Incidental Mutation 'R3970:Kif5c'
| ID |
310906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif5c
|
| Ensembl Gene |
ENSMUSG00000026764 |
| Gene Name |
kinesin family member 5C |
| Synonyms |
Khc |
| MMRRC Submission |
040938-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
49509310-49664790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49578756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 128
(E128G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028102]
|
| AlphaFold |
P28738 |
| PDB Structure |
Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-AlFx [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-VO4 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028102
AA Change: E128G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764
AA Change: E128G
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
6 |
335 |
2.8e-173 |
SMART |
|
low complexity region
|
340 |
357 |
N/A |
INTRINSIC |
|
coiled coil region
|
407 |
541 |
N/A |
INTRINSIC |
|
coiled coil region
|
592 |
803 |
N/A |
INTRINSIC |
|
coiled coil region
|
826 |
915 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4594 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| 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 kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homezygous for disruptions in this gene are viable, fertile, and of normal size. The brain is normal but slightly reduced in size with decreased numbers of motor neurons an somewhat more sensory nerves than normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,779 (GRCm39) |
M583T |
probably damaging |
Het |
| Actn4 |
T |
C |
7: 28,661,457 (GRCm39) |
K51R |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,821,898 (GRCm39) |
Y513C |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,219,699 (GRCm39) |
L34* |
probably null |
Het |
| Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,161,700 (GRCm39) |
N749D |
probably benign |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
| Cherp |
T |
C |
8: 73,223,795 (GRCm39) |
H196R |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
A |
T |
3: 113,890,838 (GRCm39) |
T392S |
unknown |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Csf2rb |
T |
C |
15: 78,225,667 (GRCm39) |
V286A |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
| Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,200,601 (GRCm39) |
L332P |
probably damaging |
Het |
| Nampt |
T |
A |
12: 32,883,095 (GRCm39) |
D93E |
probably benign |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,501,568 (GRCm39) |
A45E |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,488 (GRCm39) |
P4898L |
probably damaging |
Het |
| Or8c11 |
T |
C |
9: 38,289,222 (GRCm39) |
V15A |
probably damaging |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pcdh8 |
C |
T |
14: 80,007,706 (GRCm39) |
G286S |
possibly damaging |
Het |
| Pcdha2 |
C |
A |
18: 37,073,750 (GRCm39) |
Y460* |
probably null |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,583,728 (GRCm39) |
S125A |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,824,218 (GRCm39) |
E1566K |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,546,171 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
| Pramel4 |
A |
T |
4: 143,795,044 (GRCm39) |
N477I |
possibly damaging |
Het |
| Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
| Sema3g |
T |
C |
14: 30,948,478 (GRCm39) |
|
probably null |
Het |
| Sf3b1 |
G |
A |
1: 55,051,341 (GRCm39) |
R196* |
probably null |
Het |
| Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
| Slc6a7 |
A |
C |
18: 61,136,417 (GRCm39) |
L328R |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,714,750 (GRCm39) |
T139A |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,479,106 (GRCm39) |
I613N |
probably damaging |
Het |
| Tlk1 |
A |
G |
2: 70,546,996 (GRCm39) |
V695A |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,733,531 (GRCm39) |
D160G |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,236,684 (GRCm39) |
A84T |
probably damaging |
Het |
| Zfp219 |
T |
A |
14: 52,244,421 (GRCm39) |
Q541L |
probably benign |
Het |
|
| Other mutations in Kif5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Kif5c
|
APN |
2 |
49,584,828 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01432:Kif5c
|
APN |
2 |
