Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01712:Kif16b'

104808

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 #

IGL01712

Quality Score

Status

Chromosome

Chromosomal Location

142460260-142743535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142490391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1257 (N1257I)

Ref Sequence

ENSEMBL: ENSMUSP00000154926 (fasta)

Gene Model

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

AlphaFold

B1AVY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000043589
AA Change: N1246I

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

SMART Domains

Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: N1246I

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

noncoding transcript
Transcript: ENSMUST00000142078

Predicted Effect

probably damaging
Transcript: ENSMUST00000230763
AA Change: N1257I

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,321 (GRCm39)	I164N	possibly damaging	Het
Adgrb3	A	G	1: 25,865,360 (GRCm39)	V161A	probably benign	Het
Arhgdib	G	A	6: 136,901,195 (GRCm39)	T178M	probably damaging	Het
Atp11a	T	A	8: 12,901,138 (GRCm39)	I989K	probably benign	Het
Bcam	T	C	7: 19,492,692 (GRCm39)	S498G	probably damaging	Het
Bcas3	A	G	11: 85,471,874 (GRCm39)	I728V	probably damaging	Het
Cep57	G	T	9: 13,724,713 (GRCm39)	P119Q	possibly damaging	Het
Cimip2a	T	C	2: 25,108,804 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,106,036 (GRCm39)	I73N	probably damaging	Het
Cpa4	A	G	6: 30,590,815 (GRCm39)	D371G	possibly damaging	Het
Dnah7a	A	G	1: 53,462,429 (GRCm39)	S3721P	probably benign	Het
Fcrla	T	C	1: 170,749,192 (GRCm39)		probably null	Het
Foxg1	T	C	12: 49,432,403 (GRCm39)	S379P	possibly damaging	Het
Gatm	T	A	2: 122,431,306 (GRCm39)	Y227F	possibly damaging	Het
Grid2	A	T	6: 64,642,899 (GRCm39)	D887V	possibly damaging	Het
Gtpbp6	A	T	5: 110,252,245 (GRCm39)	I429N	probably benign	Het
Ighmbp2	A	G	19: 3,323,038 (GRCm39)		probably benign	Het
Irs4	T	C	X: 140,505,395 (GRCm39)	N934D	unknown	Het
L1cam	T	C	X: 72,908,044 (GRCm39)	Y169C	probably damaging	Het
L3mbtl3	A	T	10: 26,152,133 (GRCm39)	M821K	probably damaging	Het
Lig3	A	G	11: 82,680,367 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,522,063 (GRCm39)	D32E	probably damaging	Het
Mcoln3	T	C	3: 145,834,019 (GRCm39)		probably benign	Het
Mgst2	T	C	3: 51,571,992 (GRCm39)	V40A	probably damaging	Het
Mov10l1	T	C	15: 88,908,969 (GRCm39)	S997P	probably damaging	Het
Mycbpap	G	T	11: 94,403,481 (GRCm39)	H187Q	possibly damaging	Het
Onecut2	T	A	18: 64,519,673 (GRCm39)	S478T	probably damaging	Het
Or2n1d	A	T	17: 38,646,848 (GRCm39)	T267S	probably benign	Het
Or52h7	T	C	7: 104,214,226 (GRCm39)	V266A	probably benign	Het
Pcdhb5	A	T	18: 37,454,306 (GRCm39)	I229F	probably damaging	Het
Pfas	A	G	11: 68,881,886 (GRCm39)	V933A	probably benign	Het
Phldb2	A	T	16: 45,571,792 (GRCm39)	I1200N	probably damaging	Het
Pla2g4e	C	A	2: 120,019,884 (GRCm39)		probably null	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Rhot2	A	G	17: 26,060,334 (GRCm39)		probably null	Het
Serpina3f	C	T	12: 104,184,657 (GRCm39)	P267L	probably damaging	Het
Sppl2a	C	T	2: 126,746,823 (GRCm39)		probably benign	Het
Tas2r122	A	T	6: 132,688,725 (GRCm39)	M56K	possibly damaging	Het
Tbxas1	A	G	6: 39,057,994 (GRCm39)	T450A	probably benign	Het
Tex16	T	C	X: 111,003,451 (GRCm39)	S87P	probably damaging	Het
Them7	T	A	2: 105,209,230 (GRCm39)	F183L	possibly damaging	Het
Tmbim7	A	G	5: 3,720,074 (GRCm39)	T116A	probably damaging	Het
Tomm40	G	T	7: 19,437,288 (GRCm39)	S224R	probably benign	Het
Top3a	A	T	11: 60,652,562 (GRCm39)	I84N	probably damaging	Het
Vmn1r28	A	G	6: 58,242,393 (GRCm39)	T79A	probably benign	Het
Vmn2r61	A	T	7: 41,909,661 (GRCm39)	Y62F	probably damaging	Het
Zbtb42	T	C	12: 112,646,718 (GRCm39)	C298R	probably benign	Het
Zfp395	G	A	14: 65,623,836 (GRCm39)	E102K	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
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
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

2014-01-21