Mutagenetix > Incidental Mutation

Incidental Mutation 'R7456:Kif23'

578139

Institutional Source

Beutler Lab

Gene Symbol

Kif23

Ensembl Gene

ENSMUSG00000032254

Gene Name

kinesin family member 23

Synonyms

Knsl5, CHO1, C87313, MKLP-1, 3110001D19Rik, MKLP1

MMRRC Submission

045530-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R7456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61824559-61854078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61844402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 139 (I139V)

Ref Sequence

ENSEMBL: ENSMUSP00000034815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034815] [ENSMUST00000214295]

AlphaFold

E9Q5G3

Predicted Effect

probably benign
Transcript: ENSMUST00000034815
AA Change: I139V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: I139V

Domain	Start	End	E-Value	Type
KISc	23	444	6.56e-147	SMART
Blast:KISc	524	607	8e-20	BLAST
low complexity region	661	678	N/A	INTRINSIC
low complexity region	681	693	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
Pfam:MKLP1_Arf_bdg	796	899	9.2e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214295
AA Change: I139V

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	A	G	4: 86,792,748 (GRCm39)	D8G	possibly damaging	Het
Angpt4	T	C	2: 151,780,987 (GRCm39)	Y412H	probably damaging	Het
Ankef1	A	G	2: 136,387,734 (GRCm39)	D217G	probably benign	Het
Ano2	A	T	6: 125,940,508 (GRCm39)	I544F	probably benign	Het
App	G	A	16: 84,970,448 (GRCm39)			Het
Arhgef26	A	G	3: 62,247,476 (GRCm39)	T187A	probably benign	Het
Axin1	T	A	17: 26,362,139 (GRCm39)	V161E	probably damaging	Het
Bbs7	A	T	3: 36,648,527 (GRCm39)	V407D	probably damaging	Het
C1qtnf3	A	T	15: 10,972,137 (GRCm39)	E141V	probably benign	Het
C2	A	G	17: 35,083,558 (GRCm39)	I469T	probably damaging	Het
Cc2d1a	A	G	8: 84,866,868 (GRCm39)		probably null	Het
Cd226	A	T	18: 89,224,747 (GRCm39)	I10F	probably damaging	Het
Cep295nl	T	C	11: 118,224,376 (GRCm39)	K156R	possibly damaging	Het
Cfap20dc	A	T	14: 8,442,933 (GRCm38)	L612*	probably null	Het
Cfap44	A	G	16: 44,252,305 (GRCm39)	T805A	probably benign	Het
Chd9	G	T	8: 91,659,153 (GRCm39)	E38*	probably null	Het
Cldnd2	C	T	7: 43,091,109 (GRCm39)	L14F	not run	Het
Cyp11b2	T	C	15: 74,725,379 (GRCm39)	T247A	probably benign	Het
Dennd11	T	G	6: 40,383,774 (GRCm39)	M423L	probably benign	Het
Dsc1	T	C	18: 20,219,879 (GRCm39)	S764G	probably benign	Het
Dsg3	A	T	18: 20,664,420 (GRCm39)	T473S	probably benign	Het
Fam193a	A	T	5: 34,578,132 (GRCm39)	I209F	possibly damaging	Het
Foxs1	T	C	2: 152,775,045 (GRCm39)	K3E	probably benign	Het
Gabrr3	C	T	16: 59,227,853 (GRCm39)	Q37*	probably null	Het
Gcm2	A	T	13: 41,256,751 (GRCm39)	W333R	probably benign	Het
Gcn1	C	T	5: 115,743,005 (GRCm39)	Q1559*	probably null	Het
Gfm2	A	T	13: 97,282,211 (GRCm39)	K69*	probably null	Het
Gm14295	T	G	2: 176,500,943 (GRCm39)	C144W	possibly damaging	Het
