Incidental Mutation 'R0682:Kif24'
| ID |
60999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif24
|
| Ensembl Gene |
ENSMUSG00000028438 |
| Gene Name |
kinesin family member 24 |
| Synonyms |
4933425J19Rik |
| MMRRC Submission |
038867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0682 (G1)
|
| Quality Score |
131 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41428620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 113
(N113K)
|
| 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: N113K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: N113K
| 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: N113K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: N113K
| 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
AA Change: N113K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119009
Gene: ENSMUSG00000028438
AA Change: N113K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
2 |
62 |
6.3e-7 |
PFAM |
|
Blast:KISc
|
82 |
142 |
2e-20 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
| Abcd3 |
A |
C |
3: 121,563,216 (GRCm39) |
I471S |
possibly damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
| Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
| Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,222 (GRCm39) |
Y418C |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
| Ifit2 |
G |
A |
19: 34,551,012 (GRCm39) |
R184H |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
| Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
| Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
| Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
| Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
| Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,131,915 (GRCm39) |
M148T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,645,665 (GRCm39) |
S470P |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
| Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
| Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
| Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,710,930 (GRCm39) |
Y60C |
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 |
|
|
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 |
|
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'- ACTACAGTAGACCTGGTAAGTAGCAGC -3'
(R):5'- GAACGACCGCAAACGTCTCTTTC -3'
Sequencing Primer
(F):5'- CCTGACACATGAGAGACTCTTTG -3'
(R):5'- ACGTCTCTTTCAGCTTATCAAAATC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation