Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Kifc3'

165002

Institutional Source

Beutler Lab

Gene Symbol

Kifc3

Ensembl Gene

ENSMUSG00000031788

Gene Name

kinesin family member C3

Synonyms

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1472 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

95826456-95929440 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 95864541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034240] [ENSMUST00000169748] [ENSMUST00000212076] [ENSMUST00000212424] [ENSMUST00000212554] [ENSMUST00000212786] [ENSMUST00000212842]

AlphaFold

O35231

Predicted Effect

probably null
Transcript: ENSMUST00000034240

SMART Domains

Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788

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 benign
Transcript: ENSMUST00000169748

SMART Domains

Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788

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

probably benign
Transcript: ENSMUST00000212076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212199

Predicted Effect

probably null
Transcript: ENSMUST00000212424

Predicted Effect

probably null
Transcript: ENSMUST00000212554

Predicted Effect

probably benign
Transcript: ENSMUST00000212786

Predicted Effect

probably null
Transcript: ENSMUST00000212842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212925

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,773,313 (GRCm39)	T834M	possibly damaging	Het
Ak1	T	C	2: 32,520,313 (GRCm39)	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,470,754 (GRCm39)	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bmp10	A	G	6: 87,410,779 (GRCm39)	I191V	probably benign	Het
C2cd6	A	T	1: 59,106,944 (GRCm39)	S294T	possibly damaging	Het
C4b	T	A	17: 34,962,743 (GRCm39)	K20*	probably null	Het
Caps2	C	T	10: 112,015,377 (GRCm39)	T139I	probably benign	Het
Cdc25a	T	C	9: 109,705,157 (GRCm39)	S34P	probably benign	Het
Cenpv	T	C	11: 62,427,121 (GRCm39)	I146V	probably benign	Het
Cep57	A	T	9: 13,732,850 (GRCm39)	F32I	probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntrl	T	C	2: 35,059,329 (GRCm39)		probably null	Het
Cpd	A	G	11: 76,675,224 (GRCm39)	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,752,092 (GRCm39)	V283A	probably benign	Het
Crot	A	G	5: 9,016,941 (GRCm39)	C584R	probably damaging	Het
Ctsc	A	C	7: 87,930,670 (GRCm39)	H83P	possibly damaging	Het
Dido1	T	C	2: 180,302,513 (GRCm39)	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,602,821 (GRCm39)	Q148*	probably null	Het
Dnah3	T	C	7: 119,670,181 (GRCm39)	D688G	probably benign	Het
Dnmt1	T	C	9: 20,843,472 (GRCm39)	E138G	probably benign	Het
Edc4	T	A	8: 106,619,460 (GRCm39)	M1396K	probably damaging	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,715,255 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,333,199 (GRCm39)	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,700,127 (GRCm39)	T103K	probably damaging	Het
Lama3	T	A	18: 12,615,102 (GRCm39)	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,915,718 (GRCm39)	M98K	probably damaging	Het