Gm32742	G	A	9: 51,071,270 (GRCm39)	T5I	probably damaging	Het
Gm5093	T	C	17: 46,750,679 (GRCm39)	D116G	probably damaging	Het
Gsn	A	T	2: 35,172,718 (GRCm39)	K3N	possibly damaging	Het
H2-M2	C	T	17: 37,792,552 (GRCm39)	D240N	possibly damaging	Het
Habp2	G	C	19: 56,307,957 (GRCm39)	G482R	probably damaging	Het
Hnrnpm	A	T	17: 33,865,622 (GRCm39)	Y680N	possibly damaging	Het
Hrc	T	A	7: 44,986,320 (GRCm39)	D490E	possibly damaging	Het
Impg2	A	G	16: 56,080,276 (GRCm39)	I693M	probably benign	Het
Itga7	A	G	10: 128,777,805 (GRCm39)	Y262C	probably damaging	Het
Kif1c	A	G	11: 70,619,424 (GRCm39)	T1020A	probably benign	Het
Klk1b5	A	G	7: 43,500,255 (GRCm39)	E281G	probably benign	Het
Kpna4	A	G	3: 69,000,181 (GRCm39)	V275A	probably damaging	Het
Lamb2	C	A	9: 108,362,979 (GRCm39)	D787E	possibly damaging	Het
Ldlrad3	A	C	2: 101,785,270 (GRCm39)	V235G	probably damaging	Het
Maneal	A	G	4: 124,750,767 (GRCm39)	S330P	probably damaging	Het
Maz	G	A	7: 126,625,489 (GRCm39)	Q35*	probably null	Het
Mthfd1l	C	T	10: 4,039,998 (GRCm39)	T803M	probably damaging	Het
Muc5ac	A	G	7: 141,346,904 (GRCm39)	Q325R	probably benign	Het
Myo3a	C	A	2: 22,412,255 (GRCm39)	A758E	probably benign	Het
Ndufb7	A	G	8: 84,293,482 (GRCm39)	D12G	probably benign	Het
Nsun2	T	A	13: 69,781,725 (GRCm39)	C677S	probably damaging	Het
Obscn	A	G	11: 58,899,384 (GRCm39)	F6471S	probably benign	Het
Or4c106	A	T	2: 88,682,563 (GRCm39)	I90F	probably damaging	Het
Or51k1	A	G	7: 103,661,045 (GRCm39)	V288A	possibly damaging	Het
Or7g32	T	C	9: 19,408,844 (GRCm39)	S267P	probably damaging	Het
Otof	T	C	5: 30,552,005 (GRCm39)	D313G	probably damaging	Het
Paqr5	T	C	9: 61,880,072 (GRCm39)	D74G	probably benign	Het
Pigq	A	G	17: 26,153,580 (GRCm39)	V365A	unknown	Het
Podn	A	T	4: 107,875,002 (GRCm39)	N588K	probably benign	Het
Polr3b	G	A	10: 84,458,355 (GRCm39)	G9R	probably benign	Het
Proser1	A	G	3: 53,385,939 (GRCm39)	H607R	probably damaging	Het
Ryr2	C	T	13: 11,767,168 (GRCm39)	V1241I	probably benign	Het
Sar1b	G	A	11: 51,682,181 (GRCm39)	A170T	probably benign	Het
Slc22a17	T	C	14: 55,149,716 (GRCm39)	T191A	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,779 (GRCm39)		unknown	Het
Slco6d1	A	T	1: 98,349,082 (GRCm39)	D51V	possibly damaging	Het
Snx16	G	A	3: 10,500,541 (GRCm39)	R143*	probably null	Het
Sytl2	T	A	7: 89,998,055 (GRCm39)	L19Q	probably damaging	Het
Tmcc3	A	G	10: 94,418,174 (GRCm39)	E345G	possibly damaging	Het
Ttn	C	T	2: 76,555,998 (GRCm39)	A30336T	probably damaging	Het
Vmn1r44	A	G	6: 89,870,401 (GRCm39)	D49G	probably benign	Het
Vps35l	C	T	7: 118,403,340 (GRCm39)	P628S	probably benign	Het
Vps41	T	A	13: 19,048,204 (GRCm39)	D801E	probably benign	Het
Wif1	G	A	10: 120,932,554 (GRCm39)	E311K	probably benign	Het
Zfp513	G	T	5: 31,357,759 (GRCm39)	R207S	possibly damaging	Het
Zfp52	C	A	17: 21,781,615 (GRCm39)	H488N	probably damaging	Het
Zfp738	A	G	13: 67,817,619 (GRCm39)	Y791H	probably damaging	Het

