Incidental Mutation 'R7298:Kctd19'
| ID |
566804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd19
|
| Ensembl Gene |
ENSMUSG00000051648 |
| Gene Name |
potassium channel tetramerisation domain containing 19 |
| Synonyms |
4922504H04Rik |
| MMRRC Submission |
045402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7298 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106109439-106140134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 106109616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 942
(V942G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014927]
[ENSMUST00000063071]
[ENSMUST00000159286]
[ENSMUST00000160191]
[ENSMUST00000167294]
[ENSMUST00000168196]
[ENSMUST00000214056]
|
| AlphaFold |
Q562E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014927
|
| SMART Domains |
Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
718 |
N/A |
INTRINSIC |
|
RhoGEF
|
729 |
900 |
3.15e-29 |
SMART |
|
PH
|
914 |
1022 |
1.44e-5 |
SMART |
|
low complexity region
|
1148 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063071
AA Change: V942G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: V942G
| 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: ENSMUST00000159286
|
| SMART Domains |
Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1aua_2
|
136 |
275 |
5e-9 |
SMART |
|
Blast:SEC14
|
137 |
271 |
9e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160191
|
| SMART Domains |
Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
295 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
490 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
649 |
N/A |
INTRINSIC |
|
RhoGEF
|
660 |
831 |
3.15e-29 |
SMART |
|
PH
|
845 |
953 |
1.44e-5 |
SMART |
|
low complexity region
|
1079 |
1100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167294
AA Change: V919G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: V919G
| 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 |
unknown
Transcript: ENSMUST00000168196
AA Change: S136R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214056
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,807,106 (GRCm39) |
T51S |
probably benign |
Het |
| Abcc1 |
A |
G |
16: 14,214,336 (GRCm39) |
D204G |
possibly damaging |
Het |
| Acaa1b |
C |
T |
9: 118,980,915 (GRCm39) |
E172K |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,696,806 (GRCm39) |
T117I |
probably benign |
Het |
| Agmat |
A |
G |
4: 141,474,275 (GRCm39) |
E52G |
possibly damaging |
Het |
| Alg9 |
C |
T |
9: 50,690,361 (GRCm39) |
A121V |
probably damaging |
Het |
| Atf7ip2 |
T |
C |
16: 10,027,032 (GRCm39) |
I100T |
possibly damaging |
Het |
| Calm2 |
T |
C |
17: 87,750,165 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
A |
T |
16: 44,301,775 (GRCm39) |
M1838L |
probably benign |
Het |
| Cym |
A |
G |
3: 107,127,009 (GRCm39) |
Y49H |
probably benign |
Het |
| Dchs1 |
G |
A |
7: 105,404,338 (GRCm39) |
R2735* |
probably null |
Het |
| Dnajc6 |
T |
C |
4: 101,463,808 (GRCm39) |
I187T |
probably benign |
Het |
| Fam151a |
G |
T |
4: 106,592,725 (GRCm39) |
R69L |
possibly damaging |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
C |
A |
14: 101,966,961 (GRCm39) |
G97V |
unknown |
Het |
| Hacl1 |
A |
T |
14: 31,338,443 (GRCm39) |
M378K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv1-82 |
A |
T |
12: 115,916,574 (GRCm39) |
I6N |
possibly damaging |
Het |
| Lce1l |
C |
T |
3: 92,757,483 (GRCm39) |
C125Y |
unknown |
Het |
| Mmp8 |
T |
C |
9: 7,560,449 (GRCm39) |
F42S |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,148,411 (GRCm39) |
L529P |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,268,759 (GRCm39) |
Y548N |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,865 (GRCm39) |
F59S |
probably damaging |
Het |
| Or6aa1 |
T |
A |
7: 86,044,131 (GRCm39) |
T192S |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,545,614 (GRCm39) |
I514F |
probably damaging |
Het |
| Pira12 |
T |
A |
7: 3,898,264 (GRCm39) |
I353F |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,623,458 (GRCm39) |
S603* |
probably null |
Het |
| Ppa1 |
T |
A |
10: 61,502,691 (GRCm39) |
D171E |
probably benign |
Het |
| Pramel23 |
C |
A |
4: 143,425,075 (GRCm39) |
D123Y |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,518,737 (GRCm39) |
C240R |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,285,016 (GRCm39) |
D714G |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,633,936 (GRCm39) |
F157L |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,600,417 (GRCm39) |
K1475E |
unknown |
Het |
| Retnlg |
A |
G |
16: 48,693,237 (GRCm39) |
N5D |
probably benign |
Het |
| Rev1 |
T |
C |
1: 38,092,185 (GRCm39) |
T1245A |
probably damaging |
Het |
| Rngtt |
G |
T |
4: 33,362,927 (GRCm39) |
L360F |
probably damaging |
Het |
| Scrib |
A |
C |
15: 75,936,610 (GRCm39) |
V447G |
probably damaging |
Het |
| Slc22a6 |
C |
A |
19: 8,598,684 (GRCm39) |
A247E |
possibly damaging |
Het |
| Slc25a20 |
G |
A |
9: 108,539,343 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
T |
A |
1: 69,958,585 (GRCm39) |
|
probably null |
Het |
| Stx3 |
C |
T |
19: 11,767,412 (GRCm39) |
W87* |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,181,961 (GRCm39) |
M1158K |
possibly damaging |
Het |
| Tmed9 |
C |
A |
13: 55,741,107 (GRCm39) |
H41N |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
G |
A |
14: 53,887,242 (GRCm39) |
S54N |
probably benign |
Het |
| Tyk2 |
C |
T |
9: 21,020,156 (GRCm39) |
V1001I |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,709,065 (GRCm39) |
V15A |
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,065,949 (GRCm39) |
E661G |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,449,979 (GRCm39) |
I75N |
probably benign |
Het |
| Zfp346 |
T |
G |
13: 55,278,416 (GRCm39) |
V258G |
probably damaging |
Het |
| Zfp87 |
T |
A |
13: 74,520,513 (GRCm39) |
K188N |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,377,299 (GRCm39) |
S848* |
probably null |
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 |
|
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 |
|
|
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'- TGGCAGTGACACTCTGTTTTC -3'
(R):5'- TCCCTGCTCAGATAAGGGAG -3'
Sequencing Primer
(F):5'- GTTTTCTCAGAGAAGAAATCTAGGC -3'
(R):5'- GAGCACCCCTCACACGGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation