Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Kif2b'

685044

Institutional Source

Beutler Lab

Gene Symbol

Kif2b

Ensembl Gene

ENSMUSG00000046755

Gene Name

kinesin family member 2B

Synonyms

1700063D03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91575315-91577558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91576227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 410 (C410Y)

Ref Sequence

ENSEMBL: ENSMUSP00000058084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061019]

AlphaFold

Q8C0N1

Predicted Effect

probably benign
Transcript: ENSMUST00000061019
AA Change: C410Y

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058084
Gene: ENSMUSG00000046755
AA Change: C410Y

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	151	176	N/A	INTRINSIC
KISc	211	549	2.34e-134	SMART
low complexity region	588	603	N/A	INTRINSIC
coiled coil region	640	664	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,291,926	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,952,630	D985N	probably benign	Het
Ak5	A	T	3: 152,653,454	M207K	probably damaging	Het
Akt1	T	C	12: 112,659,614	I75V	probably benign	Het
Ank	T	A	15: 27,544,327	L58*	probably null	Het
Ap1g1	A	C	8: 109,855,106	T666P	probably benign	Het
Ap3b2	A	T	7: 81,467,444	S615T	probably benign	Het
Ash1l	G	T	3: 88,981,408	R198L	probably benign	Het
Axl	A	T	7: 25,778,678	C199S	probably damaging	Het
C1d	T	C	11: 17,262,787	L44S	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Col4a4	A	G	1: 82,471,311	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,996,192	I223N	probably damaging	Het
Eml1	T	A	12: 108,538,179	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,690,592	T282I	probably damaging	Het
Fmo2	A	T	1: 162,878,078	C397*	probably null	Het
Gbp10	C	A	5: 105,221,981	V262L	probably benign	Het
Gm11639	A	T	11: 105,029,996	D4671V	probably damaging	Het
Gm45871	A	T	18: 90,591,844	H402L	probably damaging	Het
Has1	T	C	17: 17,843,650	S576G	unknown	Het
Hat1	C	T	2: 71,441,303	R407W	probably damaging	Het
Hivep2	G	T	10: 14,132,413	R1585L	probably benign	Het
Ifi211	A	G	1: 173,906,328	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Irf9	T	A	14: 55,607,683	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,582,258	V68I	probably benign	Het
Kif1b	T	G	4: 149,191,255	I1400L	probably damaging	Het
Klk1b16	T	C	7: 44,140,765	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Lama5	A	G	2: 180,196,518	C855R	probably damaging	Het
Mast3	A	G	8: 70,781,260	L947P	probably damaging	Het
Mblac2	C	A	13: 81,711,953	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,225,854	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,217,019	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,714,959	T363I	probably damaging	Het
Nol10	A	G	12: 17,358,133	E120G	probably damaging	Het
Olfml1	T	C	7: 107,590,216	S163P	probably damaging	Het
Olfr1104	T	C	2: 87,021,897	T216A	probably benign	Het
Olfr135	A	T	17: 38,208,664	N140Y	probably benign	Het
Olfr522	T	C	7: 140,162,285	I222V	probably damaging	Het
Olfr576	A	T	7: 102,965,411	I104F	probably damaging	Het
Olfr902	T	A	9: 38,448,875	M1K	probably null	Het
Pde6a	T	A	18: 61,285,989	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,918,259	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,299,453	L1368P		Het
Ppie	T	C	4: 123,130,551	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,788,292	H657R	probably benign	Het
Sarnp	T	A	10: 128,821,973		probably null	Het
Serpinb9c	T	C	13: 33,150,346	T266A	probably damaging	Het
Srgap3	T	A	6: 112,780,893	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882	W717L	probably benign	Het
Tgfbi	A	G	13: 56,623,589	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,770,482	F624Y	probably damaging	Het
Tnni2	A	G	7: 142,444,276	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,505,456	S316P	probably benign	Het
Tshr	C	A	12: 91,537,774	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,593,259	A317E	probably damaging	Het
Usp24	T	C	4: 106,418,215	V2229A	possibly damaging	Het
Usp32	G	A	11: 85,053,951	R304C	probably damaging	Het
Usp40	C	T	1: 88,007,341	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,747,127	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,858,076	K676M	probably benign	Het
Vnn1	A	G	10: 23,899,451	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,325,241	L698P	possibly damaging	Het

