Incidental Mutation 'R5797:Kif2a'
| ID |
447291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif2a
|
| Ensembl Gene |
ENSMUSG00000021693 |
| Gene Name |
kinesin family member 2A |
| Synonyms |
Kns2, M-kinesin, Kif2 |
| MMRRC Submission |
043209-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5797 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
107095504-107158634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107111884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 524
(C524S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022204]
[ENSMUST00000117423]
[ENSMUST00000117539]
[ENSMUST00000122233]
[ENSMUST00000159772]
|
| AlphaFold |
P28740 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022204
AA Change: C524S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693
AA Change: C524S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
183 |
N/A |
INTRINSIC |
|
KISc
|
220 |
560 |
6.56e-147 |
SMART |
|
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
|
coiled coil region
|
660 |
698 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117423
AA Change: C478S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693
AA Change: C478S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
137 |
N/A |
INTRINSIC |
|
KISc
|
174 |
514 |
6.56e-147 |
SMART |
|
low complexity region
|
567 |
579 |
N/A |
INTRINSIC |
|
coiled coil region
|
614 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117539
AA Change: C508S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113361
Gene: ENSMUSG00000021693
AA Change: C508S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
167 |
N/A |
INTRINSIC |
|
KISc
|
204 |
544 |
6.56e-147 |
SMART |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122233
AA Change: C497S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693
AA Change: C497S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
156 |
N/A |
INTRINSIC |
|
KISc
|
193 |
533 |
4.33e-147 |
SMART |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
636 |
N/A |
INTRINSIC |
|
coiled coil region
|
671 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159772
AA Change: C524S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: C524S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
183 |
N/A |
INTRINSIC |
|
KISc
|
220 |
560 |
4.33e-147 |
SMART |
|
low complexity region
|
569 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
663 |
N/A |
INTRINSIC |
|
coiled coil region
|
698 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162845
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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 is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display neonatal lethality, abnormal lamination of the cerebral cortex, hippocampus and cerebellum, impaired neuronal migration, and abnormal axon outgrowth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
C |
3: 40,887,986 (GRCm39) |
F277L |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,462,505 (GRCm39) |
V170A |
probably damaging |
Het |
| Amz2 |
G |
T |
11: 109,317,905 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,412,074 (GRCm39) |
Y65C |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,191,844 (GRCm39) |
I356V |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,803,438 (GRCm39) |
T1535S |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,716,206 (GRCm39) |
W52R |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 106,941,404 (GRCm39) |
E276D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,927,888 (GRCm39) |
N78S |
probably damaging |
Het |
| Dmap1 |
A |
T |
4: 117,532,677 (GRCm39) |
V333E |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,898,450 (GRCm39) |
E3744G |
probably benign |
Het |
| Efcab6 |
C |
T |
15: 83,808,478 (GRCm39) |
C828Y |
possibly damaging |
Het |
| Fam227b |
A |
C |
2: 125,849,254 (GRCm39) |
I326S |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,086,463 (GRCm39) |
H604Q |
probably damaging |
Het |
| Fshr |
T |
G |
17: 89,318,503 (GRCm39) |
N129T |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,170 (GRCm39) |
R401G |
probably damaging |
Het |
| Gm572 |
G |
A |
4: 148,751,255 (GRCm39) |
M209I |
probably benign |
Het |
| Gne |
G |
A |
4: 44,060,030 (GRCm39) |
T121M |
probably damaging |
Het |
| Gnmt |
T |
C |
17: 47,037,305 (GRCm39) |
N160D |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,032,619 (GRCm39) |
Y1125C |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,759 (GRCm39) |
R181H |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,410,004 (GRCm39) |
D214G |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,405,319 (GRCm39) |
T909N |
unknown |
Het |
| Myh13 |
T |
A |
11: 67,225,828 (GRCm39) |
D335E |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,834,592 (GRCm39) |
E884G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
| Nxpe4 |
T |
A |
9: 48,307,838 (GRCm39) |
I314N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,228,590 (GRCm39) |
E1525G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,811,615 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,555,698 (GRCm39) |
Y2157* |
probably null |
Het |
| Scd3 |
T |
C |
19: 44,203,950 (GRCm39) |
I46T |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,482,476 (GRCm39) |
M279K |
probably damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,746,829 (GRCm39) |
V671A |
probably benign |
Het |
| Slitrk3 |
T |
A |
3: 72,955,962 (GRCm39) |
T937S |
probably damaging |
Het |
| Sncaip |
A |
T |
18: 53,031,276 (GRCm39) |
T442S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
| Trmt9b |
A |
T |
8: 36,965,569 (GRCm39) |
K30* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,233,736 (GRCm39) |
C825* |
probably null |
Het |
|
| Other mutations in Kif2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00934:Kif2a
|
APN |
13 |
107,105,301 (GRCm39) |
splice site |
probably benign |
|
|
IGL01640:Kif2a
|
APN |
13 |
107,111,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02524:Kif2a
|
APN |
13 |
107,100,863 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0088:Kif2a
|
UTSW |
13 |
107,111,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Kif2a
|
UTSW |
13 |
107,113,158 (GRCm39) |
splice site |
probably benign |
|
|
R1233:Kif2a
|
UTSW |
13 |
107,123,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Kif2a
|
UTSW |
13 |
107,130,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1772:Kif2a
|
UTSW |
13 |
107,114,640 (GRCm39) |
intron |
probably benign |
|
|
R1900:Kif2a
|
UTSW |
13 |
107,113,503 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1932:Kif2a
|
UTSW |
13 |
107,114,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2364:Kif2a
|
UTSW |
13 |
107,113,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Kif2a
|
UTSW |
13 |
107,113,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Kif2a
|
UTSW |
13 |
107,113,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Kif2a
|
UTSW |
13 |
107,098,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Kif2a
|
UTSW |
13 |
107,130,432 (GRCm39) |
splice site |
probably null |
1.00 |
|
R5761:Kif2a
|
UTSW |
13 |
107,098,672 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6812:Kif2a
|
UTSW |
13 |
107,106,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7025:Kif2a
|
UTSW |
13 |
107,119,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Kif2a
|
UTSW |
13 |
107,124,490 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8679:Kif2a
|
UTSW |
13 |
107,116,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8972:Kif2a
|
UTSW |
13 |
107,115,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Kif2a
|
UTSW |
13 |
107,105,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9627:Kif2a
|
UTSW |
13 |
107,158,558 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9733:Kif2a
|
UTSW |
13 |
107,106,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCATGTAATACTTTCCAC -3'
(R):5'- GAATTTTCAGAGCTCATTAGGCC -3'
Sequencing Primer
(F):5'- CTTTCCACCAAATTATTAGGGACAC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation