Incidental Mutation 'R5379:Kif9'
| ID |
425758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif9
|
| Ensembl Gene |
ENSMUSG00000032489 |
| Gene Name |
kinesin family member 9 |
| Synonyms |
|
| MMRRC Submission |
042954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R5379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110350371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 754
(V754A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
|
| AlphaFold |
Q9WV04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061155
AA Change: V754A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: V754A
| 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: V754A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: V754A
| 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: V754A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: V754A
| 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 |
|
| Meta Mutation Damage Score |
0.0774 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,096,532 (GRCm39) |
L640Q |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,891,721 (GRCm39) |
E32G |
probably damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,489,411 (GRCm39) |
M734L |
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,822,296 (GRCm39) |
D294G |
probably damaging |
Het |
| Baz1a |
T |
G |
12: 54,941,133 (GRCm39) |
D1539A |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,208,520 (GRCm39) |
S141T |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,822,545 (GRCm39) |
V20A |
probably damaging |
Het |
| Chst8 |
A |
G |
7: 34,375,279 (GRCm39) |
Y187H |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,443 (GRCm39) |
Y362H |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,499,846 (GRCm39) |
G3008* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,008,029 (GRCm39) |
|
probably benign |
Het |
| Dnajb1 |
C |
T |
8: 84,335,135 (GRCm39) |
R59C |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,003,533 (GRCm39) |
K10E |
probably benign |
Het |
| Eif5 |
T |
C |
12: 111,509,989 (GRCm39) |
L311P |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,795,825 (GRCm39) |
F251S |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,002,998 (GRCm39) |
S620P |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,494,169 (GRCm39) |
V550A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,767 (GRCm39) |
T1091A |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,266,246 (GRCm39) |
|
probably benign |
Het |
| Fndc5 |
A |
T |
4: 129,035,887 (GRCm39) |
I175F |
probably damaging |
Het |
| Gtf2ird2 |
G |
C |
5: 134,246,310 (GRCm39) |
R856P |
probably benign |
Het |
| Hc |
A |
T |
2: 34,881,077 (GRCm39) |
F1481I |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,862 (GRCm39) |
T1211S |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,299,023 (GRCm39) |
V2790M |
probably damaging |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,297 (GRCm39) |
Y71C |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,711,560 (GRCm39) |
D725G |
probably damaging |
Het |
| Larp4b |
C |
A |
13: 9,186,945 (GRCm39) |
T91K |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,190 (GRCm39) |
E1948G |
possibly damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,496 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrc4 |
A |
T |
17: 74,755,078 (GRCm39) |
L46* |
probably null |
Het |
| Or13c7c |
A |
G |
4: 43,836,010 (GRCm39) |
I160T |
probably benign |
Het |
| Or7g21 |
A |
T |
9: 19,032,373 (GRCm39) |
T38S |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,151 (GRCm39) |
Y60H |
possibly damaging |
Het |
| Orm1 |
A |
G |
4: 63,264,230 (GRCm39) |
|
probably null |
Het |
| Parva |
A |
T |
7: 112,178,927 (GRCm39) |
H311L |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,521,493 (GRCm39) |
I370V |
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,092 (GRCm39) |
S154R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,307,771 (GRCm39) |
V344A |
probably damaging |
Het |
| Rabep1 |
A |
T |
11: 70,799,247 (GRCm39) |
K293N |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,083 (GRCm39) |
V423A |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,652,639 (GRCm39) |
Y711N |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,042,309 (GRCm39) |
M498K |
possibly damaging |
Het |
| Sin3a |
T |
C |
9: 57,018,272 (GRCm39) |
M897T |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Srbd1 |
A |
C |
17: 86,308,964 (GRCm39) |
I738S |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,072,991 (GRCm39) |
V2106A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,638,496 (GRCm39) |
R412G |
probably benign |
Het |
| Tex47 |
G |
A |
5: 7,354,843 (GRCm39) |
R8Q |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,952,363 (GRCm39) |
Y548H |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,306,054 (GRCm39) |
H152L |
possibly damaging |
Het |
| Zfp184 |
A |
G |
13: 22,144,051 (GRCm39) |
I586V |
probably damaging |
Het |
| Zfp454 |
T |
C |
11: 50,774,629 (GRCm39) |
T15A |
probably damaging |
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 |
|
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 |
|
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'- TCTGGAAGGACACTAGCAGAC -3'
(R):5'- CAATCTTCCTGGGCTGGTAC -3'
Sequencing Primer
(F):5'- CAGACATGGATGTTACAGATGCTCTG -3'
(R):5'- TGGGCTGGTACCATCACACAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation