Incidental Mutation 'R0345:Kif24'
| ID |
38375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif24
|
| Ensembl Gene |
ENSMUSG00000028438 |
| Gene Name |
kinesin family member 24 |
| Synonyms |
4933425J19Rik |
| MMRRC Submission |
038552-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41428413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 182
(D182E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000108055]
[ENSMUST00000154535]
|
| AlphaFold |
Q6NWW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030148
AA Change: D182E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: D182E
| 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: D182E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: D182E
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154535
|
| SMART Domains |
Protein: ENSMUSP00000119009
Gene: ENSMUSG00000028438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
2 |
62 |
6.3e-7 |
PFAM |
|
Blast:KISc
|
82 |
142 |
2e-20 |
BLAST |
|
| Meta Mutation Damage Score |
0.0745 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
C |
14: 59,377,079 (GRCm39) |
N105D |
possibly damaging |
Het |
| A2m |
T |
C |
6: 121,615,231 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,415,198 (GRCm39) |
N641S |
probably damaging |
Het |
| Aff4 |
T |
A |
11: 53,263,708 (GRCm39) |
S243T |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,923,764 (GRCm39) |
H713R |
unknown |
Het |
| Ap2a2 |
T |
A |
7: 141,211,206 (GRCm39) |
M914K |
probably damaging |
Het |
| Bcl7c |
A |
T |
7: 127,307,635 (GRCm39) |
M22K |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,256,663 (GRCm39) |
D1019V |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,012 (GRCm39) |
T80A |
probably benign |
Het |
| Chia1 |
T |
C |
3: 106,029,755 (GRCm39) |
Y130H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,808,872 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
G |
9: 54,942,878 (GRCm39) |
V132A |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,402,619 (GRCm39) |
D110G |
probably benign |
Het |
| Cyp2d37-ps |
A |
T |
15: 82,573,975 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah6 |
T |
C |
6: 72,998,240 (GRCm39) |
M4061V |
probably benign |
Het |
| Dydc2 |
C |
A |
14: 40,783,903 (GRCm39) |
M73I |
probably benign |
Het |
| Egflam |
G |
T |
15: 7,319,475 (GRCm39) |
|
probably null |
Het |
| Fam228b |
C |
T |
12: 4,798,351 (GRCm39) |
V151I |
possibly damaging |
Het |
| Fanca |
C |
T |
8: 124,031,552 (GRCm39) |
V380I |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,313,944 (GRCm39) |
L408S |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,507 (GRCm39) |
S66G |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,892,154 (GRCm39) |
V407D |
possibly damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,818 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,114,313 (GRCm39) |
N140K |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,204,701 (GRCm39) |
E1518G |
probably damaging |
Het |
| Myof |
A |
T |
19: 38,012,793 (GRCm39) |
N47K |
probably damaging |
Het |
| Nckap1 |
G |
T |
2: 80,375,321 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
C |
A |
11: 71,014,501 (GRCm39) |
G250W |
probably damaging |
Het |
| Nol4l |
T |
A |
2: 153,253,672 (GRCm39) |
S390C |
probably benign |
Het |
| Or2ag2b |
T |
C |
7: 106,417,908 (GRCm39) |
F206S |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,388 (GRCm39) |
M184L |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,685 (GRCm39) |
Q64R |
possibly damaging |
Het |
| Or5h26 |
G |
A |
16: 58,988,269 (GRCm39) |
P79L |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,061,367 (GRCm39) |
P2886T |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,425,568 (GRCm39) |
Y738C |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,016,164 (GRCm39) |
Y820C |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,718,019 (GRCm39) |
P98S |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,672 (GRCm39) |
A84V |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,728,170 (GRCm39) |
S373P |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,185,218 (GRCm39) |
V953I |
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,116 (GRCm39) |
I347V |
probably benign |
Het |
| St7l |
T |
C |
3: 104,803,125 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
A |
G |
17: 56,307,097 (GRCm39) |
V217A |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,108,670 (GRCm39) |
D215E |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,385,569 (GRCm39) |
V256I |
probably benign |
Het |
| Syt13 |
A |
C |
2: 92,776,412 (GRCm39) |
E233A |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,295,514 (GRCm39) |
E327V |
probably damaging |
Het |
| Tent5b |
A |
T |
4: 133,213,522 (GRCm39) |
Q131L |
probably benign |
Het |
| Themis3 |
A |
T |
17: 66,866,540 (GRCm39) |
|
probably null |
Het |
| Ttll13 |
T |
A |
7: 79,897,084 (GRCm39) |
D14E |
probably benign |
Het |
| Tubb2a |
A |
C |
13: 34,260,620 (GRCm39) |
D26E |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,584 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
T |
4: 144,844,195 (GRCm39) |
V2537E |
possibly damaging |
Het |
| Zscan10 |
T |
A |
17: 23,829,056 (GRCm39) |
F456I |
probably damaging |
Het |
| Zyg11b |
A |
G |
4: 108,123,604 (GRCm39) |
I121T |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCACTAAGCCATCAAGTTGCAC -3'
(R):5'- GTACACCAAGCCTCGGGAATTCAG -3'
Sequencing Primer
(F):5'- TCTGCTAGAGGACTACAGTAGACC -3'
(R):5'- ATCCAACTTCTCTGTGGATGAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation