Incidental Mutation 'IGL02039:Kif5a'
ID |
184633 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kif5a
|
Ensembl Gene |
ENSMUSG00000074657 |
Gene Name |
kinesin family member 5A |
Synonyms |
Kif5, Kns, Khc, D10Bwg0738e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02039
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127061565-127099217 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127069736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 830
(I830V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099172]
[ENSMUST00000217895]
[ENSMUST00000218298]
|
AlphaFold |
P33175 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099172
AA Change: I830V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096775 Gene: ENSMUSG00000074657 AA Change: I830V
Domain | Start | End | E-Value | Type |
KISc
|
7 |
335 |
7.38e-173 |
SMART |
low complexity region
|
340 |
362 |
N/A |
INTRINSIC |
coiled coil region
|
408 |
539 |
N/A |
INTRINSIC |
low complexity region
|
591 |
603 |
N/A |
INTRINSIC |
coiled coil region
|
632 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
822 |
905 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217895
AA Change: I830V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218298
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous inactivation of this gene causes complete neonatal lethality. Homozygotes delivered by caesarian section are alive at E18.5 but usually die within minutes after birth, exhibiting an abnormal breathing pattern, atelectasis, cyanosis, and abnormal motor neuron morphology in the spinal cord. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,247,193 (GRCm39) |
Y2313* |
probably null |
Het |
Arhgef12 |
A |
G |
9: 42,883,563 (GRCm39) |
I1323T |
probably benign |
Het |
C87436 |
A |
G |
6: 86,430,677 (GRCm39) |
M366V |
probably benign |
Het |
Cep290 |
T |
C |
10: 100,350,464 (GRCm39) |
|
probably null |
Het |
Cpsf3 |
T |
C |
12: 21,351,457 (GRCm39) |
M326T |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,649,482 (GRCm39) |
V64A |
probably damaging |
Het |
Csnka2ip |
G |
A |
16: 64,298,957 (GRCm39) |
S25F |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,524,769 (GRCm39) |
F168L |
possibly damaging |
Het |
Dhx8 |
T |
C |
11: 101,654,853 (GRCm39) |
|
probably null |
Het |
Dnah2 |
T |
A |
11: 69,390,038 (GRCm39) |
I736F |
probably damaging |
Het |
Erf |
T |
C |
7: 24,943,969 (GRCm39) |
E454G |
possibly damaging |
Het |
Flnc |
T |
C |
6: 29,450,718 (GRCm39) |
V1482A |
probably benign |
Het |
Fmn1 |
T |
C |
2: 113,195,425 (GRCm39) |
L375P |
unknown |
Het |
Foxm1 |
T |
C |
6: 128,346,323 (GRCm39) |
Y85H |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,339,600 (GRCm39) |
E631G |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,070,895 (GRCm39) |
D265G |
probably damaging |
Het |
Gprc5c |
C |
T |
11: 114,755,312 (GRCm39) |
Q330* |
probably null |
Het |
Grin1 |
C |
T |
2: 25,195,354 (GRCm39) |
V246M |
probably damaging |
Het |
Ifitm3 |
C |
A |
7: 140,590,563 (GRCm39) |
|
probably benign |
Het |
Igdcc3 |
G |
A |
9: 65,091,162 (GRCm39) |
V648I |
probably benign |
Het |
Ighv5-2 |
A |
G |
12: 113,542,214 (GRCm39) |
I87T |
probably benign |
Het |
Imp4 |
G |
A |
1: 34,482,849 (GRCm39) |
|
probably null |
Het |
Ino80 |
T |
C |
2: 119,210,554 (GRCm39) |
N1327D |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,424,901 (GRCm39) |
Y4696C |
possibly damaging |
Het |
Nrl |
T |
C |
14: 55,759,567 (GRCm39) |
E120G |
probably benign |
Het |
Nsmaf |
T |
A |
4: 6,424,995 (GRCm39) |
|
probably benign |
Het |
Nup35 |
T |
C |
2: 80,473,119 (GRCm39) |
M64T |
probably benign |
Het |
Nxpe2 |
T |
A |
9: 48,230,959 (GRCm39) |
N470I |
probably benign |
Het |
Oga |
A |
T |
19: 45,762,142 (GRCm39) |
V237E |
probably damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,340 (GRCm39) |
I81N |
possibly damaging |
Het |
Or9i1 |
C |
T |
19: 13,840,083 (GRCm39) |
Q309* |
probably null |
Het |
Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,155,032 (GRCm39) |
T287A |
probably benign |
Het |
Pkd2l2 |
G |
T |
18: 34,568,421 (GRCm39) |
|
probably null |
Het |
Pola2 |
A |
T |
19: 5,998,497 (GRCm39) |
I355N |
probably damaging |
Het |
Pp2d1 |
T |
A |
17: 53,823,022 (GRCm39) |
R15* |
probably null |
Het |
Prpf40a |
T |
C |
2: 53,034,815 (GRCm39) |
D749G |
probably damaging |
Het |
Rhoh |
T |
C |
5: 66,049,981 (GRCm39) |
S84P |
probably damaging |
Het |
Slc12a7 |
T |
C |
13: 73,957,213 (GRCm39) |
|
probably null |
Het |
Slc37a2 |
A |
G |
9: 37,144,980 (GRCm39) |
I454T |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,693,537 (GRCm39) |
D28G |
probably damaging |
Het |
Socs4 |
T |
C |
14: 47,527,650 (GRCm39) |
I195T |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,123,980 (GRCm39) |
|
probably null |
Het |
Thbd |
T |
C |
2: 148,248,462 (GRCm39) |
T469A |
probably benign |
Het |
Thoc5 |
T |
C |
11: 4,872,027 (GRCm39) |
|
probably null |
Het |
Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
Vmn1r59 |
T |
C |
7: 5,457,380 (GRCm39) |
