Mutagenetix > Incidental Mutation

Incidental Mutation 'R7480:Kif27'

579759

Institutional Source

Beutler Lab

Gene Symbol

Kif27

Ensembl Gene

ENSMUSG00000060176

Gene Name

kinesin family member 27

Synonyms

4930517I18Rik

MMRRC Submission

045554-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R7480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58435316-58506936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58436025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1256 (V1256E)

Ref Sequence

ENSEMBL: ENSMUSP00000043304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043605] [ENSMUST00000224694] [ENSMUST00000225388]

AlphaFold

Q7M6Z4

Predicted Effect

probably benign
Transcript: ENSMUST00000043605
AA Change: V1256E

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043304
Gene: ENSMUSG00000060176
AA Change: V1256E

Domain	Start	End	E-Value	Type
KISc	3	349	9.18e-160	SMART
low complexity region	369	385	N/A	INTRINSIC
coiled coil region	386	418	N/A	INTRINSIC
Blast:KISc	486	566	5e-29	BLAST
coiled coil region	710	790	N/A	INTRINSIC
coiled coil region	835	891	N/A	INTRINSIC
coiled coil region	916	972	N/A	INTRINSIC
low complexity region	993	1008	N/A	INTRINSIC
coiled coil region	1010	1078	N/A	INTRINSIC
coiled coil region	1186	1226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224694

