Incidental Mutation 'IGL02818:Kif9'
ID |
360878 |
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 # |
IGL02818
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110314217 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 76
(Y76N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
[ENSMUST00000198858]
|
AlphaFold |
Q9WV04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061155
AA Change: Y70N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000057896 Gene: ENSMUSG00000032489 AA Change: Y70N
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 damaging
Transcript: ENSMUST00000084952
AA Change: Y70N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000082016 Gene: ENSMUSG00000032489 AA Change: Y70N
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 damaging
Transcript: ENSMUST00000197248
AA Change: Y70N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142734 Gene: ENSMUSG00000032489 AA Change: Y70N
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: Y70N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142689 Gene: ENSMUSG00000032489 AA Change: Y70N
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198858
AA Change: Y76N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142888 Gene: ENSMUSG00000032489 AA Change: Y76N
Domain | Start | End | E-Value | Type |
KISc
|
9 |
144 |
6.7e-7 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,519,326 (GRCm39) |
F653S |
probably benign |
Het |
Acsm2 |
A |
G |
7: 119,172,804 (GRCm39) |
|
probably null |
Het |
Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
Ankfn1 |
G |
A |
11: 89,429,292 (GRCm39) |
H31Y |
probably benign |
Het |
BC016579 |
A |
T |
16: 45,449,865 (GRCm39) |
S184R |
probably damaging |
Het |
Cd101 |
A |
G |
3: 100,919,245 (GRCm39) |
L619P |
probably damaging |
Het |
Clec14a |
A |
T |
12: 58,314,888 (GRCm39) |
C245S |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,103,521 (GRCm39) |
C247R |
probably damaging |
Het |
Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,169,496 (GRCm39) |
S637P |
possibly damaging |
Het |
Dhx40 |
A |
T |
11: 86,690,331 (GRCm39) |
I230K |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,329,968 (GRCm39) |
Y3271H |
probably damaging |
Het |
Efcab5 |
A |
T |
11: 76,996,174 (GRCm39) |
I1129N |
probably damaging |
Het |
Gaa |
G |
T |
11: 119,167,674 (GRCm39) |
A445S |
probably damaging |
Het |
Gldc |
A |
G |
19: 30,113,909 (GRCm39) |
S498P |
probably damaging |
Het |
Gm973 |
T |
C |
1: 59,580,634 (GRCm39) |
|
probably null |
Het |
Hpdl |
T |
C |
4: 116,677,439 (GRCm39) |
I341V |
probably damaging |
Het |
Il23r |
A |
G |
6: 67,463,078 (GRCm39) |
|
probably null |
Het |
Lct |
T |
G |
1: 128,227,905 (GRCm39) |
E1196A |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,392,132 (GRCm39) |
I1098V |
possibly damaging |
Het |
Mroh1 |
A |
G |
15: 76,316,601 (GRCm39) |
|
probably null |
Het |
Nmrk1 |
T |
C |
19: 18,618,623 (GRCm39) |
L102P |
probably damaging |
Het |
Nudcd3 |
A |
T |
11: 6,100,635 (GRCm39) |
|
probably benign |
Het |
Ogdh |
A |
G |
11: 6,298,270 (GRCm39) |
T603A |
probably benign |
Het |
Or12j2 |
A |
T |
7: 139,916,519 (GRCm39) |
Y248F |
possibly damaging |
Het |
Or8k38 |
T |
A |
2: 86,488,128 (GRCm39) |
I225F |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,158,626 (GRCm39) |
Y542C |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,545,862 (GRCm39) |
W88R |
probably damaging |
Het |
Ppp1r1b |
C |
T |
11: 98,242,096 (GRCm39) |
T21I |
possibly damaging |
Het |
Srebf2 |
C |
A |
15: 82,069,575 (GRCm39) |
H706N |
probably damaging |
Het |
Stradb |
T |
C |
1: 59,019,121 (GRCm39) |
V14A |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
Tnn |
A |
T |
1: 159,943,848 (GRCm39) |
S988R |
possibly damaging |
Het |
Trpm6 |
C |
A |
19: 18,843,621 (GRCm39) |
Q1662K |
probably benign |
Het |
Utp3 |
T |
A |
5: 88,703,267 (GRCm39) |
Y265* |
probably null |
Het |
Vwf |
A |
G |
6: 125,640,511 (GRCm39) |
T2316A |
probably benign |
Het |
Zfp90 |
T |
C |
8: 107,150,841 (GRCm39) |
F185L |
probably benign |
Het |
Zwilch |
G |
A |
9: 64,057,509 (GRCm39) |
T395I |
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 |
IGL02273:Kif9
|
APN |
9 |
110,339,538 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-12-18 |