Incidental Mutation 'R0579:Kif24'
| ID |
56350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif24
|
| Ensembl Gene |
ENSMUSG00000028438 |
| Gene Name |
kinesin family member 24 |
| Synonyms |
4933425J19Rik |
| MMRRC Submission |
038769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0579 (G1)
|
| Quality Score |
184 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41393706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1056
(P1056S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000072866]
[ENSMUST00000108055]
[ENSMUST00000108060]
|
| AlphaFold |
Q6NWW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030148
AA Change: P1056S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: P1056S
| 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: P1190S
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: P1190S
| 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 |
noncoding transcript
Transcript: ENSMUST00000141951
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Abcf3 |
G |
A |
16: 20,369,398 (GRCm39) |
R260Q |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,121,969 (GRCm39) |
V136A |
probably damaging |
Het |
| Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,654,810 (GRCm39) |
N783S |
possibly damaging |
Het |
| Cd300ld2 |
A |
G |
11: 114,903,125 (GRCm39) |
F240S |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,584,915 (GRCm39) |
D340G |
possibly damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,049 (GRCm39) |
I403N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,312 (GRCm39) |
M2881K |
possibly damaging |
Het |
| Erbb4 |
T |
C |
1: 68,081,621 (GRCm39) |
M1138V |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,969,575 (GRCm39) |
V112A |
probably benign |
Het |
| F2r |
A |
G |
13: 95,754,857 (GRCm39) |
V9A |
probably benign |
Het |
| Flot1 |
C |
A |
17: 36,141,900 (GRCm39) |
S337R |
probably benign |
Het |
| Glt28d2 |
G |
A |
3: 85,779,440 (GRCm39) |
T11I |
probably damaging |
Het |
| Gm19345 |
A |
G |
7: 19,588,901 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Hmgcs2 |
A |
T |
3: 98,198,264 (GRCm39) |
I56F |
probably damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
| Il21 |
T |
G |
3: 37,281,923 (GRCm39) |
K74Q |
possibly damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,983,011 (GRCm39) |
Y370* |
probably null |
Het |
| L2hgdh |
A |
T |
12: 69,748,046 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,724,298 (GRCm39) |
L156Q |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,063,844 (GRCm39) |
M84K |
probably benign |
Het |
| Npy4r |
G |
A |
14: 33,868,640 (GRCm39) |
T216I |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,238 (GRCm39) |
V47A |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or6c1 |
A |
T |
10: 129,518,106 (GRCm39) |
C167* |
probably null |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,011 (GRCm39) |
E222G |
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,510,115 (GRCm39) |
D406E |
possibly damaging |
Het |
| Proser1 |
A |
G |
3: 53,374,572 (GRCm39) |
Y32C |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,266,913 (GRCm39) |
|
probably null |
Het |
| Slc1a3 |
T |
A |
15: 8,717,793 (GRCm39) |
I100F |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,011,272 (GRCm39) |
D176G |
probably damaging |
Het |
| Stard7 |
T |
C |
2: 127,126,473 (GRCm39) |
V99A |
probably damaging |
Het |
| Stk33 |
C |
T |
7: 108,924,904 (GRCm39) |
V184I |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,342,745 (GRCm39) |
L51P |
probably benign |
Het |
| Tppp |
T |
C |
13: 74,169,352 (GRCm39) |
S31P |
probably benign |
Het |
| Upf2 |
A |
T |
2: 5,993,240 (GRCm39) |
R599W |
unknown |
Het |
| Vav1 |
G |
T |
17: 57,586,271 (GRCm39) |
W25L |
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 |
|
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'- AAGTCCAACTTACTGTGCCTGCTC -3'
(R):5'- GCATTCACCTGACAAATTGCCCG -3'
Sequencing Primer
(F):5'- AAGCACCTTGAGATTGGCCTG -3'
(R):5'- CTGACAAATTGCCCGGTAGAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation