Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01965:Kif16b'

182498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif16b

Ensembl Gene

ENSMUSG00000038844

Gene Name

kinesin family member 16B

Synonyms

N-3 kinesin, 8430434E15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01965

Quality Score

Status

Chromosome

Chromosomal Location

142460260-142743535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142690325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 252 (D252E)

Ref Sequence

ENSEMBL: ENSMUSP00000154926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043589] [ENSMUST00000211861] [ENSMUST00000230763]

AlphaFold

B1AVY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000043589
AA Change: D252E

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

SMART Domains

Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: D252E

Domain	Start	End	E-Value	Type
KISc	1	366	4.87e-173	SMART
FHA	477	529	1.43e-1	SMART
coiled coil region	597	809	N/A	INTRINSIC
coiled coil region	835	858	N/A	INTRINSIC
coiled coil region	941	1022	N/A	INTRINSIC
PX	1179	1281	1.58e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000211861
AA Change: D252E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230763
AA Change: D252E

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Chimera embryos containing a knock-out allele and derived from tetraploid rescue exhibit lethal growth arrest at the blastocyst stage with abnormal development of the primitive endoderm, epiblast epithelium, and basement membrane. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411G06Rik	T	A	10: 51,633,078 (GRCm39)		noncoding transcript	Het
Adm	C	T	7: 110,227,832 (GRCm39)	L67F	probably benign	Het
Bcl10	C	T	3: 145,638,939 (GRCm39)	R194*	probably null	Het
Brat1	T	C	5: 140,703,811 (GRCm39)	V688A	probably benign	Het
Cep57	T	A	9: 13,732,816 (GRCm39)		probably benign	Het
Dhx57	G	A	17: 80,576,279 (GRCm39)	R604W	probably damaging	Het
Fndc3a	A	G	14: 72,777,842 (GRCm39)	I1121T	probably benign	Het
Fry	A	G	5: 150,305,086 (GRCm39)	E597G	probably damaging	Het
Gabra2	A	G	5: 71,165,418 (GRCm39)		probably benign	Het
Golgb1	A	G	16: 36,738,282 (GRCm39)	D2207G	probably damaging	Het
Htr4	T	A	18: 62,570,740 (GRCm39)	M265K	probably damaging	Het
Igf2r	C	T	17: 12,923,225 (GRCm39)	V1195M	probably benign	Het
Itga2	C	A	13: 114,984,600 (GRCm39)		probably benign	Het
Itih3	T	C	14: 30,637,677 (GRCm39)	H494R	probably damaging	Het
Itpkb	C	A	1: 180,159,970 (GRCm39)	T32K	probably damaging	Het
Klhl33	A	G	14: 51,129,187 (GRCm39)	Y681H	probably damaging	Het
Lats1	T	A	10: 7,577,470 (GRCm39)	V198E	probably benign	Het
Me3	A	G	7: 89,500,951 (GRCm39)	D554G	probably benign	Het
Mindy4	C	T	6: 55,237,517 (GRCm39)		probably benign	Het
Nipa2	G	A	7: 55,594,371 (GRCm39)		probably benign	Het
Or4c116	G	A	2: 88,942,535 (GRCm39)	T107I	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or5d14	A	G	2: 87,880,780 (GRCm39)	F63L	probably benign	Het
Or8b51	A	T	9: 38,568,918 (GRCm39)	F257I	probably benign	Het
Ptgis	A	T	2: 167,050,173 (GRCm39)	W319R	probably benign	Het
Pygl	C	T	12: 70,237,888 (GRCm39)	A717T	probably benign	Het
Rbbp8	A	T	18: 11,855,317 (GRCm39)	K514I	probably benign	Het
Scn9a	A	T	2: 66,314,777 (GRCm39)	L1636H	probably damaging	Het
Serpina3j	A	G	12: 104,281,063 (GRCm39)	T79A	probably benign	Het
Sfxn4	A	G	19: 60,847,182 (GRCm39)		probably benign	Het
Shc2	T	A	10: 79,463,023 (GRCm39)		probably benign	Het
Sim2	A	T	16: 93,922,037 (GRCm39)	Y294F	probably benign	Het
Tep1	A	G	14: 51,100,952 (GRCm39)		probably benign	Het
Ubr1	A	G	2: 120,705,879 (GRCm39)	L1528P	probably damaging	Het
Usp53	A	G	3: 122,754,802 (GRCm39)		probably null	Het
Vmn2r87	G	T	10: 130,314,924 (GRCm39)	L221I	possibly damaging	Het