49,591,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Kif5c
|
APN |
2 |
49,625,569 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02127:Kif5c
|
APN |
2 |
49,591,122 (GRCm39) |
splice site |
probably null |
|
|
IGL03088:Kif5c
|
APN |
2 |
49,634,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03379:Kif5c
|
APN |
2 |
49,591,104 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02988:Kif5c
|
UTSW |
2 |
49,509,729 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4131001:Kif5c
|
UTSW |
2 |
49,584,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4469001:Kif5c
|
UTSW |
2 |
49,631,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0017:Kif5c
|
UTSW |
2 |
49,622,725 (GRCm39) |
missense |
probably benign |
|
|
R0017:Kif5c
|
UTSW |
2 |
49,622,725 (GRCm39) |
missense |
probably benign |
|
|
R0116:Kif5c
|
UTSW |
2 |
49,642,251 (GRCm39) |
splice site |
probably benign |
|
|
R0550:Kif5c
|
UTSW |
2 |
49,648,924 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0760:Kif5c
|
UTSW |
2 |
49,578,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Kif5c
|
UTSW |
2 |
49,588,128 (GRCm39) |
unclassified |
probably benign |
|
|
R1015:Kif5c
|
UTSW |
2 |
49,634,377 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1758:Kif5c
|
UTSW |
2 |
49,613,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1786:Kif5c
|
UTSW |
2 |
49,648,817 (GRCm39) |
splice site |
probably benign |
|
|
R1828:Kif5c
|
UTSW |
2 |
49,570,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2130:Kif5c
|
UTSW |
2 |
49,648,817 (GRCm39) |
splice site |
probably benign |
|
|
R2132:Kif5c
|
UTSW |
2 |
49,648,817 (GRCm39) |
splice site |
probably benign |
|
|
R2237:Kif5c
|
UTSW |
2 |
49,584,020 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4439:Kif5c
|
UTSW |
2 |
49,578,737 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5260:Kif5c
|
UTSW |
2 |
49,625,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5318:Kif5c
|
UTSW |
2 |
49,561,840 (GRCm39) |
missense |
probably benign |
|
|
R5345:Kif5c
|
UTSW |
2 |
49,613,078 (GRCm39) |
missense |
probably benign |
|
|
R5490:Kif5c
|
UTSW |
2 |
49,648,870 (GRCm39) |
missense |
probably benign |
|
|
R5496:Kif5c
|
UTSW |
2 |
49,620,202 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5567:Kif5c
|
UTSW |
2 |
49,620,211 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5570:Kif5c
|
UTSW |
2 |
49,620,211 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6019:Kif5c
|
UTSW |
2 |
49,625,521 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6688:Kif5c
|
UTSW |
2 |
49,578,749 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7006:Kif5c
|
UTSW |
2 |
49,625,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7009:Kif5c
|
UTSW |
2 |
49,647,441 (GRCm39) |
missense |
probably benign |
|
|
R7081:Kif5c
|
UTSW |
2 |
49,631,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7372:Kif5c
|
UTSW |
2 |
49,648,671 (GRCm39) |
splice site |
probably null |
|
|
R7512:Kif5c
|
UTSW |
2 |
49,590,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Kif5c
|
UTSW |
2 |
49,591,105 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7764:Kif5c
|
UTSW |
2 |
49,639,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7764:Kif5c
|
UTSW |
2 |
49,617,973 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7904:Kif5c
|
UTSW |
2 |
49,591,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Kif5c
|
UTSW |
2 |
49,625,497 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8735:Kif5c
|
UTSW |
2 |
49,584,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8816:Kif5c
|
UTSW |
2 |
49,584,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9109:Kif5c
|
UTSW |
2 |
49,620,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Kif5c
|
UTSW |
2 |
49,620,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Kif5c
|
UTSW |
2 |
49,590,604 (GRCm39) |
nonsense |
probably null |
|
|
R9325:Kif5c
|
UTSW |
2 |
49,639,378 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9368:Kif5c
|
UTSW |
2 |
49,622,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9748:Kif5c
|
UTSW |
2 |
49,584,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACACTCAACTTGGAGTTTTACAG -3'
(R):5'- ATGTTCCTACTGCAAGCATCC -3'
Sequencing Primer
(F):5'- AAACGACATTGTTTGAAAAAGGC -3'
(R):5'- GTTCCTACTGCAAGCATCCCAAATG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation