Incidental Mutation 'R8305:Kif24'
| ID |
640984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif24
|
| Ensembl Gene |
ENSMUSG00000028438 |
| Gene Name |
kinesin family member 24 |
| Synonyms |
4933425J19Rik |
| MMRRC Submission |
067716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41390745-41464887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41428825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 45
(V45A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030148]
[ENSMUST00000108055]
[ENSMUST00000154535]
|
| AlphaFold |
Q6NWW5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030148
AA Change: V45A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: V45A
| 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 damaging
Transcript: ENSMUST00000108055
AA Change: V45A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: V45A
| 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 damaging
Transcript: ENSMUST00000154535
AA Change: V45A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119009
Gene: ENSMUSG00000028438
AA Change: V45A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (65/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,208,844 (GRCm39) |
E243K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,696,423 (GRCm39) |
H58Q |
probably benign |
Het |
| Actl7a |
T |
A |
4: 56,743,744 (GRCm39) |
F90L |
probably benign |
Het |
| Adam5 |
G |
A |
8: 25,300,719 (GRCm39) |
A270V |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 98,919,548 (GRCm39) |
T103A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,780,219 (GRCm39) |
L1757P |
possibly damaging |
Het |
| Apoa4 |
T |
A |
9: 46,152,453 (GRCm39) |
M1K |
probably null |
Het |
| Arih1 |
T |
A |
9: 59,303,770 (GRCm39) |
Q445L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,634,054 (GRCm39) |
I420L |
probably benign |
Het |
| Bbs2 |
A |
C |
8: 94,800,953 (GRCm39) |
V626G |
probably damaging |
Het |
| Cep290 |
C |
A |
10: 100,380,796 (GRCm39) |
A1678D |
probably benign |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,464,927 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
T |
A |
3: 144,531,698 (GRCm39) |
N702I |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,179,937 (GRCm39) |
V1143A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,388,863 (GRCm39) |
T223A |
probably benign |
Het |
| Defa30 |
A |
T |
8: 21,625,475 (GRCm39) |
T80S |
probably benign |
Het |
| Dennd1a |
G |
A |
2: 37,748,093 (GRCm39) |
L375F |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,480,984 (GRCm39) |
T675I |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,822,556 (GRCm39) |
V4A |
probably damaging |
Het |
| Enpp3 |
C |
G |
10: 24,700,827 (GRCm39) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 59,952,782 (GRCm39) |
T154A |
probably benign |
Het |
| Filip1 |
G |
T |
9: 79,727,757 (GRCm39) |
Y287* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,284,864 (GRCm39) |
D751G |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,918,226 (GRCm39) |
Q572L |
probably benign |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
| Gm39115 |
A |
G |
7: 141,689,360 (GRCm39) |
C138R |
unknown |
Het |
| Gm7356 |
T |
A |
17: 14,221,699 (GRCm39) |
Y110F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,952,747 (GRCm39) |
K233R |
probably benign |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,206 (GRCm39) |
E103D |
probably benign |
Het |
| Igsf11 |
C |
A |
16: 38,827,586 (GRCm39) |
T48N |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,913,944 (GRCm39) |
Y506N |
probably damaging |
Het |
| Kat2a |
A |
C |
11: 100,600,304 (GRCm39) |
M357R |
possibly damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,132 (GRCm39) |
R233G |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,726,197 (GRCm39) |
C563* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,018 (GRCm39) |
V456A |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,289,414 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
T |
A |
1: 127,745,007 (GRCm39) |
E1177D |
|
Het |
| Mdn1 |
G |
T |
4: 32,725,107 (GRCm39) |
L2575F |
probably benign |
Het |
| Mga |
T |
A |
2: 119,776,800 (GRCm39) |
M1569K |
possibly damaging |
Het |
| Mvk |
T |
C |
5: 114,588,840 (GRCm39) |
Y161H |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,389 (GRCm39) |
M276K |
probably benign |
Het |
| Or14c44 |
G |
T |
7: 86,061,987 (GRCm39) |
C139F |
probably damaging |
Het |
| Or2n1 |
C |
A |
17: 38,486,464 (GRCm39) |
T163K |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,583,075 (GRCm39) |
V727E |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,821,707 (GRCm39) |
V167G |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,221 (GRCm39) |
D146G |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,188,000 (GRCm39) |
G879R |
possibly damaging |
Het |
| Prss58 |
C |
T |
6: 40,872,594 (GRCm39) |
A171T |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,499,231 (GRCm39) |
I1016V |
probably benign |
Het |
| Rbm43 |
A |
G |
2: 51,816,712 (GRCm39) |
V85A |
probably damaging |
Het |
| Rdh16f2 |
T |
A |
10: 127,712,864 (GRCm39) |
D287E |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,702,812 (GRCm39) |
L393Q |
probably damaging |
Het |
| Sbf2 |
T |
G |
7: 109,970,825 (GRCm39) |
H857P |
possibly damaging |
Het |
| Scn8a |
A |
C |
15: 100,938,387 (GRCm39) |
T1919P |
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,434,084 (GRCm39) |
G377E |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,975,603 (GRCm39) |
D436E |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,380,901 (GRCm39) |
I535F |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,779,158 (GRCm39) |
S281T |
possibly damaging |
Het |
| Stt3b |
T |
C |
9: 115,083,999 (GRCm39) |
I392M |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,296,660 (GRCm39) |
V201A |
possibly damaging |
Het |
| Timm10b |
T |
C |
7: 105,289,876 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
A |
C |
7: 67,312,135 (GRCm39) |
D14A |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,923,011 (GRCm39) |
L636I |
possibly damaging |
Het |
| Vgll4 |
G |
T |
6: 114,867,613 (GRCm39) |
H79Q |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,858 (GRCm39) |
I3047T |
|
Het |
| Zan |
T |
C |
5: 137,448,813 (GRCm39) |
E1680G |
unknown |
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 |
|
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'- TCAAAATGCAGTTGTCTTCGGG -3'
(R):5'- CAGCTTTGCTTATAAACTGTGCTG -3'
Sequencing Primer
(F):5'- TTCGGGGCCCAGATCTGAATTC -3'
(R):5'- CTGTGCTGTTTATCCATTTCAGAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation