Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Kif27'

15902

Institutional Source

Beutler Lab

Gene Symbol

Kif27

Ensembl Gene

ENSMUSG00000060176

Gene Name

kinesin family member 27

Synonyms

4930517I18Rik

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

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

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58435316-58506936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58451378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 983 (D983E)

Ref Sequence

ENSEMBL: ENSMUSP00000153598 (fasta)

Gene Model

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

AlphaFold

Q7M6Z4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043605
AA Change: D983E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043304
Gene: ENSMUSG00000060176
AA Change: D983E

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

noncoding transcript
Transcript: ENSMUST00000180882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190479

Predicted Effect

probably benign
Transcript: ENSMUST00000224694

Predicted Effect

probably damaging
Transcript: ENSMUST00000225388
AA Change: D983E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225680

Meta Mutation Damage Score

0.1056

Coding Region Coverage

1x: 90.0%
3x: 87.7%
10x: 82.4%
20x: 74.6%

Validation Efficiency

89% (108/122)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dcst2	T	C	3: 89,278,913 (GRCm39)	V550A	probably benign	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gm10648	T	C	7: 28,561,202 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Taok2	G	A	7: 126,465,583 (GRCm39)	H404Y	possibly damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Trav1	T	A	14: 52,666,155 (GRCm39)	S52T	probably damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,565 (GRCm39)	N364S	possibly damaging	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	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
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
R7480:Kif27	UTSW	13	58,436,025 (GRCm39)	missense	probably benign	0.34
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

Posted On

2013-01-08