Incidental Mutation 'R6278:Kif24'
ID |
507767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif24
|
Ensembl Gene |
ENSMUSG00000028438 |
Gene Name |
kinesin family member 24 |
Synonyms |
4933425J19Rik |
MMRRC Submission |
044448-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6278 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41423498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 251
(V251E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000108055]
|
AlphaFold |
Q6NWW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030148
AA Change: V251E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030148 Gene: ENSMUSG00000028438 AA Change: V251E
Domain | Start | End | E-Value | Type |
KISc
|
216 |
413 |
2.51e-29 |
SMART |
low complexity region
|
481 |
499 |
N/A |
INTRINSIC |
low complexity region
|
563 |
574 |
N/A |
INTRINSIC |
low complexity region
|
626 |
644 |
N/A |
INTRINSIC |
low complexity region
|
678 |
695 |
N/A |
INTRINSIC |
low complexity region
|
1119 |
1130 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108055
AA Change: V251E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103690 Gene: ENSMUSG00000028438 AA Change: V251E
Domain | Start | End | E-Value | Type |
Blast:KISc
|
82 |
205 |
1e-47 |
BLAST |
KISc
|
216 |
547 |
3.09e-134 |
SMART |
low complexity region
|
615 |
633 |
N/A |
INTRINSIC |
low complexity region
|
697 |
708 |
N/A |
INTRINSIC |
low complexity region
|
760 |
778 |
N/A |
INTRINSIC |
low complexity region
|
812 |
829 |
N/A |
INTRINSIC |
low complexity region
|
1253 |
1264 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154175
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
Validation Efficiency |
100% (49/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kinesins, such as KIF24, are microtubule-dependent ATPases that function as molecular motors. They play important roles in intracellular vesicle transport and cell division (summary by Venturelli et al., 2010 [PubMed 20670673]).[supplied by OMIM, Feb 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
T |
C |
7: 119,373,072 (GRCm39) |
S192P |
probably damaging |
Het |
Amy1 |
T |
A |
3: 113,355,339 (GRCm39) |
Y348F |
probably damaging |
Het |
Brpf3 |
C |
A |
17: 29,040,258 (GRCm39) |
P893H |
probably benign |
Het |
Cage1 |
T |
C |
13: 38,200,395 (GRCm39) |
T702A |
possibly damaging |
Het |
Cdk11b |
A |
G |
4: 155,734,060 (GRCm39) |
|
probably benign |
Het |
Cdk5rap3 |
T |
C |
11: 96,802,729 (GRCm39) |
Y207C |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,183,394 (GRCm39) |
K465R |
probably damaging |
Het |
Cldn14 |
A |
C |
16: 93,716,486 (GRCm39) |
L120R |
possibly damaging |
Het |
Cyp2c69 |
A |
T |
19: 39,831,507 (GRCm39) |
C435* |
probably null |
Het |
Dmxl2 |
T |
A |
9: 54,323,046 (GRCm39) |
E1446V |
probably damaging |
Het |
Dnah17 |
T |
A |
11: 118,017,116 (GRCm39) |
D208V |
probably damaging |
Het |
Eif4g3 |
G |
T |
4: 137,915,394 (GRCm39) |
G1430V |
possibly damaging |
Het |
Eif5 |
T |
A |
12: 111,509,227 (GRCm39) |
D284E |
probably benign |
Het |
Fam47e |
T |
C |
5: 92,710,376 (GRCm39) |
L125P |
probably damaging |
Het |
Far1 |
A |
G |
7: 113,167,344 (GRCm39) |
I476M |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,819,242 (GRCm39) |
I4992L |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,899,698 (GRCm39) |
N1028K |
possibly damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,004,941 (GRCm39) |
K615E |
probably damaging |
Het |
Gykl1 |
G |
T |
18: 52,828,280 (GRCm39) |
S496I |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,573,170 (GRCm39) |
|
probably null |
Het |
Itga2 |
T |
A |
13: 114,982,424 (GRCm39) |
H1027L |
probably benign |
Het |
Nupr1 |
T |
C |
7: 126,224,518 (GRCm39) |
Y30C |
probably damaging |
Het |
Or5b119 |
T |
A |
19: 13,457,119 (GRCm39) |
M148L |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,342 (GRCm39) |
I153V |
probably benign |
Het |
Or5w14 |
A |
T |
2: 87,541,815 (GRCm39) |
L145* |
probably null |
Het |
Or8g26 |
T |
A |
9: 39,095,594 (GRCm39) |
I40N |
probably damaging |
Het |
P2ry1 |
T |
A |
3: 60,911,215 (GRCm39) |
I118N |
possibly damaging |
Het |
Pcdh1 |
C |
T |
18: 38,332,263 (GRCm39) |
V247M |
probably benign |
Het |
Pdia5 |
A |
G |
16: 35,250,293 (GRCm39) |
V222A |
possibly damaging |
Het |
Plce1 |
G |
A |
19: 38,713,495 (GRCm39) |
|
probably null |
Het |
Ppm1m |
T |
C |
9: 106,074,427 (GRCm39) |
R239G |
probably damaging |
Het |
Pramel30 |
C |
T |
4: 144,056,837 (GRCm39) |
P7S |
probably damaging |
Het |
Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
Rpl6 |
T |
C |
5: 121,346,912 (GRCm39) |
I269T |
possibly damaging |
Het |
Scoc |
T |
C |
8: 84,184,965 (GRCm39) |
S2G |
unknown |
Het |
Spesp1 |
A |
T |
9: 62,179,921 (GRCm39) |
M329K |
probably benign |
Het |
Ston2 |
T |
C |
12: 91,615,104 (GRCm39) |
K435E |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,026,149 (GRCm39) |
L69F |
probably damaging |
Het |
Tigd5 |
T |
C |
15: 75,781,842 (GRCm39) |
I68T |
probably damaging |
Het |
Tmcc2 |
A |
T |
1: 132,286,720 (GRCm39) |
M577K |
probably damaging |
Het |
Tmem131l |
A |
T |
3: 83,849,798 (GRCm39) |
I263N |
possibly damaging |
Het |
Trip13 |
T |
C |
13: 74,061,439 (GRCm39) |
E408G |
probably benign |
Het |
Txnl4b |
T |
C |
8: 110,295,735 (GRCm39) |
|
probably null |
Het |
Ube2o |
T |
C |
11: 116,430,369 (GRCm39) |
E1123G |
probably damaging |
Het |
Vmn1r123 |
A |
G |
7: 20,896,774 (GRCm39) |
H222R |
possibly damaging |
Het |
Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,567,863 (GRCm39) |
V1052D |
probably benign |
Het |
|
Other mutations in Kif24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Kif24
|
APN |
4 |
41,413,826 (GRCm39) |
splice site |
probably null |
|
IGL00787:Kif24
|
APN |
4 |
41,397,583 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01065:Kif24
|
APN |
4 |
41,423,639 (GRCm39) |
unclassified |
probably benign |
|
IGL01716:Kif24
|
APN |
4 |
41,393,454 (GRCm39) |
missense |
probably benign |
0.40 |
IGL01796:Kif24
|
APN |
4 |
41,392,978 (GRCm39) |
unclassified |
probably benign |
|
IGL02307:Kif24
|
APN |
4 |
41,395,274 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03061:Kif24
|
APN |
4 |
41,394,323 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03080:Kif24
|
APN |
4 |
41,394,417 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03100:Kif24
|
APN |
4 |
41,394,446 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0226:Kif24
|
UTSW |
4 |
41,414,939 (GRCm39) |
nonsense |
probably null |
|
R0345:Kif24
|
UTSW |
4 |
41,428,413 (GRCm39) |
missense |
probably benign |
0.01 |
R0365:Kif24
|
UTSW |
4 |
41,428,731 (GRCm39) |
missense |
probably benign |
0.06 |
R0366:Kif24
|
UTSW |
4 |
41,428,717 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0579:Kif24
|
UTSW |
4 |
41,393,706 (GRCm39) |
missense |
probably damaging |
0.97 |
R0682:Kif24
|
UTSW |
4 |
41,428,620 (GRCm39) |
missense |
probably benign |
0.01 |
R1611:Kif24
|
UTSW |
4 |
41,423,552 (GRCm39) |
missense |
probably benign |
0.02 |
R1634:Kif24
|
UTSW |
4 |
41,393,529 (GRCm39) |
missense |
probably benign |
0.02 |
R1772:Kif24
|
UTSW |
4 |
41,409,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Kif24
|
UTSW |
4 |
41,392,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3833:Kif24
|
UTSW |
4 |
41,395,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R3849:Kif24
|
UTSW |
4 |
41,404,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Kif24
|
UTSW |
4 |
41,413,827 (GRCm39) |
critical splice donor site |
probably null |
|
R4357:Kif24
|
UTSW |
4 |
41,413,827 (GRCm39) |
critical splice donor site |
probably null |
|
R4358:Kif24
|
UTSW |
4 |
41,413,827 (GRCm39) |
critical splice donor site |
probably null |
|
R4359:Kif24
|
UTSW |
4 |
41,413,827 (GRCm39) |
critical splice donor site |
probably null |
|
R4406:Kif24
|
UTSW |
4 |
41,393,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R4580:Kif24
|
UTSW |
4 |
41,395,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Kif24
|
UTSW |
4 |
41,397,545 (GRCm39) |
critical splice donor site |
probably null |
|
R4921:Kif24
|
UTSW |
4 |
41,394,329 (GRCm39) |
missense |
probably damaging |
0.99 |
R4935:Kif24
|
UTSW |
4 |
41,394,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R5288:Kif24
|
UTSW |
4 |
41,395,373 (GRCm39) |
missense |
probably benign |
0.09 |
R5398:Kif24
|
UTSW |
4 |
41,394,401 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5885:Kif24
|
UTSW |
4 |
41,423,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R5901:Kif24
|
UTSW |
4 |
41,428,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R5919:Kif24
|
UTSW |
4 |
41,394,477 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5945:Kif24
|
UTSW |
4 |
41,428,670 (GRCm39) |
nonsense |
probably null |
|
R6291:Kif24
|
UTSW |
4 |
41,413,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R6891:Kif24
|
UTSW |
4 |
41,394,168 (GRCm39) |
missense |
probably benign |
0.33 |
R7178:Kif24
|
UTSW |
4 |
41,395,085 (GRCm39) |
missense |
probably benign |
0.00 |
R7437:Kif24
|
UTSW |
4 |
41,404,687 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7453:Kif24
|
UTSW |
4 |
41,394,673 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7543:Kif24
|
UTSW |
4 |
41,413,993 (GRCm39) |
nonsense |
probably null |
|
R7548:Kif24
|
UTSW |
4 |
41,423,601 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8167:Kif24
|
UTSW |
4 |
41,392,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8305:Kif24
|
UTSW |
4 |
41,428,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R8407:Kif24
|
UTSW |
4 |
41,394,488 (GRCm39) |
missense |
probably benign |
0.05 |
R8722:Kif24
|
UTSW |
4 |
41,394,233 (GRCm39) |
missense |
probably benign |
|
R8916:Kif24
|
UTSW |
4 |
41,394,963 (GRCm39) |
missense |
probably benign |
0.23 |
R9093:Kif24
|
UTSW |
4 |
41,428,691 (GRCm39) |
missense |
probably benign |
|
R9172:Kif24
|
UTSW |
4 |
41,400,442 (GRCm39) |
missense |
probably benign |
0.44 |
R9468:Kif24
|
UTSW |
4 |
41,404,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R9687:Kif24
|
UTSW |
4 |
41,428,546 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Kif24
|
UTSW |
4 |
41,395,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAGAGCCTCATTGCATAAAGC -3'
(R):5'- TGTACTGACACTTTGACCATTTAAG -3'
Sequencing Primer
(F):5'- TCTAGCAAGGGTGAGATCCTATC -3'
(R):5'- CCTCAGAGAATCCTTGGA -3'
|
Posted On |
2018-03-15 |