Mutagenetix > Incidental Mutation

Incidental Mutation 'R0058:Kif16b'

18415

Institutional Source

Beutler Lab

Gene Symbol

Kif16b

Ensembl Gene

ENSMUSG00000038844

Gene Name

kinesin family member 16B

Synonyms

N-3 kinesin, 8430434E15Rik

MMRRC Submission

038352-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0058 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

142460260-142743535 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 142699225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154926 (fasta)

Gene Model

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

AlphaFold

B1AVY7

Predicted Effect

probably null
Transcript: ENSMUST00000043589

SMART Domains

Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844

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 null
Transcript: ENSMUST00000211861

Predicted Effect

probably null
Transcript: ENSMUST00000230763

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 87.4%
3x: 82.9%
10x: 66.9%
20x: 41.4%

Validation Efficiency

85% (62/73)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,330,791 (GRCm39)	V6088A	possibly damaging	Het
Ankrd36	A	G	11: 5,580,691 (GRCm39)		probably benign	Het
Anxa1	A	T	19: 20,361,141 (GRCm39)	Y84N	probably damaging	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Avpr1b	A	G	1: 131,527,524 (GRCm39)	T16A	probably benign	Het
Cables1	A	G	18: 12,056,470 (GRCm39)	E316G	possibly damaging	Het
Cadm1	A	T	9: 47,761,629 (GRCm39)	I427L	probably damaging	Het
Dazap1	T	C	10: 80,097,415 (GRCm39)		probably benign	Het
Dip2b	A	G	15: 100,113,121 (GRCm39)	E1512G	probably benign	Het
Dock1	G	A	7: 134,710,490 (GRCm39)	V1171M	possibly damaging	Het
Dock5	A	T	14: 68,018,485 (GRCm39)	F1230Y	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Dym	G	A	18: 75,176,243 (GRCm39)	E15K	possibly damaging	Het
Faf1	A	G	4: 109,593,821 (GRCm39)	Q133R	probably benign	Het
Fcer2a	T	C	8: 3,738,111 (GRCm39)		probably benign	Het
Fmo2	A	T	1: 162,713,893 (GRCm39)	S204R	probably benign	Het
Ghitm	A	G	14: 36,853,549 (GRCm39)	L97P	probably damaging	Het
Gins4	A	G	8: 23,719,526 (GRCm39)		probably benign	Het
Gm10573	G	A	4: 121,754,005 (GRCm39)			Het
Golga3	T	A	5: 110,350,643 (GRCm39)	F766Y	possibly damaging	Het
Hapln1	T	C	13: 89,755,997 (GRCm39)	I267T	probably benign	Het
Helz	A	T	11: 107,563,384 (GRCm39)		probably benign	Het
Igll1	A	T	16: 16,681,740 (GRCm39)	V5E	probably benign	Het
Limk1	A	T	5: 134,688,725 (GRCm39)	W507R	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mtif3	C	A	5: 146,893,731 (GRCm39)	V159F	probably benign	Het
Ncoa7	T	A	10: 30,523,537 (GRCm39)	D887V	probably damaging	Het
Pkd1	G	C	17: 24,783,677 (GRCm39)	A162P	probably benign	Het
Plce1	A	G	19: 38,513,628 (GRCm39)	D309G	possibly damaging	Het
Plk4	T	C	3: 40,760,307 (GRCm39)	V401A	probably benign	Het
Prrc2c	C	T	1: 162,526,453 (GRCm39)	V253I	unknown	Het
Ranbp2	T	A	10: 58,316,353 (GRCm39)	S2358T	probably damaging	Het
Setd2	T	A	9: 110,423,494 (GRCm39)	V2183E	probably damaging	Het
Sgsm1	T	A	5: 113,432,953 (GRCm39)	S232C	probably damaging	Het
Skint6	A	T	4: 112,904,012 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,909 (GRCm39)	I531T	probably benign	Het
Slc36a1	C	T	11: 55,112,820 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,883,708 (GRCm39)		probably null	Het
Tex15	C	T	8: 34,071,530 (GRCm39)		probably benign	Het
Tlr9	T	G	9: 106,102,164 (GRCm39)	L485R	possibly damaging	Het
Tmem207	A	G	16: 26,343,579 (GRCm39)		probably benign	Het
Triml2	T	C	8: 43,638,306 (GRCm39)		probably benign	Het
Tspear	T	C	10: 77,705,465 (GRCm39)	F288L	probably benign	Het
Zfp644	A	T	5: 106,784,869 (GRCm39)	S559R	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
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
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

2013-03-25