Incidental Mutation 'R4515:Kif9'
| ID |
332864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif9
|
| Ensembl Gene |
ENSMUSG00000032489 |
| Gene Name |
kinesin family member 9 |
| Synonyms |
|
| MMRRC Submission |
041589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4515 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110476958-110525179 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110489867 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 133
(H133R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
[ENSMUST00000198858]
|
| AlphaFold |
Q9WV04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061155
AA Change: H133R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: H133R
| 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: H133R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: H133R
| 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: H133R
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: H133R
| 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: H133R
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: H133R
| 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: H139R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489
AA Change: H139R
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
144 |
6.7e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.0777 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,647,744 (GRCm38) |
K630N |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,556,363 (GRCm38) |
L335I |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,752,786 (GRCm38) |
|
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,523,847 (GRCm38) |
M984I |
probably benign |
Het |
| Bsn |
G |
T |
9: 108,104,078 (GRCm38) |
|
probably null |
Het |
| Ccdc88a |
T |
C |
11: 29,482,651 (GRCm38) |
I1219T |
probably benign |
Het |
| Cdhr4 |
G |
A |
9: 107,992,951 (GRCm38) |
E52K |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,020,904 (GRCm38) |
N500Y |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,349,877 (GRCm38) |
R1579S |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,385,090 (GRCm38) |
L39P |
probably damaging |
Het |
| Ckm |
A |
G |
7: 19,420,284 (GRCm38) |
K319E |
probably damaging |
Het |
| Cnot6 |
C |
T |
11: 49,702,536 (GRCm38) |
|
probably null |
Het |
| Copg1 |
A |
G |
6: 87,907,546 (GRCm38) |
|
probably benign |
Het |
| Dbn1 |
A |
T |
13: 55,476,229 (GRCm38) |
I350N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,465,631 (GRCm38) |
S2135P |
possibly damaging |
Het |
| Dsg2 |
C |
A |
18: 20,601,387 (GRCm38) |
D807E |
probably benign |
Het |
| Fam122c |
G |
A |
X: 53,293,499 (GRCm38) |
R94H |
possibly damaging |
Het |
| Foxi1 |
A |
G |
11: 34,207,972 (GRCm38) |
F18L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 66,093,610 (GRCm38) |
R438L |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,243,571 (GRCm38) |
D25V |
probably damaging |
Het |
| Gm11492 |
A |
G |
11: 87,568,057 (GRCm38) |
H419R |
probably benign |
Het |
| Gm9008 |
C |
T |
6: 76,496,809 (GRCm38) |
V275I |
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,559,008 (GRCm38) |
S1733T |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,367,830 (GRCm38) |
|
probably null |
Het |
| Hemgn |
T |
C |
4: 46,396,477 (GRCm38) |
E253G |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,899,649 (GRCm38) |
V47M |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,208,257 (GRCm38) |
V947A |
probably benign |
Het |
| Lce1l |
T |
C |
3: 92,850,474 (GRCm38) |
T26A |
unknown |
Het |
| Macf1 |
T |
C |
4: 123,493,988 (GRCm38) |
E1172G |
probably damaging |
Het |
| Nkx3-2 |
C |
T |
5: 41,763,938 (GRCm38) |
V3M |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,578,191 (GRCm38) |
T49I |
probably benign |
Het |
| Oc90 |
A |
G |
15: 65,892,393 (GRCm38) |
L138P |
probably damaging |
Het |
| Olfr834 |
T |
G |
9: 18,987,982 (GRCm38) |
|
probably null |
Het |
| Olfr954 |
C |
T |
9: 39,462,231 (GRCm38) |
R264* |
probably null |
Het |
| Orc4 |
G |
A |
2: 48,937,489 (GRCm38) |
P31S |
probably benign |
Het |
| Paqr3 |
T |
A |
5: 97,103,361 (GRCm38) |
N168I |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,091,379 (GRCm38) |
I415N |
probably damaging |
Het |
| Pdik1l |
T |
C |
4: 134,278,896 (GRCm38) |
N75S |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,672,725 (GRCm38) |
H1005R |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,225,531 (GRCm38) |
S109G |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,702,838 (GRCm38) |
T402A |
possibly damaging |
Het |
| Ptger4 |
C |
A |
15: 5,242,379 (GRCm38) |
R253L |
probably damaging |
Het |
| Rabac1 |
A |
T |
7: 24,970,160 (GRCm38) |
Y173* |
probably null |
Het |
| Rapsn |
G |
A |
2: 91,043,212 (GRCm38) |
V288M |
possibly damaging |
Het |
| Sec31a |
A |
G |
5: 100,365,958 (GRCm38) |
S993P |
probably damaging |
Het |
| Serpina9 |
T |
A |
12: 104,001,294 (GRCm38) |
M281L |
probably benign |
Het |
| Serpine1 |
G |
A |
5: 137,069,468 (GRCm38) |
