Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03065:Kif16b'

409664

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 #

IGL03065

Quality Score

Status

Chromosome

Chromosomal Location

142460260-142743535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142461833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1273 (Y1273H)

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: Y1262H

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

SMART Domains

Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: Y1262H

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: Y1273H

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	G	8: 84,665,143 (GRCm39)	M1322V	possibly damaging	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Afg2a	T	C	3: 37,486,328 (GRCm39)	V350A	possibly damaging	Het
Als2	T	C	1: 59,255,031 (GRCm39)	S109G	probably benign	Het
Bpifa1	T	A	2: 153,989,562 (GRCm39)	N250K	probably damaging	Het
Capn9	A	C	8: 125,332,298 (GRCm39)	Y423S	probably damaging	Het
Cd200r1	T	G	16: 44,614,645 (GRCm39)	V308G	probably benign	Het
Cic	T	C	7: 24,985,246 (GRCm39)		probably benign	Het
Col5a1	T	A	2: 27,922,757 (GRCm39)	I275N	possibly damaging	Het
Col6a4	C	A	9: 105,918,363 (GRCm39)		probably benign	Het
Cpeb1	T	C	7: 81,086,038 (GRCm39)	R35G	probably benign	Het
Cul1	A	G	6: 47,472,015 (GRCm39)	Y52C	probably damaging	Het
Dctn1	T	C	6: 83,169,475 (GRCm39)	F496L	probably damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Eaf2	C	T	16: 36,648,484 (GRCm39)	R12H	probably benign	Het
Gcc1	T	A	6: 28,418,401 (GRCm39)	Q644L	possibly damaging	Het
Gm44865	C	T	7: 108,165,004 (GRCm39)		probably benign	Het
Golgb1	C	T	16: 36,733,228 (GRCm39)	S825L	probably benign	Het
Gstp3	C	T	19: 4,108,730 (GRCm39)		probably null	Het
Heph	T	A	X: 95,571,173 (GRCm39)	I669N	probably benign	Het
Il12rb1	A	T	8: 71,273,202 (GRCm39)	Y635F	possibly damaging	Het
Ing3	G	A	6: 21,971,221 (GRCm39)	A331T	probably benign	Het
Ipo8	T	A	6: 148,686,205 (GRCm39)	I762F	probably benign	Het
Itpr3	G	A	17: 27,310,907 (GRCm39)	R510Q	probably damaging	Het
Map3k14	T	C	11: 103,115,927 (GRCm39)	E784G	probably damaging	Het
Mpdz	A	T	4: 81,210,802 (GRCm39)	N1694K	probably damaging	Het
Myh13	T	C	11: 67,235,679 (GRCm39)	F648S	probably damaging	Het
Myh4	A	G	11: 67,149,982 (GRCm39)	H1847R	probably benign	Het
Ncoa7	T	A	10: 30,523,993 (GRCm39)	D840V	probably damaging	Het
Nxpe2	T	A	9: 48,230,992 (GRCm39)	N459I	possibly damaging	Het
Or4d10c	C	A	19: 12,065,975 (GRCm39)	L60F	possibly damaging	Het
Or4k2	C	A	14: 50,424,465 (GRCm39)	D70Y	probably damaging	Het
Or4k47	T	C	2: 111,451,535 (GRCm39)	K295E	probably damaging	Het
Ovgp1	T	C	3: 105,893,682 (GRCm39)	F485S	probably benign	Het
Parp4	G	T	14: 56,875,326 (GRCm39)	A1182S	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pla2g15	G	A	8: 106,886,851 (GRCm39)	R114H	probably benign	Het
Plppr3	T	A	10: 79,701,880 (GRCm39)	T321S	probably benign	Het
Rnf113a1	A	G	X: 36,455,748 (GRCm39)	D235G	probably benign	Het
Rsrp1	A	G	4: 134,651,700 (GRCm39)	T155A	possibly damaging	Het
Simc1	G	T	13: 54,685,025 (GRCm39)	C87F	probably damaging	Het
Slco1a5	A	G	6: 142,194,569 (GRCm39)		probably benign	Het
Slco1a8	C	A	6: 141,938,228 (GRCm39)	L230F	probably damaging	Het
Smyd5	A	G	6: 85,419,146 (GRCm39)	D276G	possibly damaging	Het
Tmem132c	A	G	5: 127,640,688 (GRCm39)	Y953C	probably damaging	Het
Trank1	T	A	9: 111,219,361 (GRCm39)	S2033T	possibly damaging	Het
Trim69	A	G	2: 122,009,115 (GRCm39)	T392A	probably damaging	Het
Tsks	T	C	7: 44,592,724 (GRCm39)	V6A	probably damaging	Het
Yjefn3	A	G	8: 70,342,206 (GRCm39)		probably benign	Het
Zfp263	T	G	16: 3,564,344 (GRCm39)	D211E	probably benign	Het
Zfp994	A	T	17: 22,421,661 (GRCm39)	F51L	probably damaging	Het
Znfx1	A	T	2: 166,897,685 (GRCm39)	M413K	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
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

2016-08-02