Incidental Mutation 'R1634:Kif24'
ID |
172966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif24
|
Ensembl Gene |
ENSMUSG00000028438 |
Gene Name |
kinesin family member 24 |
Synonyms |
4933425J19Rik |
MMRRC Submission |
039671-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1634 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41393529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1249
(S1249P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000072866]
[ENSMUST00000108055]
[ENSMUST00000108060]
|
AlphaFold |
Q6NWW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030148
AA Change: S1115P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000030148 Gene: ENSMUSG00000028438 AA Change: S1115P
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: S1249P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000103690 Gene: ENSMUSG00000028438 AA Change: S1249P
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 |
probably benign
Transcript: ENSMUST00000108060
|
SMART Domains |
Protein: ENSMUSP00000103695 Gene: ENSMUSG00000028437
Domain | Start | End | E-Value | Type |
coiled coil region
|
64 |
95 |
N/A |
INTRINSIC |
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
PDB:4AE4|B
|
362 |
441 |
2e-50 |
PDB |
SCOP:d1exja1
|
394 |
437 |
1e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132235
|
SMART Domains |
Protein: ENSMUSP00000123491 Gene: ENSMUSG00000028437
Domain | Start | End | E-Value | Type |
SCOP:d1ifya_
|
68 |
111 |
2e-11 |
SMART |
PDB:4AE4|B
|
69 |
140 |
2e-44 |
PDB |
Blast:UBA
|
73 |
109 |
7e-15 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141951
|
Meta Mutation Damage Score |
0.0582 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.4%
|
Validation Efficiency |
97% (67/69) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
T |
14: 66,295,180 (GRCm39) |
F222I |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,105,127 (GRCm39) |
C173S |
possibly damaging |
Het |
Ahi1 |
T |
C |
10: 20,841,592 (GRCm39) |
V293A |
probably damaging |
Het |
AI182371 |
A |
T |
2: 34,976,497 (GRCm39) |
Y223N |
probably damaging |
Het |
Asmt |
C |
A |
X: 169,109,564 (GRCm39) |
F181L |
probably damaging |
Het |
Axin1 |
T |
A |
17: 26,406,965 (GRCm39) |
H519Q |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,715,632 (GRCm39) |
V660E |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,809 (GRCm39) |
R852H |
probably benign |
Het |
Cpne4 |
T |
C |
9: 104,866,778 (GRCm39) |
V230A |
possibly damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,408,656 (GRCm39) |
N988K |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,051,556 (GRCm39) |
I767T |
probably damaging |
Het |
Dgki |
A |
G |
6: 36,892,425 (GRCm39) |
M851T |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,932,072 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
A |
G |
9: 45,584,047 (GRCm39) |
E504G |
probably damaging |
Het |
Dzank1 |
G |
A |
2: 144,323,589 (GRCm39) |
A618V |
probably benign |
Het |
Entrep3 |
A |
C |
3: 89,095,401 (GRCm39) |
Y511S |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,158,510 (GRCm39) |
S3403C |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,175,545 (GRCm39) |
V1723I |
probably benign |
Het |
Flt1 |
A |
T |
5: 147,613,240 (GRCm39) |
F334I |
probably damaging |
Het |
Galnt12 |
G |
T |
4: 47,108,585 (GRCm39) |
|
probably null |
Het |
Gzmc |
T |
C |
14: 56,469,737 (GRCm39) |
I188V |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,380,820 (GRCm39) |
S3566P |
possibly damaging |
Het |
Hoxb4 |
C |
A |
11: 96,211,099 (GRCm39) |
|
probably benign |
Het |
Idh3b |
C |
T |
2: 130,123,665 (GRCm39) |
V141I |
probably benign |
Het |
Leo1 |
T |
C |
9: 75,373,542 (GRCm39) |
Y656H |
possibly damaging |
Het |
Map3k20 |
G |
A |
2: 72,240,521 (GRCm39) |
W339* |
probably null |
Het |
Map3k5 |
T |
C |
10: 20,012,657 (GRCm39) |
V1259A |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,698,812 (GRCm39) |
D631G |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,499,706 (GRCm39) |
S713P |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,350,984 (GRCm39) |
V571E |
possibly damaging |
Het |
Nell1 |
A |
G |
7: 50,498,306 (GRCm39) |
D574G |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,967,722 (GRCm39) |
Y392C |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,286,688 (GRCm39) |
L181P |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,231 (GRCm39) |
Y649F |
probably benign |
Het |
Or1f19 |
A |
G |
16: 3,411,073 (GRCm39) |
D271G |
probably benign |
Het |
Or4k45 |
T |
C |
2: 111,395,691 (GRCm39) |
M33V |
probably benign |
Het |
Prkcg |
A |
G |
7: 3,371,986 (GRCm39) |
D484G |
probably damaging |
Het |
Rab27a |
T |
C |
9: 72,982,851 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rgl1 |
C |
T |
1: 152,400,523 (GRCm39) |
R624H |
probably damaging |
Het |
Ric8b |
G |
A |
10: 84,806,612 (GRCm39) |
G159D |
probably damaging |
Het |
Sbno2 |
C |
A |
10: 79,896,468 (GRCm39) |
A880S |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,318,361 (GRCm39) |
S1477P |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,139,243 (GRCm39) |
|
probably benign |
Het |
Snx14 |
T |
C |
9: 88,267,792 (GRCm39) |
I714M |
probably benign |
Het |
Snx14 |
T |
C |
9: 88,289,543 (GRCm39) |
|
probably benign |
Het |
Sphk2 |
T |
A |
7: 45,360,964 (GRCm39) |
T347S |
probably benign |
Het |
Spns1 |
C |
T |
7: 125,970,343 (GRCm39) |
|
probably benign |
Het |
Susd2 |
A |
G |
10: 75,473,389 (GRCm39) |
V675A |
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,044,390 (GRCm39) |
D566V |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,123,830 (GRCm39) |
I464N |
possibly damaging |
Het |
Tex261 |
A |
T |
6: 83,752,004 (GRCm39) |
I49N |
possibly damaging |
Het |
Tjp1 |
A |
G |
7: 64,952,700 (GRCm39) |
F1545L |
possibly damaging |
Het |
Tmem176b |
A |
G |
6: 48,811,500 (GRCm39) |
S216P |
probably damaging |
Het |
Topaz1 |
C |
T |
9: 122,609,740 (GRCm39) |
|
probably benign |
Het |
Tra2a |
C |
T |
6: 49,227,891 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,553,126 (GRCm39) |
F22794S |
possibly damaging |
Het |
Uox |
G |
A |
3: 146,318,138 (GRCm39) |
W93* |
probably null |
Het |
Zan |
A |
T |
5: 137,411,052 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,364,158 (GRCm39) |
R750* |
probably null |
Het |
Zfp638 |
A |
T |
6: 83,956,894 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTCTCCCAGTGAAGAGGCAAG -3'
(R):5'- GATGACCGTGCTGAAGAGACTGAAC -3'
Sequencing Primer
(F):5'- GAGGCAAGCTCCAGTCTAAGC -3'
(R):5'- ATGCCGGAGTACCCTATTCTAC -3'
|
Posted On |
2014-04-24 |