Mutagenetix > Incidental Mutation

Incidental Mutation 'R5152:Kif28'

395417

Institutional Source

Beutler Lab

Gene Symbol

Kif28

Ensembl Gene

ENSMUSG00000087236

Gene Name

kinesin family member 28

Synonyms

LOC383592, Gm1305

MMRRC Submission

042734-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R5152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179695297-179745271 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179702538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 686 (D686G)

Ref Sequence

ENSEMBL: ENSMUSP00000152770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000131716] [ENSMUST00000211943] [ENSMUST00000221136] [ENSMUST00000223392]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000131716
AA Change: D686G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: D686G

Domain	Start	End	E-Value	Type
KISc	3	331	1.02e-120	SMART
low complexity region	343	354	N/A	INTRINSIC
FHA	424	473	1.12e-3	SMART
Pfam:KIF1B	615	654	1.3e-7	PFAM
low complexity region	842	857	N/A	INTRINSIC
low complexity region	959	973	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211943
AA Change: D618G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221136
AA Change: D686G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223392

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,540,623	S1503P	probably benign	Het
Actn3	C	A	19: 4,863,544	V620F	probably damaging	Het
Adamtsl3	A	G	7: 82,574,544	K252E	probably benign	Het
Adgrg1	A	G	8: 95,009,745	Y509C	probably damaging	Het
Arhgef2	G	A	3: 88,629,568		probably null	Het
Bod1l	T	C	5: 41,816,543	E2476G	probably benign	Het
C130026I21Rik	G	A	1: 85,261,860	P19S	probably benign	Het
Capn3	T	C	2: 120,501,330		probably benign	Het
Catsperz	T	C	19: 6,923,337	T147A	probably benign	Het
Cc2d1b	C	A	4: 108,626,086	A289E	probably benign	Het
Ccdc170	A	C	10: 4,561,107	H722P	probably damaging	Het
Cdk13	C	A	13: 17,718,525	A1358S	probably benign	Het
Cntn6	T	A	6: 104,569,113		probably benign	Het
Coch	A	G	12: 51,595,442	N66D	probably benign	Het
Col12a1	A	G	9: 79,656,748	S1732P	probably damaging	Het
Copa	T	A	1: 172,118,061	V917E	probably benign	Het
Csmd2	C	A	4: 128,552,035	N3299K	probably benign	Het
Cyp2c67	A	T	19: 39,638,688	F233I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,434	H126L	probably damaging	Het
Ddx46	T	C	13: 55,659,030	L492P	probably damaging	Het
Dpysl3	C	T	18: 43,438,080	G43D	probably benign	Het
Enpp5	C	T	17: 44,081,133	P151L	probably damaging	Het
Exoc3l4	T	C	12: 111,430,893		probably benign	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Flg2	C	A	3: 93,214,977	P1485T	unknown	Het
Fmo5	A	G	3: 97,641,762	Y242C	probably benign	Het
Fsip2	C	A	2: 82,978,572	T1745N	probably benign	Het
Gata4	T	A	14: 63,241,121	N10Y	probably damaging	Het
Gm10722	A	C	9: 3,001,041	Y39S	probably benign	Het
Gm4787	A	C	12: 81,378,677	S236A	probably benign	Het
Gm9125	T	C	3: 94,050,144		probably benign	Het
Golga7	A	C	8: 23,245,949	S94A	probably benign	Het
Gpbp1	A	G	13: 111,453,281		probably benign	Het
Grm1	A	G	10: 11,079,875	Y222H	probably benign	Het
Gstcd	A	G	3: 133,084,956	Y17H	possibly damaging	Het
Hephl1	C	A	9: 15,080,185	D586Y	probably damaging	Het
Hpn	C	A	7: 31,099,836	V35L	probably damaging	Het
Il23r	T	A	6: 67,423,741	N535I	probably damaging	Het
Inpp4a	T	C	1: 37,358,535	I45T	possibly damaging	Het
Itgae	G	C	11: 73,130,995	G901R	probably damaging	Het
Kit	A	G	5: 75,620,847	E312G	probably benign	Het
Lamb2	C	A	9: 108,487,738	S1230R	probably benign	Het
Lars	A	T	18: 42,228,777	D588E	possibly damaging	Het
Lgr4	T	A	2: 110,000,603	F292I	probably damaging	Het
Lmf1	C	T	17: 25,655,519	S458L	probably damaging	Het
Lpin2	T	A	17: 71,245,159	C787S	probably damaging	Het
Ms4a4a	A	C	19: 11,388,312	I138L	probably benign	Het
Mterf1a	A	T	5: 3,890,984	F295I	probably damaging	Het
Muc4	A	T	16: 32,757,058	K241*	probably null	Het
Muc5b	T	C	7: 141,865,531	F4017S	possibly damaging	Het
Nfkbil1	T	C	17: 35,221,408		probably benign	Het
Olfr1269	A	G	2: 90,119,121	L159P	probably damaging	Het
Olfr935	A	T	9: 38,995,177	V86E	possibly damaging	Het
Olfr976	T	C	9: 39,956,906	T22A	probably benign	Het
Osgep	T	C	14: 50,917,858	D81G	probably damaging	Het
Otos	A	G	1: 92,644,394	F70S	probably damaging	Het
Pcdhb2	T	A	18: 37,296,126	V384D	probably damaging	Het
Ppp1r10	C	T	17: 35,929,252	P514S	probably damaging	Het
Pramef17	G	A	4: 143,994,260	P37L	probably damaging	Het
Prdm16	A	G	4: 154,346,102	Y309H	probably damaging	Het
Rap1gds1	A	T	3: 138,956,201	D382E	probably damaging	Het
Reln	A	G	5: 21,948,629	F2226L	probably damaging	Het
Rmi2	C	T	16: 10,839,901	T125M	probably damaging	Het
Setd1a	C	T	7: 127,784,025	T231I	probably benign	Het
Sftpa1	G	A	14: 41,134,352	G218D	probably damaging	Het
Shcbp1	A	T	8: 4,736,138	F655I	probably damaging	Het
Slc5a7	T	C	17: 54,278,833	I319V	possibly damaging	Het
Spata31d1c	C	T	13: 65,035,595	T317I	probably damaging	Het
Speg	C	T	1: 75,428,098	P2845S	possibly damaging	Het
Synpo2	A	G	3: 123,235,901		probably null	Het
Tdrd7	T	A	4: 46,013,191	S644T	probably damaging	Het
Tmem182	T	A	1: 40,838,300	Y112N	probably damaging	Het
Usp45	T	A	4: 21,824,815	N522K	probably benign	Het
Vnn3	A	T	10: 23,864,339	Y180F	probably benign	Het
Wnk1	C	T	6: 120,002,280	R282Q	possibly damaging	Het
Xrn1	A	T	9: 95,964,065	D57V	probably benign	Het
Zfp831	T	C	2: 174,644,564	V344A	probably benign	Het

