Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Kifc3'

607523

Institutional Source

Beutler Lab

Gene Symbol

Kifc3

Ensembl Gene

ENSMUSG00000031788

Gene Name

kinesin family member C3

Synonyms

MMRRC Submission

045914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95826456-95929440 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 95834165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000212424] [ENSMUST00000212787] [ENSMUST00000212968] [ENSMUST00000213004]

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 null
Transcript: ENSMUST00000169353

SMART Domains

Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788

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 null
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: ENSMUST00000212424

Predicted Effect

probably benign
Transcript: ENSMUST00000212787

Predicted Effect

probably benign
Transcript: ENSMUST00000212968

Predicted Effect

probably null
Transcript: ENSMUST00000213004

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,797,360 (GRCm39)	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,248,075 (GRCm39)	D1175G	probably null	Het
Accs	C	A	2: 93,666,077 (GRCm39)	*503L	probably null	Het
Adgra2	A	G	8: 27,604,485 (GRCm39)	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,681,525 (GRCm39)	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,706,990 (GRCm39)	D9A	unknown	Het
Atad2	G	A	15: 57,989,176 (GRCm39)	A228V	probably benign	Het
Atp10a	T	C	7: 58,438,107 (GRCm39)	S430P	probably damaging	Het
Atp1a3	T	C	7: 24,700,573 (GRCm39)	D6G	unknown	Het
Brca1	A	T	11: 101,417,248 (GRCm39)	N295K	possibly damaging	Het
Caly	C	A	7: 139,661,301 (GRCm39)		probably benign	Het
Ces1h	A	G	8: 94,084,053 (GRCm39)	Y386H	unknown	Het
Col14a1	A	G	15: 55,308,012 (GRCm39)	D1044G	unknown	Het
Csf2rb	A	G	15: 78,233,357 (GRCm39)	D888G	probably damaging	Het
Cux1	T	C	5: 136,281,458 (GRCm39)	E568G	possibly damaging	Het
Dhrs7b	T	A	11: 60,746,568 (GRCm39)	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnah14	C	T	1: 181,444,324 (GRCm39)	P545S	probably damaging	Het
Dnajc24	A	T	2: 105,832,380 (GRCm39)	M1K	probably null	Het
Dusp12	C	T	1: 170,702,095 (GRCm39)	W301*	probably null	Het
Dyrk1a	G	T	16: 94,492,575 (GRCm39)	G603*	probably null	Het
Eif4g1	T	A	16: 20,498,452 (GRCm39)	V403E	probably benign	Het
Epn3	T	C	11: 94,387,100 (GRCm39)	E90G	probably damaging	Het
Etl4	A	G	2: 20,810,721 (GRCm39)	S1303G	probably benign	Het
Evpl	A	T	11: 116,118,895 (GRCm39)	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,493,625 (GRCm39)	L22*	probably null	Het
Fcamr	T	A	1: 130,742,375 (GRCm39)	N587K	probably benign	Het
Fgd6	A	G	10: 93,939,193 (GRCm39)	N946S	probably benign	Het
Fndc3b	A	T	3: 27,523,148 (GRCm39)	I477N	possibly damaging	Het
Grifin	C	T	5: 140,550,280 (GRCm39)	A54T	probably benign	Het
Gtf2b	A	G	3: 142,487,105 (GRCm39)	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559 (GRCm39)	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,458,788 (GRCm39)	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,420,623 (GRCm39)	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,917,322 (GRCm39)	D617E	probably damaging	Het
Kirrel3	C	T	9: 34,931,419 (GRCm39)	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,443,820 (GRCm39)	V132I	probably benign	Het
Kmt2a	A	G	9: 44,730,031 (GRCm39)	S3429P	unknown	Het
Lama1	T	G	17: 68,116,216 (GRCm39)	L2361R		Het
Lrp1b	T	C	2: 40,587,570 (GRCm39)	D3895G		Het
Mcoln3	A	C	3: 145,830,546 (GRCm39)	E92A	possibly damaging	Het
Myo3b	T	C	2: 69,939,032 (GRCm39)	M135T	probably damaging	Het
Mysm1	A	G	4: 94,835,204 (GRCm39)	*820Q	probably null	Het
Ncoa7	A	G	10: 30,567,056 (GRCm39)	S541P	probably benign	Het
Nup54	T	C	5: 92,578,952 (GRCm39)	T33A	unknown	Het
Or10al2	C	A	17: 37,983,408 (GRCm39)	Q165K	possibly damaging	Het
Or13a17	T	G	7: 140,271,484 (GRCm39)	I222S	probably damaging	Het
Or1s2	T	C	19: 13,758,810 (GRCm39)	V276A	possibly damaging	Het
Or4k42	T	A	2: 111,320,369 (GRCm39)	I45F	probably damaging	Het
Or51a5	T	A	7: 102,771,899 (GRCm39)	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414 (GRCm39)	C18R	probably benign	Het
Pde4d	A	G	13: 110,071,858 (GRCm39)	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pidd1	C	A	7: 141,020,055 (GRCm39)	W598L	probably damaging	Het
Pira2	A	T	7: 3,847,543 (GRCm39)	C49S	probably damaging	Het
Pramel11	T	C	4: 143,624,288 (GRCm39)	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,550,935 (GRCm39)	D135E	probably benign	Het
Rab15	T	A	12: 76,849,903 (GRCm39)	Y88F	probably damaging	Het
Rem2	C	A	14: 54,715,256 (GRCm39)	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,301,406 (GRCm39)	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,295,666 (GRCm39)	Q119*	probably null	Het
Suclg2	G	T	6: 95,571,703 (GRCm39)	Q120K	probably benign	Het
Tacc2	T	A	7: 130,227,161 (GRCm39)	M1282K	probably benign	Het
Tbc1d5	T	A	17: 51,063,720 (GRCm39)	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,709,590 (GRCm39)	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,087,435 (GRCm39)	F1184Y	probably benign	Het
Trim28	T	A	7: 12,762,339 (GRCm39)	V321E	possibly damaging	Het
Trim5	C	A	7: 103,915,675 (GRCm39)		probably null	Het
Ugt2b37	A	T	5: 87,390,299 (GRCm39)	Y382*	probably null	Het
Usp40	C	T	1: 87,909,852 (GRCm39)	G534D	probably damaging	Het
Usp53	A	T	3: 122,728,112 (GRCm39)	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,235,829 (GRCm39)	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,449,351 (GRCm39)	I296F	probably benign	Het
Vps13a	T	C	19: 16,632,668 (GRCm39)	S2563G	probably damaging	Het
Wdr59	A	G	8: 112,220,912 (GRCm39)	F207L		Het
Zan	A	G	5: 137,405,295 (GRCm39)	S3777P	unknown	Het
Zfp277	T	C	12: 40,365,880 (GRCm39)	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,745,749 (GRCm39)	R10W	probably damaging	Het
Zfp384	A	T	6: 125,013,288 (GRCm39)	H452L	probably damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve28	A	T	5: 34,374,487 (GRCm39)	L509Q	probably damaging	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
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'- AGTGCCACCATTGCACAGTAC -3'
(R):5'- GCAGCCAAGTACTCAGTCTC -3'

Sequencing Primer
(F):5'- TACCATGGCCAAGGAGCTTTG -3'
(R):5'- AGCCAAGTACTCAGTCTCTGGTC -3'

Posted On

2019-12-20