Mutagenetix > Incidental Mutation

Incidental Mutation 'R8167:Kif24'

633822

Institutional Source

Beutler Lab

Gene Symbol

Kif24

Ensembl Gene

ENSMUSG00000028438

Gene Name

kinesin family member 24

Synonyms

4933425J19Rik

MMRRC Submission

067593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8167 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41390745-41464887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41392957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1284 (R1284L)

Ref Sequence

ENSEMBL: ENSMUSP00000103690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030148] [ENSMUST00000072866] [ENSMUST00000108055] [ENSMUST00000108060]

AlphaFold

Q6NWW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030148
AA Change: R1150L

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: R1150L

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

possibly damaging
Transcript: ENSMUST00000108055
AA Change: R1284L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: R1284L

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

probably benign
Transcript: ENSMUST00000132235

SMART Domains

Protein: ENSMUSP00000123491
Gene: ENSMUSG00000028437

Domain	Start	End	E-Value	Type
SCOP:d1ifya_	68	111	2e-11	SMART
PDB:4AE4\|B	69	140	2e-44	PDB
Blast:UBA	73	109	7e-15	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	A	7: 43,147,288 (GRCm39)	I315F	possibly damaging	Het
Aadacl2fm3	T	A	3: 59,784,632 (GRCm39)	D368E	probably benign	Het
Acin1	G	A	14: 54,902,337 (GRCm39)	T485I	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Anapc11	T	A	11: 120,490,112 (GRCm39)	N9K	probably benign	Het
Arhgef18	A	T	8: 3,403,636 (GRCm39)		probably benign	Het
Atp9b	T	C	18: 80,890,398 (GRCm39)	T314A		Het
Birc6	T	A	17: 74,950,389 (GRCm39)	I3214N	probably damaging	Het
Catsperb	A	G	12: 101,557,714 (GRCm39)	I762V	probably benign	Het
Cblb	T	A	16: 51,986,365 (GRCm39)	M536K	probably benign	Het
Ccdc85c	C	A	12: 108,240,759 (GRCm39)	A212S	unknown	Het
Cdh23	T	A	10: 60,150,162 (GRCm39)	D2561V	probably benign	Het
Cdh23	T	A	10: 60,173,472 (GRCm39)	Y1672F	probably damaging	Het
Cep83	T	C	10: 94,564,579 (GRCm39)	S173P	possibly damaging	Het
Ctc1	C	T	11: 68,918,584 (GRCm39)	P530S	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,484 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,292,671 (GRCm39)	I3019F	possibly damaging	Het
Dsc1	T	C	18: 20,230,258 (GRCm39)	D349G	probably damaging	Het
Ehd2	C	G	7: 15,697,917 (GRCm39)	G107R	probably damaging	Het
Epha3	A	T	16: 63,388,804 (GRCm39)	W816R	probably damaging	Het
Fam135b	T	A	15: 71,404,840 (GRCm39)	S69C	probably null	Het
Fbxo43	A	G	15: 36,151,917 (GRCm39)	F600S	probably damaging	Het
Flnc	A	T	6: 29,455,921 (GRCm39)	D2117V	probably damaging	Het
Gas2l3	T	A	10: 89,262,342 (GRCm39)	T127S	probably damaging	Het
Gli3	T	G	13: 15,900,228 (GRCm39)	L1205R	probably benign	Het
Gm17093	A	T	14: 44,758,139 (GRCm39)	I107F		Het
Gm7298	T	A	6: 121,761,414 (GRCm39)	C1323*	probably null	Het
H2-D1	A	G	17: 35,485,741 (GRCm39)	T89A		Het
Hira	T	G	16: 18,715,259 (GRCm39)	D52E	probably benign	Het
Ighv6-6	G	C	12: 114,398,525 (GRCm39)	Y80*	probably null	Het
Kat6b	C	T	14: 21,719,953 (GRCm39)	T1435I	probably damaging	Het
Kcna1	C	A	6: 126,620,443 (GRCm39)		probably benign	Het
Kremen2	A	C	17: 23,962,314 (GRCm39)	C173G	probably damaging	Het
Krtap24-1	G	C	16: 88,408,707 (GRCm39)	Q140E	probably benign	Het
Lrrc66	C	A	5: 73,786,952 (GRCm39)	G133*	probably null	Het
Mast1	C	A	8: 85,647,987 (GRCm39)	R498L	probably damaging	Het
Myom3	T	C	4: 135,534,504 (GRCm39)	I1231T	possibly damaging	Het
Nid2	G	A	14: 19,860,131 (GRCm39)	V1350I	possibly damaging	Het
Or4f59	A	T	2: 111,872,789 (GRCm39)	V196D	possibly damaging	Het
Or8j3c	A	G	2: 86,253,484 (GRCm39)	C179R	probably damaging	Het
Or9r3	T	C	10: 129,948,350 (GRCm39)	Q103R	probably damaging	Het
Pde4a	A	G	9: 21,117,469 (GRCm39)	D577G	possibly damaging	Het
Pde4d	T	A	13: 109,578,855 (GRCm39)	N36K	probably benign	Het
Plekhg1	A	T	10: 3,907,452 (GRCm39)	S845C		Het
Plekhg1	G	A	10: 3,907,453 (GRCm39)	S845N		Het
Plod1	C	T	4: 148,004,658 (GRCm39)	D481N	probably damaging	Het
Plxna4	T	A	6: 32,493,981 (GRCm39)	M212L	probably damaging	Het
Ppip5k1	C	A	2: 121,173,282 (GRCm39)	E464*	probably null	Het
Raph1	T	A	1: 60,529,270 (GRCm39)	M664L	unknown	Het
Rbm11	A	C	16: 75,395,673 (GRCm39)	M115L	probably benign	Het
Rerg	T	C	6: 137,034,869 (GRCm39)	H45R	possibly damaging	Het
Rnf43	A	G	11: 87,618,232 (GRCm39)	E47G	probably benign	Het
Rsph1	A	G	17: 31,496,260 (GRCm39)		probably benign	Het
Safb	A	G	17: 56,892,286 (GRCm39)	E42G	unknown	Het
Scn1a	A	T	2: 66,155,182 (GRCm39)	D592E	probably damaging	Het
Sdf4	T	G	4: 156,093,379 (GRCm39)	V237G	possibly damaging	Het
Slc44a2	C	A	9: 21,258,068 (GRCm39)	H439Q	possibly damaging	Het
Smg7	A	T	1: 152,720,123 (GRCm39)	N761K	possibly damaging	Het
Snrpb2	A	G	2: 142,910,284 (GRCm39)	E114G	probably benign	Het
Spmip11	A	G	15: 98,486,548 (GRCm39)	H106R	probably benign	Het
Ssh1	T	C	5: 114,090,051 (GRCm39)	D346G	possibly damaging	Het
Svopl	T	A	6: 37,993,979 (GRCm39)	I351F	probably damaging	Het
Tgfb2	A	G	1: 186,422,942 (GRCm39)	S136P	possibly damaging	Het
Thsd7a	A	T	6: 12,317,400 (GRCm39)	L1636*	probably null	Het
Tmc2	A	G	2: 130,083,488 (GRCm39)	T482A	probably benign	Het
Tnk2	C	A	16: 32,499,080 (GRCm39)	P798T	probably damaging	Het
Trim5	T	C	7: 103,927,630 (GRCm39)	Y170C	probably damaging	Het
Ttll10	T	C	4: 156,129,213 (GRCm39)	M310V	probably null	Het
Unc13c	T	A	9: 73,643,985 (GRCm39)	T1160S	probably damaging	Het
Usp25	A	T	16: 76,904,819 (GRCm39)	D795V	probably damaging	Het
Usp28	T	A	9: 48,949,148 (GRCm39)	V914E	probably damaging	Het
Utrn	A	T	10: 12,547,558 (GRCm39)	C1627*	probably null	Het
Vmn1r28	C	A	6: 58,243,052 (GRCm39)	F298L	noncoding transcript	Het
Vps29	T	C	5: 122,500,877 (GRCm39)	S69P	possibly damaging	Het
Zfp703	T	A	8: 27,469,782 (GRCm39)	L482H	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
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
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'- TGTTGTTGTATCTACACCATGGC -3'
(R):5'- AACCCTTGTGAAGCAGCAG -3'

Sequencing Primer
(F):5'- GTTGTATCTACACCATGGCAAACAG -3'
(R):5'- GAGCTTGAAAAATCTGTCTGTCTGTC -3'

Posted On

2020-07-13