Incidental Mutation 'R8370:Kif9'
| ID |
646347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif9
|
| Ensembl Gene |
ENSMUSG00000032489 |
| Gene Name |
kinesin family member 9 |
| Synonyms |
|
| MMRRC Submission |
067809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R8370 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110317681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 113
(R113C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
[ENSMUST00000198858]
|
| AlphaFold |
Q9WV04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061155
AA Change: R113C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: R113C
| 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: R113C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: R113C
| 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: R113C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: R113C
| 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 damaging
Transcript: ENSMUST00000198043
AA Change: R113C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: R113C
| 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 damaging
Transcript: ENSMUST00000198858
AA Change: R119C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489
AA Change: R119C
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
144 |
6.7e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,696,881 (GRCm39) |
V92A |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,799,833 (GRCm39) |
N675I |
possibly damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,293 (GRCm39) |
H126R |
possibly damaging |
Het |
| Ccdc202 |
T |
C |
14: 96,119,930 (GRCm39) |
L229P |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,824 (GRCm39) |
F227S |
probably damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,968,758 (GRCm39) |
G41D |
probably damaging |
Het |
| Commd1 |
A |
T |
11: 22,932,104 (GRCm39) |
L51Q |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,553,192 (GRCm39) |
V1245D |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,383,302 (GRCm39) |
I925T |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,131,454 (GRCm39) |
I700K |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,319,284 (GRCm39) |
T983K |
probably damaging |
Het |
| Gm14325 |
T |
C |
2: 177,474,385 (GRCm39) |
I232M |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,732,679 (GRCm39) |
H683R |
probably benign |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,280 (GRCm39) |
E489G |
possibly damaging |
Het |
| Lhb |
A |
G |
7: 45,071,066 (GRCm39) |
D97G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,888,117 (GRCm39) |
D2381G |
|
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,682,642 (GRCm39) |
D427G |
probably damaging |
Het |
| Mrps18b |
T |
C |
17: 36,223,254 (GRCm39) |
I131V |
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,398,882 (GRCm39) |
K567* |
probably null |
Het |
| Ncam1 |
T |
A |
9: 49,468,431 (GRCm39) |
R343* |
probably null |
Het |
| Nfrkb |
T |
A |
9: 31,316,875 (GRCm39) |
N591K |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,854,974 (GRCm39) |
C117* |
probably null |
Het |
| Or5b123 |
T |
A |
19: 13,596,661 (GRCm39) |
I2N |
probably damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,681 (GRCm39) |
Y61N |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,275 (GRCm39) |
N509Y |
probably damaging |
Het |
| Prss58 |
C |
A |
6: 40,872,358 (GRCm39) |
G222C |
probably damaging |
Het |
| Ptx4 |
C |
A |
17: 25,342,314 (GRCm39) |
P263Q |
possibly damaging |
Het |
| Ribc2 |
T |
G |
15: 85,027,489 (GRCm39) |
H323Q |
probably benign |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,908 (GRCm39) |
T1028M |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,891,766 (GRCm39) |
D18G |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,093,022 (GRCm39) |
I806V |
probably benign |
Het |
| Trim14 |
A |
T |
4: 46,523,711 (GRCm39) |
L109Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,815,208 (GRCm39) |
H1602Q |
|
Het |
| Zbtb48 |
A |
G |
4: 152,105,744 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
T |
C |
1: 127,895,670 (GRCm39) |
E726G |
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 |
|
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 |
|
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'- CAAGGTGGAATCCCTGATGTC -3'
(R):5'- TGTCTCATGGTACCCCGAAC -3'
Sequencing Primer
(F):5'- TCGCATCAAGATCCTGGATG -3'
(R):5'- ACCAGAGTGAGCTGCAGTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation