Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Kif24'

357998

Institutional Source

Beutler Lab

Gene Symbol

Kif24

Ensembl Gene

ENSMUSG00000028438

Gene Name

kinesin family member 24

Synonyms

4933425J19Rik

MMRRC Submission

041972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41390745-41464887 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 41397545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103690 (fasta)

Gene Model

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

AlphaFold

Q6NWW5

Predicted Effect

probably null
Transcript: ENSMUST00000030148

SMART Domains

Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438

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 null
Transcript: ENSMUST00000108055

SMART Domains

Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438

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

noncoding transcript
Transcript: ENSMUST00000141951

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	possibly 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
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
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'- GTATCTCCAAGAAGGCTGTGGAG -3'
(R):5'- GTCTTTTGTGAATAGAGCAAGCTG -3'

Sequencing Primer
(F):5'- TGGAGTTCAATGTCAGCTCAC -3'
(R):5'- GTGGCCAGCATCTTCACACAG -3'

Posted On

2015-11-11