Incidental Mutation 'R8916:Kif24'
| ID |
678925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif24
|
| Ensembl Gene |
ENSMUSG00000028438 |
| Gene Name |
kinesin family member 24 |
| Synonyms |
4933425J19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41394963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 771
(K771E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000072866]
[ENSMUST00000108055]
|
| AlphaFold |
Q6NWW5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030148
AA Change: K637E
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: K637E
| 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: K771E
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: K771E
| 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: 99.9%
- 20x: 99.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
G |
13: 70,941,307 (GRCm39) |
L360S |
probably damaging |
Het |
| AW554918 |
T |
C |
18: 25,423,049 (GRCm39) |
Y167H |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,410,813 (GRCm39) |
I433F |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,790,352 (GRCm39) |
F566I |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,652,915 (GRCm39) |
Y795N |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,501,667 (GRCm39) |
G362E |
unknown |
Het |
| Crebrf |
A |
G |
17: 26,958,583 (GRCm39) |
T18A |
probably damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,056,254 (GRCm39) |
V529I |
probably benign |
Het |
| Dars2 |
T |
C |
1: 160,881,552 (GRCm39) |
T326A |
probably benign |
Het |
| Eif4e |
T |
C |
3: 138,256,043 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,733,722 (GRCm39) |
M413V |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,245,149 (GRCm39) |
D246G |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,837,514 (GRCm39) |
S241P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,900,774 (GRCm39) |
F2998L |
probably damaging |
Het |
| Garin4 |
A |
G |
1: 190,895,857 (GRCm39) |
I262T |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,901,599 (GRCm39) |
T192A |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
T |
9: 44,209,673 (GRCm39) |
F234I |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,649,530 (GRCm39) |
I652N |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,061,170 (GRCm39) |
|
probably null |
Het |
| Lnpk |
A |
T |
2: 74,358,486 (GRCm39) |
S358T |
probably benign |
Het |
| Lpcat2 |
A |
T |
8: 93,596,316 (GRCm39) |
M118L |
probably benign |
Het |
| Lypd1 |
T |
A |
1: 125,801,120 (GRCm39) |
T127S |
unknown |
Het |
| Mettl23 |
C |
T |
11: 116,740,111 (GRCm39) |
T194I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,788,819 (GRCm39) |
V2227A |
possibly damaging |
Het |
| Mus81 |
A |
T |
19: 5,534,214 (GRCm39) |
V368E |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,457,704 (GRCm39) |
F1046I |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,888,667 (GRCm39) |
V222I |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,811,106 (GRCm39) |
M372K |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,991,101 (GRCm39) |
E586G |
probably benign |
Het |
| Nr2e1 |
G |
A |
10: 42,443,864 (GRCm39) |
A286V |
possibly damaging |
Het |
| Nup153 |
G |
A |
13: 46,863,462 (GRCm39) |
Q300* |
probably null |
Het |
| Plaat1 |
A |
G |
16: 29,039,259 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pnp2 |
T |
C |
14: 51,201,234 (GRCm39) |
L202P |
probably damaging |
Het |
| Prss3b |
T |
A |
6: 41,010,103 (GRCm39) |
H77L |
probably damaging |
Het |
| Psen2 |
A |
G |
1: 180,063,495 (GRCm39) |
F183L |
probably benign |
Het |
| Rint1 |
G |
T |
5: 23,992,826 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCGGCGGCCGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,608,635 (GRCm39) |
R2335L |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,108,127 (GRCm39) |
D1544G |
probably damaging |
Het |
| Sec31b |
A |
C |
19: 44,520,783 (GRCm39) |
S175A |
|
Het |
| Sgcg |
A |
G |
14: 61,474,341 (GRCm39) |
S101P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,489,154 (GRCm39) |
S241T |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,193,118 (GRCm39) |
L545Q |
probably damaging |
Het |
| Spata31g1 |
C |
A |
4: 42,973,034 (GRCm39) |
P789H |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,725,266 (GRCm39) |
E164* |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,255,108 (GRCm39) |
N880K |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,899,931 (GRCm39) |
V894A |
probably benign |
Het |
| Tgfa |
T |
G |
6: 86,248,436 (GRCm39) |
L146R |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
| Tlr4 |
G |
A |
4: 66,847,268 (GRCm39) |
V132I |
probably benign |
Het |
| Tsen34 |
C |
T |
7: 3,697,340 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
T |
G |
8: 125,409,976 (GRCm39) |
K412T |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,139 (GRCm39) |
Y203C |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,665 (GRCm39) |
T340S |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,648,593 (GRCm39) |
C46S |
|
Het |
| Ythdf2 |
A |
T |
4: 131,931,830 (GRCm39) |
D443E |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,796 (GRCm39) |
R754G |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,664,351 (GRCm39) |
E478V |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,136 (GRCm39) |
Y590* |
probably null |
Het |
| Zfp9 |
A |
T |
6: 118,442,223 (GRCm39) |
C146* |
probably null |
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 |
|
|
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'- CGTGCGAGAAAGAATCCTCAC -3'
(R):5'- TGCTCTGAGAAAAGTCAAATTGGC -3'
Sequencing Primer
(F):5'- CTGAAGTCACTGTCATCAAGGTC -3'
(R):5'- CTCAGACCCAGGAGAAGGTCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation