Incidental Mutation 'R7463:Kif5a'
| ID |
578572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif5a
|
| Ensembl Gene |
ENSMUSG00000074657 |
| Gene Name |
kinesin family member 5A |
| Synonyms |
Kif5, Kns, Khc, D10Bwg0738e |
| MMRRC Submission |
045537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7463 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127061565-127099217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127079593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 248
(V248A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099172]
[ENSMUST00000217895]
[ENSMUST00000218298]
|
| AlphaFold |
P33175 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099172
AA Change: V248A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: V248A
| 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 |
probably damaging
Transcript: ENSMUST00000217895
AA Change: V248A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218298
|
| Meta Mutation Damage Score |
0.2851 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,634,698 (GRCm39) |
V435E |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,878,399 (GRCm39) |
D413G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,310,140 (GRCm39) |
D727V |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,583,452 (GRCm39) |
Q309* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,363,533 (GRCm39) |
C43* |
probably null |
Het |
| Bpifc |
T |
C |
10: 85,815,198 (GRCm39) |
E256G |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,913,396 (GRCm39) |
S296T |
probably benign |
Het |
| Carmil3 |
C |
T |
14: 55,739,853 (GRCm39) |
P980L |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,640,408 (GRCm39) |
M1K |
probably null |
Het |
| Cpt2 |
A |
T |
4: 107,765,354 (GRCm39) |
F137I |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,094 (GRCm39) |
I112V |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,831,402 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,650,374 (GRCm39) |
I90F |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,769,761 (GRCm39) |
A457V |
possibly damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,026 (GRCm39) |
E318G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,052,038 (GRCm39) |
E213G |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,878,316 (GRCm39) |
H238R |
probably damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,232 (GRCm39) |
I556L |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,823,521 (GRCm39) |
V1147M |
possibly damaging |
Het |
| Egf |
G |
T |
3: 129,533,664 (GRCm39) |
Q59K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,623,662 (GRCm39) |
Y109* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,445,450 (GRCm39) |
Y573* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,083,954 (GRCm39) |
L503P |
probably damaging |
Het |
| Gnptab |
T |
G |
10: 88,267,251 (GRCm39) |
I447M |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,783,448 (GRCm39) |
D253N |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,929,532 (GRCm39) |
T958A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,497 (GRCm39) |
L67Q |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,920,389 (GRCm39) |
I88T |
probably damaging |
Het |
| Lhx2 |
G |
A |
2: 38,241,858 (GRCm39) |
E25K |
possibly damaging |
Het |
| Mex3d |
C |
T |
10: 80,217,532 (GRCm39) |
G562R |
|
Het |
| Myom2 |
A |
T |
8: 15,167,679 (GRCm39) |
Y1088F |
probably null |
Het |
| Ncapg |
T |
A |
5: 45,851,434 (GRCm39) |
|
probably null |
Het |
| Nudc |
A |
C |
4: 133,261,714 (GRCm39) |
V190G |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,013,686 (GRCm39) |
R1054S |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,648,168 (GRCm39) |
W54R |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,860 (GRCm39) |
V221A |
probably benign |
Het |
| Or2d4 |
A |
T |
7: 106,543,380 (GRCm39) |
V276E |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,689 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or56a5 |
T |
A |
7: 104,793,144 (GRCm39) |
M119L |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,182 (GRCm39) |
M305V |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,338,007 (GRCm39) |
R891S |
possibly damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,467,602 (GRCm39) |
S1873L |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,878,340 (GRCm39) |
K632E |
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,480 (GRCm39) |
A517T |
probably damaging |
Het |
| Ptgr2 |
A |
T |
12: 84,339,072 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Racgap1 |
T |
A |
15: 99,540,839 (GRCm39) |
T4S |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,404 (GRCm39) |
H941R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,308,433 (GRCm39) |
H312R |
probably damaging |
Het |
| Rnf166 |
T |
A |
8: 123,194,726 (GRCm39) |
H208L |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,549 (GRCm39) |
E314G |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,086,295 (GRCm39) |
S999P |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tor1aip1 |
A |
T |
1: 155,883,355 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,750,804 (GRCm39) |
E3415V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,896,886 (GRCm39) |
N78Y |
probably damaging |
Het |
| Wdr11 |
A |
T |
7: 129,208,810 (GRCm39) |
D427V |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,003,449 (GRCm39) |
|
probably benign |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
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 |
|
|
IGL02039:Kif5a
|
APN |
10 |
127,069,736 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCTAGAGCAGGAGCAGACC -3'
(R):5'- TGCCGAATCCTAGAGTGCTTG -3'
Sequencing Primer
(F):5'- CAGACCGTGAATGTGAAAATGATTTC -3'
(R):5'- TGGCAGCCACCAATTCG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation