Mutagenetix > Incidental Mutation

Incidental Mutation 'R8246:Kif6'

640777

Institutional Source

Beutler Lab

Gene Symbol

Kif6

Ensembl Gene

ENSMUSG00000023999

Gene Name

kinesin family member 6

Synonyms

D130084M03Rik, D130004B10Rik

MMRRC Submission

067852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R8246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49922164-50216875 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 50065542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 506 (Q506*)

Ref Sequence

ENSEMBL: ENSMUSP00000124674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162854]

AlphaFold

E9PX57

Predicted Effect

probably null
Transcript: ENSMUST00000162854
AA Change: Q506*

SMART Domains

Protein: ENSMUSP00000124674
Gene: ENSMUSG00000023999
AA Change: Q506*

Domain	Start	End	E-Value	Type
KISc	3	353	1.67e-121	SMART
coiled coil region	358	385	N/A	INTRINSIC
Blast:KISc	400	606	1e-85	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozgyos for an ENU-induced allele exhibit normal exercise capacity and cardiac function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	C	A	7: 80,742,524 (GRCm39)	D780E	probably benign	Het
Anln	A	C	9: 22,262,251 (GRCm39)	S947A	probably benign	Het
Borcs6	C	T	11: 68,951,377 (GRCm39)	P252S	probably benign	Het
Ccdc42	C	A	11: 68,478,122 (GRCm39)	Q28K	probably benign	Het
Cp	A	G	3: 20,029,186 (GRCm39)	I554M	probably damaging	Het
Dnm3	T	G	1: 162,135,486 (GRCm39)	D429A	probably damaging	Het
Dok5	A	G	2: 170,642,813 (GRCm39)	K37R	probably benign	Het
Dtwd2	A	T	18: 49,831,492 (GRCm39)	Y268N	probably benign	Het
Eif3a	T	C	19: 60,767,806 (GRCm39)	E244G	probably damaging	Het
Elapor2	T	C	5: 9,496,966 (GRCm39)	V810A	probably benign	Het
Fam149a	T	C	8: 45,834,655 (GRCm39)	E48G	probably benign	Het
Fam186a	T	A	15: 99,838,428 (GRCm39)	E2605D	unknown	Het
Fhip1b	T	C	7: 105,038,867 (GRCm39)	E124G	probably damaging	Het
Fyn	T	A	10: 39,405,525 (GRCm39)	W264R	probably damaging	Het
Gm10024	T	A	10: 77,547,369 (GRCm39)	S27T	unknown	Het
Gpr157	C	T	4: 150,186,753 (GRCm39)	L294F	possibly damaging	Het
Klrh1	A	G	6: 129,752,339 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,451,242 (GRCm39)	K707R	possibly damaging	Het
Mcub	C	A	3: 129,708,814 (GRCm39)	V328L	probably benign	Het
Mdn1	C	T	4: 32,657,284 (GRCm39)	P12S	probably benign	Het
Mrgprb3	T	G	7: 48,293,268 (GRCm39)	L94F	probably benign	Het
Mycbp2	G	T	14: 103,392,640 (GRCm39)	P3307Q	probably damaging	Het
Nol8	T	G	13: 49,808,724 (GRCm39)		probably benign	Het
Or11g2	A	G	14: 50,855,841 (GRCm39)	Y54C	probably benign	Het
Or4f57	T	C	2: 111,790,483 (GRCm39)	I312V	probably benign	Het
Pax5	T	C	4: 44,570,027 (GRCm39)	H286R	probably benign	Het
Rmdn2	T	A	17: 79,979,966 (GRCm39)	C381*	probably null	Het
Rpusd4	A	G	9: 35,183,876 (GRCm39)	I202V	probably benign	Het
Shank3	A	T	15: 89,417,549 (GRCm39)	R49W	possibly damaging	Het
Smurf2	T	C	11: 106,721,870 (GRCm39)	T542A	probably benign	Het
Sorcs2	G	A	5: 36,219,932 (GRCm39)	R371C	probably damaging	Het
Sqstm1	T	C	11: 50,101,388 (GRCm39)	H66R	probably damaging	Het
Stard8	C	T	X: 98,109,570 (GRCm39)	S155L	probably benign	Het
Svep1	A	T	4: 58,091,889 (GRCm39)	V1582D	probably damaging	Het
Tecrl	T	C	5: 83,427,156 (GRCm39)	M331V	probably damaging	Het
Tinf2	T	C	14: 55,917,042 (GRCm39)	S368G	probably damaging	Het
Tmem184c	A	T	8: 78,336,814 (GRCm39)	I14N	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ulk4	T	C	9: 120,985,941 (GRCm39)	*911W	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm39)	F2261L	unknown	Het
Vps16	G	C	2: 130,280,793 (GRCm39)	G241R	probably damaging	Het
Ythdc1	C	T	5: 86,965,181 (GRCm39)	T292I	possibly damaging	Het

Other mutations in Kif6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01793:Kif6	APN	17	49,931,521 (GRCm39)	missense	probably damaging	0.99
IGL02098:Kif6	APN	17	50,177,922 (GRCm39)	missense	probably benign	0.36
IGL02259:Kif6	APN	17	50,202,919 (GRCm39)	splice site	probably benign
IGL03003:Kif6	APN	17	50,060,899 (GRCm39)	nonsense	probably null
PIT4280001:Kif6	UTSW	17	50,062,148 (GRCm39)	missense	probably benign	0.32
R0044:Kif6	UTSW	17	50,139,284 (GRCm39)	splice site	probably benign
R1180:Kif6	UTSW	17	50,139,284 (GRCm39)	splice site	probably benign
R1432:Kif6	UTSW	17	49,927,728 (GRCm39)	missense	probably damaging	1.00
R1522:Kif6	UTSW	17	50,021,141 (GRCm39)	missense	probably damaging	0.99
R1760:Kif6	UTSW	17	49,922,311 (GRCm39)	missense	probably benign	0.00
R1770:Kif6	UTSW	17	50,210,677 (GRCm39)	missense	possibly damaging	0.92
R1809:Kif6	UTSW	17	50,208,812 (GRCm39)	missense	probably benign	0.00
R1854:Kif6	UTSW	17	50,208,799 (GRCm39)	missense	probably benign	0.25
R2176:Kif6	UTSW	17	50,062,258 (GRCm39)	missense	probably damaging	1.00
R3766:Kif6	UTSW	17	50,065,671 (GRCm39)	splice site	probably benign
R4620:Kif6	UTSW	17	50,208,324 (GRCm39)	missense	probably benign
R4661:Kif6	UTSW	17	50,060,909 (GRCm39)	missense	probably benign	0.21
R4972:Kif6	UTSW	17	50,014,647 (GRCm39)	missense	probably damaging	1.00
R5735:Kif6	UTSW	17	50,139,210 (GRCm39)	missense	probably damaging	1.00
R5950:Kif6	UTSW	17	50,022,116 (GRCm39)	missense	probably damaging	0.99
R6364:Kif6	UTSW	17	49,927,651 (GRCm39)	missense	probably benign	0.01
R7604:Kif6	UTSW	17	49,978,129 (GRCm39)	missense	probably damaging	1.00
R7879:Kif6	UTSW	17	50,139,214 (GRCm39)	missense	probably benign	0.08
R7966:Kif6	UTSW	17	49,993,453 (GRCm39)	missense	probably damaging	0.98
R8487:Kif6	UTSW	17	49,978,164 (GRCm39)	missense	probably damaging	1.00
X0067:Kif6	UTSW	17	50,139,195 (GRCm39)	missense	probably benign	0.01
Z1177:Kif6	UTSW	17	50,022,128 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCACCAAAGGGCACTAATC -3'
(R):5'- ACAGTTCAGACGACAGGTGTG -3'

Sequencing Primer
(F):5'- CACAATTATTTGGTTGGAGGACAG -3'
(R):5'- TGATGTGGAAACCCATCACG -3'

Posted On

2020-07-28