Predicted Effect

probably benign
Transcript: ENSMUST00000225388
AA Change: V1256E

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mice are small and die by 8 weeks and exhibit hydrocephalus, rhinitis and otitis media. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted(2) Gene trapped(7)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	T	G	9: 50,733,928 (GRCm39)	M542R	probably benign	Het
Apol10b	G	T	15: 77,472,988 (GRCm39)	A22D	probably benign	Het
Arhgap45	T	A	10: 79,862,936 (GRCm39)	L704*	probably null	Het
Bicc1	T	C	10: 70,779,306 (GRCm39)	D694G	probably damaging	Het
C1ql3	A	T	2: 13,015,150 (GRCm39)	I170N	probably damaging	Het
Casz1	T	C	4: 149,029,043 (GRCm39)	F1163L	probably damaging	Het
Ces2f	A	G	8: 105,681,338 (GRCm39)	K559R	possibly damaging	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Cr2	C	T	1: 194,836,484 (GRCm39)	C893Y	probably damaging	Het
Csf1r	T	G	18: 61,250,610 (GRCm39)	D440E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dapk1	A	G	13: 60,905,311 (GRCm39)	D1007G	probably benign	Het
Dlk1	T	A	12: 109,421,540 (GRCm39)	C85S	probably damaging	Het
Epb41l3	A	C	17: 69,568,867 (GRCm39)		probably null	Het
Eri2	T	A	7: 119,385,734 (GRCm39)	R256*	probably null	Het
Fshr	A	C	17: 89,292,802 (GRCm39)	Y625*	probably null	Het
Galk2	A	G	2: 125,788,845 (GRCm39)	I300V	probably benign	Het
Garin1a	G	A	6: 29,281,435 (GRCm39)		probably null	Het
Gm3409	T	A	5: 146,476,311 (GRCm39)	V154E	probably damaging	Het
Gm7356	A	G	17: 14,221,327 (GRCm39)	I234T	possibly damaging	Het
Gtf3c1	T	C	7: 125,241,713 (GRCm39)	Y1995C	probably benign	Het
Herc6	C	T	6: 57,558,206 (GRCm39)	T62I	possibly damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hmcn1	A	T	1: 150,552,985 (GRCm39)		probably null	Het
Iqca1l	T	G	5: 24,751,904 (GRCm39)	E498A	probably damaging	Het
Jrk	G	T	15: 74,578,902 (GRCm39)	P128T	probably benign	Het
Kctd14	T	C	7: 97,107,431 (GRCm39)	F229L	probably benign	Het
Klk13	T	C	7: 43,370,846 (GRCm39)	S133P	probably benign	Het
Mpzl1	A	G	1: 165,432,257 (GRCm39)	V176A	possibly damaging	Het
Mxi1	A	G	19: 53,360,066 (GRCm39)	T263A	possibly damaging	Het
Nfxl1	C	T	5: 72,716,595 (GRCm39)	W5*	probably null	Het
Nt5dc1	C	A	10: 34,200,449 (GRCm39)	G190V	probably damaging	Het
Nt5dc1	C	T	10: 34,200,450 (GRCm39)	G190R	probably damaging	Het
Oprd1	A	G	4: 131,844,492 (GRCm39)	I172T	possibly damaging	Het
Or1f19	A	T	16: 3,410,493 (GRCm39)	T78S	probably benign	Het
Or4k38	A	G	2: 111,165,737 (GRCm39)	S229P	probably benign	Het
Or6f1	A	G	7: 85,970,888 (GRCm39)	S91P	probably benign	Het
Or7e173	C	T	9: 19,939,230 (GRCm39)	M1I	probably null	Het
Pafah1b1	A	C	11: 74,576,740 (GRCm39)	C184G	probably damaging	Het
Pde5a	A	T	3: 122,596,797 (GRCm39)	N495Y	possibly damaging	Het
Piezo1	A	T	8: 123,225,234 (GRCm39)	Y588*	probably null	Het
Plekha7	A	T	7: 115,736,403 (GRCm39)		probably null	Het
Pramel11	T	C	4: 143,622,065 (GRCm39)	D430G	probably benign	Het
Prdm11	T	C	2: 92,805,669 (GRCm39)	K427R	probably benign	Het
Rai14	C	A	15: 10,571,622 (GRCm39)	E940D	probably benign	Het
Rasl11b	T	A	5: 74,358,771 (GRCm39)	V92E	possibly damaging	Het
Rassf8	T	A	6: 145,765,757 (GRCm39)	I29K	unknown	Het
Reg3a	C	T	6: 78,359,330 (GRCm39)	T110I	probably damaging	Het
Scaf1	C	T	7: 44,657,073 (GRCm39)	G602D	unknown	Het
Senp6	T	C	9: 80,029,199 (GRCm39)	C521R	probably damaging	Het
Senp7	G	A	16: 55,975,589 (GRCm39)	V432I	possibly damaging	Het
Skint8	A	T	4: 111,785,784 (GRCm39)	R77*	probably null	Het
Slamf9	G	A	1: 172,305,040 (GRCm39)	C218Y	probably damaging	Het
Slc8a1	T	C	17: 81,956,649 (GRCm39)	T130A	probably damaging	Het
Smpdl3a	A	G	10: 57,678,574 (GRCm39)	I126V	possibly damaging	Het
Taar9	T	A	10: 23,984,843 (GRCm39)	N197I	possibly damaging	Het
Tango6	A	T	8: 107,423,359 (GRCm39)	D378V	possibly damaging	Het
Tfb2m	A	G	1: 179,356,747 (GRCm39)	F396L	probably benign	Het
Thbs4	G	A	13: 92,903,729 (GRCm39)	P429L	probably benign	Het
Tnxb	A	G	17: 34,934,747 (GRCm39)	D2452G	probably damaging	Het
Ulk3	C	T	9: 57,498,523 (GRCm39)	R131*	probably null	Het
Vmn1r179	A	T	7: 23,628,558 (GRCm39)	R250*	probably null	Het
