Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Kif24'

224300

Institutional Source

Beutler Lab

Gene Symbol

Kif24

Ensembl Gene

ENSMUSG00000028438

Gene Name

kinesin family member 24

Synonyms

4933425J19Rik

MMRRC Submission

040007-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41390745-41464887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41392904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1168 (T1168A)

Ref Sequence

ENSEMBL: ENSMUSP00000030148 (fasta)

Gene Model

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

AlphaFold

Q6NWW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030148
AA Change: T1168A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: T1168A

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: T1302A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: T1302A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141951

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acin1	T	C	14: 54,646,699		probably null	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cdh7	A	T	1: 110,048,938	D111V	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dbn1	T	C	13: 55,482,441	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Dennd4c	A	G	4: 86,837,397	T1609A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kcnh1	G	A	1: 192,276,935	V266I	probably damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Myocd	G	A	11: 65,204,321	Q47*	probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Polg	A	G	7: 79,459,231	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Sec23a	T	A	12: 59,002,007	I110L	probably benign	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	Het

Other mutations in Kif24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Kif24	APN	4	41413826	splice site	probably null
IGL00787:Kif24	APN	4	41397583	missense	probably damaging	1.00
IGL01065:Kif24	APN	4	41423639	unclassified	probably benign
IGL01716:Kif24	APN	4	41393454	missense	probably benign	0.40
IGL01796:Kif24	APN	4	41392978	unclassified	probably benign
IGL02307:Kif24	APN	4	41395274	missense	probably benign	0.02
IGL03061:Kif24	APN	4	41394323	missense	possibly damaging	0.86
IGL03080:Kif24	APN	4	41394417	missense	probably benign	0.12
IGL03100:Kif24	APN	4	41394446	missense	possibly damaging	0.59
R0226:Kif24	UTSW	4	41414939	nonsense	probably null
R0345:Kif24	UTSW	4	41428413	missense	probably benign	0.01
R0365:Kif24	UTSW	4	41428731	missense	probably benign	0.06
R0366:Kif24	UTSW	4	41428717	missense	possibly damaging	0.77
R0579:Kif24	UTSW	4	41393706	missense	probably damaging	0.97
R0682:Kif24	UTSW	4	41428620	missense	probably benign	0.01
R1611:Kif24	UTSW	4	41423552	missense	probably benign	0.02
R1634:Kif24	UTSW	4	41393529	missense	probably benign	0.02
R1772:Kif24	UTSW	4	41409787	missense	probably damaging	1.00
R3833:Kif24	UTSW	4	41395064	missense	probably damaging	1.00
R3849:Kif24	UTSW	4	41404734	missense	probably damaging	1.00
R4356:Kif24	UTSW	4	41413827	critical splice donor site	probably null
R4357:Kif24	UTSW	4	41413827	critical splice donor site	probably null
R4358:Kif24	UTSW	4	41413827	critical splice donor site	probably null
R4359:Kif24	UTSW	4	41413827	critical splice donor site	probably null
R4406:Kif24	UTSW	4	41393954	missense	probably damaging	1.00
R4580:Kif24	UTSW	4	41395287	missense	probably damaging	1.00
R4756:Kif24	UTSW	4	41397545	critical splice donor site	probably null
R4921:Kif24	UTSW	4	41394329	missense	probably damaging	0.99
R4935:Kif24	UTSW	4	41394939	missense	probably damaging	0.99
R5288:Kif24	UTSW	4	41395373	missense	probably benign	0.09
R5398:Kif24	UTSW	4	41394401	missense	possibly damaging	0.50
R5885:Kif24	UTSW	4	41423463	missense	probably damaging	1.00
R5901:Kif24	UTSW	4	41428604	missense	probably damaging	1.00
R5919:Kif24	UTSW	4	41394477	missense	possibly damaging	0.62
R5945:Kif24	UTSW	4	41428670	nonsense	probably null
R6278:Kif24	UTSW	4	41423498	missense	probably damaging	1.00
R6291:Kif24	UTSW	4	41413959	missense	probably damaging	1.00
R6891:Kif24	UTSW	4	41394168	missense	probably benign	0.33
R7178:Kif24	UTSW	4	41395085	missense	probably benign	0.00
R7437:Kif24	UTSW	4	41404687	missense	possibly damaging	0.70
R7453:Kif24	UTSW	4	41394673	missense	possibly damaging	0.91
R7543:Kif24	UTSW	4	41413993	nonsense	probably null
R7548:Kif24	UTSW	4	41423601	missense	possibly damaging	0.57
R8167:Kif24	UTSW	4	41392957	missense	possibly damaging	0.87
R8305:Kif24	UTSW	4	41428825	missense	probably damaging	1.00
R8407:Kif24	UTSW	4	41394488	missense	probably benign	0.05
R8722:Kif24	UTSW	4	41394233	missense	probably benign
R8916:Kif24	UTSW	4	41394963	missense	probably benign	0.23
R9093:Kif24	UTSW	4	41428691	missense	probably benign
R9172:Kif24	UTSW	4	41400442	missense	probably benign	0.44
R9468:Kif24	UTSW	4	41404794	missense	probably damaging	1.00
R9687:Kif24	UTSW	4	41428546	missense	probably damaging	0.99
Z1088:Kif24	UTSW	4	41395091	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGTGGTTCACTGCTACAGTAG -3'
(R):5'- TGGCCCCTTGACTAGTTCTAAG -3'

Sequencing Primer
(F):5'- TCACTGCTACAGTAGTCATAGGG -3'
(R):5'- GGCCCCTTGACTAGTTCTAAGAACAG -3'

Posted On

2014-08-25