Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03186:Kif20b'

412458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif20b

Ensembl Gene

ENSMUSG00000024795

Gene Name

kinesin family member 20B

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

IGL03186

Quality Score

Status

Chromosome

Chromosomal Location

34899761-34953145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34912344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 250 (E250V)

Ref Sequence

ENSEMBL: ENSMUSP00000153034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223776] [ENSMUST00000223907] [ENSMUST00000225408]

AlphaFold

Q80WE4

Predicted Effect

probably benign
Transcript: ENSMUST00000087341
AA Change: E250V

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: E250V

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 benign
Transcript: ENSMUST00000223776

Predicted Effect

probably benign
Transcript: ENSMUST00000223907
AA Change: E250V

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224603

Predicted Effect

probably benign
Transcript: ENSMUST00000224728

Predicted Effect

probably benign
Transcript: ENSMUST00000225408

Coding Region Coverage

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,581,737 (GRCm39)	I4769T	possibly damaging	Het
Ankrd53	T	C	6: 83,740,695 (GRCm39)	I106T	probably benign	Het
Arsi	A	G	18: 61,050,545 (GRCm39)	D476G	probably damaging	Het
Atp2c1	T	C	9: 105,290,329 (GRCm39)	K760E	probably benign	Het
C030048H21Rik	A	G	2: 26,143,350 (GRCm39)		probably null	Het
Cep152	A	G	2: 125,405,895 (GRCm39)	S1546P	probably benign	Het
Cimap1c	T	G	9: 56,756,356 (GRCm39)	N220T	probably benign	Het
Clock	T	C	5: 76,390,929 (GRCm39)	H291R	probably damaging	Het
Fkbp4	T	C	6: 128,411,763 (GRCm39)	T109A	probably benign	Het
Igkv1-117	T	C	6: 68,098,783 (GRCm39)	Y111H	probably damaging	Het
Mef2c	A	G	13: 83,800,987 (GRCm39)	N229S	probably benign	Het
Ndufa9	A	G	6: 126,821,855 (GRCm39)	V36A	possibly damaging	Het
Neb	T	C	2: 52,100,671 (GRCm39)		probably benign	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Neurl1a	T	A	19: 47,228,916 (GRCm39)	F152Y	probably damaging	Het
Nlrp14	G	T	7: 106,785,877 (GRCm39)	C651F	probably damaging	Het
Or4a2	T	A	2: 89,248,188 (GRCm39)	T190S	probably damaging	Het
Or5ac20	A	T	16: 59,104,266 (GRCm39)	V198E	probably damaging	Het
Or7g21	T	A	9: 19,033,200 (GRCm39)	D316E	probably benign	Het
Pex2	C	A	3: 5,626,777 (GRCm39)	A11S	probably benign	Het
Pitpna	C	A	11: 75,503,076 (GRCm39)	H137N	probably benign	Het
Pole	T	G	5: 110,447,786 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,380,306 (GRCm39)	I35N	possibly damaging	Het
Serpina1e	T	C	12: 103,915,462 (GRCm39)	H248R	probably benign	Het
Sgsm1	C	T	5: 113,432,887 (GRCm39)	A254T	probably benign	Het
St3gal3	G	A	4: 117,797,251 (GRCm39)	P331S	possibly damaging	Het
Ttn	T	A	2: 76,602,106 (GRCm39)	K16773*	probably null	Het
Zfp687	T	C	3: 94,918,405 (GRCm39)	T456A	probably benign	Het
Zranb1	A	G	7: 132,551,932 (GRCm39)	I220M	possibly damaging	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
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
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

Posted On

2016-08-02