Vmn1r54	A	G	6: 90,246,160 (GRCm39)	I25V	possibly damaging	Het
Wnt7a	C	A	6: 91,371,395 (GRCm39)	R189L	probably benign	Het
Wrap73	A	G	4: 154,237,043 (GRCm39)	D210G	probably benign	Het
Xpo6	G	A	7: 125,701,505 (GRCm39)	R1112*	probably null	Het
Zfp114	T	A	7: 23,881,307 (GRCm39)	V552D	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Kif27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Kif27	APN	13	58,485,418 (GRCm39)	missense	probably benign
IGL00421:Kif27	APN	13	58,491,703 (GRCm39)	missense	probably damaging	1.00
IGL00903:Kif27	APN	13	58,492,486 (GRCm39)	missense	possibly damaging	0.69
IGL01024:Kif27	APN	13	58,436,015 (GRCm39)	missense	possibly damaging	0.71
IGL01070:Kif27	APN	13	58,491,907 (GRCm39)	missense	probably damaging	1.00
IGL01761:Kif27	APN	13	58,485,459 (GRCm39)	missense	probably benign
IGL02160:Kif27	APN	13	58,473,812 (GRCm39)	missense	probably damaging	1.00
IGL03162:Kif27	APN	13	58,459,021 (GRCm39)	missense	probably benign	0.03
P0016:Kif27	UTSW	13	58,451,266 (GRCm39)	nonsense	probably null
R0016:Kif27	UTSW	13	58,502,528 (GRCm39)	missense	probably damaging	1.00
R0016:Kif27	UTSW	13	58,502,528 (GRCm39)	missense	probably damaging	1.00
R0018:Kif27	UTSW	13	58,435,867 (GRCm39)	missense	probably benign
R0018:Kif27	UTSW	13	58,435,867 (GRCm39)	missense	probably benign
R0049:Kif27	UTSW	13	58,451,378 (GRCm39)	missense	probably damaging	1.00
R0049:Kif27	UTSW	13	58,451,378 (GRCm39)	missense	probably damaging	1.00
R0481:Kif27	UTSW	13	58,459,078 (GRCm39)	splice site	probably benign
R0960:Kif27	UTSW	13	58,471,781 (GRCm39)	missense	probably damaging	0.99
R1015:Kif27	UTSW	13	58,468,029 (GRCm39)	missense	probably damaging	1.00
R1205:Kif27	UTSW	13	58,492,019 (GRCm39)	missense	probably benign	0.00
R1478:Kif27	UTSW	13	58,451,359 (GRCm39)	missense	probably damaging	0.98
R1789:Kif27	UTSW	13	58,491,822 (GRCm39)	missense	probably damaging	1.00
R1959:Kif27	UTSW	13	58,440,937 (GRCm39)	missense	probably benign	0.00
R1961:Kif27	UTSW	13	58,440,937 (GRCm39)	missense	probably benign	0.00
R3508:Kif27	UTSW	13	58,461,026 (GRCm39)	missense	possibly damaging	0.88
R4168:Kif27	UTSW	13	58,493,562 (GRCm39)	missense	probably benign	0.01
R4247:Kif27	UTSW	13	58,435,731 (GRCm39)	missense	probably damaging	0.98
R4307:Kif27	UTSW	13	58,491,937 (GRCm39)	missense	probably benign	0.00
R4621:Kif27	UTSW	13	58,478,827 (GRCm39)	missense	probably benign	0.13
R4660:Kif27	UTSW	13	58,471,730 (GRCm39)	missense	probably damaging	0.99
R4661:Kif27	UTSW	13	58,471,730 (GRCm39)	missense	probably damaging	0.99
R4736:Kif27	UTSW	13	58,476,785 (GRCm39)	missense	probably benign	0.04
R4770:Kif27	UTSW	13	58,492,191 (GRCm39)	missense	probably damaging	1.00
R4853:Kif27	UTSW	13	58,459,072 (GRCm39)	missense	probably benign	0.06
R4963:Kif27	UTSW	13	58,476,808 (GRCm39)	missense	possibly damaging	0.85
R4998:Kif27	UTSW	13	58,440,957 (GRCm39)	missense	probably damaging	0.98
R5134:Kif27	UTSW	13	58,438,904 (GRCm39)	missense	possibly damaging	0.80
R5225:Kif27	UTSW	13	58,440,915 (GRCm39)	missense	possibly damaging	0.88
R5835:Kif27	UTSW	13	58,460,960 (GRCm39)	critical splice donor site	probably null
R5875:Kif27	UTSW	13	58,458,918 (GRCm39)	missense	probably benign	0.01
R5929:Kif27	UTSW	13	58,491,784 (GRCm39)	missense	probably benign	0.01
R6175:Kif27	UTSW	13	58,459,051 (GRCm39)	missense	probably damaging	1.00
R6446:Kif27	UTSW	13	58,493,530 (GRCm39)	missense	probably damaging	1.00
R6628:Kif27	UTSW	13	58,502,611 (GRCm39)	missense	probably damaging	1.00
R8381:Kif27	UTSW	13	58,438,991 (GRCm39)	missense	probably benign	0.00
R8815:Kif27	UTSW	13	58,476,818 (GRCm39)	missense	probably damaging	0.97
R8993:Kif27	UTSW	13	58,473,912 (GRCm39)	missense	possibly damaging	0.93
R9181:Kif27	UTSW	13	58,492,543 (GRCm39)	missense	probably damaging	1.00
R9486:Kif27	UTSW	13	58,492,348 (GRCm39)	missense	probably damaging	1.00
Z1088:Kif27	UTSW	13	58,435,847 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATCGGCAATGCTCTGCAG -3'
(R):5'- GGCACATGTCTGTCTGTCTG -3'

Sequencing Primer
(F):5'- AATGCTCTGCAGTTGGCCAC -3'
(R):5'- CACATGTCTGTCTGTCTGAAGAAATC -3'

Posted On

2019-10-07