Mutagenetix > Incidental Mutation

Incidental Mutation 'R8781:Kif28'

670233

Institutional Source

Beutler Lab

Gene Symbol

Kif28

Ensembl Gene

ENSMUSG00000087236

Gene Name

kinesin family member 28

Synonyms

LOC383592, Gm1305

MMRRC Submission

068605-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R8781 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179522862-179572836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 179525481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 937 (T937K)

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

SMART Domains

Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: T933K

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: T783K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000221136
AA Change: T937K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000223392
AA Change: T168K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	G	19: 3,767,538 (GRCm39)	D375G	possibly damaging	Het
Abi3bp	C	T	16: 56,426,512 (GRCm39)	T509I	probably damaging	Het
Atp13a2	T	A	4: 140,723,691 (GRCm39)	C257S	probably benign	Het
Ccdc183	T	A	2: 25,502,208 (GRCm39)		probably benign	Het
Cd109	C	T	9: 78,543,929 (GRCm39)	P158S	probably damaging	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cog5	T	A	12: 31,883,249 (GRCm39)	W393R	probably damaging	Het
Cyth1	C	T	11: 118,073,069 (GRCm39)	R277Q	probably damaging	Het
Ddx54	G	T	5: 120,751,217 (GRCm39)	R6L	probably benign	Het
Dnah8	T	A	17: 30,944,078 (GRCm39)	I1765N	probably damaging	Het
Erp27	G	A	6: 136,886,458 (GRCm39)	Q192*	probably null	Het
Fam81a	T	A	9: 70,032,381 (GRCm39)	H37L	probably damaging	Het
Fbn2	A	G	18: 58,194,719 (GRCm39)	S1481P	possibly damaging	Het
Fbp1	T	G	13: 63,016,831 (GRCm39)	I224L	probably benign	Het
Fhit	A	G	14: 10,421,503 (GRCm38)	V32A	probably damaging	Het
Gapvd1	T	A	2: 34,610,698 (GRCm39)	H495L	probably benign	Het
Gas2l3	T	C	10: 89,266,841 (GRCm39)	D33G	probably damaging	Het
Heatr5b	A	T	17: 79,102,738 (GRCm39)	D1213E	probably benign	Het
Hsf2bp	C	G	17: 32,252,241 (GRCm39)	E65Q	possibly damaging	Het
Klf6	T	A	13: 5,915,071 (GRCm39)	V170D	probably benign	Het
Kri1	A	T	9: 21,191,748 (GRCm39)	S283T		Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lct	A	G	1: 128,215,261 (GRCm39)	Y1772H	probably damaging	Het
Lrrc37	T	A	11: 103,508,958 (GRCm39)	E1003D	unknown	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Or2b2b	A	G	13: 21,859,013 (GRCm39)	S34P	probably damaging	Het
Or52j3	T	A	7: 102,836,082 (GRCm39)	D91E	probably benign	Het
Or8c14-ps1	T	G	9: 38,101,385 (GRCm39)	D121E	probably damaging	Het
Parg	T	A	14: 31,936,400 (GRCm39)	D518E	probably benign	Het
Pcx	G	A	19: 4,670,980 (GRCm39)	A1095T	probably damaging	Het
Pde1b	G	A	15: 103,433,727 (GRCm39)	V342M	probably damaging	Het
Pik3r2	C	T	8: 71,222,046 (GRCm39)	G579D	possibly damaging	Het
Pknox1	G	A	17: 31,821,837 (GRCm39)		probably benign	Het
Pla2g3	C	A	11: 3,438,530 (GRCm39)	T60K	probably benign	Het
Ppfia3	C	T	7: 44,997,953 (GRCm39)	E725K	possibly damaging	Het
Ppl	C	T	16: 4,915,800 (GRCm39)	V588I	possibly damaging	Het
Sardh	T	A	2: 27,086,715 (GRCm39)	E815V	possibly damaging	Het
Scn7a	T	C	2: 66,567,775 (GRCm39)	E273G	probably benign	Het
Slc7a8	A	T	14: 54,996,996 (GRCm39)		probably benign	Het
Smg8	G	A	11: 86,971,147 (GRCm39)	P875S	possibly damaging	Het
Sncaip	T	C	18: 53,039,614 (GRCm39)	S603P	probably benign	Het
Speg	G	A	1: 75,383,665 (GRCm39)	G1218S	probably damaging	Het
Stk31	A	T	6: 49,383,709 (GRCm39)	D92V	probably damaging	Het
Suco	A	G	1: 161,645,951 (GRCm39)	V1250A	probably damaging	Het
Tas2r138	A	G	6: 40,589,850 (GRCm39)	V132A	probably benign	Het
Tcp1	T	C	17: 13,143,263 (GRCm39)	I524T	probably damaging	Het
Tenm3	CTGCTGTGAAATG	C	8: 48,795,484 (GRCm39)		probably null	Het
Tln2	C	A	9: 67,163,233 (GRCm39)	V1105L	probably damaging	Het
Tmem19	T	C	10: 115,195,563 (GRCm39)		probably benign	Het
Tmprss4	T	C	9: 45,087,740 (GRCm39)	Y283C	possibly damaging	Het
Trim29	T	A	9: 43,222,615 (GRCm39)	V148D	probably benign	Het
Trip10	C	T	17: 57,562,313 (GRCm39)	A277V	probably benign	Het
Usp12	C	A	5: 146,700,172 (GRCm39)	R61L	probably benign	Het
Vmn1r58	T	G	7: 5,413,482 (GRCm39)	L249F	probably benign	Het
Vmn2r31	C	T	7: 7,387,400 (GRCm39)	V724I	possibly damaging	Het
Vmn2r66	C	T	7: 84,644,355 (GRCm39)	W685*	probably null	Het
Vmn2r8	A	G	5: 108,945,597 (GRCm39)	I670T	possibly damaging	Het
Vmn2r91	T	A	17: 18,305,323 (GRCm39)	M2K	possibly damaging	Het
Wdr12	A	G	1: 60,126,300 (GRCm39)	W172R	probably damaging	Het
Yipf5	A	T	18: 40,340,752 (GRCm39)	V200E	possibly damaging	Het
Zfp608	T	C	18: 55,031,801 (GRCm39)	K713R	probably damaging	Het
Zfp768	A	G	7: 126,942,476 (GRCm39)	S554P	probably damaging	Het

Other mutations in Kif28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Kif28	APN	1	179,530,081 (GRCm39)	missense	probably damaging	1.00
IGL00581:Kif28	APN	1	179,567,522 (GRCm39)	missense	probably benign	0.14
R0348:Kif28	UTSW	1	179,558,818 (GRCm39)	missense	probably damaging	1.00
R0388:Kif28	UTSW	1	179,567,654 (GRCm39)	missense	possibly damaging	0.71
R0412:Kif28	UTSW	1	179,530,091 (GRCm39)	missense	probably benign	0.01
R0788:Kif28	UTSW	1	179,532,788 (GRCm39)	unclassified	probably benign
R0960:Kif28	UTSW	1	179,523,370 (GRCm39)	nonsense	probably null
R1365:Kif28	UTSW	1	179,567,552 (GRCm39)	nonsense	probably null
R1420:Kif28	UTSW	1	179,529,962 (GRCm39)	missense	probably damaging	1.00
R1442:Kif28	UTSW	1	179,532,697 (GRCm39)	missense	possibly damaging	0.73
R1507:Kif28	UTSW	1	179,563,571 (GRCm39)	missense	probably damaging	1.00
R1818:Kif28	UTSW	1	179,533,319 (GRCm39)	missense	possibly damaging	0.66
R1819:Kif28	UTSW	1	179,533,319 (GRCm39)	missense	possibly damaging	0.66
R1903:Kif28	UTSW	1	179,530,088 (GRCm39)	missense	possibly damaging	0.63
R2221:Kif28	UTSW	1	179,560,676 (GRCm39)	missense	possibly damaging	0.80
R2358:Kif28	UTSW	1	179,537,024 (GRCm39)	missense	probably damaging	1.00
R4916:Kif28	UTSW	1	179,530,085 (GRCm39)	missense	probably benign	0.09
R4943:Kif28	UTSW	1	179,541,516 (GRCm39)	missense	probably benign	0.02
R4967:Kif28	UTSW	1	179,536,007 (GRCm39)	missense	probably damaging	1.00
R4974:Kif28	UTSW	1	179,526,209 (GRCm39)	missense	probably damaging	0.98
R5152:Kif28	UTSW	1	179,530,103 (GRCm39)	missense	probably damaging	1.00
R5382:Kif28	UTSW	1	179,527,847 (GRCm39)	missense	probably damaging	1.00
R5649:Kif28	UTSW	1	179,525,336 (GRCm39)	splice site	probably null
R5999:Kif28	UTSW	1	179,523,355 (GRCm39)	missense	probably damaging	1.00
R6017:Kif28	UTSW	1	179,527,018 (GRCm39)	missense	probably benign	0.24
R6180:Kif28	UTSW	1	179,525,337 (GRCm39)	splice site	probably null
R6875:Kif28	UTSW	1	179,563,559 (GRCm39)	missense	probably damaging	0.98
R7400:Kif28	UTSW	1	179,527,839 (GRCm39)	missense	probably damaging	1.00
R7402:Kif28	UTSW	1	179,567,644 (GRCm39)	missense	probably benign	0.00
R7530:Kif28	UTSW	1	179,536,045 (GRCm39)	missense	probably benign	0.31
R7589:Kif28	UTSW	1	179,558,965 (GRCm39)	missense	probably benign	0.01
R7648:Kif28	UTSW	1	179,536,989 (GRCm39)	missense	possibly damaging	0.89
R7815:Kif28	UTSW	1	179,563,548 (GRCm39)	missense	probably damaging	1.00
R8030:Kif28	UTSW	1	179,526,629 (GRCm39)	missense	probably benign	0.04
R8050:Kif28	UTSW	1	179,537,014 (GRCm39)	missense	probably benign	0.00
R8088:Kif28	UTSW	1	179,527,919 (GRCm39)	missense	probably damaging	1.00
R8947:Kif28	UTSW	1	179,544,320 (GRCm39)	missense	possibly damaging	0.94
R9011:Kif28	UTSW	1	179,529,984 (GRCm39)	missense	possibly damaging	0.89
R9161:Kif28	UTSW	1	179,526,244 (GRCm39)	missense	probably benign	0.29
R9164:Kif28	UTSW	1	179,533,333 (GRCm39)	missense	probably damaging	1.00
R9358:Kif28	UTSW	1	179,563,695 (GRCm39)	missense	probably benign	0.09
Z1176:Kif28	UTSW	1	179,560,699 (GRCm39)	missense	probably benign	0.05
Z1177:Kif28	UTSW	1	179,555,784 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- CCGTCACTGTGCTGTCAAATC -3'
(R):5'- TGAGTAGGTCCAAAGAGATATGCTG -3'

Sequencing Primer
(F):5'- CACTGTGCTGTCAAATCTTTAGG -3'
(R):5'- TATTATCTCAGCACTCAGGAGGCAG -3'

Posted On

2021-04-30