Mutagenetix > Incidental Mutation

Incidental Mutation 'R2401:Kif16b'

248675

Institutional Source

Beutler Lab

Gene Symbol

Kif16b

Ensembl Gene

ENSMUSG00000038844

Gene Name

kinesin family member 16B

Synonyms

N-3 kinesin, 8430434E15Rik

MMRRC Submission

040367-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142460260-142743535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142598042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 527 (V527I)

Ref Sequence

ENSEMBL: ENSMUSP00000148731 (fasta)

Gene Model

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

AlphaFold

B1AVY7

Predicted Effect

probably benign
Transcript: ENSMUST00000043589
AA Change: V527I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: V527I

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 benign
Transcript: ENSMUST00000211861
AA Change: V527I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000230763
AA Change: V527I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0966

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,882,312 (GRCm39)	L1158P	probably damaging	Het
Acnat1	A	T	4: 49,451,077 (GRCm39)	N11K	possibly damaging	Het
Ammecr1l	T	A	18: 31,909,056 (GRCm39)	I217N	possibly damaging	Het
Ankrd11	G	A	8: 123,635,473 (GRCm39)	R54*	probably null	Het
Ccdc178	C	T	18: 22,264,471 (GRCm39)		probably null	Het
Clcn7	T	C	17: 25,372,114 (GRCm39)	S425P	probably benign	Het
Cnmd	A	G	14: 79,894,045 (GRCm39)	V114A	probably damaging	Het
Col13a1	T	C	10: 61,686,941 (GRCm39)	T651A	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp3a25	T	C	5: 145,923,778 (GRCm39)		probably null	Het
Dmrta1	A	T	4: 89,579,853 (GRCm39)	D271V	probably benign	Het
Efcab3	T	A	11: 104,963,144 (GRCm39)		probably null	Het
Exo5	T	C	4: 120,779,194 (GRCm39)	I224V	probably damaging	Het
Fam162b	C	A	10: 51,463,314 (GRCm39)	A118S	probably damaging	Het
Glb1	A	G	9: 114,283,325 (GRCm39)	T406A	possibly damaging	Het
Grk3	T	C	5: 113,062,849 (GRCm39)	N666S	probably benign	Het
Hars2	T	C	18: 36,922,576 (GRCm39)	F370L	possibly damaging	Het
Ighv8-11	T	G	12: 115,531,223 (GRCm39)		probably benign	Het
Iho1	G	T	9: 108,290,205 (GRCm39)	T133N	possibly damaging	Het
Inpp4b	A	T	8: 82,723,968 (GRCm39)	D500V	probably benign	Het
Itgb4	A	G	11: 115,897,389 (GRCm39)	D1534G	possibly damaging	Het
Kcnk2	G	C	1: 189,072,214 (GRCm39)	T38S	possibly damaging	Het
Kmt2b	A	G	7: 30,276,133 (GRCm39)	Y1789H	probably damaging	Het
Lpl	A	C	8: 69,353,895 (GRCm39)	D412A	possibly damaging	Het
Lrrc27	T	G	7: 138,803,529 (GRCm39)	L151R	probably damaging	Het
Muc17	T	C	5: 137,190,980 (GRCm39)		probably benign	Het
Nup205	T	A	6: 35,185,069 (GRCm39)	Y829*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Olfm4	A	G	14: 80,259,192 (GRCm39)	Y447C	probably damaging	Het
Or4f57	T	C	2: 111,790,494 (GRCm39)	Y308C	probably benign	Het
Pcdhb6	T	C	18: 37,468,222 (GRCm39)	V381A	probably benign	Het
Prmt2	C	T	10: 76,061,249 (GRCm39)	W79*	probably null	Het
Skic2	T	C	17: 35,059,361 (GRCm39)	M1029V	probably benign	Het
Stil	A	G	4: 114,873,483 (GRCm39)	R369G	probably null	Het
Ttc41	T	C	10: 86,560,238 (GRCm39)	I387T	probably benign	Het
Tubgcp6	A	G	15: 88,987,187 (GRCm39)	L1262P	probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zfp804b	T	C	5: 6,819,445 (GRCm39)	H1206R	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCATTATAAAGGCTTTCCAGC -3'
(R):5'- TCTCTGCCACTTGAGATTACAGAC -3'

Sequencing Primer
(F):5'- CTTTCCAGCAAGACAGGAGACATG -3'
(R):5'- TGCCACTTGAGATTACAGACTCACAG -3'

Posted On

2014-11-11