Incidental Mutation 'IGL00832:Kctd10'
| ID |
11584 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kctd10
|
| Ensembl Gene |
ENSMUSG00000001098 |
| Gene Name |
potassium channel tetramerisation domain containing 10 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.566)
|
| Stock # |
IGL00832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114501633-114518566 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 114506997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001125]
[ENSMUST00000102581]
[ENSMUST00000134532]
[ENSMUST00000202006]
|
| AlphaFold |
Q922M3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001125
|
| SMART Domains |
Protein: ENSMUSP00000001125
Gene: ENSMUSG00000001098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
BTB
|
32 |
132 |
3.21e-19 |
SMART |
|
low complexity region
|
287 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102581
|
| SMART Domains |
Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
BTB
|
32 |
132 |
6.89e-19 |
SMART |
|
low complexity region
|
286 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134173
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134532
|
| SMART Domains |
Protein: ENSMUSP00000138564
Gene: ENSMUSG00000001098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
Pfam:BTB_2
|
34 |
89 |
2.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152694
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202006
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
5 |
692 |
N/A |
SMART |
|
IQ
|
693 |
715 |
1.21e1 |
SMART |
|
IQ
|
716 |
738 |
6.6e-2 |
SMART |
|
Pfam:Myosin_TH1
|
834 |
1013 |
2.3e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E10.5 and E11.5, abnormal vasculature, absent vitelline circulation, enlarged pericardium, thin myocardium and defective heart valve defect formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,193 (GRCm39) |
Y407C |
probably damaging |
Het |
| Amtn |
T |
G |
5: 88,532,908 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Cdon |
T |
A |
9: 35,389,412 (GRCm39) |
I839N |
probably damaging |
Het |
| Ces2g |
A |
G |
8: 105,694,471 (GRCm39) |
|
probably benign |
Het |
| Cgas |
A |
T |
9: 78,341,599 (GRCm39) |
C393S |
probably damaging |
Het |
| Colq |
G |
T |
14: 31,250,303 (GRCm39) |
C367* |
probably null |
Het |
| Dop1b |
T |
C |
16: 93,560,289 (GRCm39) |
V745A |
probably benign |
Het |
| E2f8 |
C |
T |
7: 48,517,951 (GRCm39) |
G657D |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,388,770 (GRCm39) |
T334M |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,558 (GRCm39) |
D494G |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,253,632 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,349 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
G |
A |
3: 3,706,336 (GRCm39) |
C77Y |
probably damaging |
Het |
| Ido1 |
G |
A |
8: 25,074,575 (GRCm39) |
T265I |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,475,814 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,668,606 (GRCm39) |
|
probably null |
Het |
| Ltk |
A |
T |
2: 119,586,086 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,194,768 (GRCm39) |
D84G |
probably benign |
Het |
| Mc3r |
A |
T |
2: 172,090,948 (GRCm39) |
I57F |
possibly damaging |
Het |
| Mmp1b |
T |
A |
9: 7,387,023 (GRCm39) |
Q63L |
possibly damaging |
Het |
| Ncr1 |
C |
A |
7: 4,344,287 (GRCm39) |
T225N |
possibly damaging |
Het |
| Nf2 |
T |
C |
11: 4,741,123 (GRCm39) |
K364E |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,906,839 (GRCm39) |
L1152H |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,034,632 (GRCm39) |
V432A |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,989,893 (GRCm39) |
M425L |
probably benign |
Het |
| Slc5a3 |
T |
C |
16: 91,874,519 (GRCm39) |
M192T |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,714 (GRCm39) |
S468C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,864 (GRCm39) |
T104A |
probably benign |
Het |
| Unc13b |
T |
G |
4: 43,258,921 (GRCm39) |
V4153G |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,351 (GRCm39) |
T102A |
probably damaging |
Het |
|
| Other mutations in Kctd10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Kctd10
|
APN |
5 |
114,505,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Kctd10
|
UTSW |
5 |
114,507,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2137:Kctd10
|
UTSW |
5 |
114,505,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:Kctd10
|
UTSW |
5 |
114,505,410 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3037:Kctd10
|
UTSW |
5 |
114,513,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Kctd10
|
UTSW |
5 |
114,512,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5390:Kctd10
|
UTSW |
5 |
114,503,764 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5794:Kctd10
|
UTSW |
5 |
114,505,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Kctd10
|
UTSW |
5 |
114,518,523 (GRCm39) |
unclassified |
probably benign |
|
|
R6938:Kctd10
|
UTSW |
5 |
114,508,191 (GRCm39) |
nonsense |
probably null |
|
|
R8119:Kctd10
|
UTSW |
5 |
114,505,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8862:Kctd10
|
UTSW |
5 |
114,503,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9096:Kctd10
|
UTSW |
5 |
114,508,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Kctd10
|
UTSW |
5 |
114,505,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation