Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Kif27'

367437

Institutional Source

Beutler Lab

Gene Symbol

Kif27

Ensembl Gene

ENSMUSG00000060176

Gene Name

kinesin family member 27

Synonyms

4930517I18Rik

MMRRC Submission

042410-MU

Accession Numbers

Essential gene?

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

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58435316-58506936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58492191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 316 (T316M)

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: T316M

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

SMART Domains

Protein: ENSMUSP00000043304
Gene: ENSMUSG00000060176
AA Change: T316M

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 damaging
Transcript: ENSMUST00000225388
AA Change: T316M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Ecm1	A	G	3: 95,645,273 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Epb41l1	T	A	2: 156,371,344 (GRCm39)	M727K	probably benign	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itga2b	A	G	11: 102,351,582 (GRCm39)	F581S	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412 (GRCm39)		probably null	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,006,008 (GRCm39)	F360S	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,361,905 (GRCm39)	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp646	T	A	7: 127,482,649 (GRCm39)	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTGAAGATGCCTGGCTAG -3'
(R):5'- ACTGGGAACACTGGTGAAC -3'

Sequencing Primer
(F):5'- CTAGCTTGGCTGATACTGGCC -3'
(R):5'- GGTGAACGATTCAAAGAGTCCATTC -3'

Posted On

2015-12-29