Map3k21	T	C	8: 126,668,417 (GRCm39)	S668P	probably benign	Het
Mcpt8	T	C	14: 56,319,791 (GRCm39)	T220A	probably benign	Het
Mettl13	C	T	1: 162,364,736 (GRCm39)	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,767,860 (GRCm39)	M411T	probably benign	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,978,137 (GRCm39)	I1302V	probably benign	Het
Mrpl45	C	T	11: 97,214,681 (GRCm39)	R123*	probably null	Het
Mstn	T	A	1: 53,101,157 (GRCm39)	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,191 (GRCm39)	S168P	possibly damaging	Het
Muc15	G	T	2: 110,561,905 (GRCm39)	V114F	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Myocd	G	T	11: 65,078,330 (GRCm39)	H360Q	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nav3	T	C	10: 109,563,802 (GRCm39)	E1627G	probably damaging	Het
Nlrp14	T	C	7: 106,781,910 (GRCm39)	L369P	probably benign	Het
Nlrp6	A	G	7: 140,503,408 (GRCm39)	T505A	probably damaging	Het
Npbwr1	T	C	1: 5,986,900 (GRCm39)	S205G	probably damaging	Het
Nsmaf	G	A	4: 6,423,448 (GRCm39)	R307*	probably null	Het
Or5h19	A	T	16: 58,856,920 (GRCm39)	L60Q	probably damaging	Het
Or9i1b	T	C	19: 13,897,208 (GRCm39)	S275P	probably damaging	Het
Parp9	T	G	16: 35,774,050 (GRCm39)	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,289,533 (GRCm39)	N346S	probably benign	Het
Pikfyve	T	A	1: 65,263,360 (GRCm39)	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026 (GRCm39)	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,866,033 (GRCm39)	H305L	probably damaging	Het
Prss47	A	G	13: 65,197,103 (GRCm39)	L117P	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rcn2	C	T	9: 55,963,537 (GRCm39)	P222L	probably benign	Het
Rnf144b	T	C	13: 47,396,361 (GRCm39)	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,665,436 (GRCm39)	L196P	probably damaging	Het
Sik2	A	G	9: 50,920,111 (GRCm39)	I22T	probably damaging	Het
Sis	A	G	3: 72,796,360 (GRCm39)	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,110,916 (GRCm39)	F437S	probably benign	Het
Slc39a13	A	T	2: 90,899,050 (GRCm39)	C20*	probably null	Het
Sos2	C	T	12: 69,632,090 (GRCm39)		probably null	Het
Sst	A	G	16: 23,709,448 (GRCm39)	V16A	probably benign	Het
Stab1	C	T	14: 30,863,543 (GRCm39)	G2073D	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sugct	A	T	13: 17,627,131 (GRCm39)	C241S	probably benign	Het
Svil	T	A	18: 5,048,950 (GRCm39)	C76S	probably benign	Het
Tcaf1	A	G	6: 42,663,382 (GRCm39)	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,855,322 (GRCm39)	N801K	possibly damaging	Het
Tox3	T	C	8: 90,980,973 (GRCm39)	N277S	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Tshz1	A	C	18: 84,031,930 (GRCm39)	L826R	possibly damaging	Het
Ttn	C	T	2: 76,597,196 (GRCm39)	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Wnt5b	G	A	6: 119,410,442 (GRCm39)	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,319,356 (GRCm39)	T191A	probably benign	Het
Zc3h4	A	G	7: 16,168,695 (GRCm39)	N935D	unknown	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp110	T	C	7: 12,582,468 (GRCm39)	V372A	possibly damaging	Het
Zmym2	C	T	14: 57,148,640 (GRCm39)	S318L	probably benign	Het