S127G |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,610 (GRCm39) |
E408G |
probably damaging |
Het |
Yars1 |
A |
T |
4: 129,109,052 (GRCm39) |
I428F |
probably damaging |
Het |
Zglp1 |
T |
C |
9: 20,978,335 (GRCm39) |
E14G |
possibly damaging |
Het |
|
Other mutations in Kif5a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01011:Kif5a
|
APN |
10 |
127,075,065 (GRCm39) |
missense |
probably benign |
|
IGL01405:Kif5a
|
APN |
10 |
127,081,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01637:Kif5a
|
APN |
10 |
127,081,237 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01894:Kif5a
|
APN |
10 |
127,098,648 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01978:Kif5a
|
APN |
10 |
127,081,608 (GRCm39) |
missense |
probably benign |
|
IGL02052:Kif5a
|
APN |
10 |
127,079,368 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Kif5a
|
APN |
10 |
127,078,565 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02352:Kif5a
|
APN |
10 |
127,079,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02359:Kif5a
|
APN |
10 |
127,079,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02834:Kif5a
|
APN |
10 |
127,081,625 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03101:Kif5a
|
APN |
10 |
127,071,478 (GRCm39) |
unclassified |
probably benign |
|
brittany
|
UTSW |
10 |
127,084,123 (GRCm39) |
missense |
probably damaging |
1.00 |
spaniel
|
UTSW |
10 |
127,066,447 (GRCm39) |
missense |
probably benign |
0.00 |
R0463:Kif5a
|
UTSW |
10 |
127,071,521 (GRCm39) |
missense |
probably benign |
0.00 |
R0790:Kif5a
|
UTSW |
10 |
127,081,878 (GRCm39) |
intron |
probably benign |
|
R1070:Kif5a
|
UTSW |
10 |
127,081,275 (GRCm39) |
missense |
probably benign |
0.00 |
R1404:Kif5a
|
UTSW |
10 |
127,081,311 (GRCm39) |
missense |
probably benign |
0.12 |
R1404:Kif5a
|
UTSW |
10 |
127,081,311 (GRCm39) |
missense |
probably benign |
0.12 |
R1502:Kif5a
|
UTSW |
10 |
127,081,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Kif5a
|
UTSW |
10 |
127,077,879 (GRCm39) |
missense |
probably benign |
0.03 |
R1837:Kif5a
|
UTSW |
10 |
127,072,684 (GRCm39) |
nonsense |
probably null |
|
R1838:Kif5a
|
UTSW |
10 |
127,072,684 (GRCm39) |
nonsense |
probably null |
|
R2012:Kif5a
|
UTSW |
10 |
127,075,044 (GRCm39) |
missense |
probably benign |
|
R2072:Kif5a
|
UTSW |
10 |
127,081,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R2073:Kif5a
|
UTSW |
10 |
127,081,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R2074:Kif5a
|
UTSW |
10 |
127,081,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R2075:Kif5a
|
UTSW |
10 |
127,081,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R2440:Kif5a
|
UTSW |
10 |
127,067,205 (GRCm39) |
missense |
probably benign |
0.34 |
R3157:Kif5a
|
UTSW |
10 |
127,081,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R3688:Kif5a
|
UTSW |
10 |
127,078,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R3740:Kif5a
|
UTSW |
10 |
127,079,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R4782:Kif5a
|
UTSW |
10 |
127,066,823 (GRCm39) |
missense |
probably benign |
0.01 |
R5049:Kif5a
|
UTSW |
10 |
127,075,708 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5723:Kif5a
|
UTSW |
10 |
127,066,898 (GRCm39) |
frame shift |
probably null |
|
R5764:Kif5a
|
UTSW |
10 |
127,066,898 (GRCm39) |
frame shift |
probably null |
|
R5838:Kif5a
|
UTSW |
10 |
127,081,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5903:Kif5a
|
UTSW |
10 |
127,066,447 (GRCm39) |
missense |
probably benign |
0.00 |
R6299:Kif5a
|
UTSW |
10 |
127,069,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R6384:Kif5a
|
UTSW |
10 |
127,078,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R6629:Kif5a
|
UTSW |
10 |
127,084,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R7463:Kif5a
|
UTSW |
10 |
127,079,593 (GRCm39) |
missense |
probably damaging |
0.97 |
R7558:Kif5a
|
UTSW |
10 |
127,083,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R7567:Kif5a
|
UTSW |
10 |
127,073,248 (GRCm39) |
missense |
probably benign |
0.00 |
R7733:Kif5a
|
UTSW |
10 |
127,072,609 (GRCm39) |
missense |
probably benign |
0.00 |
R7853:Kif5a
|
UTSW |
10 |
127,071,537 (GRCm39) |
nonsense |
probably null |
|
R7869:Kif5a
|
UTSW |
10 |
127,079,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R7896:Kif5a
|
UTSW |
10 |
127,077,873 (GRCm39) |
missense |
probably benign |
|
R8085:Kif5a
|
UTSW |
10 |
127,075,178 (GRCm39) |
missense |
probably benign |
0.00 |
R8426:Kif5a
|
UTSW |
10 |
127,067,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R8750:Kif5a
|
UTSW |
10 |
127,083,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R9206:Kif5a
|
UTSW |
10 |
127,079,227 (GRCm39) |
critical splice donor site |
probably null |
|
R9497:Kif5a
|
UTSW |
10 |
127,079,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R9747:Kif5a
|
UTSW |
10 |
127,074,622 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Kif5a
|
UTSW |
10 |
127,072,836 (GRCm39) |
nonsense |
probably null |
|
Z1177:Kif5a
|
UTSW |
10 |
127,065,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |