Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Kifc3'

408385

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kifc3

Ensembl Gene

ENSMUSG00000031788

Gene Name

kinesin family member C3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

95099828-95202812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95102412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 584 (S584P)

Ref Sequence

ENSEMBL: ENSMUSP00000148425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034239] [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000212968] [ENSMUST00000213004]

AlphaFold

O35231

Predicted Effect

probably benign
Transcript: ENSMUST00000034239

SMART Domains

Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787

Domain	Start	End	E-Value	Type
WD40	9	49	2.61e-3	SMART
WD40	52	91	2.45e-8	SMART
WD40	94	133	3.58e-10	SMART
WD40	136	175	7.49e-13	SMART
WD40	178	217	5.14e-11	SMART
WD40	220	258	1.14e-3	SMART
low complexity region	354	373	N/A	INTRINSIC
low complexity region	396	412	N/A	INTRINSIC
Pfam:Katanin_con80	496	654	8.2e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000034240
AA Change: S721P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788
AA Change: S721P

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
coiled coil region	100	360	N/A	INTRINSIC
coiled coil region	393	430	N/A	INTRINSIC
KISc	441	774	3.15e-158	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169353
AA Change: S606P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788
AA Change: S606P

Domain	Start	End	E-Value	Type
coiled coil region	33	223	N/A	INTRINSIC
coiled coil region	256	293	N/A	INTRINSIC
KISc	304	637	3.15e-158	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169748
AA Change: S675P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788
AA Change: S675P

Domain	Start	End	E-Value	Type
coiled coil region	34	324	N/A	INTRINSIC
coiled coil region	357	394	N/A	INTRINSIC
KISc	405	728	3.11e-148	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212895

Predicted Effect

probably benign
Transcript: ENSMUST00000212968

Predicted Effect

probably damaging
Transcript: ENSMUST00000213004
AA Change: S584P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
4930452B06Rik	A	G	14: 8,511,113	S434P	probably damaging	Het
4931406B18Rik	A	G	7: 43,495,633	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,940,369	S200R	possibly damaging	Het
Adam29	T	C	8: 55,873,065	D118G	probably damaging	Het
Adh4	A	G	3: 138,429,145	D360G	probably benign	Het
Ankle2	A	G	5: 110,251,610	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,273,373		probably benign	Het
Ap1g2	T	A	14: 55,106,047	I28F	probably damaging	Het
Baz2a	C	T	10: 128,125,146	T1608I	possibly damaging	Het
C530008M17Rik	A	G	5: 76,857,616	D608G	unknown	Het
Cacnb4	T	C	2: 52,474,882	D123G	probably damaging	Het
Cage1	G	A	13: 38,028,147	T51M	probably benign	Het
Ccdc63	A	G	5: 122,122,813	V216A	probably benign	Het
Ccnd2	A	G	6: 127,148,878	V65A	probably damaging	Het
Chd3	T	A	11: 69,354,404	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,677		probably benign	Het
Cobl	G	T	11: 12,254,241	N813K	possibly damaging	Het
Cog5	G	A	12: 31,790,922	V249M	probably damaging	Het
Cps1	A	G	1: 67,142,921	N98S	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,713	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,294,317	V603A	possibly damaging	Het
F12	A	G	13: 55,421,519		probably benign	Het
Ficd	G	A	5: 113,736,929	V20I	probably benign	Het
Gatad2b	G	T	3: 90,341,937	G94V	probably benign	Het
Gm4845	G	A	1: 141,256,665		noncoding transcript	Het
Hrnr	G	A	3: 93,320,601	V9I	possibly damaging	Het
Klk1b24	C	A	7: 44,191,366	Q73K	probably benign	Het
Lrp10	C	A	14: 54,469,162	N518K	possibly damaging	Het
Lsr	A	G	7: 30,959,281	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,709,703	M1K	probably null	Het
Mprip	T	A	11: 59,741,115		probably null	Het
Myo3b	G	T	2: 70,426,816		probably benign	Het
Olfr1019	T	C	2: 85,841,072	T240A	probably damaging	Het
Olfr123	T	A	17: 37,796,271	Y276N	probably damaging	Het
Olfr1463	C	T	19: 13,235,054	S268L	probably damaging	Het
Olfr32	A	T	2: 90,138,662	I159N	possibly damaging	Het
Olfr365	T	C	2: 37,201,871	V210A	probably benign	Het
Oprd1	A	G	4: 132,117,385	F104S	possibly damaging	Het
Palb2	A	G	7: 122,113,256	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,490,733	D372V	probably damaging	Het
Phc3	A	G	3: 30,936,853	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,641,947		probably benign	Het
Pik3ip1	A	G	11: 3,333,259	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,591,976	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,596,902	V4169A	probably benign	Het
Pklr	A	T	3: 89,142,656	I313F	probably damaging	Het
Plxna4	T	A	6: 32,202,225	T952S	probably benign	Het
Pop4	A	T	7: 38,263,306	I178N	probably damaging	Het
Prss40	A	C	1: 34,558,101	V122G	probably damaging	Het
Rapgef2	C	A	3: 79,074,307		probably null	Het
Rbm19	A	G	5: 120,131,246	D538G	probably damaging	Het
Rnf44	G	A	13: 54,681,990	R312*	probably null	Het
Rock1	T	C	18: 10,070,215		probably benign	Het
Rrp1b	A	G	17: 32,056,901	E474G	probably damaging	Het
Ryr2	T	A	13: 11,684,479	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,939,505	S801P	probably damaging	Het
Skint6	T	C	4: 113,012,956	I602V	probably benign	Het
Slc6a19	C	A	13: 73,700,471	V55L	probably damaging	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Trappc11	C	A	8: 47,513,929	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,286,846	W75*	probably null	Het
Vmn2r52	A	G	7: 10,158,872	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,381,315	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,044,968	K74M	probably damaging	Het
Wrn	T	A	8: 33,248,961	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,580,845	T82A	probably benign	Het
Zfp82	T	C	7: 30,057,465	E64G	probably benign	Het

Other mutations in Kifc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00720:Kifc3	APN	8	95138016	missense	probably damaging	1.00
IGL01904:Kifc3	APN	8	95137957	missense	possibly damaging	0.81
IGL02019:Kifc3	APN	8	95107540	splice site	probably benign
IGL02090:Kifc3	APN	8	95102480	missense	probably damaging	1.00
IGL02355:Kifc3	APN	8	95109879	missense	probably damaging	1.00
IGL02362:Kifc3	APN	8	95109879	missense	probably damaging	1.00
IGL02620:Kifc3	APN	8	95109954	missense	probably damaging	0.98
IGL02720:Kifc3	APN	8	95108365	missense	probably benign	0.00
IGL03327:Kifc3	APN	8	95108432	missense	probably damaging	1.00
IGL03390:Kifc3	APN	8	95108613	missense	probably damaging	1.00
R0233:Kifc3	UTSW	8	95101472	splice site	probably null
R0281:Kifc3	UTSW	8	95103460	missense	probably damaging	1.00
R0302:Kifc3	UTSW	8	95103470	missense	possibly damaging	0.50
R0619:Kifc3	UTSW	8	95102665	missense	probably benign	0.13
R0731:Kifc3	UTSW	8	95105733	missense	probably damaging	1.00
R1017:Kifc3	UTSW	8	95105785	missense	probably damaging	0.99
R1147:Kifc3	UTSW	8	95137918	missense	probably damaging	1.00
R1147:Kifc3	UTSW	8	95137918	missense	probably damaging	1.00
R1257:Kifc3	UTSW	8	95105772	missense	probably damaging	0.98
R1472:Kifc3	UTSW	8	95137913	critical splice donor site	probably null
R1480:Kifc3	UTSW	8	95109887	missense	probably damaging	1.00
R1553:Kifc3	UTSW	8	95106542	missense	possibly damaging	0.67
R2071:Kifc3	UTSW	8	95108353	critical splice donor site	probably null
R2115:Kifc3	UTSW	8	95108713	missense	probably damaging	1.00
R3703:Kifc3	UTSW	8	95104028	splice site	probably benign
R3704:Kifc3	UTSW	8	95104028	splice site	probably benign
R3705:Kifc3	UTSW	8	95104028	splice site	probably benign
R4223:Kifc3	UTSW	8	95109982	missense	probably damaging	0.96
R4463:Kifc3	UTSW	8	95102116	missense	probably damaging	1.00
R4508:Kifc3	UTSW	8	95107420	splice site	probably null
R4980:Kifc3	UTSW	8	95126549	missense	probably benign
R5032:Kifc3	UTSW	8	95102726	missense	probably damaging	1.00
R5068:Kifc3	UTSW	8	95110216	missense	possibly damaging	0.54
R5421:Kifc3	UTSW	8	95109845	missense	probably damaging	0.99
R5556:Kifc3	UTSW	8	95108459	nonsense	probably null
R6845:Kifc3	UTSW	8	95108679	missense	probably benign	0.28
R7136:Kifc3	UTSW	8	95103449	missense	probably benign	0.10
R7196:Kifc3	UTSW	8	95106611	missense	probably benign	0.02
R7404:Kifc3	UTSW	8	95103464	missense	probably benign	0.02
R7441:Kifc3	UTSW	8	95137987	missense	probably benign	0.00
R7784:Kifc3	UTSW	8	95110692	critical splice donor site	probably null
R7861:Kifc3	UTSW	8	95107537	critical splice acceptor site	probably null
R8440:Kifc3	UTSW	8	95109794	missense	possibly damaging	0.89
R8754:Kifc3	UTSW	8	95102396	missense	probably damaging	1.00
R8983:Kifc3	UTSW	8	95106476	missense	probably damaging	1.00
R9035:Kifc3	UTSW	8	95126567	missense	possibly damaging	0.52
R9149:Kifc3	UTSW	8	95126689	missense	probably benign
R9464:Kifc3	UTSW	8	95103994	missense	possibly damaging	0.61
R9589:Kifc3	UTSW	8	95134744	missense	possibly damaging	0.87
X0023:Kifc3	UTSW	8	95109298	missense	probably benign	0.00

Posted On

2016-08-02