Incidental Mutation 'R6631:Kctd19'
| ID |
525134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd19
|
| Ensembl Gene |
ENSMUSG00000051648 |
| Gene Name |
potassium channel tetramerisation domain containing 19 |
| Synonyms |
4922504H04Rik |
| MMRRC Submission |
044753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6631 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106109439-106140134 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 106111960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130914
(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 null
Transcript: ENSMUST00000063071
|
| SMART Domains |
Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
| 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 |
noncoding transcript
Transcript: ENSMUST00000161672
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167294
|
| SMART Domains |
Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
| 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 null
Transcript: ENSMUST00000168196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214056
|
| Meta Mutation Damage Score |
0.9484 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
T |
9: 15,203,326 (GRCm39) |
N159K |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,245,058 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,861,107 (GRCm39) |
D4G |
possibly damaging |
Het |
| Avil |
A |
G |
10: 126,843,618 (GRCm39) |
S153G |
possibly damaging |
Het |
| C2cd3 |
G |
A |
7: 100,067,747 (GRCm39) |
D877N |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,519,405 (GRCm39) |
A257V |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,202,931 (GRCm39) |
H366L |
probably benign |
Het |
| Cyp2c37 |
C |
T |
19: 39,998,287 (GRCm39) |
S393L |
probably damaging |
Het |
| Defb8 |
T |
A |
8: 19,495,950 (GRCm39) |
I37L |
probably benign |
Het |
| Dennd4b |
C |
A |
3: 90,185,039 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
G |
A |
7: 140,936,115 (GRCm39) |
R223H |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,961,400 (GRCm39) |
L1302P |
probably benign |
Het |
| Exoc3l |
A |
G |
8: 106,021,993 (GRCm39) |
W37R |
probably damaging |
Het |
| Fap |
T |
C |
2: 62,333,725 (GRCm39) |
N668S |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,565,107 (GRCm39) |
N250S |
probably damaging |
Het |
| H2bc12 |
T |
A |
13: 22,220,391 (GRCm39) |
V112E |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,309,956 (GRCm39) |
P732Q |
probably damaging |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,144,712 (GRCm39) |
L332* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,443,697 (GRCm39) |
S1290N |
probably benign |
Het |
| Klk1b3 |
C |
T |
7: 43,850,888 (GRCm39) |
T140I |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,081,477 (GRCm39) |
N1305D |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,410,201 (GRCm39) |
V1515E |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,813,440 (GRCm39) |
|
probably null |
Het |
| Mocos |
A |
G |
18: 24,832,988 (GRCm39) |
T818A |
probably benign |
Het |
| Mpc2 |
G |
T |
1: 165,307,081 (GRCm39) |
W94L |
probably benign |
Het |
| Mrc1 |
G |
A |
2: 14,243,296 (GRCm39) |
V141I |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,697,663 (GRCm39) |
T538A |
probably benign |
Het |
| Ndufs3 |
G |
A |
2: 90,732,744 (GRCm39) |
T114M |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,157,621 (GRCm39) |
C320R |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,185 (GRCm39) |
Q232L |
probably benign |
Het |
| Pcdha11 |
G |
T |
18: 37,138,844 (GRCm39) |
A158S |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,109 (GRCm39) |
D388E |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,712,069 (GRCm39) |
E1051G |
possibly damaging |
Het |
| Phlda2 |
T |
A |
7: 143,055,918 (GRCm39) |
I104F |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Pomt2 |
C |
T |
12: 87,186,417 (GRCm39) |
|
probably null |
Het |
| Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
T |
G |
4: 142,861,454 (GRCm39) |
Q612P |
probably benign |
Het |
| Prr5 |
C |
A |
15: 84,586,978 (GRCm39) |
R243S |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,233 (GRCm39) |
I250T |
probably benign |
Het |
| Rad54l2 |
A |
T |
9: 106,590,739 (GRCm39) |
C462* |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,329,969 (GRCm39) |
E682V |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,725 (GRCm39) |
D210G |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,748 (GRCm39) |
D326E |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,209,374 (GRCm39) |
E829G |
probably damaging |
Het |
| Steap4 |
G |
A |
5: 8,026,995 (GRCm39) |
W319* |
probably null |
Het |
| Taar8c |
A |
G |
10: 23,977,701 (GRCm39) |
V37A |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,184,654 (GRCm39) |
Y753F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,937,222 (GRCm39) |
S3770G |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,708,460 (GRCm39) |
N48S |
possibly damaging |
Het |
| Zfp558 |
C |
A |
9: 18,368,219 (GRCm39) |
G190* |
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 |
|
|
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'- ATGATGTCGGTCAGGAAGC -3'
(R):5'- GCCTCTGCCTAATGCTAACG -3'
Sequencing Primer
(F):5'- TCAGGAAGCGGTGACATTTC -3'
(R):5'- TCTGCCTAATGCTAACGGGACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation