Incidental Mutation 'R0302:Kifc3'
| ID |
24853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kifc3
|
| Ensembl Gene |
ENSMUSG00000031788 |
| Gene Name |
kinesin family member C3 |
| Synonyms |
|
| MMRRC Submission |
038514-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0302 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95826456-95929440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95830098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 557
(Q557K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034239]
[ENSMUST00000034240]
[ENSMUST00000169353]
[ENSMUST00000169748]
[ENSMUST00000212968]
[ENSMUST00000213004]
|
| AlphaFold |
O35231 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034239
|
| SMART Domains |
Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
9 |
49 |
2.61e-3 |
SMART |
|
WD40
|
52 |
91 |
2.45e-8 |
SMART |
|
WD40
|
94 |
133 |
3.58e-10 |
SMART |
|
WD40
|
136 |
175 |
7.49e-13 |
SMART |
|
WD40
|
178 |
217 |
5.14e-11 |
SMART |
|
WD40
|
220 |
258 |
1.14e-3 |
SMART |
|
low complexity region
|
354 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
412 |
N/A |
INTRINSIC |
|
Pfam:Katanin_con80
|
496 |
654 |
8.2e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034240
AA Change: Q603K
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788
AA Change: Q603K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
coiled coil region
|
100 |
360 |
N/A |
INTRINSIC |
|
coiled coil region
|
393 |
430 |
N/A |
INTRINSIC |
|
KISc
|
441 |
774 |
3.15e-158 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169353
AA Change: Q488K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788
AA Change: Q488K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
33 |
223 |
N/A |
INTRINSIC |
|
coiled coil region
|
256 |
293 |
N/A |
INTRINSIC |
|
KISc
|
304 |
637 |
3.15e-158 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169748
AA Change: Q557K
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788
AA Change: Q557K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
324 |
N/A |
INTRINSIC |
|
coiled coil region
|
357 |
394 |
N/A |
INTRINSIC |
|
KISc
|
405 |
728 |
3.11e-148 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212968
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213004
AA Change: Q466K
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.1364 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.5%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
T |
C |
4: 126,211,185 (GRCm39) |
E244G |
probably benign |
Het |
| Aldh1l2 |
G |
A |
10: 83,356,229 (GRCm39) |
P54S |
probably damaging |
Het |
| Ankdd1a |
G |
A |
9: 65,416,924 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
T |
A |
13: 98,408,200 (GRCm39) |
S216R |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,028,342 (GRCm39) |
Y893C |
probably benign |
Het |
| Capza2 |
G |
A |
6: 17,648,523 (GRCm39) |
R15H |
probably benign |
Het |
| Cbfa2t2 |
T |
C |
2: 154,376,796 (GRCm39) |
|
probably benign |
Het |
| Ccdc96 |
A |
T |
5: 36,643,445 (GRCm39) |
T484S |
possibly damaging |
Het |
| Cckar |
GCTTAGCCTCTTCT |
GCT |
5: 53,857,641 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
T |
A |
11: 83,554,280 (GRCm39) |
|
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,302,073 (GRCm39) |
Y702H |
probably benign |
Het |
| Cr1l |
G |
A |
1: 194,800,101 (GRCm39) |
T153I |
probably damaging |
Het |
| Cyth2 |
C |
A |
7: 45,460,009 (GRCm39) |
E57* |
probably null |
Het |
| Daxx |
T |
A |
17: 34,132,594 (GRCm39) |
S575T |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,061,890 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,521,956 (GRCm39) |
D1923G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,162,937 (GRCm39) |
T428A |
probably benign |
Het |
| Dnm2 |
G |
T |
9: 21,411,639 (GRCm39) |
A619S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,723,457 (GRCm39) |
T639A |
probably benign |
Het |
| Epsti1 |
A |
T |
14: 78,177,366 (GRCm39) |
H182L |
probably damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,175 (GRCm39) |
R250Q |
probably benign |
Het |
| Ggn |
G |
T |
7: 28,870,665 (GRCm39) |
|
probably null |
Het |
| Il1rap |
A |
G |
16: 26,511,544 (GRCm39) |
N196S |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,946,961 (GRCm39) |
T335A |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,148,854 (GRCm39) |
|
probably benign |
Het |
| Krt23 |
A |
G |
11: 99,369,027 (GRCm39) |
I422T |
probably benign |
Het |
| Lcn2 |
A |
G |
2: 32,274,901 (GRCm39) |
|
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,364,619 (GRCm39) |
T326A |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,047,506 (GRCm39) |
I909V |
possibly damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,552 (GRCm39) |
R396L |
probably benign |
Het |
| Lypd6 |
T |
G |
2: 50,055,679 (GRCm39) |
|
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,819,645 (GRCm39) |
N610S |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,987 (GRCm39) |
N959I |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,740,012 (GRCm39) |
V793I |
possibly damaging |
Het |
| Med25 |
A |
C |
7: 44,529,982 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,748,616 (GRCm39) |
Y83C |
probably damaging |
Het |
| Mtbp |
A |
T |
15: 55,488,820 (GRCm39) |
M499L |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,085,333 (GRCm39) |
I542T |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,022,358 (GRCm39) |
M90T |
probably damaging |
Het |
| Nsmce4a |
A |
G |
7: 130,147,623 (GRCm39) |
|
probably benign |
Het |
| Oprl1 |
G |
A |
2: 181,361,021 (GRCm39) |
C318Y |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,854 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,572 (GRCm39) |
