Incidental Mutation 'R6103:Kif9'
| ID |
485385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif9
|
| Ensembl Gene |
ENSMUSG00000032489 |
| Gene Name |
kinesin family member 9 |
| Synonyms |
|
| MMRRC Submission |
044253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110476958-110525179 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110489849 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 127
(I127T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
[ENSMUST00000198858]
|
| AlphaFold |
Q9WV04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061155
AA Change: I127T
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: I127T
| 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 |
possibly damaging
Transcript: ENSMUST00000084952
AA Change: I127T
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: I127T
| 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 |
possibly damaging
Transcript: ENSMUST00000197248
AA Change: I127T
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: I127T
| 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: I127T
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: I127T
| 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: I133T
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489
AA Change: I133T
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
144 |
6.7e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.4469 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 46,119,021 (GRCm38) |
S926P |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,245,881 (GRCm38) |
M2157K |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,913,251 (GRCm38) |
V636A |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,196,267 (GRCm38) |
Y51C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,222,055 (GRCm38) |
T1568A |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,113,983 (GRCm38) |
S937T |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,454,429 (GRCm38) |
E340G |
probably damaging |
Het |
| Avpr1b |
C |
T |
1: 131,609,417 (GRCm38) |
P90S |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,396,489 (GRCm38) |
H159R |
probably damaging |
Het |
| Carmil3 |
A |
T |
14: 55,505,427 (GRCm38) |
T1185S |
probably benign |
Het |
| Casp2 |
A |
T |
6: 42,279,880 (GRCm38) |
R357S |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 110,018,007 (GRCm38) |
D47G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,698,314 (GRCm38) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,878,304 (GRCm38) |
Y27C |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,924,576 (GRCm38) |
D1176V |
probably benign |
Het |
| Cpd |
A |
T |
11: 76,799,799 (GRCm38) |
S844T |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 115,111,667 (GRCm38) |
L380P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,825,581 (GRCm38) |
V376A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,502,328 (GRCm38) |
N565K |
probably damaging |
Het |
| Fam110c |
G |
A |
12: 31,074,795 (GRCm38) |
W252* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,149,522 (GRCm38) |
I39N |
probably damaging |
Het |
| Fgb |
T |
C |
3: 83,043,863 (GRCm38) |
D281G |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,549,788 (GRCm38) |
T2048S |
probably benign |
Het |
| Fut8 |
A |
T |
12: 77,331,947 (GRCm38) |
|
probably benign |
Het |
| Glmp |
T |
C |
3: 88,328,031 (GRCm38) |
S238P |
probably benign |
Het |
| Gm35315 |
T |
A |
5: 110,078,271 (GRCm38) |
Y434F |
probably damaging |
Het |
| Gnpnat1 |
A |
G |
14: 45,383,399 (GRCm38) |
F71S |
probably damaging |
Het |
| Gpnmb |
A |
G |
6: 49,042,886 (GRCm38) |
R64G |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,166,204 (GRCm38) |
F275S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,093,126 (GRCm38) |
C1314S |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,567,863 (GRCm38) |
|
probably null |
Het |
| Ms4a3 |
A |
T |
19: 11,639,218 (GRCm38) |
V20D |
possibly damaging |
Het |
| Mtres1 |
A |
T |
10: 43,532,920 (GRCm38) |
Y76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,618,743 (GRCm38) |
E272G |
probably damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,108,713 (GRCm38) |
G292S |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,135,743 (GRCm38) |
Y1475N |
possibly damaging |
Het |
| Obp2a |
G |
A |
2: 25,700,151 (GRCm38) |
E21K |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,841,432 (GRCm38) |
Y120H |
probably damaging |
Het |
| Osbpl10 |
T |
A |
9: 115,061,872 (GRCm38) |
Y109* |
probably null |
Het |
| Plcd1 |
A |
T |
9: 119,072,041 (GRCm38) |
W749R |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,400,706 (GRCm38) |
E718G |
possibly damaging |
Het |
| Rbm4 |
C |
T |
19: 4,787,919 (GRCm38) |
R295H |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,994,649 (GRCm38) |
P44L |
unknown |
Het |
| Setdb2 |
T |
C |
14: 59,409,532 (GRCm38) |
|
probably null |
Het |
| Slc25a18 |
C |
A |
6: 120,789,438 (GRCm38) |
L131I |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,234,465 (GRCm38) |
H221R |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,883 (GRCm38) |
W757R |
probably damaging |
Het |
| Tmem183a |
C |
A |
1: 134,348,146 (GRCm38) |
V331L |
probably benign |
Het |
| Try10 |
C |
A |
6: 41,356,550 (GRCm38) |
H76Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,918,255 (GRCm38) |
H4150L |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 10,171,400 (GRCm38) |
P171S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,415,369 (GRCm38) |
T450A |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,541,062 (GRCm38) |
V34D |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,912,085 (GRCm38) |
P125L |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 127,050,576 (GRCm38) |
V71A |
probably benign |
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 |
|
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'- GGCCCAAAACTGGATAATCTTAC -3'
(R):5'- TCCTCCTCTTGACTGGTGAG -3'
Sequencing Primer
(F):5'- CCAGTAGACTAACAACAGTGGCTG -3'
(R):5'- CCTCTTGACTGGTGAGATGCAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation