Incidental Mutation 'R4247:Kif9'
| ID |
320470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif9
|
| Ensembl Gene |
ENSMUSG00000032489 |
| Gene Name |
kinesin family member 9 |
| Synonyms |
|
| MMRRC Submission |
041063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R4247 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 110325027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
|
| AlphaFold |
Q9WV04 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061155
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
| 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 null
Transcript: ENSMUST00000084952
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
| 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 null
Transcript: ENSMUST00000197248
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
| 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 null
Transcript: ENSMUST00000198043
|
| SMART Domains |
Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
| 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 |
|
| Meta Mutation Damage Score |
0.9473 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,195,626 (GRCm39) |
I305V |
probably benign |
Het |
| Aga |
T |
A |
8: 53,964,865 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Akna |
C |
T |
4: 63,313,409 (GRCm39) |
G238D |
probably benign |
Het |
| Arhgap23 |
G |
A |
11: 97,354,525 (GRCm39) |
E813K |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,719,539 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
C |
T |
5: 67,824,917 (GRCm39) |
G820S |
probably damaging |
Het |
| Ccdc97 |
T |
G |
7: 25,415,459 (GRCm39) |
H68P |
possibly damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fubp1 |
G |
A |
3: 151,937,573 (GRCm39) |
A103T |
possibly damaging |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Gtf3c5 |
T |
C |
2: 28,461,196 (GRCm39) |
D306G |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,594,417 (GRCm39) |
N16I |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Kif27 |
A |
G |
13: 58,435,731 (GRCm39) |
V1354A |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,176 (GRCm39) |
I193T |
possibly damaging |
Het |
| Or2bd2 |
A |
G |
7: 6,441,901 (GRCm39) |
|
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,979,355 (GRCm39) |
I15V |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,446 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,314,686 (GRCm39) |
D1802G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,636,952 (GRCm39) |
V250M |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,149,994 (GRCm39) |
V239A |
possibly damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,988,171 (GRCm39) |
D512V |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tamalin |
G |
T |
15: 101,122,418 (GRCm39) |
R79L |
possibly damaging |
Het |
| Trp73 |
A |
G |
4: 154,149,089 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Upp1 |
T |
C |
11: 9,084,815 (GRCm39) |
I178T |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,521,883 (GRCm39) |
L152Q |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,542 (GRCm39) |
S599P |
possibly damaging |
Het |
| Wrnip1 |
T |
C |
13: 32,990,866 (GRCm39) |
L375P |
probably damaging |
Het |
| Zfp945 |
C |
T |
17: 23,069,583 (GRCm39) |
G793D |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,576,389 (GRCm39) |
A231S |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGCAAACCAGGAAGCG -3'
(R):5'- AAGAGTGCACGAAGGCTTGTC -3'
Sequencing Primer
(F):5'- TATTCTGTCCAGAGTGACCACAC -3'
(R):5'- ACGAAGGCTTGTCCCATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation