Mutagenetix > Incidental Mutation

Incidental Mutation 'R7178:Kif24'

558751

Institutional Source

Beutler Lab

Gene Symbol

Kif24

Ensembl Gene

ENSMUSG00000028438

Gene Name

kinesin family member 24

Synonyms

4933425J19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41390745-41464887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41395085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 730 (V730A)

Ref Sequence

ENSEMBL: ENSMUSP00000103690 (fasta)

Gene Model

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

AlphaFold

Q6NWW5

Predicted Effect

probably benign
Transcript: ENSMUST00000030148
AA Change: V596A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: V596A

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: V730A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: V730A

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (75/75)

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
Acsbg1	A	G	9: 54,628,461	I130T	possibly damaging	Het
Adam24	T	A	8: 40,680,000	L169*	probably null	Het
Als2	A	T	1: 59,207,812	I556N	probably damaging	Het
Ankrd44	A	T	1: 54,649,440	N212K		Het
Anpep	T	C	7: 79,840,988	D260G	probably benign	Het
Arhgap17	A	T	7: 123,285,358		probably null	Het
Atad2	C	T	15: 58,117,293	R383Q	probably damaging	Het
Atp11b	T	A	3: 35,819,950	M696K	probably benign	Het
Atp13a2	A	G	4: 140,999,151	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,943,672	D29G	possibly damaging	Het
Baz2a	C	T	10: 128,124,457	R1514W	probably damaging	Het
Cep250	T	A	2: 155,973,455	L631*	probably null	Het
Clec4a3	T	C	6: 122,964,292	I82T	probably benign	Het
Csmd3	T	A	15: 47,590,774	I2648F		Het
Cul5	A	G	9: 53,644,526	F247L	probably benign	Het
D430042O09Rik	T	C	7: 125,866,327	V1317A	probably benign	Het
Dnajc24	A	T	2: 105,970,462	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,694,993	V1848E	probably damaging	Het
Dspp	A	G	5: 104,174,066	T14A	probably benign	Het
Fam166a	G	A	2: 25,220,240	V55I	probably damaging	Het
Fam196b	G	T	11: 34,402,359	V134F	probably damaging	Het
Gm7298	T	G	6: 121,785,896	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,709,163	S62R	unknown	Het
Gtsf1	T	G	15: 103,419,961	N130T	probably benign	Het
Heatr5a	C	A	12: 51,925,142	S755I	probably damaging	Het
Hrc	A	G	7: 45,336,261	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,233,510	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,835	S256G	probably benign	Het
Ipo13	A	G	4: 117,903,884	S546P	possibly damaging	Het
L3mbtl2	T	C	15: 81,671,074	V176A	probably benign	Het
Lgi1	T	C	19: 38,306,285	Y502H	probably damaging	Het
Liph	T	A	16: 21,976,328	D178V	probably damaging	Het
Maea	T	C	5: 33,358,510	V47A	probably damaging	Het
Mak16	A	C	8: 31,166,574	S42A	probably benign	Het
Mamdc4	T	C	2: 25,568,965	I269V	probably benign	Het
Mapk8ip3	A	T	17: 24,901,754	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788	S889T	unknown	Het
Npy6r	A	G	18: 44,276,484	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,356,147	T489P	possibly damaging	Het
Olfr1102	G	A	2: 87,002,535	V189I	probably benign	Het
Olfr187	T	A	16: 59,035,933	D268V	probably benign	Het
Olfr69	G	A	7: 103,767,975	Q141*	probably null	Het
Otof	G	C	5: 30,383,534	T887S	possibly damaging	Het
Papola	T	C	12: 105,807,184	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,715,630	H1421R	probably benign	Het
Plpp5	T	C	8: 25,720,579	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,518,337	I154L	probably benign	Het
Prr18	A	C	17: 8,341,909	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,477,259	S198F	possibly damaging	Het
Qars	T	C	9: 108,515,123	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,636,752	R185*	probably null	Het
Scn2a	C	T	2: 65,748,853	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,080,776	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,258,148	T175A	probably damaging	Het
Skiv2l	T	C	17: 34,839,464	T1226A	probably benign	Het
Slc17a6	A	G	7: 51,667,511	I427V	possibly damaging	Het
Slc2a2	C	T	3: 28,719,482	A312V	possibly damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Spcs1	G	A	14: 31,000,481	S127F	possibly damaging	Het
Speg	T	C	1: 75,422,383	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,418,056	I423F	probably damaging	Het
Synj2	T	A	17: 6,026,479	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,055,660	D45V	probably damaging	Het
Tcf3	C	A	10: 80,421,599	V11F	unknown	Het
Tead1	A	T	7: 112,841,937	Q91L	probably benign	Het
Tgm5	T	A	2: 121,085,768		probably benign	Het
Tgoln1	C	T	6: 72,616,045	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,827,539	N445K	probably benign	Het
Ttn	G	C	2: 76,710,170	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,136,162	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,996,994	L684F	probably damaging	Het
Zfp661	T	C	2: 127,577,536	D228G	probably benign	Het
Zfp738	T	C	13: 67,673,028	K77E	probably damaging	Het
Zkscan1	T	A	5: 138,100,930	D378E	probably damaging	Het
Zswim9	T	A	7: 13,259,997	D744V	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
R1997:Kif24	UTSW	4	41392904	missense	possibly damaging	0.92
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
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'- GGAAAGCCAGTCTCACTCTG -3'
(R):5'- TGCTCTGAGAAAAGTCAAATTGGC -3'

Sequencing Primer
(F):5'- TCTGGAGCCGACCTTCTGAAG -3'
(R):5'- AGTCAAATTGGCAGCAAGATTG -3'

Posted On

2019-06-26