probably damaging |
Het |
| Sipa1 |
C |
T |
19: 5,704,729 (GRCm39) |
G622D |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,737 (GRCm39) |
P345Q |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,803,652 (GRCm39) |
D1054G |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,210,083 (GRCm39) |
T898S |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,565,284 (GRCm39) |
P1209S |
probably damaging |
Het |
| Tmem63b |
C |
A |
17: 45,978,689 (GRCm39) |
V294L |
probably benign |
Het |
| Tnks |
G |
A |
8: 35,408,015 (GRCm39) |
R238C |
probably benign |
Het |
| Tsn |
G |
A |
1: 118,232,944 (GRCm39) |
T120I |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,731,814 (GRCm39) |
F479I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,745,888 (GRCm39) |
M849V |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,965,738 (GRCm39) |
S574P |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,435 (GRCm39) |
Y20H |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,972 (GRCm39) |
|
probably benign |
Het |
| Zfp780b |
T |
A |
7: 27,664,252 (GRCm39) |
N101I |
probably 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 |
|
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 |
|
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'- CCGAAGAGTTATCTCAGAACCC -3'
(R):5'- AGTACTTCTTGTCAGGGTGC -3'
Sequencing Primer
(F):5'- TCTCAGAACCCAATATAGAAAAGAGC -3'
(R):5'- CTTGTCAGGGTGCTTTCAATTTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation