Mutagenetix > Incidental Mutation

Incidental Mutation 'R2257:Kif4'

243495

Institutional Source

Beutler Lab

Gene Symbol

Kif4

Ensembl Gene

ENSMUSG00000034311

Gene Name

kinesin family member 4

Synonyms

N-5 kinesin, D330050K22Rik, Kns4

MMRRC Submission

040257-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.703) question?

Stock #

R2257 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

99669693-99770878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99769737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1126 (N1126Y)

Ref Sequence

ENSEMBL: ENSMUSP00000048383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019503] [ENSMUST00000048962] [ENSMUST00000113744]

AlphaFold

P33174

PDB Structure

Crystal Structure of the Kif4 Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif4 Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000019503

SMART Domains

Protein: ENSMUSP00000019503
Gene: ENSMUSG00000019359

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	157	176	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
Pfam:GDPD	230	390	1.3e-26	PFAM
transmembrane domain	491	513	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048962
AA Change: N1126Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048383
Gene: ENSMUSG00000034311
AA Change: N1126Y

Domain	Start	End	E-Value	Type
KISc	7	345	6.98e-183	SMART
low complexity region	352	368	N/A	INTRINSIC
Blast:KISc	369	399	2e-8	BLAST
Blast:KISc	424	501	6e-27	BLAST
low complexity region	525	543	N/A	INTRINSIC
coiled coil region	555	791	N/A	INTRINSIC
coiled coil region	815	848	N/A	INTRINSIC
low complexity region	916	927	N/A	INTRINSIC
coiled coil region	935	1000	N/A	INTRINSIC
CXC	1081	1123	1.66e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113744

SMART Domains

Protein: ENSMUSP00000109373
Gene: ENSMUSG00000019359

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	157	176	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
Pfam:GDPD	230	390	1.3e-26	PFAM
transmembrane domain	491	513	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156336

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	A	T	X: 69,438,012 (GRCm39)	W94R	probably damaging	Het
Abcc3	C	T	11: 94,254,420 (GRCm39)	V693M	probably damaging	Het
Acp7	A	C	7: 28,313,838 (GRCm39)	W399G	probably damaging	Het
Ap1s1	T	C	5: 137,070,633 (GRCm39)	Y94C	possibly damaging	Het
Arhgap32	T	C	9: 32,158,793 (GRCm39)	I186T	probably damaging	Het
Atg4a	A	G	X: 139,890,984 (GRCm39)	I91V	probably benign	Het
Atp7b	T	G	8: 22,488,282 (GRCm39)	T1102P	probably damaging	Het
Cabs1	T	C	5: 88,128,074 (GRCm39)	S242P	probably damaging	Het
Cass4	T	C	2: 172,269,390 (GRCm39)	F493L	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cdk14	T	A	5: 4,938,924 (GRCm39)	M433L	probably benign	Het
Cep162	C	A	9: 87,088,967 (GRCm39)	D972Y	probably damaging	Het
Cfap100	C	G	6: 90,390,802 (GRCm39)	R184P	possibly damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,320,510 (GRCm39)		probably benign	Het
Copb1	T	A	7: 113,853,110 (GRCm39)	D29V	possibly damaging	Het
Cyp2b9	G	A	7: 25,873,030 (GRCm39)		probably null	Het
Dhx36	C	T	3: 62,385,064 (GRCm39)	G683S	probably damaging	Het
Dnaaf11	T	A	15: 66,309,436 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,838,301 (GRCm39)	I1110N	probably damaging	Het
Dnajc3	C	G	14: 119,210,114 (GRCm39)	P322A	probably benign	Het
Eml4	A	G	17: 83,785,189 (GRCm39)	T785A	probably damaging	Het
Fam228a	T	C	12: 4,787,775 (GRCm39)		probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 22,453,533 (GRCm39)	L296Q	possibly damaging	Het
Fat1	A	G	8: 45,403,408 (GRCm39)	Y53C	probably damaging	Het
Fcrl2	T	C	3: 87,166,928 (GRCm39)	I22V	probably damaging	Het
Fryl	T	A	5: 73,230,187 (GRCm39)	N1657Y	possibly damaging	Het
Greb1l	A	G	18: 10,503,307 (GRCm39)	M453V	possibly damaging	Het
Grm8	A	T	6: 27,760,224 (GRCm39)	C369S	probably damaging	Het
Hdc	G	A	2: 126,458,000 (GRCm39)		probably null	Het
Hsf3	A	T	X: 95,363,928 (GRCm39)	L191*	probably null	Het
Iqca1l	C	T	5: 24,757,038 (GRCm39)		probably benign	Het
Lat2	T	C	5: 134,631,481 (GRCm39)	D191G	probably damaging	Het
Lipt2	C	T	7: 99,808,601 (GRCm39)	T38I	probably benign	Het
Lmo7	T	C	14: 102,137,566 (GRCm39)	L634P	probably damaging	Het
Magea2	A	T	X: 153,810,855 (GRCm39)	L243Q	probably damaging	Het
Mctp2	A	G	7: 71,835,568 (GRCm39)	L543P	probably damaging	Het
Mgat4a	T	C	1: 37,529,394 (GRCm39)	N24D	probably benign	Het
Mical3	A	T	6: 121,010,696 (GRCm39)	S429T	possibly damaging	Het
Mrps35	A	G	6: 146,972,125 (GRCm39)	E256G	possibly damaging	Het
Mybbp1a	T	A	11: 72,337,021 (GRCm39)	S586T	probably benign	Het
Myo1e	G	A	9: 70,285,655 (GRCm39)		probably null	Het
Nob1	A	G	8: 108,143,729 (GRCm39)		probably benign	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Nphs1	A	T	7: 30,167,417 (GRCm39)	I782F	possibly damaging	Het
Numa1	A	G	7: 101,649,998 (GRCm39)	E1243G	probably damaging	Het
Or52e7	A	G	7: 104,685,026 (GRCm39)	Y207C	probably benign	Het
Or7g27	A	G	9: 19,249,789 (GRCm39)	E11G	probably benign	Het
Padi4	G	A	4: 140,487,251 (GRCm39)	T217I	possibly damaging	Het
Pias3	C	T	3: 96,606,962 (GRCm39)	T75I	probably benign	Het
Ppp1r37	G	T	7: 19,295,943 (GRCm39)		probably benign	Het
Prrc2a	G	A	17: 35,380,044 (GRCm39)	P185L	unknown	Het
Prss57	C	T	10: 79,623,204 (GRCm39)	C81Y	probably damaging	Het
Psen1	C	T	12: 83,761,594 (GRCm39)	S132L	probably damaging	Het
Ranbp6	A	G	19: 29,788,949 (GRCm39)	S468P	possibly damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc2a9	T	C	5: 38,610,542 (GRCm39)	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,036,742 (GRCm39)	M555K	probably benign	Het
Thoc1	C	A	18: 9,993,466 (GRCm39)	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,469,030 (GRCm39)	Y562*	probably null	Het
Tmem121b	A	G	6: 120,469,032 (GRCm39)	Y562H	probably damaging	Het
Tmprss7	A	T	16: 45,506,696 (GRCm39)	M122K	possibly damaging	Het
Tmub1	C	A	5: 24,651,922 (GRCm39)	G14V	possibly damaging	Het
Uap1	A	T	1: 169,986,312 (GRCm39)		probably benign	Het
Ugdh	A	T	5: 65,574,458 (GRCm39)		probably benign	Het
Vmn2r59	A	T	7: 41,661,669 (GRCm39)	C715*	probably null	Het
Vps13a	G	A	19: 16,659,538 (GRCm39)	T1663I	possibly damaging	Het
Vps13c	A	C	9: 67,860,228 (GRCm39)	I2815L	possibly damaging	Het
Zc3h3	G	T	15: 75,711,415 (GRCm39)	Q349K	possibly damaging	Het

Other mutations in Kif4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Kif4	APN	X	99,681,960 (GRCm39)	missense	probably benign	0.05
IGL02195:Kif4	APN	X	99,769,822 (GRCm39)	missense	probably damaging	1.00
R1398:Kif4	UTSW	X	99,732,703 (GRCm39)	missense	probably benign	0.00
R2114:Kif4	UTSW	X	99,709,323 (GRCm39)	missense	probably benign	0.26
R2115:Kif4	UTSW	X	99,709,323 (GRCm39)	missense	probably benign	0.26
R2117:Kif4	UTSW	X	99,709,323 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- AGAGCATGTGAAGCCCTATGG -3'
(R):5'- AGTGCACAGCAATATCTTTCCC -3'

Sequencing Primer
(F):5'- GGCTTCTCCAAACAGTAGCTG -3'
(R):5'- CCTTCTATCAGAGCTAATGCAGAAG -3'

Posted On

2014-10-16