Incidental Mutation 'IGL01365:Kif3a'
ID |
75916 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kif3a
|
Ensembl Gene |
ENSMUSG00000018395 |
Gene Name |
kinesin family member 3A |
Synonyms |
kinesin-II subunit, N-4 kinesin, Kif3, Kifl, Kns3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01365
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
53458206-53492794 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53484350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 486
(K486E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057330]
[ENSMUST00000118353]
[ENSMUST00000120613]
[ENSMUST00000130037]
[ENSMUST00000173744]
|
AlphaFold |
P28741 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057330
AA Change: K459E
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000056197 Gene: ENSMUSG00000018395 AA Change: K459E
Domain | Start | End | E-Value | Type |
KISc
|
12 |
353 |
9.79e-187 |
SMART |
coiled coil region
|
416 |
593 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118353
AA Change: K486E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113848 Gene: ENSMUSG00000018395 AA Change: K486E
Domain | Start | End | E-Value | Type |
KISc
|
12 |
353 |
9.79e-187 |
SMART |
low complexity region
|
365 |
418 |
N/A |
INTRINSIC |
coiled coil region
|
443 |
620 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120613
AA Change: K462E
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112782 Gene: ENSMUSG00000018395 AA Change: K462E
Domain | Start | End | E-Value | Type |
KISc
|
12 |
353 |
4.6e-189 |
SMART |
coiled coil region
|
354 |
383 |
N/A |
INTRINSIC |
coiled coil region
|
419 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130037
|
SMART Domains |
Protein: ENSMUSP00000116509 Gene: ENSMUSG00000018395
Domain | Start | End | E-Value | Type |
SCOP:d1cm5a_
|
5 |
88 |
2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173744
AA Change: K455E
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000133432 Gene: ENSMUSG00000018395 AA Change: K455E
Domain | Start | End | E-Value | Type |
KISc
|
12 |
353 |
9.79e-187 |
SMART |
low complexity region
|
365 |
406 |
N/A |
INTRINSIC |
low complexity region
|
462 |
473 |
N/A |
INTRINSIC |
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
low complexity region
|
498 |
526 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Nullizygous mutations result in embryonic lethality, failure to synthesize cilia in the embryonic node, randomization of left-right asymmetry and structural abnormalities of the neural tube, pericardium, branchial arches, and somites. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
T |
C |
10: 85,469,680 (GRCm39) |
V867A |
possibly damaging |
Het |
Adgre5 |
G |
T |
8: 84,450,518 (GRCm39) |
|
probably null |
Het |
Agtr1a |
A |
G |
13: 30,565,811 (GRCm39) |
Y292C |
probably damaging |
Het |
CK137956 |
A |
G |
4: 127,845,135 (GRCm39) |
S203P |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 18,860,576 (GRCm39) |
G390D |
probably damaging |
Het |
Cttnbp2nl |
T |
C |
3: 104,912,346 (GRCm39) |
T513A |
probably damaging |
Het |
Dppa2 |
A |
G |
16: 48,134,276 (GRCm39) |
K67R |
possibly damaging |
Het |
Lmnb2 |
G |
T |
10: 80,740,818 (GRCm39) |
Q151K |
probably benign |
Het |
Lmtk3 |
T |
A |
7: 45,440,331 (GRCm39) |
L223Q |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,937,449 (GRCm39) |
I901T |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,284,962 (GRCm39) |
