Mutagenetix > Incidental Mutation

Incidental Mutation 'R9164:Kif28'

695887

Institutional Source

Beutler Lab

Gene Symbol

Kif28

Ensembl Gene

ENSMUSG00000087236

Gene Name

kinesin family member 28

Synonyms

LOC383592, Gm1305

MMRRC Submission

068944-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R9164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179695297-179745271 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 179705768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 604 (M604K)

Ref Sequence

ENSEMBL: ENSMUSP00000152770 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: M604K

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: M536K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221136
AA Change: M604K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,328,157	E3112D	probably damaging	Het
Abtb2	C	T	2: 103,711,484	T847I	possibly damaging	Het
Acox1	A	T	11: 116,198,347	H48Q	probably benign	Het
Adam9	A	G	8: 24,996,779	I161T	possibly damaging	Het
Ankrd50	A	G	3: 38,457,055	Y388H	probably damaging	Het
Arap1	A	T	7: 101,391,883	K593*	probably null	Het
Bicc1	G	A	10: 70,945,264	T661M	probably damaging	Het
Cela1	A	G	15: 100,682,885		probably null	Het
Celf1	T	A	2: 91,001,081	L85H	probably damaging	Het
Cep120	A	T	18: 53,719,246	M520K	probably benign	Het
Chd1l	C	T	3: 97,594,040	R230H	probably benign	Het
Cyp2c55	A	T	19: 39,007,127	K28*	probably null	Het
D930048N14Rik	A	T	11: 51,654,782	H167L	unknown	Het
Ddx58	T	A	4: 40,208,827	M762L	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dock4	T	A	12: 40,704,338	I442N	probably damaging	Het
Dpp6	T	C	5: 27,451,288		probably null	Het
Dysf	T	C	6: 84,203,326	C1960R	probably damaging	Het
Gm13941	T	C	2: 111,105,979	S2G	unknown	Het
Gm37240	T	C	3: 84,509,941	N157S	possibly damaging	Het
Gp1ba	A	G	11: 70,640,457	I350V	unknown	Het
Gtf3c4	A	G	2: 28,834,649	V357A	probably benign	Het
Hemgn	T	C	4: 46,396,106	I377V	probably benign	Het
Hsd3b3	T	C	3: 98,753,373	D28G	probably benign	Het
Intu	A	T	3: 40,690,703	D508V	probably damaging	Het
Klra6	T	A	6: 130,016,724	I195F	possibly damaging	Het
Lhfp	G	A	3: 53,043,466	V54I	probably benign	Het
Lrpap1	T	C	5: 35,105,579	Y38C	probably damaging	Het
Maats1	A	G	16: 38,335,598	Y88H	possibly damaging	Het
Map1b	T	A	13: 99,425,843	Q2453L	unknown	Het
Map1b	C	A	13: 99,432,308	E1302*	probably null	Het
Map7	C	T	10: 20,246,664	R159C	probably benign	Het
Mov10l1	C	T	15: 89,012,158	T735I	probably benign	Het
Nfasc	C	A	1: 132,634,806	R77L	probably damaging	Het
Nipsnap1	T	C	11: 4,889,969	V230A	probably benign	Het
Olfr1206	C	T	2: 88,865,451	P282L	possibly damaging	Het
Olfr857	T	A	9: 19,713,658	M277K	probably benign	Het
Olfr860	T	A	9: 19,846,208	N137I	possibly damaging	Het
Orm3	T	C	4: 63,356,572	L39P	probably damaging	Het
Pcdhb19	T	A	18: 37,498,799	V549E	probably damaging	Het
Pclo	T	A	5: 14,681,685	S274R		Het
Phactr1	A	G	13: 42,682,702	D2G	possibly damaging	Het
Phtf2	G	A	5: 20,803,192	R164*	probably null	Het
Prkcq	A	G	2: 11,226,905	D13G	probably damaging	Het
Proser1	A	T	3: 53,472,073	N156I	probably benign	Het
Prss51	T	C	14: 64,097,509	I171T	probably damaging	Het
Ptbp2	G	A	3: 119,752,991	P81S	probably damaging	Het
Ptk2b	T	C	14: 66,166,773	D681G	possibly damaging	Het
Slc7a12	A	T	3: 14,499,300	I349F	probably damaging	Het
Sorcs2	G	T	5: 36,077,968	T240K	possibly damaging	Het
Sowahc	C	A	10: 59,222,075	A11E	probably benign	Het
Spag1	A	T	15: 36,216,253	Y526F	probably damaging	Het
Stim1	A	G	7: 102,435,419	H526R	probably benign	Het
Stx1b	T	C	7: 127,814,987	K69R	probably benign	Het
Tal1	T	C	4: 115,063,449	S107P	probably benign	Het
Tas2r130	T	C	6: 131,630,012	I273M	probably damaging	Het
Ttc24	A	T	3: 88,072,988	Y135*	probably null	Het
Ttn	G	A	2: 76,753,512	P22384S	probably damaging	Het
Vmn2r14	T	G	5: 109,216,221	T610P	probably damaging	Het
Vmn2r84	T	A	10: 130,385,800	*850C	probably null	Het
Vwf	T	A	6: 125,565,843	I94N		Het
Zan	A	T	5: 137,424,071	S2762T	unknown	Het
Zbtb20	A	G	16: 43,610,401	Q352R	probably benign	Het
Zfc3h1	T	C	10: 115,423,469	Y1649H	probably benign	Het
Zfp397	A	T	18: 23,956,771	Q111L	probably damaging	Het
Zfp616	T	A	11: 74,084,999	I698N	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
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
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
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'- AGTGTGCAGTCATCAGGTGC -3'
(R):5'- TGAATGAACAGCTGAGTGTGTG -3'

Sequencing Primer
(F):5'- TCTGAACTAGGGCAGGCACTC -3'
(R):5'- GTGATTTTATTGACGGCTGAAAAG -3'

Posted On

2022-02-07