Other mutations in Kif16b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Kif16b	APN	2	142,689,955 (GRCm39)	nonsense	probably null
IGL00499:Kif16b	APN	2	142,699,244 (GRCm39)	missense	probably damaging	1.00
IGL00913:Kif16b	APN	2	142,545,927 (GRCm39)	nonsense	probably null
IGL00971:Kif16b	APN	2	142,553,664 (GRCm39)	missense	probably benign	0.01
IGL01712:Kif16b	APN	2	142,490,391 (GRCm39)	missense	probably damaging	1.00
IGL02428:Kif16b	APN	2	142,514,280 (GRCm39)	missense	possibly damaging	0.88
IGL02576:Kif16b	APN	2	142,704,465 (GRCm39)	splice site	probably benign
IGL02884:Kif16b	APN	2	142,544,534 (GRCm39)	splice site	probably benign
IGL03065:Kif16b	APN	2	142,461,833 (GRCm39)	missense	probably damaging	1.00
IGL03103:Kif16b	APN	2	142,704,408 (GRCm39)	missense	probably damaging	1.00
IGL03403:Kif16b	APN	2	142,553,789 (GRCm39)	missense	probably damaging	1.00
IGL02835:Kif16b	UTSW	2	142,554,133 (GRCm39)	missense	probably benign	0.00
R0058:Kif16b	UTSW	2	142,699,225 (GRCm39)	splice site	probably null
R0058:Kif16b	UTSW	2	142,699,225 (GRCm39)	splice site	probably null
R0081:Kif16b	UTSW	2	142,549,346 (GRCm39)	splice site	probably benign
R0123:Kif16b	UTSW	2	142,514,295 (GRCm39)	missense	probably benign
R0134:Kif16b	UTSW	2	142,514,295 (GRCm39)	missense	probably benign
R0388:Kif16b	UTSW	2	142,582,857 (GRCm39)	missense	probably damaging	1.00
R0396:Kif16b	UTSW	2	142,695,579 (GRCm39)	missense	probably damaging	1.00
R0502:Kif16b	UTSW	2	142,554,075 (GRCm39)	missense	probably benign	0.00
R1027:Kif16b	UTSW	2	142,696,458 (GRCm39)	splice site	probably benign
R1674:Kif16b	UTSW	2	142,554,873 (GRCm39)	nonsense	probably null
R1752:Kif16b	UTSW	2	142,532,586 (GRCm39)	missense	probably benign	0.01
R2154:Kif16b	UTSW	2	142,532,500 (GRCm39)	missense	probably damaging	1.00
R2262:Kif16b	UTSW	2	142,582,837 (GRCm39)	missense	probably damaging	1.00
R2401:Kif16b	UTSW	2	142,598,042 (GRCm39)	missense	probably benign	0.04
R3951:Kif16b	UTSW	2	142,549,279 (GRCm39)	missense	probably benign	0.01
R4161:Kif16b	UTSW	2	142,549,324 (GRCm39)	missense	probably benign	0.00
R4697:Kif16b	UTSW	2	142,532,614 (GRCm39)	missense	probably benign	0.09
R4747:Kif16b	UTSW	2	142,699,346 (GRCm39)	missense	probably damaging	1.00
R4808:Kif16b	UTSW	2	142,699,278 (GRCm39)	missense	probably damaging	1.00
R4878:Kif16b	UTSW	2	142,689,923 (GRCm39)	missense	probably damaging	1.00
R5068:Kif16b	UTSW	2	142,553,627 (GRCm39)	missense	probably benign
R5120:Kif16b	UTSW	2	142,690,259 (GRCm39)	missense	probably damaging	1.00
R5358:Kif16b	UTSW	2	142,582,889 (GRCm39)	missense	probably damaging	1.00
R5821:Kif16b	UTSW	2	142,544,586 (GRCm39)	missense	probably damaging	1.00
R5833:Kif16b	UTSW	2	142,549,287 (GRCm39)	missense	probably benign
R5882:Kif16b	UTSW	2	142,549,178 (GRCm39)	critical splice donor site	probably null
R5974:Kif16b	UTSW	2	142,699,301 (GRCm39)	missense	probably damaging	1.00
R6043:Kif16b	UTSW	2	142,553,820 (GRCm39)	missense	probably damaging	1.00
R6230:Kif16b	UTSW	2	142,691,832 (GRCm39)	missense	probably damaging	1.00
R6373:Kif16b	UTSW	2	142,541,618 (GRCm39)	missense	possibly damaging	0.91
R6472:Kif16b	UTSW	2	142,541,868 (GRCm39)	intron	probably benign
R6622:Kif16b	UTSW	2	142,554,362 (GRCm39)	missense	probably benign	0.01
R6654:Kif16b	UTSW	2	142,543,197 (GRCm39)	intron	probably benign
R6912:Kif16b	UTSW	2	142,542,019 (GRCm39)	intron	probably benign
R7003:Kif16b	UTSW	2	142,600,749 (GRCm39)	missense	possibly damaging	0.95
R7265:Kif16b	UTSW	2	142,556,650 (GRCm39)	missense	probably damaging	1.00
R7307:Kif16b	UTSW	2	142,554,851 (GRCm39)	missense	probably benign	0.00
R7376:Kif16b	UTSW	2	142,553,792 (GRCm39)	missense	probably damaging	0.99
R7381:Kif16b	UTSW	2	142,699,343 (GRCm39)	missense	probably damaging	1.00
R7558:Kif16b	UTSW	2	142,600,746 (GRCm39)	missense	probably damaging	1.00
R7681:Kif16b	UTSW	2	142,598,046 (GRCm39)	missense	probably damaging	1.00
R7896:Kif16b	UTSW	2	142,675,995 (GRCm39)	critical splice donor site	probably null
R7956:Kif16b	UTSW	2	142,704,390 (GRCm39)	missense	probably benign	0.00
R8053:Kif16b	UTSW	2	142,695,634 (GRCm39)	missense	probably damaging	1.00
R8056:Kif16b	UTSW	2	142,554,762 (GRCm39)	missense	probably damaging	1.00
R8139:Kif16b	UTSW	2	142,743,285 (GRCm39)	missense	probably benign	0.00
R8182:Kif16b	UTSW	2	142,554,819 (GRCm39)	missense	possibly damaging	0.90
R8224:Kif16b	UTSW	2	142,676,008 (GRCm39)	missense	probably benign	0.03
R8357:Kif16b	UTSW	2	142,553,828 (GRCm39)	missense	probably damaging	1.00
R8359:Kif16b	UTSW	2	142,553,777 (GRCm39)	missense	probably benign	0.05
R8360:Kif16b	UTSW	2	142,553,777 (GRCm39)	missense	probably benign	0.05
R8369:Kif16b	UTSW	2	142,553,777 (GRCm39)	missense	probably benign	0.05
R8385:Kif16b	UTSW	2	142,554,258 (GRCm39)	missense	probably benign	0.09
R8457:Kif16b	UTSW	2	142,553,828 (GRCm39)	missense	probably damaging	1.00
R8720:Kif16b	UTSW	2	142,691,792 (GRCm39)	missense	probably damaging	1.00
R8898:Kif16b	UTSW	2	142,554,899 (GRCm39)	missense	possibly damaging	0.81
R8987:Kif16b	UTSW	2	142,743,278 (GRCm39)	missense	probably benign	0.00
R8987:Kif16b	UTSW	2	142,691,783 (GRCm39)	critical splice donor site	probably null
R9022:Kif16b	UTSW	2	142,554,537 (GRCm39)	missense	possibly damaging	0.46
R9040:Kif16b	UTSW	2	142,691,798 (GRCm39)	missense	probably benign	0.02
R9044:Kif16b	UTSW	2	142,541,577 (GRCm39)	missense	possibly damaging	0.91
R9138:Kif16b	UTSW	2	142,542,476 (GRCm39)	missense
R9167:Kif16b	UTSW	2	142,542,840 (GRCm39)	nonsense	probably null
R9218:Kif16b	UTSW	2	142,541,583 (GRCm39)	missense	possibly damaging	0.77
R9283:Kif16b	UTSW	2	142,554,900 (GRCm39)	missense	probably benign	0.00
R9300:Kif16b	UTSW	2	142,541,207 (GRCm39)	missense	probably benign
R9378:Kif16b	UTSW	2	142,461,738 (GRCm39)	nonsense	probably null
R9522:Kif16b	UTSW	2	142,691,827 (GRCm39)	missense	probably damaging	0.96
R9588:Kif16b	UTSW	2	142,553,804 (GRCm39)	missense	possibly damaging	0.82
R9632:Kif16b	UTSW	2	142,553,960 (GRCm39)	missense	probably benign	0.00
R9641:Kif16b	UTSW	2	142,542,589 (GRCm39)	missense	probably benign	0.01
X0058:Kif16b	UTSW	2	142,600,781 (GRCm39)	missense	probably damaging	1.00
Z1177:Kif16b	UTSW	2	142,553,744 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-05-07