Other mutations in Kifc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00720:Kifc3	APN	8	95,864,644 (GRCm39)	missense	probably damaging	1.00
IGL01904:Kifc3	APN	8	95,864,585 (GRCm39)	missense	possibly damaging	0.81
IGL02019:Kifc3	APN	8	95,834,168 (GRCm39)	splice site	probably benign
IGL02090:Kifc3	APN	8	95,829,108 (GRCm39)	missense	probably damaging	1.00
IGL02355:Kifc3	APN	8	95,836,507 (GRCm39)	missense	probably damaging	1.00
IGL02362:Kifc3	APN	8	95,836,507 (GRCm39)	missense	probably damaging	1.00
IGL02620:Kifc3	APN	8	95,836,582 (GRCm39)	missense	probably damaging	0.98
IGL02720:Kifc3	APN	8	95,834,993 (GRCm39)	missense	probably benign	0.00
IGL03030:Kifc3	APN	8	95,829,040 (GRCm39)	missense	probably damaging	1.00
IGL03327:Kifc3	APN	8	95,835,060 (GRCm39)	missense	probably damaging	1.00
IGL03390:Kifc3	APN	8	95,835,241 (GRCm39)	missense	probably damaging	1.00
R0233:Kifc3	UTSW	8	95,828,100 (GRCm39)	splice site	probably null
R0281:Kifc3	UTSW	8	95,830,088 (GRCm39)	missense	probably damaging	1.00
R0302:Kifc3	UTSW	8	95,830,098 (GRCm39)	missense	possibly damaging	0.50
R0619:Kifc3	UTSW	8	95,829,293 (GRCm39)	missense	probably benign	0.13
R0731:Kifc3	UTSW	8	95,832,361 (GRCm39)	missense	probably damaging	1.00
R1017:Kifc3	UTSW	8	95,832,413 (GRCm39)	missense	probably damaging	0.99
R1147:Kifc3	UTSW	8	95,864,546 (GRCm39)	missense	probably damaging	1.00
R1147:Kifc3	UTSW	8	95,864,546 (GRCm39)	missense	probably damaging	1.00
R1257:Kifc3	UTSW	8	95,832,400 (GRCm39)	missense	probably damaging	0.98
R1480:Kifc3	UTSW	8	95,836,515 (GRCm39)	missense	probably damaging	1.00
R1553:Kifc3	UTSW	8	95,833,170 (GRCm39)	missense	possibly damaging	0.67
R2071:Kifc3	UTSW	8	95,834,981 (GRCm39)	critical splice donor site	probably null
R2115:Kifc3	UTSW	8	95,835,341 (GRCm39)	missense	probably damaging	1.00
R3703:Kifc3	UTSW	8	95,830,656 (GRCm39)	splice site	probably benign
R3704:Kifc3	UTSW	8	95,830,656 (GRCm39)	splice site	probably benign
R3705:Kifc3	UTSW	8	95,830,656 (GRCm39)	splice site	probably benign
R4223:Kifc3	UTSW	8	95,836,610 (GRCm39)	missense	probably damaging	0.96
R4463:Kifc3	UTSW	8	95,828,744 (GRCm39)	missense	probably damaging	1.00
R4508:Kifc3	UTSW	8	95,834,048 (GRCm39)	splice site	probably null
R4980:Kifc3	UTSW	8	95,853,177 (GRCm39)	missense	probably benign
R5032:Kifc3	UTSW	8	95,829,354 (GRCm39)	missense	probably damaging	1.00
R5068:Kifc3	UTSW	8	95,836,844 (GRCm39)	missense	possibly damaging	0.54
R5421:Kifc3	UTSW	8	95,836,473 (GRCm39)	missense	probably damaging	0.99
R5556:Kifc3	UTSW	8	95,835,087 (GRCm39)	nonsense	probably null
R6845:Kifc3	UTSW	8	95,835,307 (GRCm39)	missense	probably benign	0.28
R7136:Kifc3	UTSW	8	95,830,077 (GRCm39)	missense	probably benign	0.10
R7196:Kifc3	UTSW	8	95,833,239 (GRCm39)	missense	probably benign	0.02
R7404:Kifc3	UTSW	8	95,830,092 (GRCm39)	missense	probably benign	0.02
R7441:Kifc3	UTSW	8	95,864,615 (GRCm39)	missense	probably benign	0.00
R7784:Kifc3	UTSW	8	95,837,320 (GRCm39)	critical splice donor site	probably null
R7861:Kifc3	UTSW	8	95,834,165 (GRCm39)	critical splice acceptor site	probably null
R8440:Kifc3	UTSW	8	95,836,422 (GRCm39)	missense	possibly damaging	0.89
R8754:Kifc3	UTSW	8	95,829,024 (GRCm39)	missense	probably damaging	1.00
R8983:Kifc3	UTSW	8	95,833,104 (GRCm39)	missense	probably damaging	1.00
R9035:Kifc3	UTSW	8	95,853,195 (GRCm39)	missense	possibly damaging	0.52
R9149:Kifc3	UTSW	8	95,853,317 (GRCm39)	missense	probably benign
R9464:Kifc3	UTSW	8	95,830,622 (GRCm39)	missense	possibly damaging	0.61
R9589:Kifc3	UTSW	8	95,861,372 (GRCm39)	missense	possibly damaging	0.87
X0023:Kifc3	UTSW	8	95,835,926 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTTTAACCGGCTCCAGCCTTC -3'
(R):5'- TGCAGACCCTTCCAGATGGTACAG -3'

Sequencing Primer
(F):5'- CTCCTCCCAGGCTGGAC -3'
(R):5'- CCAGAAGAGGTTACTGAGCCC -3'

Posted On

2014-03-28