Mutagenetix > Incidental Mutation

Incidental Mutation 'R6043:Kif16b'

483649

Institutional Source

Beutler Lab

Gene Symbol

Kif16b

Ensembl Gene

ENSMUSG00000038844

Gene Name

kinesin family member 16B

Synonyms

N-3 kinesin, 8430434E15Rik

MMRRC Submission

044211-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6043 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142460260-142743535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142553820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 993 (S993P)

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: S993P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: S993P

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: S993P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230763
AA Change: S1004P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	T	C	1: 171,080,170 (GRCm39)	F44S	probably damaging	Het
Ap3b1	A	T	13: 94,613,501 (GRCm39)	T667S	probably benign	Het
Camsap1	T	C	2: 25,819,937 (GRCm39)	Y1516C	probably benign	Het
Ccl17	A	G	8: 95,537,100 (GRCm39)	M1V	probably null	Het
Cfhr1	T	A	1: 139,478,606 (GRCm39)	T255S	probably benign	Het
Clcn6	T	C	4: 148,093,245 (GRCm39)	N812D	probably damaging	Het
Cyp2b10	T	C	7: 25,616,764 (GRCm39)	F402L	probably damaging	Het
Dgkz	A	C	2: 91,766,234 (GRCm39)	S776A	probably benign	Het
Dnaaf2	A	T	12: 69,244,122 (GRCm39)	L313Q	probably damaging	Het
Dnah10	G	A	5: 124,878,924 (GRCm39)	G2728S	probably damaging	Het
Dnah7b	T	A	1: 46,178,949 (GRCm39)	M874K	probably benign	Het
Eef1akmt3	A	T	10: 126,869,147 (GRCm39)	L109Q	probably damaging	Het
Egf	A	G	3: 129,530,434 (GRCm39)	S243P	probably benign	Het
Fbxw21	T	C	9: 108,974,607 (GRCm39)	I304M	possibly damaging	Het
Fcgr4	T	C	1: 170,847,699 (GRCm39)	V99A	probably damaging	Het
Fhdc1	T	C	3: 84,356,193 (GRCm39)	E417G	probably damaging	Het
Flnc	G	T	6: 29,446,607 (GRCm39)	G939V	probably damaging	Het
Herc1	A	G	9: 66,315,436 (GRCm39)	M1173V	probably benign	Het
Hspa2	C	T	12: 76,453,096 (GRCm39)	H597Y	probably damaging	Het
Itgb4	C	T	11: 115,870,212 (GRCm39)	T64I	probably benign	Het
Kitl	T	A	10: 99,899,947 (GRCm39)	V84E	probably damaging	Het
Klra17	A	G	6: 129,849,150 (GRCm39)		probably null	Het
Map2k3	A	G	11: 60,837,572 (GRCm39)	D224G	probably benign	Het
Medag	T	G	5: 149,345,672 (GRCm39)	F4V	probably benign	Het
Mob3b	C	T	4: 34,985,993 (GRCm39)	V182I	probably benign	Het
Mvb12b	G	T	2: 33,764,402 (GRCm39)	T49K	probably damaging	Het
Naaladl2	A	G	3: 24,112,378 (GRCm39)	V568A	possibly damaging	Het
Nbea	T	C	3: 55,693,896 (GRCm39)	E2174G	probably benign	Het
Nmd3	T	C	3: 69,652,580 (GRCm39)	Y389H	probably benign	Het
Or13g1	A	G	7: 85,955,547 (GRCm39)	I258T	probably damaging	Het
Or4p19	C	T	2: 88,242,589 (GRCm39)	E138K	probably benign	Het
Pcare	T	C	17: 72,057,037 (GRCm39)	D880G	probably damaging	Het
Pcdh1	T	A	18: 38,336,327 (GRCm39)	N103Y	probably damaging	Het
Pcm1	A	G	8: 41,781,815 (GRCm39)	D1905G	possibly damaging	Het
Plcd1	A	G	9: 118,901,667 (GRCm39)	F619S	probably damaging	Het
Ptdss1	T	A	13: 67,111,433 (GRCm39)	D166E	probably damaging	Het
Rnf213	T	C	11: 119,332,927 (GRCm39)	V2713A	probably damaging	Het
Sema4f	T	C	6: 82,896,634 (GRCm39)	N200D	probably damaging	Het
Tjp1	A	T	7: 64,973,837 (GRCm39)	N472K	probably damaging	Het
Trav6n-5	T	C	14: 53,342,608 (GRCm39)	Y49H	probably benign	Het
Trbv2	A	G	6: 41,024,904 (GRCm39)	T107A	probably benign	Het
Unc13c	T	C	9: 73,643,933 (GRCm39)	N1177S	possibly damaging	Het
Vmn1r212	A	G	13: 23,068,258 (GRCm39)	V25A	probably damaging	Het
Zfhx4	T	G	3: 5,468,487 (GRCm39)	S2882A	probably benign	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	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
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
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'- GGGTCCATCTCAAGTGCTTC -3'
(R):5'- CTTGATGCCCTTGACAGTGGTG -3'

Sequencing Primer
(F):5'- AAGTGCTTCTCCATCAGTCTCCAG -3'
(R):5'- AGTGGTGTCCTAGGCCTAGAC -3'

Posted On

2017-07-14