Y3624C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,216,089 (GRCm39) |
Y428* |
probably null |
Het |
Myb |
A |
G |
10: 21,028,401 (GRCm39) |
I154T |
probably benign |
Het |
Or14a256 |
T |
C |
7: 86,265,205 (GRCm39) |
Y216C |
probably damaging |
Het |
Parp9 |
C |
T |
16: 35,768,324 (GRCm39) |
T168I |
possibly damaging |
Het |
Pramel7 |
T |
C |
2: 87,321,757 (GRCm39) |
|
probably benign |
Het |
Ptar1 |
T |
A |
19: 23,683,165 (GRCm39) |
W140R |
probably damaging |
Het |
Sec14l2 |
G |
T |
11: 4,048,317 (GRCm39) |
D400E |
probably benign |
Het |
Setd3 |
A |
T |
12: 108,124,165 (GRCm39) |
Y175N |
probably damaging |
Het |
Slc5a8 |
C |
T |
10: 88,727,959 (GRCm39) |
|
probably benign |
Het |
Slc8a3 |
A |
G |
12: 81,362,150 (GRCm39) |
V223A |
probably damaging |
Het |
Srsf1 |
G |
T |
11: 87,940,007 (GRCm39) |
R173L |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,100,878 (GRCm39) |
|
probably null |
Het |
Tead2 |
T |
A |
7: 44,866,675 (GRCm39) |
D11E |
probably damaging |
Het |
Trappc12 |
T |
A |
12: 28,797,401 (GRCm39) |
I44F |
probably damaging |
Het |
Ttll9 |
T |
C |
2: 152,842,054 (GRCm39) |
Y303H |
possibly damaging |
Het |
Vmn1r28 |
T |
A |
6: 58,242,176 (GRCm39) |
N6K |
possibly damaging |
Het |
|
Other mutations in Kif3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01862:Kif3a
|
APN |
11 |
53,461,368 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02411:Kif3a
|
APN |
11 |
53,461,525 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Kif3a
|
UTSW |
11 |
53,469,941 (GRCm39) |
missense |
probably benign |
0.16 |
R0049:Kif3a
|
UTSW |
11 |
53,481,560 (GRCm39) |
splice site |
probably benign |
|
R0049:Kif3a
|
UTSW |
11 |
53,481,560 (GRCm39) |
splice site |
probably benign |
|
R0078:Kif3a
|
UTSW |
11 |
53,469,812 (GRCm39) |
missense |
probably benign |
0.22 |
R0131:Kif3a
|
UTSW |
11 |
53,477,743 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1079:Kif3a
|
UTSW |
11 |
53,461,408 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1168:Kif3a
|
UTSW |
11 |
53,489,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R1554:Kif3a
|
UTSW |
11 |
53,489,154 (GRCm39) |
missense |
probably damaging |
0.98 |
R1817:Kif3a
|
UTSW |
11 |
53,489,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R2022:Kif3a
|
UTSW |
11 |
53,461,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R2964:Kif3a
|
UTSW |
11 |
53,469,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R3861:Kif3a
|
UTSW |
11 |
53,488,805 (GRCm39) |
missense |
probably benign |
0.33 |
R3928:Kif3a
|
UTSW |
11 |
53,461,441 (GRCm39) |
missense |
probably benign |
0.02 |
R4553:Kif3a
|
UTSW |
11 |
53,469,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5158:Kif3a
|
UTSW |
11 |
53,479,578 (GRCm39) |
missense |
probably benign |
|
R5437:Kif3a
|
UTSW |
11 |
53,489,553 (GRCm39) |
missense |
probably damaging |
0.99 |
R6621:Kif3a
|
UTSW |
11 |
53,469,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R7028:Kif3a
|
UTSW |
11 |
53,477,733 (GRCm39) |
nonsense |
probably null |
|
R7384:Kif3a
|
UTSW |
11 |
53,469,681 (GRCm39) |
missense |
probably damaging |
0.99 |
R8182:Kif3a
|
UTSW |
11 |
53,485,133 (GRCm39) |
nonsense |
probably null |
|
R8493:Kif3a
|
UTSW |
11 |
53,489,627 (GRCm39) |
nonsense |
probably null |
|
R8971:Kif3a
|
UTSW |
11 |
53,474,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R9261:Kif3a
|
UTSW |
11 |
53,484,248 (GRCm39) |
small deletion |
probably benign |
|
R9577:Kif3a
|
UTSW |
11 |
53,475,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |