Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01590:Kif20b'

91568

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 #

IGL01590

Quality Score

Status

Chromosome

Chromosomal Location

34899761-34953145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34932126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1263 (N1263K)

Ref Sequence

ENSEMBL: ENSMUSP00000153034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000223937]

AlphaFold

Q80WE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087341
AA Change: N1303K

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: N1303K

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

possibly damaging
Transcript: ENSMUST00000223907
AA Change: N1263K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223937
AA Change: N38K

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000224728

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,590 (GRCm39)		probably benign	Het
Adgrb2	T	G	4: 129,907,606 (GRCm39)		probably benign	Het
Apcs	C	T	1: 172,722,034 (GRCm39)	G104D	probably damaging	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Cep250	A	T	2: 155,834,237 (GRCm39)	Q2054L	possibly damaging	Het
Dennd6a	T	G	14: 26,340,507 (GRCm39)	V207G	probably benign	Het
Ehbp1	C	A	11: 22,045,611 (GRCm39)	D688Y	possibly damaging	Het
Fam83a	C	A	15: 57,873,173 (GRCm39)	S334Y	probably damaging	Het
Fam83e	T	A	7: 45,373,360 (GRCm39)	F242Y	probably null	Het
Fnip1	A	T	11: 54,384,126 (GRCm39)	D341V	probably damaging	Het
Gpatch3	A	G	4: 133,308,028 (GRCm39)		probably benign	Het
Gpc2	C	A	5: 138,272,640 (GRCm39)	V558F	probably damaging	Het
H2-M10.6	A	G	17: 37,123,641 (GRCm39)	N112D	probably benign	Het
Hs6st1	A	T	1: 36,142,785 (GRCm39)	D240V	probably damaging	Het
Inpp5f	T	A	7: 128,266,031 (GRCm39)		probably null	Het
Itga8	G	T	2: 12,165,144 (GRCm39)	H822N	probably damaging	Het
Krt28	A	G	11: 99,265,220 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,352,630 (GRCm39)	M706L	probably benign	Het
Or1j12	A	T	2: 36,343,004 (GRCm39)	M136L	probably benign	Het
Or52h9	A	C	7: 104,202,782 (GRCm39)	I219L	probably benign	Het
Prox2	A	G	12: 85,134,845 (GRCm39)	W479R	probably damaging	Het
Rps19	A	T	7: 24,587,881 (GRCm39)	D152V	probably damaging	Het
Slc20a1	G	A	2: 129,051,146 (GRCm39)		probably benign	Het
Slc7a2	C	T	8: 41,367,137 (GRCm39)	P564S	probably damaging	Het
Slco1a5	C	A	6: 142,196,045 (GRCm39)	M319I	probably benign	Het
Spmip2	A	C	3: 79,356,647 (GRCm39)	N150T	probably damaging	Het
Spopfm3	G	A	3: 94,105,674 (GRCm39)		probably benign	Het
Tanc1	A	G	2: 59,615,817 (GRCm39)	T275A	probably benign	Het
Tenm3	A	G	8: 48,681,837 (GRCm39)	S2598P	probably damaging	Het
Tiparp	G	A	3: 65,439,397 (GRCm39)	E56K	probably benign	Het
Trpm5	G	A	7: 142,636,471 (GRCm39)	R489C	probably damaging	Het
Vmn2r84	C	A	10: 130,221,964 (GRCm39)	G752V	probably damaging	Het
Wnt5b	T	A	6: 119,417,515 (GRCm39)	T130S	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
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
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

2013-12-09