Other mutations in Kif23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Kif23	APN	9	61,833,750 (GRCm39)	missense	probably benign	0.19
IGL00814:Kif23	APN	9	61,844,389 (GRCm39)	missense	possibly damaging	0.95
IGL01295:Kif23	APN	9	61,839,411 (GRCm39)	missense	possibly damaging	0.89
IGL01521:Kif23	APN	9	61,827,182 (GRCm39)	missense	probably damaging	0.99
IGL01583:Kif23	APN	9	61,842,750 (GRCm39)	missense	probably damaging	1.00
IGL01680:Kif23	APN	9	61,839,096 (GRCm39)	missense	probably benign	0.17
IGL02450:Kif23	APN	9	61,831,239 (GRCm39)	missense	probably benign	0.00
IGL02698:Kif23	APN	9	61,832,283 (GRCm39)	missense	possibly damaging	0.49
IGL03152:Kif23	APN	9	61,837,058 (GRCm39)	splice site	probably benign
IGL03233:Kif23	APN	9	61,833,735 (GRCm39)	missense	probably benign	0.05
H8562:Kif23	UTSW	9	61,831,347 (GRCm39)	missense	probably benign
R0225:Kif23	UTSW	9	61,832,976 (GRCm39)	splice site	probably benign
R0419:Kif23	UTSW	9	61,833,687 (GRCm39)	nonsense	probably null
R0512:Kif23	UTSW	9	61,826,257 (GRCm39)	splice site	probably benign
R0731:Kif23	UTSW	9	61,832,314 (GRCm39)	missense	possibly damaging	0.67
R0980:Kif23	UTSW	9	61,844,046 (GRCm39)	missense	possibly damaging	0.93
R1315:Kif23	UTSW	9	61,831,270 (GRCm39)	splice site	probably null
R1347:Kif23	UTSW	9	61,834,438 (GRCm39)	missense	probably damaging	0.99
R1347:Kif23	UTSW	9	61,834,438 (GRCm39)	missense	probably damaging	0.99
R1451:Kif23	UTSW	9	61,832,084 (GRCm39)	missense	probably damaging	1.00
R1624:Kif23	UTSW	9	61,832,982 (GRCm39)	splice site	probably null
R1820:Kif23	UTSW	9	61,833,720 (GRCm39)	missense	possibly damaging	0.67
R1867:Kif23	UTSW	9	61,826,243 (GRCm39)	missense	possibly damaging	0.87
R1937:Kif23	UTSW	9	61,853,892 (GRCm39)	critical splice donor site	probably null
R2001:Kif23	UTSW	9	61,834,666 (GRCm39)	nonsense	probably null
R2002:Kif23	UTSW	9	61,834,666 (GRCm39)	nonsense	probably null
R2310:Kif23	UTSW	9	61,831,426 (GRCm39)	missense	probably damaging	1.00
R2680:Kif23	UTSW	9	61,844,758 (GRCm39)	missense	probably benign	0.25
R3196:Kif23	UTSW	9	61,839,193 (GRCm39)	nonsense	probably null
R3774:Kif23	UTSW	9	61,832,274 (GRCm39)	missense	probably benign	0.00
R3775:Kif23	UTSW	9	61,832,274 (GRCm39)	missense	probably benign	0.00
R3776:Kif23	UTSW	9	61,832,274 (GRCm39)	missense	probably benign	0.00
R4349:Kif23	UTSW	9	61,839,396 (GRCm39)	missense	probably damaging	1.00
R4671:Kif23	UTSW	9	61,852,641 (GRCm39)	missense	probably benign	0.04
R4981:Kif23	UTSW	9	61,839,153 (GRCm39)	missense	probably damaging	1.00
R4983:Kif23	UTSW	9	61,843,985 (GRCm39)	missense	probably benign	0.01
R5685:Kif23	UTSW	9	61,852,691 (GRCm39)	missense	probably benign	0.12
R5721:Kif23	UTSW	9	61,851,498 (GRCm39)	missense	probably benign	0.45
R6903:Kif23	UTSW	9	61,834,436 (GRCm39)	missense	possibly damaging	0.77
R7067:Kif23	UTSW	9	61,832,271 (GRCm39)	missense	probably benign	0.01
R7103:Kif23	UTSW	9	61,827,174 (GRCm39)	missense	probably damaging	0.99
R7468:Kif23	UTSW	9	61,844,457 (GRCm39)	nonsense	probably null
R8357:Kif23	UTSW	9	61,834,317 (GRCm39)	critical splice donor site	probably null
R8457:Kif23	UTSW	9	61,834,317 (GRCm39)	critical splice donor site	probably null
R8716:Kif23	UTSW	9	61,844,477 (GRCm39)	missense	probably damaging	1.00
R8783:Kif23	UTSW	9	61,834,853 (GRCm39)	missense	probably benign	0.00
R9028:Kif23	UTSW	9	61,828,341 (GRCm39)	missense	probably damaging	0.99
R9137:Kif23	UTSW	9	61,834,713 (GRCm39)	missense	probably damaging	0.97
R9283:Kif23	UTSW	9	61,852,651 (GRCm39)	missense	probably benign
R9430:Kif23	UTSW	9	61,834,722 (GRCm39)	missense	probably damaging	1.00
R9457:Kif23	UTSW	9	61,851,507 (GRCm39)	missense	probably benign	0.02
R9533:Kif23	UTSW	9	61,832,924 (GRCm39)	missense	probably benign
Z1177:Kif23	UTSW	9	61,831,445 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACATTTACACCTGGGGAAAGG -3'
(R):5'- AATTGCCTGTTGGATCTTGTGATAC -3'

Sequencing Primer
(F):5'- GTATATACTACCCAAGTGCTGCC -3'
(R):5'- GTGAAATGTTCTGTGGGAC -3'

Posted On

2019-10-07