Incidental Mutation 'R7437:Kif24'
| ID |
576662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif24
|
| Ensembl Gene |
ENSMUSG00000028438 |
| Gene Name |
kinesin family member 24 |
| Synonyms |
4933425J19Rik |
| MMRRC Submission |
045513-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7437 (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 41404687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 438
(T438A)
|
| 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: T304A
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: T304A
| 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 |
possibly damaging
Transcript: ENSMUST00000108055
AA Change: T438A
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: T438A
| 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 |
|
| Meta Mutation Damage Score |
0.0872 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,619,472 (GRCm39) |
I1192F |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,941,790 (GRCm39) |
S1160P |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,979,721 (GRCm39) |
I297V |
probably damaging |
Het |
| Aebp1 |
T |
A |
11: 5,819,757 (GRCm39) |
F687L |
possibly damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,314,930 (GRCm39) |
T28A |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,842,618 (GRCm39) |
K412N |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 69,978,396 (GRCm39) |
I123V |
probably benign |
Het |
| Atp10a |
G |
A |
7: 58,308,288 (GRCm39) |
R29H |
unknown |
Het |
| C4b |
T |
C |
17: 34,953,707 (GRCm39) |
D967G |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,795,429 (GRCm39) |
N416S |
probably damaging |
Het |
| Ccna2 |
T |
C |
3: 36,625,239 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,173,582 (GRCm39) |
L371P |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,230,753 (GRCm39) |
C958* |
probably null |
Het |
| Crlf2 |
T |
C |
5: 109,702,839 (GRCm39) |
D318G |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,658,072 (GRCm39) |
N14D |
probably benign |
Het |
| Dars1 |
A |
G |
1: 128,299,941 (GRCm39) |
Y348H |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,389,453 (GRCm39) |
E813G |
probably damaging |
Het |
| Ebi3 |
T |
A |
17: 56,261,410 (GRCm39) |
M102K |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,066,493 (GRCm39) |
D2131G |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,840,775 (GRCm39) |
L1823H |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,583,569 (GRCm39) |
M309T |
probably benign |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,273,067 (GRCm39) |
S470P |
possibly damaging |
Het |
| Kcnh5 |
C |
T |
12: 75,184,417 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
G |
A |
7: 139,488,959 (GRCm39) |
G205R |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,712,657 (GRCm39) |
Y3226N |
|
Het |
| Lrp1b |
G |
T |
2: 40,712,658 (GRCm39) |
D3225E |
|
Het |
| Megf10 |
G |
C |
18: 57,395,203 (GRCm39) |
G522R |
probably damaging |
Het |
| Nectin2 |
A |
T |
7: 19,483,193 (GRCm39) |
L12* |
probably null |
Het |
| Ngef |
A |
T |
1: 87,408,327 (GRCm39) |
M580K |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,767,046 (GRCm39) |
M110K |
possibly damaging |
Het |
| Or10ag56 |
A |
G |
2: 87,139,687 (GRCm39) |
M205V |
probably benign |
Het |
| Or1e1c |
A |
G |
11: 73,265,844 (GRCm39) |
S93G |
probably benign |
Het |
| Or5an1b |
T |
C |
19: 12,299,472 (GRCm39) |
N240D |
probably damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,728 (GRCm39) |
L702P |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,145 (GRCm39) |
I312V |
probably benign |
Het |
| Pglyrp3 |
A |
G |
3: 91,937,985 (GRCm39) |
N265D |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,757,421 (GRCm39) |
V1539A |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,981,053 (GRCm39) |
C194F |
possibly damaging |
Het |
| Rcn2 |
T |
C |
9: 55,965,353 (GRCm39) |
L274P |
probably damaging |
Het |
| Rpp30 |
A |
G |
19: 36,081,838 (GRCm39) |
E267G |
possibly damaging |
Het |
| Rundc3a |
A |
G |
11: 102,289,230 (GRCm39) |
M134V |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,146,004 (GRCm39) |
Q343L |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,199,444 (GRCm39) |
F359Y |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 95,110,994 (GRCm39) |
L604P |
probably benign |
Het |
| Strn3 |
A |
T |
12: 51,656,946 (GRCm39) |
H777Q |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,409,616 (GRCm39) |
W284* |
probably null |
Het |
| Tlcd5 |
C |
T |
9: 43,023,080 (GRCm39) |
W91* |
probably null |
Het |
| Tmem181a |
A |
G |
17: 6,353,540 (GRCm39) |
D384G |
possibly damaging |
Het |
| Txndc12 |
T |
C |
4: 108,713,368 (GRCm39) |
S77P |
probably damaging |
Het |
| Wnt16 |
G |
A |
6: 22,288,560 (GRCm39) |
V19M |
probably benign |
Het |
| Zfp932 |
T |
A |
5: 110,157,880 (GRCm39) |
M526K |
probably benign |
Het |
| Zfp959 |
G |
T |
17: 56,205,334 (GRCm39) |
C457F |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,863 (GRCm39) |
S300P |
probably benign |
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 |
|
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'- CCAACAATAGGTCATTACTTCATGG -3'
(R):5'- ATGCCAGGTCTCTACTGCTTAC -3'
Sequencing Primer
(F):5'- CATGGTTAATCAACTGATGGCAC -3'
(R):5'- CAGGTGATCTTAAAGGGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation