Mutagenetix > Incidental Mutation

Incidental Mutation 'R9279:Kif2b'

703511

Institutional Source

Beutler Lab

Gene Symbol

Kif2b

Ensembl Gene

ENSMUSG00000046755

Gene Name

kinesin family member 2B

Synonyms

1700063D03Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R9279 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91575315-91577558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91577149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 103 (S103T)

Ref Sequence

ENSEMBL: ENSMUSP00000058084 (fasta)

Gene Model

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

AlphaFold

Q8C0N1

Predicted Effect

probably benign
Transcript: ENSMUST00000061019
AA Change: S103T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000058084
Gene: ENSMUSG00000046755
AA Change: S103T

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr7a5	A	T	4: 139,316,768	H225L	possibly damaging	Het
Arhgap32	C	A	9: 32,257,359	H879Q	probably benign	Het
Axin2	A	G	11: 108,942,302	I438V	possibly damaging	Het
Btbd18	T	A	2: 84,661,576	C34S	probably damaging	Het
Carns1	G	T	19: 4,166,257	T642N	possibly damaging	Het
Casp8	T	C	1: 58,844,383	I283T	probably benign	Het
Ccnk	C	A	12: 108,195,687	Q284K	unknown	Het
Ceacam12	T	A	7: 18,067,252	L52H	probably damaging	Het
Cit	G	A	5: 115,927,911	D540N	probably damaging	Het
Cntnap1	T	C	11: 101,181,295	V458A	probably damaging	Het
Col6a5	T	A	9: 105,881,777	I2077F	probably damaging	Het
Dnah2	T	C	11: 69,518,278	K425E	probably benign	Het
E330021D16Rik	A	G	6: 136,400,980	V284A	probably damaging	Het
Eya2	A	G	2: 165,687,711	S125G	probably benign	Het
Gabrg1	T	G	5: 70,777,256	M260L	probably benign	Het
Greb1	T	C	12: 16,682,152	S1603G	probably damaging	Het
Isx	A	G	8: 74,873,806	T56A	probably benign	Het
Krtap26-1	T	C	16: 88,647,454	H93R	probably benign	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mdm4	G	A	1: 132,996,678	T236M	probably damaging	Het
Mgat5	T	A	1: 127,397,611	L405Q	probably damaging	Het
Msantd1	A	G	5: 34,923,541	I272V	probably benign	Het
Ocstamp	A	G	2: 165,395,848	*499Q	probably null	Het
Olfr1186	A	G	2: 88,525,867	M95V	probably benign	Het
Olfr136	G	A	17: 38,335,523	R122Q	probably damaging	Het
Olfr1448	A	T	19: 12,919,945	Y121*	probably null	Het
Olfr745	A	G	14: 50,643,036	K252E	possibly damaging	Het
Pkdrej	C	T	15: 85,816,633	G1701S	probably damaging	Het
Pkhd1l1	A	G	15: 44,520,825	T1204A	possibly damaging	Het
Ppp1r9a	A	G	6: 5,113,757	T754A	probably damaging	Het
Prss8	C	A	7: 127,927,910	Q55H	probably damaging	Het
Psg20	G	T	7: 18,682,745	R149S	probably benign	Het
Ptprz1	T	G	6: 23,002,445	N1511K	probably benign	Het
Rbbp8nl	C	T	2: 180,279,101		probably null	Het
Sgk2	A	G	2: 163,013,055	D362G	probably benign	Het
Sim1	T	C	10: 50,983,700	Y553H	probably damaging	Het
Sipa1l2	T	C	8: 125,482,157	D504G	probably damaging	Het
Smad7	T	C	18: 75,369,476	V174A	possibly damaging	Het
Smarcc1	T	A	9: 110,167,724	N303K	possibly damaging	Het
Snai3	T	C	8: 122,456,299	H169R	possibly damaging	Het
Tecpr2	T	A	12: 110,929,071	S331T	possibly damaging	Het
Tenm2	G	A	11: 36,068,476	T1082I	probably benign	Het
Tle4	A	T	19: 14,452,526	I627N	probably damaging	Het
Tnxb	A	T	17: 34,679,114	N912I	possibly damaging	Het
Vmn1r238	A	T	18: 3,122,994	V140E	probably damaging	Het
Vmn1r65	G	A	7: 6,008,989	T82I	probably benign	Het
Vps13b	A	G	15: 35,572,144	K969R	probably damaging	Het
Zfp943	A	G	17: 21,990,851	R35G	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
R9002:Kif2b	UTSW	11	91576227	missense	probably benign	0.30
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
Z1176:Kif2b	UTSW	11	91576264	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTAGCTCGGATCTCTAGCTG -3'
(R):5'- AACGGATTCACCTGGCTGTG -3'

Sequencing Primer
(F):5'- TCGGATCTCTAGCTGCAGTCG -3'
(R):5'- GATTCACCTGGCTGTGGTCAC -3'

Posted On

2022-03-25