Mutagenetix > Incidental Mutation

Incidental Mutation 'R2036:Kif22'

224649

Institutional Source

Beutler Lab

Gene Symbol

Kif22

Ensembl Gene

ENSMUSG00000030677

Gene Name

kinesin family member 22

Synonyms

Kid, Kif22a

MMRRC Submission

040043-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126626901-126641639 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126630126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 470 (V470E)

Ref Sequence

ENSEMBL: ENSMUSP00000032915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032915] [ENSMUST00000032916] [ENSMUST00000205461] [ENSMUST00000205568] [ENSMUST00000205806] [ENSMUST00000206254] [ENSMUST00000206291]

AlphaFold

Q3V300

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032915
AA Change: V470E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032915
Gene: ENSMUSG00000030677
AA Change: V470E

Domain	Start	End	E-Value	Type
KISc	36	371	1.12e-140	SMART
low complexity region	399	428	N/A	INTRINSIC
coiled coil region	460	496	N/A	INTRINSIC
HhH1	597	616	2.16e0	SMART
HhH1	627	646	8.65e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032916

SMART Domains

Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678

Domain	Start	End	E-Value	Type
low complexity region	59	82	N/A	INTRINSIC
low complexity region	90	126	N/A	INTRINSIC
low complexity region	130	179	N/A	INTRINSIC
ZnF_C2H2	190	212	4.11e-2	SMART
low complexity region	231	272	N/A	INTRINSIC
ZnF_C2H2	279	301	6.78e-3	SMART
ZnF_C2H2	307	329	4.87e-4	SMART
ZnF_C2H2	337	360	1.22e-4	SMART
ZnF_C2H2	366	388	1.79e-2	SMART
ZnF_C2H2	392	413	6.57e0	SMART
low complexity region	435	451	N/A	INTRINSIC
low complexity region	465	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205461

Predicted Effect

probably benign
Transcript: ENSMUST00000205568

Predicted Effect

probably benign
Transcript: ENSMUST00000205754

Predicted Effect

probably benign
Transcript: ENSMUST00000205806

Predicted Effect

probably benign
Transcript: ENSMUST00000206254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206412

Predicted Effect

probably benign
Transcript: ENSMUST00000206291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206924

Meta Mutation Damage Score

0.3377

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (58/58)

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 member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality prior to implantation due to defective meiosis II and early embryo mitosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415H17Rik	C	T	11: 99,576,358 (GRCm39)	C3Y	unknown	Het
Abr	G	T	11: 76,343,176 (GRCm39)	T547K	probably benign	Het
Akr1c21	T	C	13: 4,626,305 (GRCm39)	Y110H	probably damaging	Het
Ankar	T	A	1: 72,705,689 (GRCm39)	K556*	probably null	Het
Anks1b	T	C	10: 90,805,715 (GRCm39)	V431A	probably damaging	Het
Ap5b1	T	C	19: 5,618,897 (GRCm39)	S106P	possibly damaging	Het
Arhgap17	T	C	7: 122,917,717 (GRCm39)	N156D	possibly damaging	Het
Arhgap35	T	C	7: 16,297,058 (GRCm39)	E669G	probably damaging	Het
Arhgap44	T	C	11: 64,932,318 (GRCm39)	M201V	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	C	T	4: 99,106,376 (GRCm39)	T112M	possibly damaging	Het
Bcl11a	A	T	11: 24,114,087 (GRCm39)	N477Y	possibly damaging	Het
Brinp3	A	T	1: 146,577,579 (GRCm39)	I205F	possibly damaging	Het
Capza2	T	C	6: 17,660,777 (GRCm39)	F159S	probably damaging	Het
Cd40	T	C	2: 164,904,221 (GRCm39)	C61R	probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdh23	A	G	10: 60,301,822 (GRCm39)	I415T	possibly damaging	Het
Clnk	A	T	5: 38,910,143 (GRCm39)		probably null	Het
Ctcfl	C	T	2: 172,943,778 (GRCm39)	R524Q	possibly damaging	Het
Cyb5r4	T	G	9: 86,924,932 (GRCm39)		probably benign	Het
Ddb1	T	A	19: 10,588,186 (GRCm39)		probably benign	Het
Ddx51	C	A	5: 110,804,491 (GRCm39)	Q526K	probably benign	Het
Dennd6a	A	T	14: 26,329,274 (GRCm39)	Q56L	probably damaging	Het
Dhdds	T	C	4: 133,698,410 (GRCm39)	E142G	probably damaging	Het
Dnai1	A	G	4: 41,632,225 (GRCm39)	H553R	probably damaging	Het
Fryl	T	C	5: 73,179,887 (GRCm39)	N2908S	probably benign	Het
Fryl	C	A	5: 73,265,305 (GRCm39)		probably null	Het
Fut9	A	G	4: 25,620,322 (GRCm39)	I164T	probably damaging	Het
Gba2	G	A	4: 43,568,118 (GRCm39)		probably benign	Het
Gm11627	C	T	11: 102,467,580 (GRCm39)	V33I	unknown	Het
Helz2	T	A	2: 180,879,272 (GRCm39)	H782L	probably benign	Het
Kcnmb3	A	G	3: 32,526,531 (GRCm39)	V220A	probably damaging	Het
Kif20a	T	C	18: 34,761,515 (GRCm39)	S303P	possibly damaging	Het
Majin	C	T	19: 6,263,342 (GRCm39)	T132M	probably benign	Het
Mboat7	A	G	7: 3,688,671 (GRCm39)		probably null	Het
Mkrn2	C	A	6: 115,588,875 (GRCm39)	P206Q	probably benign	Het
Mphosph9	G	A	5: 124,442,274 (GRCm39)	T358M	probably damaging	Het
Nkd1	A	G	8: 89,318,305 (GRCm39)	D210G	probably damaging	Het
Or4c110	C	T	2: 88,831,976 (GRCm39)	V219I	probably damaging	Het
Or4k41	T	A	2: 111,279,971 (GRCm39)	L162Q	possibly damaging	Het
Or5ae2	G	T	7: 84,505,566 (GRCm39)		probably benign	Het
Or5b95	G	C	19: 12,658,165 (GRCm39)	G231A	probably damaging	Het
Or5p69	T	A	7: 107,966,947 (GRCm39)	N83K	probably benign	Het
Or6c35	G	A	10: 129,169,541 (GRCm39)	D264N	probably benign	Het
Or9s15	A	T	1: 92,524,328 (GRCm39)	E29V	probably benign	Het
Pi4ka	A	G	16: 17,120,976 (GRCm39)	Y63H	probably damaging	Het
Plekha1	A	G	7: 130,503,922 (GRCm39)	R210G	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,748 (GRCm39)	T369I	possibly damaging	Het
Relch	A	G	1: 105,670,979 (GRCm39)	D1029G	probably damaging	Het
Rmnd1	T	C	10: 4,357,884 (GRCm39)	D12G	probably damaging	Het
Rtn2	A	G	7: 19,027,664 (GRCm39)	K120E	probably damaging	Het
Sh3tc1	A	G	5: 35,873,508 (GRCm39)	S30P	probably benign	Het
Tln2	T	C	9: 67,179,986 (GRCm39)	E795G	possibly damaging	Het
Tmprss11d	T	A	5: 86,457,128 (GRCm39)	Y177F	probably damaging	Het
Trrap	C	A	5: 144,765,372 (GRCm39)	D2529E	probably benign	Het
Vmn2r58	A	G	7: 41,513,417 (GRCm39)	Y409H	probably benign	Het
Wdr72	T	A	9: 74,058,876 (GRCm39)	V323D	probably damaging	Het

