Incidental Mutation 'R9172:Kif24'
ID |
696455 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif24
|
Ensembl Gene |
ENSMUSG00000028438 |
Gene Name |
kinesin family member 24 |
Synonyms |
4933425J19Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9172 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41400442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 499
(T499A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000108055]
|
AlphaFold |
Q6NWW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030148
AA Change: T365A
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000030148 Gene: ENSMUSG00000028438 AA Change: T365A
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: ENSMUST00000108055
AA Change: T499A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103690 Gene: ENSMUSG00000028438 AA Change: T499A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (63/63) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
A |
T |
2: 93,691,833 (GRCm39) |
L332Q |
probably damaging |
Het |
Adcy1 |
A |
G |
11: 7,110,317 (GRCm39) |
N855D |
probably damaging |
Het |
Adgrl3 |
T |
A |
5: 81,922,251 (GRCm39) |
C1199S |
probably benign |
Het |
Alyref |
G |
A |
11: 120,486,842 (GRCm39) |
R140C |
probably benign |
Het |
Arhgap26 |
A |
T |
18: 39,378,382 (GRCm39) |
I92F |
probably damaging |
Het |
Atp9b |
G |
A |
18: 80,960,993 (GRCm39) |
R73* |
probably null |
Het |
Btaf1 |
G |
A |
19: 36,977,630 (GRCm39) |
A1483T |
probably damaging |
Het |
Cmtr2 |
T |
C |
8: 110,948,761 (GRCm39) |
L357P |
probably damaging |
Het |
Commd7 |
A |
T |
2: 153,470,474 (GRCm39) |
L51Q |
possibly damaging |
Het |
Cpd |
T |
A |
11: 76,675,252 (GRCm39) |
I1290L |
probably benign |
Het |
Cry2 |
C |
A |
2: 92,243,993 (GRCm39) |
E393D |
probably damaging |
Het |
Ctsm |
A |
T |
13: 61,685,643 (GRCm39) |
M74K |
|
Het |
Dnai7 |
A |
G |
6: 145,123,175 (GRCm39) |
F564L |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,031,771 (GRCm39) |
Y3491C |
probably damaging |
Het |
Erc1 |
A |
C |
6: 119,801,842 (GRCm39) |
N58K |
possibly damaging |
Het |
Fbxw21 |
T |
C |
9: 108,975,764 (GRCm39) |
T211A |
probably benign |
Het |
Fcsk |
A |
G |
8: 111,610,557 (GRCm39) |
W949R |
probably damaging |
Het |
Fry |
T |
C |
5: 150,336,793 (GRCm39) |
V1388A |
probably benign |
Het |
Gca |
T |
G |
2: 62,520,368 (GRCm39) |
I176S |
probably damaging |
Het |
Gimap7 |
A |
T |
6: 48,700,761 (GRCm39) |
K116* |
probably null |
Het |
Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,447 (GRCm39) |
|
probably benign |
Het |
Gm9195 |
A |
C |
14: 72,711,154 (GRCm39) |
L428R |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,756,255 (GRCm39) |
I490T |
possibly damaging |
Het |
Mbtps1 |
G |
A |
8: 120,260,108 (GRCm39) |
T413I |
probably damaging |
Het |
Med4 |
A |
T |
14: 73,751,365 (GRCm39) |
S105C |
probably benign |
Het |
Mgat1 |
G |
A |
11: 49,151,910 (GRCm39) |
R131Q |
probably damaging |
Het |
Mroh4 |
T |
C |
15: 74,477,961 (GRCm39) |
*984W |
probably null |
Het |
Mybpc1 |
T |
C |
10: 88,379,615 (GRCm39) |
E628G |
possibly damaging |
Het |
Myh8 |
C |
T |
11: 67,183,260 (GRCm39) |
P713L |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,732,369 (GRCm39) |
