Incidental Mutation 'R4358:Kif24'
ID |
324648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif24
|
Ensembl Gene |
ENSMUSG00000028438 |
Gene Name |
kinesin family member 24 |
Synonyms |
4933425J19Rik |
MMRRC Submission |
041110-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4358 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 41413827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000108055]
|
AlphaFold |
Q6NWW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030148
|
SMART Domains |
Protein: ENSMUSP00000030148 Gene: ENSMUSG00000028438
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 null
Transcript: ENSMUST00000108055
|
SMART Domains |
Protein: ENSMUSP00000103690 Gene: ENSMUSG00000028438
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154175
|
Meta Mutation Damage Score |
0.9493 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (48/49) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,926,663 (GRCm39) |
|
probably null |
Het |
Chil3 |
G |
A |
3: 106,067,815 (GRCm39) |
Q117* |
probably null |
Het |
Daglb |
T |
C |
5: 143,458,889 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,089,578 (GRCm39) |
R1163* |
probably null |
Het |
Ftsj3 |
G |
A |
11: 106,144,502 (GRCm39) |
A134V |
probably benign |
Het |
G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
Golga4 |
A |
G |
9: 118,380,946 (GRCm39) |
E507G |
probably benign |
Het |
Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
L3hypdh |
A |
T |
12: 72,124,198 (GRCm39) |
D247E |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,860,489 (GRCm39) |
N2999K |
probably damaging |
Het |
Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Mcm9 |
A |
C |
10: 53,413,749 (GRCm39) |
C444G |
probably benign |
Het |
Mecom |
G |
A |
3: 30,033,934 (GRCm39) |
Q246* |
probably null |
Het |
Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
Or2a7 |
T |
A |
6: 43,151,160 (GRCm39) |
M80K |
probably damaging |
Het |
Or8g26 |
G |
A |
9: 39,095,864 (GRCm39) |
C127Y |
probably damaging |
Het |
P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
Psmd13 |
G |
T |
7: 140,469,418 (GRCm39) |
|
probably benign |
Het |
Pygl |
G |
A |
12: 70,242,464 (GRCm39) |
S573L |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,646,529 (GRCm39) |
V794A |
probably benign |
Het |
Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,315,861 (GRCm39) |
D555G |
probably damaging |
Het |
Rptor |
G |
T |
11: 119,562,171 (GRCm39) |
E111D |
probably damaging |
Het |
Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
Scn4a |
G |
A |
11: 106,239,683 (GRCm39) |
|
probably null |
Het |
Scn8a |
G |
A |
15: 100,838,014 (GRCm39) |
A94T |
probably benign |
Het |
Slc26a6 |
T |
A |
9: 108,738,982 (GRCm39) |
C636S |
probably benign |
Het |
Slc38a11 |
T |
C |
2: 65,188,460 (GRCm39) |
K103R |
probably benign |
Het |
Sned1 |
T |
C |
1: 93,202,381 (GRCm39) |
L675P |
probably benign |
Het |
Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
Tmem132d |
G |
A |
5: 128,061,405 (GRCm39) |
T399M |
possibly damaging |
Het |
Zfp939 |
A |
G |
7: 39,123,144 (GRCm39) |
|
noncoding transcript |
Het |
Zfp951 |
T |
C |
5: 104,962,541 (GRCm39) |
K342E |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTAGTAGATGGCTAAGGAACAG -3'
(R):5'- ACCTATACCATGATAGGAACTCATC -3'
Sequencing Primer
(F):5'- ATTCCATCACTTGGGAAGCTGAGTC -3'
(R):5'- CAAAACCCAGGATTGTATGCTCTGG -3'
|
Posted On |
2015-06-24 |