Other mutations in Kif22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:Kif22	APN	7	126,632,645 (GRCm39)	missense	probably damaging	0.96
IGL01333:Kif22	APN	7	126,633,367 (GRCm39)	missense	probably damaging	1.00
R0207:Kif22	UTSW	7	126,641,572 (GRCm39)	start codon destroyed	probably null	0.73
R0723:Kif22	UTSW	7	126,633,078 (GRCm39)	missense	probably damaging	1.00
R1118:Kif22	UTSW	7	126,631,916 (GRCm39)	missense	probably benign
R1521:Kif22	UTSW	7	126,627,011 (GRCm39)	missense	probably damaging	0.99
R2092:Kif22	UTSW	7	126,632,802 (GRCm39)	missense	probably damaging	0.99
R3790:Kif22	UTSW	7	126,628,668 (GRCm39)	missense	probably damaging	1.00
R4587:Kif22	UTSW	7	126,632,052 (GRCm39)	critical splice donor site	probably null
R4667:Kif22	UTSW	7	126,632,500 (GRCm39)	missense	probably damaging	1.00
R5082:Kif22	UTSW	7	126,632,549 (GRCm39)	missense	possibly damaging	0.71
R5853:Kif22	UTSW	7	126,632,539 (GRCm39)	missense	possibly damaging	0.92
R6045:Kif22	UTSW	7	126,630,250 (GRCm39)	missense	probably benign	0.00
R6175:Kif22	UTSW	7	126,630,228 (GRCm39)	missense	possibly damaging	0.53
R6195:Kif22	UTSW	7	126,628,131 (GRCm39)	missense	probably damaging	0.99
R6407:Kif22	UTSW	7	126,632,375 (GRCm39)	missense	probably damaging	1.00
R6416:Kif22	UTSW	7	126,628,104 (GRCm39)	missense	possibly damaging	0.95
R6561:Kif22	UTSW	7	126,630,225 (GRCm39)	missense	probably benign	0.38
R7122:Kif22	UTSW	7	126,632,150 (GRCm39)	missense	probably benign	0.01
R7644:Kif22	UTSW	7	126,632,134 (GRCm39)	missense	probably damaging	1.00
R8143:Kif22	UTSW	7	126,632,397 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTCAGTCATGTTAAGTGC -3'
(R):5'- TGCACCAAGTTAAGGTATGACAAG -3'

Sequencing Primer
(F):5'- TGATTCCACCAATATGGGGC -3'
(R):5'- CCAAGTTAAGGTATGACAAGGGTTG -3'

Posted On

2014-08-25