Incidental Mutation 'R0478:Kiz'
| ID |
43187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kiz
|
| Ensembl Gene |
ENSMUSG00000074749 |
| Gene Name |
kizuna centrosomal protein |
| Synonyms |
Plk1s1, Ncrna00153, LOC228730, Gm114 |
| MMRRC Submission |
038678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
146697784-146812017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146784078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 537
(V537A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099278]
|
| AlphaFold |
Q3UXL4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099278
AA Change: V537A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: V537A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
102 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
694 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1446 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutants with truncated C-term transcript were normal size and weight, bred normally with normal litter size, and no obvious defects during fetal or adult development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| 4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
| Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
| Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
| Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
| Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
| Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
| Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
| Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
| Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
| Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
| Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
| Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
| Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
| Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
| Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
| St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
| Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
| Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
Het |
|
| Other mutations in Kiz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Kiz
|
APN |
2 |
146,705,721 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01649:Kiz
|
APN |
2 |
146,731,229 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02184:Kiz
|
APN |
2 |
146,731,520 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02500:Kiz
|
APN |
2 |
146,705,733 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02548:Kiz
|
APN |
2 |
146,712,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0284:Kiz
|
UTSW |
2 |
146,705,730 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0364:Kiz
|
UTSW |
2 |
146,784,076 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0685:Kiz
|
UTSW |
2 |
146,697,978 (GRCm39) |
splice site |
probably benign |
|
|
R0767:Kiz
|
UTSW |
2 |
146,730,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0866:Kiz
|
UTSW |
2 |
146,697,973 (GRCm39) |
splice site |
probably benign |
|
|
R1180:Kiz
|
UTSW |
2 |
146,811,927 (GRCm39) |
missense |
unknown |
|
|
R2037:Kiz
|
UTSW |
2 |
146,811,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Kiz
|
UTSW |
2 |
146,733,203 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2877:Kiz
|
UTSW |
2 |
146,731,476 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4780:Kiz
|
UTSW |
2 |
146,731,166 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4822:Kiz
|
UTSW |
2 |
146,732,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Kiz
|
UTSW |
2 |
146,784,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Kiz
|
UTSW |
2 |
146,811,899 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5473:Kiz
|
UTSW |
2 |
146,811,915 (GRCm39) |
nonsense |
probably null |
|
|
R5878:Kiz
|
UTSW |
2 |
146,731,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6216:Kiz
|
UTSW |
2 |
146,731,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6222:Kiz
|
UTSW |
2 |
146,732,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Kiz
|
UTSW |
2 |
146,792,430 (GRCm39) |
splice site |
probably null |
|
|
R7475:Kiz
|
UTSW |
2 |
146,733,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7580:Kiz
|
UTSW |
2 |
146,798,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7848:Kiz
|
UTSW |
2 |
146,731,100 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8395:Kiz
|
UTSW |
2 |
146,794,949 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8513:Kiz
|
UTSW |
2 |
146,712,684 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8933:Kiz
|
UTSW |
2 |
146,784,037 (GRCm39) |
missense |
|
|
|
R9146:Kiz
|
UTSW |
2 |
146,705,740 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9352:Kiz
|
UTSW |
2 |
146,794,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF021:Kiz
|
UTSW |
2 |
146,712,750 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1177:Kiz
|
UTSW |
2 |
146,777,747 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTTTCTTTGAAACACTGTAGGCAAC -3'
(R):5'- CATCTCCACAGCCACTTGAAACTTCTAA -3'
Sequencing Primer
(F):5'- ACACTGTAGGCAACAACATTATTG -3'
(R):5'- gccatactaagccatctctcc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation