Mutagenetix > Incidental Mutation

Incidental Mutation 'R2867:Kif20b'

266411

Institutional Source

Beutler Lab

Gene Symbol

Kif20b

Ensembl Gene

ENSMUSG00000024795

Gene Name

kinesin family member 20B

Synonyms

C330014J10Rik, magoo, Kif20b, N-6 kinesin, Mphosph1, 33cex

MMRRC Submission

040456-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R2867 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34899761-34953145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34917528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 631 (E631G)

Ref Sequence

ENSEMBL: ENSMUSP00000153034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000225408]

AlphaFold

Q80WE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000087341
AA Change: E631G

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

SMART Domains

Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: E631G

Domain	Start	End	E-Value	Type
Blast:KISc	2	46	5e-15	BLAST
KISc	56	483	1.19e-103	SMART
low complexity region	521	551	N/A	INTRINSIC
coiled coil region	565	602	N/A	INTRINSIC
coiled coil region	705	746	N/A	INTRINSIC
coiled coil region	823	947	N/A	INTRINSIC
coiled coil region	1020	1325	N/A	INTRINSIC
coiled coil region	1348	1510	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223907
AA Change: E631G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224728

Predicted Effect

probably benign
Transcript: ENSMUST00000225408

Meta Mutation Damage Score

0.1255

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (30/31)

MGI Phenotype

PHENOTYPE: Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	T	C	1: 177,595,378 (GRCm39)		probably null	Het
Arid3c	T	C	4: 41,725,958 (GRCm39)	D215G	probably damaging	Het
Birc2	A	C	9: 7,834,478 (GRCm39)	M1R	probably null	Het
Caprin2	G	A	6: 148,747,738 (GRCm39)		silent	Het
Cog4	C	A	8: 111,593,291 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,659,705 (GRCm39)	K647E	probably benign	Het
Ctnna2	T	C	6: 77,091,905 (GRCm39)		probably benign	Het
Cyp7a1	T	C	4: 6,272,493 (GRCm39)	E240G	probably damaging	Het
Dnaaf11	A	T	15: 66,310,257 (GRCm39)	L337*	probably null	Het
Efhc2	A	T	X: 17,027,484 (GRCm39)		probably benign	Homo
Epha6	T	C	16: 59,780,659 (GRCm39)		probably null	Het
Evc	T	A	5: 37,473,619 (GRCm39)		probably benign	Het
Fbf1	A	G	11: 116,052,274 (GRCm39)		probably benign	Het
Grin2b	A	G	6: 135,710,637 (GRCm39)	F970L	probably damaging	Het
Gtf3c4	A	G	2: 28,729,916 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,423,275 (GRCm39)	N682K	probably benign	Het
Lctl	T	C	9: 64,045,150 (GRCm39)	S550P	probably benign	Het
Mapk10	C	T	5: 103,186,548 (GRCm39)	D25N	probably benign	Het
Mgst2	A	G	3: 51,571,954 (GRCm39)		silent	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
N4bp1	T	C	8: 87,588,033 (GRCm39)	N302D	probably benign	Het
Pcdh7	A	T	5: 57,879,236 (GRCm39)	K930N	probably damaging	Het
Pramel16	T	A	4: 143,675,456 (GRCm39)	I457L	probably benign	Het
Proca1	A	T	11: 78,095,806 (GRCm39)	N146I	probably damaging	Het
RP23-211L5.9	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,776,235 (GRCm39)	W1101R	probably damaging	Het
Slc35d3	T	C	10: 19,725,209 (GRCm39)	T216A	probably benign	Het
Terb1	C	T	8: 105,174,485 (GRCm39)		probably benign	Het
Thnsl2	C	A	6: 71,108,945 (GRCm39)	D289Y	probably damaging	Het
Tigd4	A	G	3: 84,501,259 (GRCm39)	N59D	possibly damaging	Het
Togaram2	T	C	17: 72,016,592 (GRCm39)	S649P	probably benign	Het
Tradd	G	T	8: 105,986,145 (GRCm39)	F182L	probably benign	Het
Trav17	A	T	14: 54,044,383 (GRCm39)	Y50F	probably benign	Het
Usp37	A	T	1: 74,489,691 (GRCm39)	D808E	probably damaging	Het
Usp42	G	A	5: 143,701,219 (GRCm39)	P935S	possibly damaging	Het
Vmn2r23	A	G	6: 123,690,123 (GRCm39)	D333G	possibly damaging	Het
Zfpm2	C	T	15: 40,962,785 (GRCm39)	A149V	probably benign	Het

Other mutations in Kif20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Kif20b	APN	19	34,925,060 (GRCm39)	missense	possibly damaging	0.77
IGL01021:Kif20b	APN	19	34,915,660 (GRCm39)	missense	possibly damaging	0.89
IGL01590:Kif20b	APN	19	34,932,126 (GRCm39)	missense	possibly damaging	0.87
IGL01691:Kif20b	APN	19	34,913,143 (GRCm39)	splice site	probably benign
IGL01730:Kif20b	APN	19	34,927,923 (GRCm39)	nonsense	probably null
IGL02078:Kif20b	APN	19	34,913,044 (GRCm39)	missense	probably damaging	1.00
IGL02174:Kif20b	APN	19	34,911,858 (GRCm39)	splice site	probably benign
IGL02536:Kif20b	APN	19	34,951,959 (GRCm39)	missense	probably benign	0.42
IGL03029:Kif20b	APN	19	34,928,313 (GRCm39)	missense	probably benign
IGL03186:Kif20b	APN	19	34,912,344 (GRCm39)	missense	probably benign	0.45
IGL03205:Kif20b	APN	19	34,936,863 (GRCm39)	missense	probably damaging	1.00
IGL03493:Kif20b	APN	19	34,936,950 (GRCm39)	nonsense	probably null
R0319:Kif20b	UTSW	19	34,925,132 (GRCm39)	splice site	probably benign
R1069:Kif20b	UTSW	19	34,928,251 (GRCm39)	missense	probably damaging	1.00
R1137:Kif20b	UTSW	19	34,914,486 (GRCm39)	critical splice donor site	probably null
R1255:Kif20b	UTSW	19	34,927,506 (GRCm39)	missense	probably benign	0.08
R1352:Kif20b	UTSW	19	34,902,035 (GRCm39)	missense	probably benign
R1466:Kif20b	UTSW	19	34,927,999 (GRCm39)	missense	probably benign	0.00
R1466:Kif20b	UTSW	19	34,927,999 (GRCm39)	missense	probably benign	0.00
R1473:Kif20b	UTSW	19	34,951,896 (GRCm39)	missense	possibly damaging	0.93
R1545:Kif20b	UTSW	19	34,906,318 (GRCm39)	missense	probably damaging	1.00
R1647:Kif20b	UTSW	19	34,914,190 (GRCm39)	missense	possibly damaging	0.65
R1648:Kif20b	UTSW	19	34,914,190 (GRCm39)	missense	possibly damaging	0.65
R1752:Kif20b	UTSW	19	34,915,736 (GRCm39)	missense	probably benign	0.13
R1835:Kif20b	UTSW	19	34,933,438 (GRCm39)	missense	probably damaging	1.00
R1889:Kif20b	UTSW	19	34,918,608 (GRCm39)	unclassified	probably benign
R1937:Kif20b	UTSW	19	34,930,278 (GRCm39)	missense	possibly damaging	0.73
R2112:Kif20b	UTSW	19	34,909,132 (GRCm39)	missense	probably benign	0.04
R2315:Kif20b	UTSW	19	34,908,999 (GRCm39)	missense	probably damaging	1.00
R2385:Kif20b	UTSW	19	34,936,819 (GRCm39)	missense	probably damaging	0.98
R2867:Kif20b	UTSW	19	34,917,528 (GRCm39)	missense	probably damaging	1.00
R3086:Kif20b	UTSW	19	34,907,115 (GRCm39)	missense	probably damaging	1.00
R3116:Kif20b	UTSW	19	34,947,480 (GRCm39)	missense	probably benign	0.38
R3407:Kif20b	UTSW	19	34,927,900 (GRCm39)	missense	probably damaging	1.00
R3834:Kif20b	UTSW	19	34,912,428 (GRCm39)	missense	probably damaging	1.00
R3882:Kif20b	UTSW	19	34,927,480 (GRCm39)	missense	probably damaging	1.00
R4698:Kif20b	UTSW	19	34,928,944 (GRCm39)	missense	probably damaging	1.00
R4721:Kif20b	UTSW	19	34,915,773 (GRCm39)	missense	probably benign	0.41
R4883:Kif20b	UTSW	19	34,943,522 (GRCm39)	missense	probably benign	0.00
R4901:Kif20b	UTSW	19	34,911,836 (GRCm39)	missense	probably benign	0.00
R4923:Kif20b	UTSW	19	34,918,611 (GRCm39)	critical splice acceptor site	probably null
R5538:Kif20b	UTSW	19	34,930,364 (GRCm39)	nonsense	probably null
R5540:Kif20b	UTSW	19	34,915,860 (GRCm39)	missense	probably benign	0.01
R5558:Kif20b	UTSW	19	34,928,949 (GRCm39)	missense	probably damaging	1.00
R5580:Kif20b	UTSW	19	34,927,128 (GRCm39)	splice site	probably null
R5934:Kif20b	UTSW	19	34,918,721 (GRCm39)	missense	probably benign	0.02
R6019:Kif20b	UTSW	19	34,927,864 (GRCm39)	missense	probably benign	0.00
R6464:Kif20b	UTSW	19	34,911,841 (GRCm39)	missense	probably benign
R6613:Kif20b	UTSW	19	34,914,384 (GRCm39)	nonsense	probably null
R6745:Kif20b	UTSW	19	34,906,276 (GRCm39)	missense	possibly damaging	0.94
R7097:Kif20b	UTSW	19	34,951,892 (GRCm39)	missense	probably damaging	0.98
R7237:Kif20b	UTSW	19	34,928,005 (GRCm39)	missense	probably damaging	1.00
R7260:Kif20b	UTSW	19	34,927,610 (GRCm39)	missense	probably damaging	1.00
R7373:Kif20b	UTSW	19	34,913,071 (GRCm39)	missense	probably damaging	1.00
R7418:Kif20b	UTSW	19	34,907,087 (GRCm39)	missense	probably damaging	0.99
R7814:Kif20b	UTSW	19	34,928,355 (GRCm39)	missense	possibly damaging	0.63
R7861:Kif20b	UTSW	19	34,917,322 (GRCm39)	missense	probably damaging	1.00
R8017:Kif20b	UTSW	19	34,917,279 (GRCm39)	missense	probably damaging	1.00
R8696:Kif20b	UTSW	19	34,914,752 (GRCm39)	missense	probably benign	0.02
R8724:Kif20b	UTSW	19	34,916,146 (GRCm39)	unclassified	probably benign
R8849:Kif20b	UTSW	19	34,915,716 (GRCm39)	nonsense	probably null
R8947:Kif20b	UTSW	19	34,918,629 (GRCm39)	missense	possibly damaging	0.46
R8998:Kif20b	UTSW	19	34,914,253 (GRCm39)	splice site	probably benign
R9017:Kif20b	UTSW	19	34,927,203 (GRCm39)	missense	probably benign	0.00
R9245:Kif20b	UTSW	19	34,915,725 (GRCm39)	missense	probably benign	0.02
R9613:Kif20b	UTSW	19	34,919,934 (GRCm39)	missense	possibly damaging	0.80
R9619:Kif20b	UTSW	19	34,933,429 (GRCm39)	missense	probably damaging	1.00
R9732:Kif20b	UTSW	19	34,930,353 (GRCm39)	missense	probably benign	0.18
R9746:Kif20b	UTSW	19	34,928,149 (GRCm39)	nonsense	probably null
Z1088:Kif20b	UTSW	19	34,927,851 (GRCm39)	missense	probably damaging	0.99
Z1176:Kif20b	UTSW	19	34,930,275 (GRCm39)	missense	probably benign	0.11
Z1177:Kif20b	UTSW	19	34,927,866 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAACGGGAAGCCGATTTTAAGTAAG -3'
(R):5'- AGCATTTCTCATCATTAATGTGGGG -3'

Sequencing Primer
(F):5'- CTTCATAACCTGGCAAGAATTGAG -3'
(R):5'- GGGTATTAAATCCTGGTACCAAAAGC -3'

Posted On

2015-02-18