Other mutations in Kif28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Kif28	APN	1	179702516	missense	probably damaging	1.00
IGL00581:Kif28	APN	1	179739957	missense	probably benign	0.14
R0348:Kif28	UTSW	1	179731253	missense	probably damaging	1.00
R0388:Kif28	UTSW	1	179740089	missense	possibly damaging	0.71
R0412:Kif28	UTSW	1	179702526	missense	probably benign	0.01
R0788:Kif28	UTSW	1	179705223	unclassified	probably benign
R0960:Kif28	UTSW	1	179695805	nonsense	probably null
R1365:Kif28	UTSW	1	179739987	nonsense	probably null
R1420:Kif28	UTSW	1	179702397	missense	probably damaging	1.00
R1442:Kif28	UTSW	1	179705132	missense	possibly damaging	0.73
R1507:Kif28	UTSW	1	179736006	missense	probably damaging	1.00
R1818:Kif28	UTSW	1	179705754	missense	possibly damaging	0.66
R1819:Kif28	UTSW	1	179705754	missense	possibly damaging	0.66
R1903:Kif28	UTSW	1	179702523	missense	possibly damaging	0.63
R2221:Kif28	UTSW	1	179733111	missense	possibly damaging	0.80
R2358:Kif28	UTSW	1	179709459	missense	probably damaging	1.00
R4916:Kif28	UTSW	1	179702520	missense	probably benign	0.09
R4943:Kif28	UTSW	1	179713951	missense	probably benign	0.02
R4967:Kif28	UTSW	1	179708442	missense	probably damaging	1.00
R4974:Kif28	UTSW	1	179698644	missense	probably damaging	0.98
R5382:Kif28	UTSW	1	179700282	missense	probably damaging	1.00
R5649:Kif28	UTSW	1	179697771	splice site	probably null
R5999:Kif28	UTSW	1	179695790	missense	probably damaging	1.00
R6017:Kif28	UTSW	1	179699453	missense	probably benign	0.24
R6180:Kif28	UTSW	1	179697772	splice site	probably null
R6875:Kif28	UTSW	1	179735994	missense	probably damaging	0.98
R7400:Kif28	UTSW	1	179700274	missense	probably damaging	1.00
R7402:Kif28	UTSW	1	179740079	missense	probably benign	0.00
R7530:Kif28	UTSW	1	179708480	missense	probably benign	0.31
R7589:Kif28	UTSW	1	179731400	missense	probably benign	0.01
R7648:Kif28	UTSW	1	179709424	missense	possibly damaging	0.89
R7815:Kif28	UTSW	1	179735983	missense	probably damaging	1.00
R8030:Kif28	UTSW	1	179699064	missense	probably benign	0.04
R8050:Kif28	UTSW	1	179709449	missense	probably benign	0.00
R8088:Kif28	UTSW	1	179700354	missense	probably damaging	1.00
R8781:Kif28	UTSW	1	179697916	missense	probably benign	0.00
R8947:Kif28	UTSW	1	179716755	missense	possibly damaging	0.94
R9011:Kif28	UTSW	1	179702419	missense	possibly damaging	0.89
R9161:Kif28	UTSW	1	179698679	missense	probably benign	0.29
R9164:Kif28	UTSW	1	179705768	missense	probably damaging	1.00
R9358:Kif28	UTSW	1	179736130	missense	probably benign	0.09
Z1176:Kif28	UTSW	1	179733134	missense	probably benign	0.05
Z1177:Kif28	UTSW	1	179728219	missense	not run

Predicted Primers

PCR Primer
(F):5'- CGTGAGAACTTTCTGGGAAGGG -3'
(R):5'- AGAAACAAATAGGTTGCCTTGG -3'

Sequencing Primer
(F):5'- AGAGACTCACCACCTTTCTGGG -3'
(R):5'- GGTCATGACGTCTCTTCACAG -3'

Posted On

2016-06-21