Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03103:Kif16b'

418820

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 #

IGL03103

Quality Score

Status

Chromosome

Chromosomal Location

142460260-142743535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142704408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 57 (T57N)

Ref Sequence

ENSEMBL: ENSMUSP00000148731 (fasta)

Gene Model

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

AlphaFold

B1AVY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000043589
AA Change: T57N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: T57N

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: T57N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230763
AA Change: T57N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc27	A	T	11: 104,403,806 (GRCm39)	F652Y	probably benign	Het
Cntn5	T	C	9: 9,972,817 (GRCm39)		probably benign	Het
Ctsc	A	G	7: 87,959,013 (GRCm39)	N431S	probably benign	Het
Ddi2	A	G	4: 141,430,479 (GRCm39)	M235T	probably damaging	Het
Dgkg	G	A	16: 22,399,275 (GRCm39)	P220S	probably damaging	Het
Gpr180	A	T	14: 118,377,175 (GRCm39)	I59F	possibly damaging	Het
Haspin	A	T	11: 73,027,526 (GRCm39)	V521D	probably damaging	Het
Itprid1	A	G	6: 55,945,144 (GRCm39)	T622A	possibly damaging	Het
Lmbr1	A	G	5: 29,440,014 (GRCm39)	F422S	probably damaging	Het
Lpcat2b	A	T	5: 107,581,414 (GRCm39)	N248Y	probably damaging	Het
Lrch3	T	C	16: 32,772,507 (GRCm39)	V163A	probably damaging	Het
Lrrc49	A	G	9: 60,592,316 (GRCm39)		probably null	Het
Mon2	T	A	10: 122,866,008 (GRCm39)		probably benign	Het
Mroh4	T	C	15: 74,488,008 (GRCm39)	S374G	possibly damaging	Het
Nr1h3	T	A	2: 91,022,360 (GRCm39)	K89N	probably damaging	Het
Or4c29	A	T	2: 88,740,522 (GRCm39)	S72T	probably benign	Het
Or52w1	A	G	7: 105,017,785 (GRCm39)	D75G	probably damaging	Het
Or8b49	A	G	9: 38,505,823 (GRCm39)	Y102C	probably damaging	Het
Phldb3	C	T	7: 24,323,601 (GRCm39)	P445L	possibly damaging	Het
Pstpip1	G	T	9: 56,021,592 (GRCm39)	V39L	possibly damaging	Het
Sbf1	A	T	15: 89,178,150 (GRCm39)	L1560Q	probably damaging	Het
Sco1	C	T	11: 66,946,568 (GRCm39)	Q114*	probably null	Het
Slc29a4	A	G	5: 142,697,835 (GRCm39)	H96R	probably damaging	Het
Slitrk6	A	G	14: 110,987,373 (GRCm39)	L778P	probably benign	Het
Tas2r110	A	G	6: 132,845,443 (GRCm39)	Q158R	probably benign	Het
Tle3	A	G	9: 61,300,524 (GRCm39)	I92V	possibly damaging	Het
Ttn	T	A	2: 76,579,266 (GRCm39)	M15549L	possibly damaging	Het
Urb2	T	G	8: 124,756,491 (GRCm39)	S733A	probably benign	Het
Vcl	T	C	14: 21,074,348 (GRCm39)	W912R	probably 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
IGL01965:Kif16b	APN	2	142,690,325 (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
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

2016-08-02