Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00814:Kif23'

11622

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif23

Ensembl Gene

ENSMUSG00000032254

Gene Name

kinesin family member 23

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

IGL00814

Quality Score

Status

Chromosome

Chromosomal Location

61824559-61854078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61844389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 143 (I143K)

Ref Sequence

ENSEMBL: ENSMUSP00000149553 (fasta)

Gene Model

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

AlphaFold

E9Q5G3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034815
AA Change: I143K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: I143K

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

noncoding transcript
Transcript: ENSMUST00000213595

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214295
AA Change: I143K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216717

Coding Region Coverage

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cops6	G	T	5: 138,161,640 (GRCm39)	R58L	probably damaging	Het
Elmo1	T	A	13: 20,470,894 (GRCm39)	M262K	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Gria4	A	T	9: 4,472,202 (GRCm39)	M429K	probably damaging	Het
Hipk2	G	A	6: 38,795,484 (GRCm39)	R262W	probably damaging	Het
Mbtd1	T	A	11: 93,834,666 (GRCm39)	S615T	possibly damaging	Het
Nlrp9c	C	T	7: 26,084,175 (GRCm39)	S468N	probably benign	Het
Nt5c2	A	T	19: 46,886,087 (GRCm39)	D212E	probably benign	Het
Or52e19	A	T	7: 102,959,014 (GRCm39)	I29L	probably benign	Het
Pck2	T	C	14: 55,785,756 (GRCm39)		probably benign	Het
Pdcd6ip	T	C	9: 113,516,721 (GRCm39)	Q230R	probably damaging	Het
Pomk	T	C	8: 26,473,624 (GRCm39)	T110A	probably benign	Het
Psg23	C	T	7: 18,348,608 (GRCm39)	W66*	probably null	Het
Rnf144b	T	C	13: 47,373,964 (GRCm39)		probably benign	Het
Sppl2c	G	A	11: 104,077,805 (GRCm39)	G202S	possibly damaging	Het
Thnsl2	A	C	6: 71,116,867 (GRCm39)	L95R	probably damaging	Het
Ttn	A	G	2: 76,637,511 (GRCm39)	V12248A	probably benign	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
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
R7456:Kif23	UTSW	9	61,844,402 (GRCm39)	missense	probably benign	0.09
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

Posted On

2012-12-06