A117V |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 61,987,693 (GRCm38) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 125,492,226 (GRCm38) |
D124G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,353,530 (GRCm38) |
|
probably null |
Het |
| Stk11 |
A |
G |
10: 80,116,601 (GRCm38) |
|
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,589,996 (GRCm38) |
Y720H |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 72,572,161 (GRCm38) |
P20S |
possibly damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,420,196 (GRCm38) |
R224K |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,957,356 (GRCm38) |
S988N |
probably benign |
Het |
| Txn2 |
A |
T |
15: 77,915,443 (GRCm38) |
|
probably null |
Het |
| Ugt1a10 |
T |
A |
1: 88,056,197 (GRCm38) |
V239E |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,681,213 (GRCm38) |
Y534C |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,954,258 (GRCm38) |
D548V |
probably damaging |
Het |
|
| Other mutations in Kif9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01630:Kif9
|
APN |
9 |
110,485,070 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02273:Kif9
|
APN |
9 |
110,510,470 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02818:Kif9
|
APN |
9 |
110,485,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0034:Kif9
|
UTSW |
9 |
110,519,611 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0034:Kif9
|
UTSW |
9 |
110,519,611 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0047:Kif9
|
UTSW |
9 |
110,485,038 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0047:Kif9
|
UTSW |
9 |
110,485,038 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0137:Kif9
|
UTSW |
9 |
110,485,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0594:Kif9
|
UTSW |
9 |
110,511,340 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1503:Kif9
|
UTSW |
9 |
110,510,438 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1657:Kif9
|
UTSW |
9 |
110,489,966 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1826:Kif9
|
UTSW |
9 |
110,517,633 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1856:Kif9
|
UTSW |
9 |
110,517,719 (GRCm38) |
missense |
probably null |
1.00 |
|
R2076:Kif9
|
UTSW |
9 |
110,485,032 (GRCm38) |
splice site |
probably null |
|
|
R3407:Kif9
|
UTSW |
9 |
110,519,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4247:Kif9
|
UTSW |
9 |
110,495,959 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4487:Kif9
|
UTSW |
9 |
110,494,484 (GRCm38) |
missense |
probably null |
1.00 |
|
R4880:Kif9
|
UTSW |
9 |
110,501,635 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5024:Kif9
|
UTSW |
9 |
110,483,093 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5093:Kif9
|
UTSW |
9 |
110,489,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5181:Kif9
|
UTSW |
9 |
110,521,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5362:Kif9
|
UTSW |
9 |
110,489,944 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5379:Kif9
|
UTSW |
9 |
110,521,303 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5628:Kif9
|
UTSW |
9 |
110,514,553 (GRCm38) |
nonsense |
probably null |
|
|
R5653:Kif9
|
UTSW |
9 |
110,524,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5698:Kif9
|
UTSW |
9 |
110,510,464 (GRCm38) |
missense |
probably benign |
|
|
R5758:Kif9
|
UTSW |
9 |
110,489,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5986:Kif9
|
UTSW |
9 |
110,490,026 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6103:Kif9
|
UTSW |
9 |
110,489,849 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6247:Kif9
|
UTSW |
9 |
110,488,544 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6255:Kif9
|
UTSW |
9 |
110,517,834 (GRCm38) |
splice site |
probably null |
|
|
R6991:Kif9
|
UTSW |
9 |
110,494,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7113:Kif9
|
UTSW |
9 |
110,506,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7459:Kif9
|
UTSW |
9 |
110,519,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7593:Kif9
|
UTSW |
9 |
110,521,353 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7892:Kif9
|
UTSW |
9 |
110,514,614 (GRCm38) |
missense |
not run |
|
|
R8050:Kif9
|
UTSW |
9 |
110,519,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8370:Kif9
|
UTSW |
9 |
110,488,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8549:Kif9
|
UTSW |
9 |
110,514,419 (GRCm38) |
splice site |
probably null |
|
|
R8751:Kif9
|
UTSW |
9 |
110,501,656 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8830:Kif9
|
UTSW |
9 |
110,524,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9489:Kif9
|
UTSW |
9 |
110,517,642 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9519:Kif9
|
UTSW |
9 |
110,521,276 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9605:Kif9
|
UTSW |
9 |
110,517,642 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9776:Kif9
|
UTSW |
9 |
110,521,330 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCAAAACTGGATAATCTTACC -3'
(R):5'- TCCTCCTCTTGACTGGTGAGATG -3'
Sequencing Primer
(F):5'- CCAGTAGACTAACAACAGTGGCTG -3'
(R):5'- GAGATGCACTGACAAGCCTTTAATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation