Incidental Mutation 'IGL02654:Kif20a'
| ID |
302284 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif20a
|
| Ensembl Gene |
ENSMUSG00000003779 |
| Gene Name |
kinesin family member 20A |
| Synonyms |
Rabkinesin-6, Rab6kifl |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34757677-34766330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34765076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 770
(R770H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025228]
[ENSMUST00000133181]
[ENSMUST00000166044]
[ENSMUST00000167161]
|
| AlphaFold |
P97329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025228
|
| SMART Domains |
Protein: ENSMUSP00000025228
Gene: ENSMUSG00000024370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APC8
|
22 |
152 |
1.9e-42 |
PFAM |
|
Blast:TPR
|
175 |
202 |
4e-10 |
BLAST |
|
TPR
|
263 |
296 |
4.21e1 |
SMART |
|
TPR
|
331 |
364 |
1.74e-4 |
SMART |
|
TPR
|
365 |
398 |
1.83e-3 |
SMART |
|
TPR
|
399 |
432 |
1.37e-2 |
SMART |
|
TPR
|
433 |
466 |
8.97e0 |
SMART |
|
TPR
|
510 |
543 |
1.82e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133181
|
| SMART Domains |
Protein: ENSMUSP00000122420
Gene: ENSMUSG00000024370
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANAPC8
|
28 |
151 |
6.9e-31 |
PFAM |
|
Blast:TPR
|
175 |
202 |
4e-10 |
BLAST |
|
TPR
|
263 |
296 |
4.21e1 |
SMART |
|
TPR
|
331 |
364 |
1.74e-4 |
SMART |
|
TPR
|
365 |
398 |
1.83e-3 |
SMART |
|
TPR
|
399 |
432 |
1.37e-2 |
SMART |
|
TPR
|
433 |
466 |
8.97e0 |
SMART |
|
TPR
|
510 |
543 |
1.82e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138400
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166044
AA Change: R770H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
AA Change: R770H
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
61 |
514 |
3.95e-141 |
SMART |
|
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167161
AA Change: R770H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
AA Change: R770H
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
61 |
514 |
3.95e-141 |
SMART |
|
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,977,826 (GRCm39) |
I468T |
possibly damaging |
Het |
| Actmap |
A |
G |
7: 26,903,298 (GRCm39) |
E289G |
probably damaging |
Het |
| Anxa13 |
A |
G |
15: 58,205,397 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef33 |
A |
G |
17: 80,677,740 (GRCm39) |
Y429C |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,275,433 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,817,473 (GRCm39) |
|
probably benign |
Het |
| Dld |
G |
T |
12: 31,383,916 (GRCm39) |
H396N |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,319 (GRCm39) |
V942A |
probably damaging |
Het |
| Eln |
A |
T |
5: 134,745,908 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,908,271 (GRCm39) |
T2577M |
possibly damaging |
Het |
| Gad1 |
A |
T |
2: 70,403,125 (GRCm39) |
K73M |
possibly damaging |
Het |
| Gipc1 |
T |
C |
8: 84,389,780 (GRCm39) |
V253A |
probably damaging |
Het |
| Gtpbp10 |
A |
C |
5: 5,593,372 (GRCm39) |
|
probably benign |
Het |
| Hgf |
A |
T |
5: 16,766,049 (GRCm39) |
T62S |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,161 (GRCm39) |
S1134P |
probably damaging |
Het |
| Hnrnpc |
A |
G |
14: 52,321,574 (GRCm39) |
L80S |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,401 (GRCm39) |
T374A |
possibly damaging |
Het |
| Mlana |
A |
G |
19: 29,682,018 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
C |
T |
4: 129,116,112 (GRCm39) |
G851R |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,716 (GRCm39) |
I169V |
possibly damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,555 (GRCm39) |
Y195* |
probably null |
Het |
| P3h3 |
A |
G |
6: 124,822,228 (GRCm39) |
V585A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,614 (GRCm39) |
M468K |
probably benign |
Het |
| Prl8a2 |
T |
G |
13: 27,536,780 (GRCm39) |
I134S |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,738,730 (GRCm39) |
V2828A |
probably damaging |
Het |
| Rhbdd1 |
G |
T |
1: 82,320,504 (GRCm39) |
V163F |
probably benign |
Het |
| Rrp1 |
A |
G |
10: 78,248,773 (GRCm39) |
V5A |
probably benign |
Het |
| Sephs1 |
A |
T |
2: 4,889,366 (GRCm39) |
N48I |
probably benign |
Het |
| Speer4a3 |
T |
A |
5: 26,158,205 (GRCm39) |
H49L |
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,242 (GRCm39) |
Y149H |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,578,324 (GRCm39) |
D396G |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,015 (GRCm39) |
S2419G |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,618,606 (GRCm39) |
T35A |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,772 (GRCm39) |
F362Y |
probably damaging |
Het |
|
| Other mutations in Kif20a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02448:Kif20a
|
APN |
18 |
34,761,507 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02739:Kif20a
|
APN |
18 |
34,761,996 (GRCm39) |
nonsense |
probably null |
|
|
R0600:Kif20a
|
UTSW |
18 |
34,762,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0748:Kif20a
|
UTSW |
18 |
34,761,241 (GRCm39) |
splice site |
probably benign |
|
|
R0856:Kif20a
|
UTSW |
18 |
34,764,271 (GRCm39) |
missense |
probably benign |
|
|
R1278:Kif20a
|
UTSW |
18 |
34,759,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1752:Kif20a
|
UTSW |
18 |
34,764,634 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2036:Kif20a
|
UTSW |
18 |
34,761,515 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2143:Kif20a
|
UTSW |
18 |
34,758,657 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2144:Kif20a
|
UTSW |
18 |
34,758,657 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4231:Kif20a
|
UTSW |
18 |
34,765,091 (GRCm39) |
missense |
probably benign |
|
|
R4372:Kif20a
|
UTSW |
18 |
34,762,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Kif20a
|
UTSW |
18 |
34,764,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:Kif20a
|
UTSW |
18 |
34,765,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Kif20a
|
UTSW |
18 |
34,763,678 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5867:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5869:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5949:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5958:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5959:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5967:Kif20a
|
UTSW |
18 |
34,763,580 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5969:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6175:Kif20a
|
UTSW |
18 |
34,761,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6490:Kif20a
|
UTSW |
18 |
34,762,543 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6694:Kif20a
|
UTSW |
18 |
34,758,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6866:Kif20a
|
UTSW |
18 |
34,761,546 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7129:Kif20a
|
UTSW |
18 |
34,765,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7217:Kif20a
|
UTSW |
18 |
34,762,613 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7397:Kif20a
|
UTSW |
18 |
34,760,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Kif20a
|
UTSW |
18 |
34,758,591 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8302:Kif20a
|
UTSW |
18 |
34,765,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Kif20a
|
UTSW |
18 |
34,761,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8325:Kif20a
|
UTSW |
18 |
34,759,975 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8697:Kif20a
|
UTSW |
18 |
34,761,584 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9022:Kif20a
|
UTSW |
18 |
34,760,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9331:Kif20a
|
UTSW |
18 |
34,762,562 (GRCm39) |
nonsense |
probably null |
|
|
R9345:Kif20a
|
UTSW |
18 |
34,759,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9716:Kif20a
|
UTSW |
18 |
34,762,228 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0027:Kif20a
|
UTSW |
18 |
34,758,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation