Mutagenetix > Incidental Mutation

Incidental Mutation 'R7437:Kif24'

576662

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 #

R7437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41390745-41464887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41404687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 438 (T438A)

Ref Sequence

ENSEMBL: ENSMUSP00000103690 (fasta)

Gene Model

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

AlphaFold

Q6NWW5

Predicted Effect

probably benign
Transcript: ENSMUST00000030148
AA Change: T304A

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: T304A

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

possibly damaging
Transcript: ENSMUST00000108055
AA Change: T438A

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: T438A

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

Meta Mutation Damage Score

0.0872

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,400,498	I1192F	probably damaging	Het
Abca8a	A	G	11: 110,050,964	S1160P	probably benign	Het
Adamtsl2	A	G	2: 27,089,709	I297V	probably damaging	Het
Aebp1	T	A	11: 5,869,757	F687L	possibly damaging	Het
Ahsa1	A	G	12: 87,268,156	T28A	probably damaging	Het
Akap3	A	T	6: 126,865,655	K412N	probably damaging	Het
Atl1	A	G	12: 69,931,622	I123V	probably benign	Het
Atp10a	G	A	7: 58,658,540	R29H	unknown	Het
C4b	T	C	17: 34,734,733	D967G	probably benign	Het
Ccdc186	T	C	19: 56,806,997	N416S	probably damaging	Het
Ccna2	T	C	3: 36,571,090		probably benign	Het
Cep70	T	C	9: 99,291,529	L371P	probably damaging	Het
Cfap46	A	T	7: 139,650,837	C958*	probably null	Het
Crlf2	T	C	5: 109,554,973	D318G	probably benign	Het
Csf1	T	C	3: 107,750,756	N14D	probably benign	Het
Dars	A	G	1: 128,372,204	Y348H	possibly damaging	Het
Dnah2	T	C	11: 69,498,627	E813G	probably damaging	Het
Ebi3	T	A	17: 55,954,410	M102K	probably benign	Het
Epg5	A	G	18: 78,023,278	D2131G	probably benign	Het
Fam186a	A	T	15: 99,942,894	L1823H	probably damaging	Het
Fam213b	C	A	4: 154,896,596	C194F	possibly damaging	Het
H2-M3	T	C	17: 37,272,678	M309T	probably benign	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ino80	A	G	2: 119,442,586	S470P	possibly damaging	Het
Kcnh5	C	T	12: 75,137,643		probably null	Het
Kndc1	G	A	7: 139,909,043	G205R	probably damaging	Het
Lrp1b	A	T	2: 40,822,645	Y3226N		Het
Lrp1b	G	T	2: 40,822,646	D3225E		Het
Megf10	G	C	18: 57,262,131	G522R	probably damaging	Het
Mgea5	A	T	19: 45,778,607	M110K	possibly damaging	Het
Nectin2	A	T	7: 19,749,268	L12*	probably null	Het
Ngef	A	T	1: 87,480,605	M580K	probably damaging	Het
Olfr1118	A	G	2: 87,309,343	M205V	probably benign	Het
Olfr1437	T	C	19: 12,322,108	N240D	probably damaging	Het
Olfr376	A	G	11: 73,375,018	S93G	probably benign	Het
Pcdhb13	T	C	18: 37,444,675	L702P	probably damaging	Het
Pcdhb17	A	G	18: 37,486,092	I312V	probably benign	Het
Pglyrp3	A	G	3: 92,030,678	N265D	probably benign	Het
Pkd1l2	A	G	8: 117,030,682	V1539A	probably damaging	Het
Rcn2	T	C	9: 56,058,069	L274P	probably damaging	Het
Rpp30	A	G	19: 36,104,438	E267G	possibly damaging	Het
Rundc3a	A	G	11: 102,398,404	M134V	probably damaging	Het
Samd3	A	T	10: 26,270,106	Q343L	possibly damaging	Het
Serpinb3c	A	T	1: 107,271,714	F359Y	probably damaging	Het
Slc9a9	T	C	9: 95,228,941	L604P	probably benign	Het
Strn3	A	T	12: 51,610,163	H777Q	probably damaging	Het
Tap1	G	A	17: 34,190,642	W284*	probably null	Het
Tmem136	C	T	9: 43,111,785	W91*	probably null	Het
Tmem181a	A	G	17: 6,303,265	D384G	possibly damaging	Het
Txndc12	T	C	4: 108,856,171	S77P	probably damaging	Het
Wnt16	G	A	6: 22,288,561	V19M	probably benign	Het
Zfp932	T	A	5: 110,010,014	M526K	probably benign	Het
Zfp959	G	T	17: 55,898,334	C457F	probably damaging	Het
Zscan4-ps3	T	C	7: 11,612,936	S300P	probably benign	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
R7178:Kif24	UTSW	4	41395085	missense	probably benign	0.00
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'- CCAACAATAGGTCATTACTTCATGG -3'
(R):5'- ATGCCAGGTCTCTACTGCTTAC -3'

Sequencing Primer
(F):5'- CATGGTTAATCAACTGATGGCAC -3'
(R):5'- CAGGTGATCTTAAAGGGC -3'

Posted On

2019-10-07