Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Kif28'

31387

Institutional Source

Beutler Lab

Gene Symbol

Kif28

Ensembl Gene

ENSMUSG00000087236

Gene Name

kinesin family member 28

Synonyms

LOC383592, Gm1305

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.422) question?

Stock #

R0388 (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 179740089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 39 (I39V)

Ref Sequence

ENSEMBL: ENSMUSP00000152770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027768] [ENSMUST00000131716] [ENSMUST00000211943] [ENSMUST00000221136]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027768

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491

Domain	Start	End	E-Value	Type
Pfam:ELYS-bb	1	489	1.6e-307	PFAM
Pfam:ELYS	722	955	2.5e-58	PFAM
low complexity region	1138	1155	N/A	INTRINSIC
low complexity region	1180	1192	N/A	INTRINSIC
low complexity region	1352	1366	N/A	INTRINSIC
low complexity region	1597	1610	N/A	INTRINSIC
low complexity region	1684	1694	N/A	INTRINSIC
low complexity region	1834	1841	N/A	INTRINSIC
low complexity region	1918	1935	N/A	INTRINSIC
AT_hook	1955	1967	3.35e-1	SMART
low complexity region	2060	2066	N/A	INTRINSIC
low complexity region	2073	2084	N/A	INTRINSIC
low complexity region	2096	2108	N/A	INTRINSIC
Blast:KISc	2164	2217	2e-12	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131716
AA Change: I39V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: I39V

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

probably benign
Transcript: ENSMUST00000211943
AA Change: I39V

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221136
AA Change: I39V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	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
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
R5152:Kif28	UTSW	1	179702538	missense	probably damaging	1.00
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'- GCGACTTACCTGGCCTGCAAATTTAC -3'
(R):5'- TGGCAGATCCTACGACTAAGGTCAAAG -3'

Sequencing Primer
(F):5'- GGTAAAGGTCTTCACACGCTCTT -3'
(R):5'- gagagagagagggagagagag -3'

Posted On

2013-04-24