Other mutations in Kif2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Kif2b	APN	11	91576380	missense	probably damaging	1.00
IGL01459:Kif2b	APN	11	91577023	missense	possibly damaging	0.65
IGL01468:Kif2b	APN	11	91576365	missense	probably damaging	1.00
IGL02897:Kif2b	APN	11	91576219	missense	probably damaging	1.00
R0076:Kif2b	UTSW	11	91575909	missense	probably damaging	1.00
R0488:Kif2b	UTSW	11	91576972	missense	probably benign	0.00
R0524:Kif2b	UTSW	11	91575724	missense	probably benign	0.00
R0549:Kif2b	UTSW	11	91576584	missense	probably damaging	1.00
R0893:Kif2b	UTSW	11	91575594	missense	probably benign	0.16
R1677:Kif2b	UTSW	11	91575972	missense	probably damaging	1.00
R2025:Kif2b	UTSW	11	91577346	missense	probably damaging	0.99
R2185:Kif2b	UTSW	11	91576971	frame shift	probably null
R2290:Kif2b	UTSW	11	91575696	missense	probably benign	0.00
R4697:Kif2b	UTSW	11	91576846	missense	probably benign	0.01
R4785:Kif2b	UTSW	11	91576428	missense	probably benign	0.07
R5429:Kif2b	UTSW	11	91577229	missense	probably benign	0.03
R5555:Kif2b	UTSW	11	91575460	missense	probably benign	0.00
R5652:Kif2b	UTSW	11	91575830	missense	possibly damaging	0.86
R5765:Kif2b	UTSW	11	91577242	missense	probably benign	0.28
R6101:Kif2b	UTSW	11	91575988	missense	probably benign	0.00
R6105:Kif2b	UTSW	11	91575988	missense	probably benign	0.00
R6450:Kif2b	UTSW	11	91576366	missense	probably damaging	0.99
R6862:Kif2b	UTSW	11	91575915	missense	probably damaging	1.00
R7097:Kif2b	UTSW	11	91576824	missense	probably benign	0.00
R7189:Kif2b	UTSW	11	91577137	missense	probably benign	0.01
R7507:Kif2b	UTSW	11	91577443	missense	probably benign
R7742:Kif2b	UTSW	11	91576585	missense	possibly damaging	0.85
R7818:Kif2b	UTSW	11	91576126	missense	probably damaging	1.00
R7820:Kif2b	UTSW	11	91577274	missense	probably benign	0.01
R7946:Kif2b	UTSW	11	91575745	missense	probably benign	0.00
R8378:Kif2b	UTSW	11	91576375	missense	possibly damaging	0.95
R8442:Kif2b	UTSW	11	91576314	missense	possibly damaging	0.54
R8925:Kif2b	UTSW	11	91577197	missense	probably benign	0.00
R8927:Kif2b	UTSW	11	91577197	missense	probably benign	0.00
R8969:Kif2b	UTSW	11	91577193	missense	probably benign	0.00
R9028:Kif2b	UTSW	11	91577185	missense	probably benign
R9039:Kif2b	UTSW	11	91576305	missense	possibly damaging	0.91
R9063:Kif2b	UTSW	11	91575828	missense	probably damaging	1.00
R9114:Kif2b	UTSW	11	91575712	missense	possibly damaging	0.77
R9279:Kif2b	UTSW	11	91577149	missense	probably benign	0.01
Z1176:Kif2b	UTSW	11	91576264	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACTCTTTCAGGGCTAGCAGAC -3'
(R):5'- TGGAACTCAAAGTCTATGGGACC -3'

Sequencing Primer
(F):5'- CAGGGCTAGCAGACTTTTATTGATC -3'
(R):5'- ATCAGCAAGTCCAAGTGG -3'

Posted On

2021-10-11