S46T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,516,818 (GRCm39) |
F575I |
possibly damaging |
Het |
| Ptpn13 |
G |
T |
5: 103,713,091 (GRCm39) |
S1738I |
probably benign |
Het |
| Rnf126 |
G |
T |
10: 79,595,057 (GRCm39) |
P269Q |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,477,468 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,233,978 (GRCm39) |
A31V |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,340,218 (GRCm39) |
D487G |
probably damaging |
Het |
| Son |
G |
T |
16: 91,453,032 (GRCm39) |
G593V |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,850,964 (GRCm39) |
N388S |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,922,668 (GRCm39) |
M927K |
possibly damaging |
Het |
| Taf13 |
A |
G |
3: 108,479,038 (GRCm39) |
M1V |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,902,603 (GRCm39) |
F286S |
probably damaging |
Het |
| Trpm2 |
A |
C |
10: 77,779,824 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,353,438 (GRCm39) |
M390V |
possibly damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,968 (GRCm39) |
Q238L |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,676,213 (GRCm39) |
E368G |
probably damaging |
Het |
| Zfr2 |
G |
T |
10: 81,087,170 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kifc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00720:Kifc3
|
APN |
8 |
95,864,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01904:Kifc3
|
APN |
8 |
95,864,585 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02019:Kifc3
|
APN |
8 |
95,834,168 (GRCm39) |
splice site |
probably benign |
|
|
IGL02090:Kifc3
|
APN |
8 |
95,829,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Kifc3
|
APN |
8 |
95,836,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Kifc3
|
APN |
8 |
95,836,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:Kifc3
|
APN |
8 |
95,836,582 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02720:Kifc3
|
APN |
8 |
95,834,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03030:Kifc3
|
APN |
8 |
95,829,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03327:Kifc3
|
APN |
8 |
95,835,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Kifc3
|
APN |
8 |
95,835,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Kifc3
|
UTSW |
8 |
95,828,100 (GRCm39) |
splice site |
probably null |
|
|
R0281:Kifc3
|
UTSW |
8 |
95,830,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0619:Kifc3
|
UTSW |
8 |
95,829,293 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0731:Kifc3
|
UTSW |
8 |
95,832,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1017:Kifc3
|
UTSW |
8 |
95,832,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1147:Kifc3
|
UTSW |
8 |
95,864,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Kifc3
|
UTSW |
8 |
95,864,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1257:Kifc3
|
UTSW |
8 |
95,832,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1472:Kifc3
|
UTSW |
8 |
95,864,541 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1480:Kifc3
|
UTSW |
8 |
95,836,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Kifc3
|
UTSW |
8 |
95,833,170 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2071:Kifc3
|
UTSW |
8 |
95,834,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2115:Kifc3
|
UTSW |
8 |
95,835,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Kifc3
|
UTSW |
8 |
95,830,656 (GRCm39) |
splice site |
probably benign |
|
|
R3704:Kifc3
|
UTSW |
8 |
95,830,656 (GRCm39) |
splice site |
probably benign |
|
|
R3705:Kifc3
|
UTSW |
8 |
95,830,656 (GRCm39) |
splice site |
probably benign |
|
|
R4223:Kifc3
|
UTSW |
8 |
95,836,610 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4463:Kifc3
|
UTSW |
8 |
95,828,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Kifc3
|
UTSW |
8 |
95,834,048 (GRCm39) |
splice site |
probably null |
|
|
R4980:Kifc3
|
UTSW |
8 |
95,853,177 (GRCm39) |
missense |
probably benign |
|
|
R5032:Kifc3
|
UTSW |
8 |
95,829,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Kifc3
|
UTSW |
8 |
95,836,844 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5421:Kifc3
|
UTSW |
8 |
95,836,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5556:Kifc3
|
UTSW |
8 |
95,835,087 (GRCm39) |
nonsense |
probably null |
|
|
R6845:Kifc3
|
UTSW |
8 |
95,835,307 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7136:Kifc3
|
UTSW |
8 |
95,830,077 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7196:Kifc3
|
UTSW |
8 |
95,833,239 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7404:Kifc3
|
UTSW |
8 |
95,830,092 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7441:Kifc3
|
UTSW |
8 |
95,864,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7784:Kifc3
|
UTSW |
8 |
95,837,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7861:Kifc3
|
UTSW |
8 |
95,834,165 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8440:Kifc3
|
UTSW |
8 |
95,836,422 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8754:Kifc3
|
UTSW |
8 |
95,829,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Kifc3
|
UTSW |
8 |
95,833,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Kifc3
|
UTSW |
8 |
95,853,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9149:Kifc3
|
UTSW |
8 |
95,853,317 (GRCm39) |
missense |
probably benign |
|
|
R9464:Kifc3
|
UTSW |
8 |
95,830,622 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9589:Kifc3
|
UTSW |
8 |
95,861,372 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0023:Kifc3
|
UTSW |
8 |
95,835,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAATGCCACCCTATGTGCTTTAC -3'
(R):5'- TCCAGACTAGGGATTGGGTGCAAG -3'
Sequencing Primer
(F):5'- tccacctgcctctgtcc -3'
(R):5'- TTGGGTGCAAGGCAAGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation