Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Kifc3'

694899

Institutional Source

Beutler Lab

Gene Symbol

Kifc3

Ensembl Gene

ENSMUSG00000031788

Gene Name

kinesin family member C3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95826456-95929440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95853317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 13 (I13T)

Ref Sequence

ENSEMBL: ENSMUSP00000126784 (fasta)

Gene Model

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

AlphaFold

O35231

Predicted Effect

probably benign
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
AA Change: I13T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788
AA Change: I13T

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

probably benign
Transcript: ENSMUST00000212424

Predicted Effect

probably benign
Transcript: ENSMUST00000212554
AA Change: I156T

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000212786

Predicted Effect

probably benign
Transcript: ENSMUST00000212842

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,396,304 (GRCm39)	S103N	probably benign	Het
Ace	A	G	11: 105,863,299 (GRCm39)	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,257,116 (GRCm39)	H115L	probably damaging	Het
Adam15	G	A	3: 89,254,742 (GRCm39)	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,883,948 (GRCm39)	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,092,481 (GRCm39)	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,627,276 (GRCm39)	H225L	probably benign	Het
Aff3	A	G	1: 38,220,397 (GRCm39)	I1171T	probably damaging	Het
Agps	T	A	2: 75,697,182 (GRCm39)	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,652,678 (GRCm39)		probably null	Het
Als2cl	G	A	9: 110,718,191 (GRCm39)	V311M	probably benign	Het
Amdhd1	A	T	10: 93,375,813 (GRCm39)	L7H	probably damaging	Het
Apba1	A	T	19: 23,870,782 (GRCm39)	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,244,917 (GRCm39)	E187D	possibly damaging	Het
Ash1l	A	T	3: 88,914,530 (GRCm39)	H1720L	probably benign	Het
Atp9a	T	C	2: 168,575,988 (GRCm39)		probably benign	Het
Bcl7c	G	A	7: 127,307,695 (GRCm39)	A2V	probably damaging	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Ccdc103	G	A	11: 102,774,922 (GRCm39)	G174R	probably benign	Het
Ccdc171	A	T	4: 83,612,512 (GRCm39)	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,173,360 (GRCm39)	N276S	possibly damaging	Het
Cep152	T	C	2: 125,463,127 (GRCm39)	E18G	probably damaging	Het
Cep152	T	C	2: 125,461,803 (GRCm39)	N91S	probably damaging	Het
Cers3	T	C	7: 66,393,442 (GRCm39)	L17P	probably benign	Het
Cpsf3	A	G	12: 21,356,844 (GRCm39)	N489S	possibly damaging	Het
Cramp1	A	G	17: 25,187,920 (GRCm39)	S1225P	probably damaging	Het
Dck	G	A	5: 88,913,166 (GRCm39)	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,914 (GRCm39)	E3124D	probably benign	Het
Dync2i2	T	A	2: 29,923,953 (GRCm39)	T191S	probably benign	Het
Eogt	T	G	6: 97,090,839 (GRCm39)	L433F	probably damaging	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fsip2	T	C	2: 82,812,374 (GRCm39)	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,205,249 (GRCm39)	H249R	probably benign	Het
Gbp10	T	G	5: 105,366,861 (GRCm39)	Q457P	probably damaging	Het
Gin1	G	C	1: 97,710,819 (GRCm39)	L167F	probably damaging	Het
Gm14226	A	T	2: 154,866,843 (GRCm39)	I267F	probably damaging	Het
Gmnc	A	G	16: 26,781,642 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,576,402 (GRCm39)	I311F	probably damaging	Het
Heg1	A	G	16: 33,558,961 (GRCm39)	K1085E	probably benign	Het
Hmbs	G	A	9: 44,252,983 (GRCm39)	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,151 (GRCm39)	M28K	probably benign	Het
Ifi27l2a	T	C	12: 103,405,678 (GRCm39)	V141A	possibly damaging	Het
Ift122	T	A	6: 115,867,492 (GRCm39)	I414N	probably damaging	Het
Iglv2	A	T	16: 19,079,434 (GRCm39)	V23E	probably damaging	Het
Itgax	A	T	7: 127,730,641 (GRCm39)	I120L	probably benign	Het
Lmod3	T	C	6: 97,224,625 (GRCm39)	N399D	probably damaging	Het
Macf1	A	T	4: 123,365,326 (GRCm39)	I3145K	probably benign	Het
Map2k5	A	C	9: 63,201,006 (GRCm39)	I209S	probably damaging	Het
Mbd5	A	G	2: 49,141,388 (GRCm39)	E117G	probably damaging	Het
Milr1	A	G	11: 106,652,105 (GRCm39)	H172R	probably benign	Het
Myod1	A	C	7: 46,026,593 (GRCm39)	D166A		Het
Neb	C	T	2: 52,100,878 (GRCm39)	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,574,055 (GRCm39)	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,330,572 (GRCm39)	V608D	probably benign	Het
Noc3l	G	A	19: 38,800,835 (GRCm39)	Q216*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	T	A	2: 90,552,585 (GRCm39)		probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oat	C	T	7: 132,166,006 (GRCm39)	S193N	probably benign	Het
Oma1	A	G	4: 103,182,214 (GRCm39)		probably null	Het
Or12e13	G	T	2: 87,663,523 (GRCm39)	G47*	probably null	Het
Or1e16	T	A	11: 73,286,853 (GRCm39)		probably benign	Het
Or1j15	T	G	2: 36,458,988 (GRCm39)	F126C	probably benign	Het
Or6c206	A	G	10: 129,097,184 (GRCm39)	Y118C	probably damaging	Het
Or6c216	A	G	10: 129,678,482 (GRCm39)	V143A	probably damaging	Het
Os9	A	G	10: 126,933,918 (GRCm39)	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,047,660 (GRCm39)	N541I		Het
Pcnx4	A	G	12: 72,613,671 (GRCm39)	I539V	probably benign	Het
Ppfia3	T	A	7: 44,999,717 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,722,098 (GRCm39)	K275E	probably benign	Het
Pten	A	G	19: 32,769,972 (GRCm39)	N63S	probably benign	Het
Rptor	A	G	11: 119,777,896 (GRCm39)	N1020S	probably benign	Het
Sall2	C	A	14: 52,550,673 (GRCm39)	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,519,762 (GRCm39)	H1172L	probably benign	Het
Scaf4	A	T	16: 90,027,054 (GRCm39)	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,524,750 (GRCm39)	R11L	probably damaging	Het
Skint6	T	A	4: 113,034,173 (GRCm39)	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,049,205 (GRCm39)	N348S	probably benign	Het
Slc44a2	G	T	9: 21,253,305 (GRCm39)	K77N	possibly damaging	Het
Smc1b	C	T	15: 84,950,431 (GRCm39)	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Stra8	T	C	6: 34,911,016 (GRCm39)	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,097,010 (GRCm39)	R445L	probably benign	Het
Sycp1	A	C	3: 102,758,944 (GRCm39)	L771R	probably damaging	Het
Tchp	A	T	5: 114,859,184 (GRCm39)	R493*	probably null	Het
Ttc13	G	A	8: 125,410,039 (GRCm39)	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186 (GRCm39)	T2338I	unknown	Het
Wac	A	G	18: 7,921,592 (GRCm39)	D576G	probably damaging	Het
Xdh	T	C	17: 74,222,688 (GRCm39)	N559S	probably benign	Het
Zscan20	A	T	4: 128,481,914 (GRCm39)	S583T	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
R1472:Kifc3	UTSW	8	95,864,541 (GRCm39)	critical splice donor site	probably null
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
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'- CCTGACAATGTCCTCTGACC -3'
(R):5'- TAAAGTGACTTCCCCAGAGGCC -3'

Sequencing Primer
(F):5'- AGTGAGTGGCCTCTGCTCATC -3'
(R):5'- GCAAACCCATTTTGCTGT -3'

Posted On

2022-01-20