D706G |
probably benign |
Het |
Nbas |
T |
A |
12: 13,424,751 (GRCm39) |
C997S |
possibly damaging |
Het |
Nkx2-1 |
C |
A |
12: 56,581,752 (GRCm39) |
G32C |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,112,653 (GRCm39) |
T466A |
probably benign |
Het |
Opa1 |
C |
T |
16: 29,439,232 (GRCm39) |
R683C |
probably benign |
Het |
Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
Or5p63 |
T |
C |
7: 107,811,169 (GRCm39) |
E189G |
probably benign |
Het |
Or8k38 |
T |
A |
2: 86,487,879 (GRCm39) |
I308L |
probably benign |
Het |
Ppfibp2 |
T |
A |
7: 107,337,525 (GRCm39) |
L609* |
probably null |
Het |
Pygo2 |
T |
A |
3: 89,340,617 (GRCm39) |
D338E |
possibly damaging |
Het |
Pzp |
A |
T |
6: 128,502,172 (GRCm39) |
M59K |
probably benign |
Het |
Reln |
A |
G |
5: 22,155,815 (GRCm39) |
|
probably null |
Het |
Ripor1 |
A |
G |
8: 106,347,833 (GRCm39) |
D1097G |
unknown |
Het |
Rmdn3 |
T |
C |
2: 118,968,863 (GRCm39) |
K443E |
probably benign |
Het |
Rnf145 |
A |
G |
11: 44,448,262 (GRCm39) |
D373G |
possibly damaging |
Het |
Sec23b |
A |
T |
2: 144,401,179 (GRCm39) |
E13D |
probably benign |
Het |
Semp2l1 |
G |
T |
1: 32,585,165 (GRCm39) |
H248Q |
probably benign |
Het |
Slc39a6 |
A |
G |
18: 24,715,399 (GRCm39) |
F707S |
probably damaging |
Het |
Sox11 |
G |
A |
12: 27,391,536 (GRCm39) |
A291V |
possibly damaging |
Het |
Spart |
T |
A |
3: 55,032,267 (GRCm39) |
V367D |
possibly damaging |
Het |
Spata31e3 |
A |
G |
13: 50,401,417 (GRCm39) |
F303S |
probably benign |
Het |
Strap |
A |
T |
6: 137,718,365 (GRCm39) |
K156N |
probably benign |
Het |
Stxbp5 |
T |
A |
10: 9,645,152 (GRCm39) |
I951F |
possibly damaging |
Het |
Taar7a |
T |
C |
10: 23,868,677 (GRCm39) |
I235V |
probably benign |
Het |
Tek |
T |
A |
4: 94,692,583 (GRCm39) |
N230K |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,325,520 (GRCm39) |
C469* |
probably null |
Het |
Vcan |
T |
C |
13: 89,828,050 (GRCm39) |
H3132R |
probably damaging |
Het |
Vmn2r24 |
A |
G |
6: 123,783,432 (GRCm39) |
D544G |
probably damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,186,403 (GRCm39) |
M94K |
possibly damaging |
Het |
Vps33a |
T |
C |
5: 123,674,604 (GRCm39) |
T388A |
probably benign |
Het |
Vta1 |
A |
G |
10: 14,551,743 (GRCm39) |
I152T |
probably damaging |
Het |
Vtcn1 |
A |
G |
3: 100,799,865 (GRCm39) |
D242G |
probably benign |
Het |
Zfp12 |
T |
A |
5: 143,231,220 (GRCm39) |
C548S |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,567,323 (GRCm39) |
D546G |
probably benign |
Het |
Zfp324 |
T |
A |
7: 12,704,689 (GRCm39) |
C293S |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,984,626 (GRCm39) |
K159E |
probably benign |
Het |
Zscan4c |
A |
T |
7: 10,743,819 (GRCm39) |
I473F |
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 |
|
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 |
|
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 |
|
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'- ACACAGAGAGTTCCTGGAGG -3'
(R):5'- ACAGGGCAGTTGTCTTTCTC -3'
Sequencing Primer
(F):5'- TGGAGGGAAAATGACACCTACCTTC -3'
(R):5'- GGTGCTTGAAACTAAACTCTGGTCTC -3'
|
Posted On |
2022-02-07 |