Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:Kif28'

424765

Institutional Source

Beutler Lab

Gene Symbol

Kif28

Ensembl Gene

ENSMUSG00000087236

Gene Name

kinesin family member 28

Synonyms

LOC383592, Gm1305

MMRRC Submission

042957-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.500) question?

Stock #

R5382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179695297-179745271 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 179700282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 768 (G768D)

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

possibly damaging
Transcript: ENSMUST00000131716
AA Change: G768D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: G768D

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 damaging
Transcript: ENSMUST00000211943
AA Change: G700D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221136
AA Change: G768D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000223392

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	G	T	6: 149,326,460	E335*	probably null	Het
Acp7	G	A	7: 28,615,419	P250S	possibly damaging	Het
Actn2	T	A	13: 12,308,951	M133L	probably benign	Het
AI314180	A	T	4: 58,850,934	M413K	probably benign	Het
Arhgap32	A	T	9: 32,152,010	K105M	probably damaging	Het
BC034090	A	G	1: 155,225,603	V305A	probably benign	Het
Brd1	G	A	15: 88,729,564	T376M	probably damaging	Het
Cbl	C	T	9: 44,159,021	A505T	probably benign	Het
Cga	G	T	4: 34,904,048	M14I	probably benign	Het
Cluh	T	C	11: 74,665,109		probably benign	Het
Col14a1	A	T	15: 55,362,436	D165V	unknown	Het
Cp	T	C	3: 19,978,925	W639R	probably damaging	Het
Cyp7b1	T	A	3: 18,097,221	D276V	possibly damaging	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Erc1	T	A	6: 119,761,272	M509L	probably benign	Het
Evi5l	A	G	8: 4,178,653		probably benign	Het
Exoc6	T	C	19: 37,598,679		probably null	Het
Gm38706	C	T	6: 130,483,781		noncoding transcript	Het
Gpr183	T	C	14: 121,954,921	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952	D225E	probably benign	Het
Grb14	T	A	2: 64,914,734	K93N	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Krt79	A	T	15: 101,931,440	D373E	probably benign	Het
Mro	G	A	18: 73,876,822	S187N	probably benign	Het
Ms4a14	G	T	19: 11,303,057	D712E	possibly damaging	Het
Narfl	A	G	17: 25,776,920		probably benign	Het
Ndufaf1	T	C	2: 119,660,412	T56A	possibly damaging	Het
Nell2	A	T	15: 95,229,210	D761E	probably damaging	Het
Numb	A	G	12: 83,808,205	F116L	probably damaging	Het
Olfr1016	T	C	2: 85,800,148	N41D	probably damaging	Het
Olfr1065	A	G	2: 86,445,316	L222P	probably damaging	Het
Olfr1219	A	G	2: 89,074,735	Y119H	probably damaging	Het
Olfr235	A	T	19: 12,268,409	M60L	possibly damaging	Het
Olfr410	T	A	11: 74,334,980	M84L	probably benign	Het
Olfr798	T	A	10: 129,626,007	D18V	probably damaging	Het
Otog	A	C	7: 46,249,004	N182T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Padi6	A	T	4: 140,731,210	V457E	probably damaging	Het
Pex16	G	A	2: 92,377,530	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,135,219		probably benign	Het
Phf20	G	A	2: 156,267,497	E255K	probably damaging	Het
Pim1	A	G	17: 29,491,483		probably benign	Het
Prr23a2	T	A	9: 98,857,176	Y196N	probably damaging	Het
Prune2	A	T	19: 17,003,659	N60I	probably damaging	Het
Ptprb	T	A	10: 116,353,871	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,690,715	Y512C	possibly damaging	Het
Rft1	T	C	14: 30,666,782	V221A	probably benign	Het
Tacr2	T	C	10: 62,261,497	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,075,865	I25T	probably benign	Het
Th	A	G	7: 142,895,440	F191S	probably damaging	Het
Trim3	C	A	7: 105,618,347	R275L	probably benign	Het
Trpm3	A	G	19: 22,885,341		probably null	Het
Wars	A	T	12: 108,882,780	D80E	probably benign	Het
Wdr90	T	A	17: 25,845,598	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,634,869	I1182N	possibly 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
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'- CCAAGTCATCTGGAGGGTCTTG -3'
(R):5'- TTAGGACGCTTTCACTCCTG -3'

Sequencing Primer
(F):5'- TCTCTACTTGGTGGAGAAAATAGTC -3'
(R):5'- CCTGTGACATTCGAGTGCTAACTAG -3'

Posted On

2016-08-04