Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00834:Kif2b'

11624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif2b

Ensembl Gene

ENSMUSG00000046755

Gene Name

kinesin family member 2B

Synonyms

1700063D03Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

IGL00834

Quality Score

Status

Chromosome

Chromosomal Location

91575315-91577558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91576380 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 359 (I359N)

Ref Sequence

ENSEMBL: ENSMUSP00000058084 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061019
AA Change: I359N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058084
Gene: ENSMUSG00000046755
AA Change: I359N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	G	13: 4,512,665		probably null	Het
Alg5	T	C	3: 54,744,719		probably benign	Het
App	A	T	16: 84,965,711	F675I	probably damaging	Het
Atad1	C	A	19: 32,698,568	C152F	probably benign	Het
Atp2a3	A	C	11: 72,982,787	I829L	probably damaging	Het
B3galt1	C	T	2: 68,118,706	S255L	probably damaging	Het
Bptf	A	G	11: 107,073,928	V1417A	possibly damaging	Het
Cast	T	A	13: 74,736,974	T219S	probably damaging	Het
Cep95	A	T	11: 106,818,217	I705F	probably damaging	Het
Cnot3	C	T	7: 3,650,855	A2V	probably damaging	Het
Col1a1	A	G	11: 94,949,378	D1084G	unknown	Het
Col5a3	G	A	9: 20,786,389	Q873*	probably null	Het
Cubn	C	T	2: 13,381,927	G1509D	probably damaging	Het
Defb10	T	A	8: 21,861,936	C66S	possibly damaging	Het
Dennd4b	T	C	3: 90,279,686		probably null	Het
Dido1	G	A	2: 180,689,526	T43M	possibly damaging	Het
Hmcn1	C	T	1: 150,630,340	V3812I	probably benign	Het
Islr2	T	C	9: 58,199,786	T64A	probably benign	Het
Kit	A	C	5: 75,645,959	N704T	probably damaging	Het
Ksr1	A	G	11: 79,027,517	F604L	probably damaging	Het
Lrp5	A	T	19: 3,649,404	F294I	probably benign	Het
Lrrn1	A	G	6: 107,568,308	T356A	probably benign	Het
Mrps17	G	A	5: 129,716,765	V8I	probably benign	Het
Nop56	T	A	2: 130,275,995	H130Q	possibly damaging	Het
Plg	T	A	17: 12,411,493	L639Q	probably damaging	Het
Ppcdc	A	G	9: 57,415,140	F159L	probably benign	Het
Ppp1ca	A	G	19: 4,194,520	T193A	probably benign	Het
Prpf39	A	G	12: 65,043,263	D117G	probably damaging	Het
Ranbp2	C	A	10: 58,453,323	T51K	possibly damaging	Het
Sytl2	A	G	7: 90,382,636		probably benign	Het
Tenm2	T	A	11: 36,024,258	I2150F	probably damaging	Het
Wdr11	T	G	7: 129,593,093		probably null	Het

Other mutations in Kif2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
Z1176:Kif2b	UTSW	11	91576264	nonsense	probably null

Posted On

2012-12-06