Incidental Mutation 'IGL01630:Kif9'
| ID |
92904 |
| 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 # |
IGL01630
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 110314138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 43
(R43S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
[ENSMUST00000198858]
|
| AlphaFold |
Q9WV04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061155
AA Change: R43S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: R43S
| 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: R43S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: R43S
| 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: R43S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: R43S
| 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 benign
Transcript: ENSMUST00000198043
AA Change: R43S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: R43S
| 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 benign
Transcript: ENSMUST00000198858
AA Change: R49S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489
AA Change: R49S
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,069,171 (GRCm39) |
T207A |
possibly damaging |
Het |
| Ak8 |
T |
A |
2: 28,602,291 (GRCm39) |
M75K |
probably benign |
Het |
| Aldh1a7 |
A |
T |
19: 20,673,693 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,879 (GRCm39) |
T154I |
probably damaging |
Het |
| Arrb2 |
A |
G |
11: 70,327,697 (GRCm39) |
I120M |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,049,437 (GRCm39) |
V535A |
probably benign |
Het |
| Cckbr |
G |
T |
7: 105,083,293 (GRCm39) |
W165C |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,564,648 (GRCm39) |
H1677Q |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,540,085 (GRCm39) |
F658S |
probably damaging |
Het |
| Gm5581 |
A |
T |
6: 131,145,259 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M3 |
A |
G |
17: 37,581,548 (GRCm39) |
E70G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,137,068 (GRCm39) |
|
probably benign |
Het |
| Ighv1-24 |
C |
A |
12: 114,736,673 (GRCm39) |
V76F |
probably benign |
Het |
| Igkv1-110 |
A |
T |
6: 68,248,145 (GRCm39) |
R85W |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,710,368 (GRCm39) |
I472T |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,089 (GRCm39) |
Y376C |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,053,934 (GRCm39) |
A2199V |
possibly damaging |
Het |
| Or10a5 |
A |
T |
7: 106,636,318 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
| Pcnt |
T |
A |
10: 76,256,080 (GRCm39) |
D720V |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,838,859 (GRCm39) |
E298G |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,434,905 (GRCm39) |
L323H |
probably damaging |
Het |
| Sall3 |
A |
G |
18: 81,014,484 (GRCm39) |
L1076P |
probably benign |
Het |
| Sprr2h |
A |
G |
3: 92,294,258 (GRCm39) |
N35S |
unknown |
Het |
| Susd1 |
T |
C |
4: 59,365,817 (GRCm39) |
D412G |
possibly damaging |
Het |
| Ugdh |
T |
A |
5: 65,574,248 (GRCm39) |
M432L |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,280,184 (GRCm39) |
V765I |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,964,692 (GRCm39) |
Q258R |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,055,354 (GRCm39) |
F1572Y |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,235,846 (GRCm39) |
T645A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,991,843 (GRCm39) |
V659A |
probably damaging |
Het |
|
| Other mutations in Kif9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02273:Kif9
|
APN |
9 |
110,339,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-12-09 |
Incidental Mutation