Incidental Mutation 'R9519:Kif9'
| ID |
718774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif9
|
| Ensembl Gene |
ENSMUSG00000032489 |
| Gene Name |
kinesin family member 9 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9519 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110476958-110525179 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110521276 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 745
(D745G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
|
| AlphaFold |
Q9WV04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061155
AA Change: D745G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: D745G
| 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: D745G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: D745G
| 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: D745G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: D745G
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 76,882,725 (GRCm38) |
E676G |
probably benign |
Het |
| Aatk |
G |
A |
11: 120,021,483 (GRCm38) |
|
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,389,817 (GRCm38) |
V20A |
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,373,979 (GRCm38) |
V181A |
possibly damaging |
Het |
| Alkbh2 |
T |
C |
5: 114,127,733 (GRCm38) |
K3E |
probably benign |
Het |
| Aox2 |
A |
C |
1: 58,334,767 (GRCm38) |
K862N |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,394,739 (GRCm38) |
|
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,289,067 (GRCm38) |
N67D |
possibly damaging |
Het |
| Atxn1l |
C |
T |
8: 109,732,056 (GRCm38) |
V525M |
probably damaging |
Het |
| Bcan |
C |
G |
3: 87,995,657 (GRCm38) |
E271D |
probably damaging |
Het |
| Bcan |
T |
C |
3: 87,995,661 (GRCm38) |
E270G |
probably benign |
Het |
| Bcan |
C |
A |
3: 87,995,660 (GRCm38) |
E270D |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,546,290 (GRCm38) |
H522R |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 28,296,339 (GRCm38) |
S346P |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,652,305 (GRCm38) |
T406S |
possibly damaging |
Het |
| Far1 |
A |
G |
7: 113,551,352 (GRCm38) |
R296G |
probably benign |
Het |
| Flot1 |
T |
G |
17: 35,825,471 (GRCm38) |
V172G |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,541,452 (GRCm38) |
M165V |
probably benign |
Het |
| Golm1 |
T |
C |
13: 59,645,100 (GRCm38) |
H197R |
probably benign |
Het |
| Gpr85 |
T |
C |
6: 13,836,999 (GRCm38) |
|
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,400,074 (GRCm38) |
K1017E |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,676,791 (GRCm38) |
D435A |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,158,019 (GRCm38) |
D93G |
possibly damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,382,516 (GRCm38) |
V363E |
probably damaging |
Het |
| Lipm |
T |
C |
19: 34,112,992 (GRCm38) |
M191T |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,385,195 (GRCm38) |
R1603C |
probably damaging |
Het |
| Ms4a13 |
C |
G |
19: 11,169,968 (GRCm38) |
S194T |
unknown |
Het |
| Muc16 |
A |
T |
9: 18,586,920 (GRCm38) |
I6577N |
probably benign |
Het |
| Nfatc2 |
T |
C |
2: 168,570,758 (GRCm38) |
T336A |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,385,877 (GRCm38) |
K92N |
possibly damaging |
Het |
| Olfr404-ps1 |
A |
T |
11: 74,240,001 (GRCm38) |
T146S |
probably benign |
Het |
| Olfr642 |
C |
A |
7: 104,049,429 (GRCm38) |
M308I |
probably benign |
Het |
| Parp16 |
T |
A |
9: 65,229,940 (GRCm38) |
Y149* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,176,689 (GRCm38) |
T463S |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,711,395 (GRCm38) |
E276G |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,056,061 (GRCm38) |
V110A |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,685,100 (GRCm38) |
Y737C |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,579,909 (GRCm38) |
|
probably benign |
Het |
| Sds |
T |
A |
5: 120,481,545 (GRCm38) |
L173Q |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 44,312,918 (GRCm38) |
S71N |
unknown |
Het |
| Slc8a3 |
A |
T |
12: 81,315,552 (GRCm38) |
D164E |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,575,407 (GRCm38) |
N607I |
probably damaging |
Het |
| Smarce1 |
A |
T |
11: 99,214,107 (GRCm38) |
I248K |
probably benign |
Het |
| Smg7 |
G |
T |
1: 152,859,445 (GRCm38) |
T213K |
probably damaging |
Het |
| Snrnp70 |
C |
T |
7: 45,387,451 (GRCm38) |
D90N |
probably benign |
Het |
| Snx20 |
A |
G |
8: 88,627,772 (GRCm38) |
V110A |
possibly damaging |
Het |
| Snx25 |
A |
G |
8: 46,033,746 (GRCm38) |
V986A |
probably damaging |
Het |
| Soat1 |
T |
C |
1: 156,432,209 (GRCm38) |
K521E |
probably benign |
Het |
| Speg |
C |
T |
1: 75,415,736 (GRCm38) |
T1679M |
probably damaging |
Het |
| Stoml3 |
T |
A |
3: 53,497,981 (GRCm38) |
F28I |
probably benign |
Het |
| Sult1d1 |
A |
T |
5: 87,556,862 (GRCm38) |
M256K |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,811,934 (GRCm38) |
E1064G |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,772,879 (GRCm38) |
P154L |
probably damaging |
Het |
| Zfp790 |
C |
A |
7: 29,823,142 (GRCm38) |
H3N |
unknown |
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 |
|
R4515:Kif9
|
UTSW |
9 |
110,489,867 (GRCm38) |
missense |
probably benign |
0.38 |
|
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 |
|
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'- TTTTCTGCAGTGCCCAGGTG -3'
(R):5'- TCAATCTTCCTGGGCTGGTAC -3'
Sequencing Primer
(F):5'- AGGTGGCCCTTACAGAGG -3'
(R):5'- ACACCCTGTGCCTATCTAATGGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation