Incidental Mutation 'R3037:Kctd10'
| ID |
264842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kctd10
|
| Ensembl Gene |
ENSMUSG00000001098 |
| Gene Name |
potassium channel tetramerisation domain containing 10 |
| Synonyms |
|
| MMRRC Submission |
040553-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.577)
|
| Stock # |
R3037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114501633-114518566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114513061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 38
(V38A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001125]
[ENSMUST00000102581]
[ENSMUST00000134532]
|
| AlphaFold |
Q922M3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001125
AA Change: V38A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001125
Gene: ENSMUSG00000001098
AA Change: V38A
| 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 damaging
Transcript: ENSMUST00000102581
AA Change: V38A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098
AA Change: V38A
| 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: ENSMUST00000134173
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134532
AA Change: V38A
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138564
Gene: ENSMUSG00000001098
AA Change: V38A
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,582,486 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
G |
8: 117,854,278 (GRCm39) |
Y401C |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,979,380 (GRCm39) |
S645T |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,298,122 (GRCm39) |
Y274H |
probably benign |
Het |
| Cdh19 |
C |
A |
1: 110,882,337 (GRCm39) |
V52F |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,992,200 (GRCm39) |
V376I |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,998,542 (GRCm39) |
L141P |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,517,109 (GRCm39) |
N280K |
probably benign |
Het |
| Fam186a |
G |
T |
15: 99,841,675 (GRCm39) |
P1523Q |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,127 (GRCm39) |
I1352V |
possibly damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,350 (GRCm39) |
|
probably null |
Het |
| Gng11 |
A |
G |
6: 4,008,051 (GRCm39) |
E38G |
probably benign |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,180 (GRCm39) |
F178I |
probably benign |
Het |
| Il11ra1 |
T |
A |
4: 41,765,074 (GRCm39) |
S133R |
possibly damaging |
Het |
| Kcnab2 |
T |
A |
4: 152,478,213 (GRCm39) |
I349F |
possibly damaging |
Het |
| Lrig3 |
A |
G |
10: 125,845,901 (GRCm39) |
R777G |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,291,457 (GRCm39) |
D1160E |
probably benign |
Het |
| Nanog |
C |
A |
6: 122,690,227 (GRCm39) |
Q186K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,770,272 (GRCm39) |
N249S |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,866,632 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k41 |
A |
T |
2: 86,313,987 (GRCm39) |
I33N |
probably damaging |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,166 (GRCm39) |
M39R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,261,779 (GRCm39) |
D291E |
probably benign |
Het |
| Pdia6 |
C |
T |
12: 17,329,646 (GRCm39) |
R261W |
probably damaging |
Het |
| Pdlim4 |
C |
A |
11: 53,947,083 (GRCm39) |
G72V |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,766,328 (GRCm39) |
D2104N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,474 (GRCm39) |
L7P |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,502,700 (GRCm39) |
F170Y |
probably damaging |
Het |
| Scaf1 |
T |
C |
7: 44,656,771 (GRCm39) |
|
probably benign |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Tspan5 |
G |
A |
3: 138,604,116 (GRCm39) |
G167D |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,634,597 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,191 (GRCm39) |
I146L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,355 (GRCm39) |
F501L |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,155,410 (GRCm39) |
D241G |
unknown |
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 |
|
IGL00832:Kctd10
|
APN |
5 |
114,506,997 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCTGGGCCTCTAAACC -3'
(R):5'- TGATTCCACGGCCGAATCTC -3'
Sequencing Primer
(F):5'- GCTGGGCCTCTAAACCACTAGTATG -3'
(R):5'- CGAATCTCAGCATCGGGATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation