Incidental Mutation 'IGL02273:Kif9'
ID |
287251 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kif9
|
Ensembl Gene |
ENSMUSG00000032489 |
Gene Name |
kinesin family member 9 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
IGL02273
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110339538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 460
(K460M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
|
AlphaFold |
Q9WV04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061155
AA Change: K460M
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000057896 Gene: ENSMUSG00000032489 AA Change: K460M
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
7e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084952
AA Change: K460M
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000082016 Gene: ENSMUSG00000032489 AA Change: K460M
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
7e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197248
AA Change: K460M
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142734 Gene: ENSMUSG00000032489 AA Change: K460M
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
6e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198043
AA Change: K460M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142689 Gene: ENSMUSG00000032489 AA Change: K460M
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
476 |
5e-14 |
BLAST |
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably damaging |
Het |
|
Other mutations in Kif9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01630:Kif9
|
APN |
9 |
110,314,138 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02818:Kif9
|
APN |
9 |
110,314,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Kif9
|
UTSW |
9 |
110,348,679 (GRCm39) |
missense |
probably benign |
0.23 |
R0034:Kif9
|
UTSW |
9 |
110,348,679 (GRCm39) |
missense |
probably benign |
0.23 |
R0047:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably benign |
0.05 |
R0047:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably benign |
0.05 |
R0137:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Kif9
|
UTSW |
9 |
110,340,408 (GRCm39) |
missense |
probably benign |
0.22 |
R1503:Kif9
|
UTSW |
9 |
110,339,506 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1657:Kif9
|
UTSW |
9 |
110,319,034 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1826:Kif9
|
UTSW |
9 |
110,346,701 (GRCm39) |
missense |
probably benign |
0.34 |
R1856:Kif9
|
UTSW |
9 |
110,346,787 (GRCm39) |
missense |
probably null |
1.00 |
R2076:Kif9
|
UTSW |
9 |
110,314,100 (GRCm39) |
splice site |
probably null |
|
R3407:Kif9
|
UTSW |
9 |
110,348,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R4247:Kif9
|
UTSW |
9 |
110,325,027 (GRCm39) |
critical splice donor site |
probably null |
|
R4487:Kif9
|
UTSW |
9 |
110,323,552 (GRCm39) |
missense |
probably null |
1.00 |
R4515:Kif9
|
UTSW |
9 |
110,318,935 (GRCm39) |
missense |
probably benign |
0.38 |
R4880:Kif9
|
UTSW |
9 |
110,330,703 (GRCm39) |
missense |
probably damaging |
0.98 |
R5024:Kif9
|
UTSW |
9 |
110,312,161 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5093:Kif9
|
UTSW |
9 |
110,318,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R5181:Kif9
|
UTSW |
9 |
110,350,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Kif9
|
UTSW |
9 |
110,319,012 (GRCm39) |
missense |
probably damaging |
0.99 |
R5379:Kif9
|
UTSW |
9 |
110,350,371 (GRCm39) |
missense |
probably benign |
0.00 |
R5628:Kif9
|
UTSW |
9 |
110,343,621 (GRCm39) |
nonsense |
probably null |
|
R5653:Kif9
|
UTSW |
9 |
110,353,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Kif9
|
UTSW |
9 |
110,339,532 (GRCm39) |
missense |
probably benign |
|
R5758:Kif9
|
UTSW |
9 |
110,318,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R5986:Kif9
|
UTSW |
9 |
110,319,094 (GRCm39) |
missense |
probably benign |
0.05 |
R6103:Kif9
|
UTSW |
9 |
110,318,917 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6247:Kif9
|
UTSW |
9 |
110,317,612 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6255:Kif9
|
UTSW |
9 |
110,346,902 (GRCm39) |
splice site |
probably null |
|
R6991:Kif9
|
UTSW |
9 |
110,323,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R7113:Kif9
|
UTSW |
9 |
110,335,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R7459:Kif9
|
UTSW |
9 |
110,348,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Kif9
|
UTSW |
9 |
110,350,421 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7892:Kif9
|
UTSW |
9 |
110,343,682 (GRCm39) |
missense |
not run |
|
R8050:Kif9
|
UTSW |
9 |
110,348,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R8370:Kif9
|
UTSW |
9 |
110,317,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R8549:Kif9
|
UTSW |
9 |
110,343,487 (GRCm39) |
splice site |
probably null |
|
R8751:Kif9
|
UTSW |
9 |
110,330,724 (GRCm39) |
missense |
probably benign |
0.03 |
R8830:Kif9
|
UTSW |
9 |
110,353,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Kif9
|
UTSW |
9 |
110,346,710 (GRCm39) |
missense |
probably benign |
0.01 |
R9519:Kif9
|
UTSW |
9 |
110,350,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R9605:Kif9
|
UTSW |
9 |
110,346,710 (GRCm39) |
missense |
probably benign |
0.01 |
R9776:Kif9
|
UTSW |
9 |
110,350,398 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |