Incidental Mutation 'R5885:Kif24'
| ID |
456027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif24
|
| Ensembl Gene |
ENSMUSG00000028438 |
| Gene Name |
kinesin family member 24 |
| Synonyms |
4933425J19Rik |
| MMRRC Submission |
043237-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5885 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41423463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 263
(Y263N)
|
| 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: Y263N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: Y263N
| 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: Y263N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: Y263N
| 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: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
T |
A |
15: 20,666,190 (GRCm39) |
M184L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,572,390 (GRCm39) |
S4924T |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,463,548 (GRCm39) |
M1027K |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,466,277 (GRCm39) |
K510I |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 117,876,628 (GRCm39) |
I48N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,668,927 (GRCm39) |
I720V |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,134,972 (GRCm39) |
D535G |
probably damaging |
Het |
| Fam47e |
A |
G |
5: 92,713,827 (GRCm39) |
K152R |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,667 (GRCm39) |
I260K |
probably benign |
Het |
| Fcgr3 |
A |
G |
1: 170,885,280 (GRCm39) |
V115A |
probably damaging |
Het |
| Fgf12 |
G |
T |
16: 28,217,046 (GRCm39) |
D98E |
possibly damaging |
Het |
| Flt3 |
T |
C |
5: 147,286,439 (GRCm39) |
T716A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr141b |
A |
T |
13: 19,913,519 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,579,769 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Ifna4 |
T |
A |
4: 88,760,599 (GRCm39) |
W168R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,670,132 (GRCm39) |
Y752C |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,547 (GRCm39) |
|
probably null |
Het |
| Lama5 |
G |
T |
2: 179,843,624 (GRCm39) |
T441K |
probably damaging |
Het |
| Lrrc47 |
T |
A |
4: 154,100,429 (GRCm39) |
V335D |
possibly damaging |
Het |
| Map1b |
A |
T |
13: 99,566,589 (GRCm39) |
I2044N |
unknown |
Het |
| Mast2 |
C |
T |
4: 116,172,035 (GRCm39) |
G638S |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,503 (GRCm39) |
S1420P |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,811 (GRCm39) |
T184A |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,822,944 (GRCm39) |
I577V |
probably benign |
Het |
| Nipal3 |
A |
T |
4: 135,199,288 (GRCm39) |
V186E |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,111,205 (GRCm39) |
T162M |
probably damaging |
Het |
| Plod2 |
T |
A |
9: 92,488,709 (GRCm39) |
|
probably null |
Het |
| Psg22 |
T |
A |
7: 18,452,257 (GRCm39) |
L19Q |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,711 (GRCm39) |
N245Y |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,016,246 (GRCm39) |
I539F |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,143 (GRCm39) |
L59P |
probably damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,598,017 (GRCm39) |
R137W |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,985,321 (GRCm39) |
A458V |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,907,144 (GRCm39) |
|
probably benign |
Het |
| Stox1 |
C |
A |
10: 62,500,627 (GRCm39) |
L644F |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,806,501 (GRCm39) |
G213E |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,254 (GRCm39) |
L239F |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,731,603 (GRCm39) |
V854E |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,168,035 (GRCm39) |
Y763C |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,360 (GRCm39) |
W128R |
probably damaging |
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 |
|
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 |
|
|
R6278:Kif24
|
UTSW |
4 |
41,423,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTAGAGCCTCATTGCATAAAGC -3'
(R):5'- CAGATCACCTCAGAGAATCCTTGG -3'
Sequencing Primer
(F):5'- TCTAGCAAGGGTGAGATCCTATC -3'
(R):5'- CCTCAGAGAATCCTTGGACTGAAATG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation