Incidental Mutation 'IGL02307:Kif24'
| ID |
287663 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif24
|
| Ensembl Gene |
ENSMUSG00000028438 |
| Gene Name |
kinesin family member 24 |
| Synonyms |
4933425J19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02307
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 41395274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 533
(Q533P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000072866]
[ENSMUST00000108055]
|
| AlphaFold |
Q6NWW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030148
AA Change: Q533P
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: Q533P
| 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 benign
Transcript: ENSMUST00000072866
|
| SMART Domains |
Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
64 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
SCOP:d1ifya_
|
387 |
430 |
5e-10 |
SMART |
|
PDB:4AE4|B
|
388 |
502 |
1e-74 |
PDB |
|
Blast:UBA
|
392 |
428 |
7e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108055
AA Change: Q667P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: Q667P
| 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: ENSMUST00000141951
|
| Coding Region Coverage |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,455,665 (GRCm39) |
C417R |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,229,946 (GRCm39) |
G256V |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,730,390 (GRCm39) |
K252E |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,859,686 (GRCm39) |
E985G |
probably damaging |
Het |
| Cdc23 |
A |
G |
18: 34,774,442 (GRCm39) |
I279T |
possibly damaging |
Het |
| Col16a1 |
C |
T |
4: 129,952,802 (GRCm39) |
P416L |
probably damaging |
Het |
| Coro1a |
T |
C |
7: 126,300,736 (GRCm39) |
D197G |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,647,357 (GRCm39) |
T351I |
possibly damaging |
Het |
| Fam76b |
A |
G |
9: 13,755,332 (GRCm39) |
N313S |
probably damaging |
Het |
| Fbxw20 |
C |
A |
9: 109,062,601 (GRCm39) |
W75L |
possibly damaging |
Het |
| Gjd2 |
T |
C |
2: 113,842,394 (GRCm39) |
T28A |
possibly damaging |
Het |
| Glyctk |
A |
C |
9: 106,032,963 (GRCm39) |
L350R |
possibly damaging |
Het |
| Gm20726 |
A |
T |
14: 54,870,060 (GRCm39) |
V237D |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,073,016 (GRCm39) |
K422R |
possibly damaging |
Het |
| Gpr22 |
C |
A |
12: 31,758,739 (GRCm39) |
C461F |
possibly damaging |
Het |
| Grhl2 |
A |
G |
15: 37,288,532 (GRCm39) |
T279A |
probably damaging |
Het |
| Gstm3 |
G |
A |
3: 107,874,929 (GRCm39) |
R108C |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,502,072 (GRCm39) |
T600A |
possibly damaging |
Het |
| Htra4 |
G |
A |
8: 25,523,710 (GRCm39) |
A285V |
probably damaging |
Het |
| Igkv14-100 |
C |
T |
6: 68,496,349 (GRCm39) |
P81S |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,438,809 (GRCm39) |
N496K |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,714,840 (GRCm39) |
R1667L |
probably benign |
Het |
| Lct |
T |
A |
1: 128,214,327 (GRCm39) |
H1815L |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,202,644 (GRCm39) |
Y27F |
probably benign |
Het |
| Mrpl15 |
A |
T |
1: 4,854,176 (GRCm39) |
H86Q |
possibly damaging |
Het |
| Myo10 |
C |
T |
15: 25,776,401 (GRCm39) |
|
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,229,201 (GRCm39) |
L893P |
probably damaging |
Het |
| Or4n4b |
A |
C |
14: 50,536,295 (GRCm39) |
I157S |
probably damaging |
Het |
| Or51a8 |
A |
T |
7: 102,550,086 (GRCm39) |
N171Y |
probably benign |
Het |
| Ovol1 |
T |
A |
19: 5,603,643 (GRCm39) |
D86V |
possibly damaging |
Het |
| Pacs2 |
T |
A |
12: 113,034,393 (GRCm39) |
M851K |
probably damaging |
Het |
| Pde1a |
A |
T |
2: 79,736,412 (GRCm39) |
M39K |
possibly damaging |
Het |
| Pdpn |
T |
C |
4: 143,000,550 (GRCm39) |
H94R |
possibly damaging |
Het |
| Plcg2 |
T |
A |
8: 118,306,635 (GRCm39) |
|
probably null |
Het |
| Pzp |
A |
T |
6: 128,466,049 (GRCm39) |
Y1210* |
probably null |
Het |
| Rnf148 |
G |
T |
6: 23,654,890 (GRCm39) |
S35R |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,004,534 (GRCm39) |
S1008T |
possibly damaging |
Het |
| Rps18-ps6 |
G |
T |
13: 97,896,871 (GRCm39) |
Q76K |
probably benign |
Het |
| Sis |
A |
T |
3: 72,819,167 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,992,986 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
A |
G |
17: 86,433,616 (GRCm39) |
L327P |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,169,390 (GRCm39) |
Y264* |
probably null |
Het |
| Swap70 |
A |
G |
7: 109,880,501 (GRCm39) |
E572G |
probably benign |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,901 (GRCm39) |
S127P |
probably damaging |
Het |
| Usf1 |
T |
A |
1: 171,243,314 (GRCm39) |
S30R |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,846,612 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,625,809 (GRCm39) |
L124* |
probably null |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,974 (GRCm39) |
N173S |
probably benign |
Het |
| Zic2 |
T |
C |
14: 122,714,046 (GRCm39) |
V320A |
possibly 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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation