Incidental Mutation 'R0088:Kif2a'
| ID |
20027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif2a
|
| Ensembl Gene |
ENSMUSG00000021693 |
| Gene Name |
kinesin family member 2A |
| Synonyms |
Kns2, M-kinesin, Kif2 |
| MMRRC Submission |
038375-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
107095504-107158634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107111940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 478
(A478V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022204]
[ENSMUST00000117423]
[ENSMUST00000117539]
[ENSMUST00000122233]
[ENSMUST00000159772]
|
| AlphaFold |
P28740 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022204
AA Change: A505V
PolyPhen 2
Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693
AA Change: A505V
| 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 |
possibly damaging
Transcript: ENSMUST00000117423
AA Change: A459V
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693
AA Change: A459V
| 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 benign
Transcript: ENSMUST00000117539
AA Change: A489V
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113361
Gene: ENSMUSG00000021693
AA Change: A489V
| 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: A478V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693
AA Change: A478V
| 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 |
possibly damaging
Transcript: ENSMUST00000159772
AA Change: A505V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: A505V
| 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
|
| Meta Mutation Damage Score |
0.1837 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
82% (32/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
| Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
| Bnc1 |
T |
G |
7: 81,628,246 (GRCm39) |
N39T |
possibly damaging |
Het |
| Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,307,741 (GRCm39) |
E5G |
probably damaging |
Het |
| Eqtn |
T |
C |
4: 94,808,227 (GRCm39) |
T192A |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
| Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,340 (GRCm39) |
S93G |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
| Ndel1 |
A |
C |
11: 68,724,246 (GRCm39) |
S242R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
| Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
| Pklr |
A |
G |
3: 89,049,215 (GRCm39) |
Y187C |
probably damaging |
Het |
| Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
| Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
| Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
| Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttyh2 |
G |
T |
11: 114,581,081 (GRCm39) |
G107C |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,904,199 (GRCm39) |
D540G |
probably benign |
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 |
|
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 |
|
R5797:Kif2a
|
UTSW |
13 |
107,111,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCTGCCATGTAATACTTTCCACCAAA -3'
(R):5'- TGAACACTGGTCATGTTTTCAGGCTTT -3'
Sequencing Primer
(F):5'- CTTTCCACCAAATTATTAGGGACAC -3'
(R):5'- gaggcagaggcaggcag -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation