Incidental Mutation 'R5628:Kif9'
| ID |
441937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif9
|
| Ensembl Gene |
ENSMUSG00000032489 |
| Gene Name |
kinesin family member 9 |
| Synonyms |
|
| MMRRC Submission |
043167-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R5628 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 110343621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 547
(R547*)
|
| 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
AA Change: R547*
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: R547*
| 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
AA Change: R547*
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: R547*
| 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
AA Change: R547*
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: R547*
| 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
AA Change: R547*
|
| SMART Domains |
Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: R547*
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,747 (GRCm39) |
D671G |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,613,556 (GRCm39) |
D685G |
unknown |
Het |
| Atp6v1h |
G |
A |
1: 5,206,112 (GRCm39) |
W358* |
probably null |
Het |
| Atr |
T |
A |
9: 95,756,279 (GRCm39) |
Y830* |
probably null |
Het |
| B3galnt2 |
A |
T |
13: 14,169,737 (GRCm39) |
|
probably null |
Het |
| Casz1 |
T |
C |
4: 149,030,553 (GRCm39) |
Y1191H |
probably damaging |
Het |
| Cdc40 |
T |
G |
10: 40,727,049 (GRCm39) |
E169D |
probably benign |
Het |
| Cep55 |
C |
T |
19: 38,058,396 (GRCm39) |
Q330* |
probably null |
Het |
| Clcn1 |
T |
C |
6: 42,275,823 (GRCm39) |
V315A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,226,218 (GRCm39) |
F2957L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dync1li2 |
T |
C |
8: 105,147,224 (GRCm39) |
N490S |
possibly damaging |
Het |
| Ephb3 |
T |
C |
16: 21,036,869 (GRCm39) |
Y111H |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,877,392 (GRCm39) |
Y3407C |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,230,622 (GRCm39) |
V393A |
probably damaging |
Het |
| Fnip1 |
A |
T |
11: 54,394,459 (GRCm39) |
D965V |
probably benign |
Het |
| Gramd2a |
T |
C |
9: 59,615,006 (GRCm39) |
M3T |
probably benign |
Het |
| Kctd15 |
T |
C |
7: 34,339,720 (GRCm39) |
D283G |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,910,915 (GRCm39) |
T245A |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,579 (GRCm39) |
L385F |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,107,240 (GRCm39) |
C1252R |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,861,620 (GRCm39) |
I134N |
unknown |
Het |
| Or5m10b |
T |
A |
2: 85,699,149 (GRCm39) |
I71N |
probably damaging |
Het |
| Osgin2 |
T |
A |
4: 15,998,998 (GRCm39) |
N208I |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,461,063 (GRCm39) |
V29M |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,600,823 (GRCm39) |
M812L |
probably damaging |
Het |
| Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,698,963 (GRCm39) |
N1153K |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,724,409 (GRCm39) |
|
probably null |
Het |
| Rusc2 |
C |
T |
4: 43,425,348 (GRCm39) |
T1151M |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,921,389 (GRCm39) |
T30A |
possibly damaging |
Het |
| Sephs1 |
T |
C |
2: 4,894,018 (GRCm39) |
I73T |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,037,334 (GRCm39) |
A861T |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,607,964 (GRCm39) |
W316R |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,021,974 (GRCm39) |
D484V |
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,753,924 (GRCm39) |
|
probably benign |
Het |
| Stard5 |
T |
C |
7: 83,282,355 (GRCm39) |
I56T |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
| Tmem217 |
A |
T |
17: 29,745,430 (GRCm39) |
I100N |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,748,470 (GRCm39) |
R1400Q |
probably benign |
Het |
| Vmn1r82 |
T |
G |
7: 12,039,205 (GRCm39) |
N41K |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,675,247 (GRCm39) |
D367G |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,663 (GRCm39) |
V244E |
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 |
|
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'- TTCTCACTGCTAATGCCTGGGT -3'
(R):5'- GCAGATTGAGGTTGGGACAT -3'
Sequencing Primer
(F):5'- AATGCCTGGGTCTTGGTATTTCCC -3'
(R):5'- GGGACATTTTGCATGCATATTTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation