Mutagenetix > Incidental Mutation

Incidental Mutation 'R3609:Kif18a'

269181

Institutional Source

Beutler Lab

Gene Symbol

Kif18a

Ensembl Gene

ENSMUSG00000027115

Gene Name

kinesin family member 18A

Synonyms

gcd2, N-8 kinesin, B130001M12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3609 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109111165-109172094 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109168941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 833 (D833A)

Ref Sequence

ENSEMBL: ENSMUSP00000028527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028527]

AlphaFold

Q91WD7

Predicted Effect

probably benign
Transcript: ENSMUST00000028527
AA Change: D833A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115
AA Change: D833A

Domain	Start	End	E-Value	Type
KISc	9	363	8.91e-158	SMART
Blast:KISc	382	433	1e-14	BLAST

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for loss of function alleles exhibit reduced female fertility and male infertility due to primordial germ cell depletion. The sterility phenotype is incompletely penetrant, has variable expressivity, and is modulated by strain background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifc	A	T	10: 85,836,502 (GRCm39)	M1K	probably null	Het
Cc2d2a	A	T	5: 43,869,668 (GRCm39)	E856D	probably damaging	Het
Ces1c	A	T	8: 93,846,960 (GRCm39)	I98N	probably damaging	Het
Clec4b1	T	A	6: 123,027,591 (GRCm39)	L16Q	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dop1b	A	G	16: 93,536,220 (GRCm39)	Y106C	probably damaging	Het
Irak3	G	T	10: 119,981,582 (GRCm39)	T441K	possibly damaging	Het
Lypd8l	G	A	11: 58,503,384 (GRCm39)	T48I	possibly damaging	Het
Morc2b	A	G	17: 33,355,252 (GRCm39)	V840A	probably damaging	Het
Or4a47	A	G	2: 89,665,420 (GRCm39)	S290P	probably damaging	Het
Or5al1	G	A	2: 85,989,976 (GRCm39)	T246I	probably benign	Het
Or5p57	A	G	7: 107,665,576 (GRCm39)	F143S	probably damaging	Het
Or8k23	G	C	2: 86,185,826 (GRCm39)	A300G	probably damaging	Het
Pgap6	G	A	17: 26,337,860 (GRCm39)	V415I	probably benign	Het
Rest	A	C	5: 77,430,647 (GRCm39)	N1022T	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Tsc2	A	C	17: 24,841,524 (GRCm39)	I365S	possibly damaging	Het
Ttn	C	T	2: 76,589,603 (GRCm39)	R21217H	probably damaging	Het
Vim	A	T	2: 13,583,437 (GRCm39)	H253L	possibly damaging	Het
Vmn2r71	T	A	7: 85,268,870 (GRCm39)	C358S	probably damaging	Het

Other mutations in Kif18a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Kif18a	APN	2	109,148,333 (GRCm39)	missense	possibly damaging	0.93
IGL00795:Kif18a	APN	2	109,123,365 (GRCm39)	missense	probably damaging	1.00
IGL00904:Kif18a	APN	2	109,122,471 (GRCm39)	missense	probably damaging	1.00
IGL00990:Kif18a	APN	2	109,164,767 (GRCm39)	missense	probably benign	0.01
IGL01323:Kif18a	APN	2	109,128,787 (GRCm39)	missense	probably benign	0.02
IGL01382:Kif18a	APN	2	109,127,111 (GRCm39)	nonsense	probably null
IGL02205:Kif18a	APN	2	109,137,363 (GRCm39)	splice site	probably benign
IGL02207:Kif18a	APN	2	109,127,052 (GRCm39)	missense	probably damaging	0.99
IGL02970:Kif18a	APN	2	109,118,233 (GRCm39)	missense	probably damaging	1.00
IGL03087:Kif18a	APN	2	109,148,462 (GRCm39)	splice site	probably benign
R0030:Kif18a	UTSW	2	109,163,663 (GRCm39)	missense	probably benign
R0482:Kif18a	UTSW	2	109,118,188 (GRCm39)	start codon destroyed	probably null	1.00
R0631:Kif18a	UTSW	2	109,128,667 (GRCm39)	splice site	probably benign
R1597:Kif18a	UTSW	2	109,123,336 (GRCm39)	missense	probably damaging	1.00
R1640:Kif18a	UTSW	2	109,120,161 (GRCm39)	missense	probably benign	0.25
R1675:Kif18a	UTSW	2	109,128,748 (GRCm39)	missense	probably benign
R1723:Kif18a	UTSW	2	109,133,227 (GRCm39)	missense	probably damaging	1.00
R2141:Kif18a	UTSW	2	109,163,848 (GRCm39)	missense	probably benign	0.43
R2142:Kif18a	UTSW	2	109,163,848 (GRCm39)	missense	probably benign	0.43
R2243:Kif18a	UTSW	2	109,128,452 (GRCm39)	missense	probably damaging	1.00
R3611:Kif18a	UTSW	2	109,168,941 (GRCm39)	missense	probably benign	0.02
R3882:Kif18a	UTSW	2	109,137,319 (GRCm39)	missense	probably benign	0.01
R4292:Kif18a	UTSW	2	109,128,471 (GRCm39)	missense	probably damaging	0.99
R4293:Kif18a	UTSW	2	109,123,398 (GRCm39)	missense	probably benign
R4294:Kif18a	UTSW	2	109,123,398 (GRCm39)	missense	probably benign
R4295:Kif18a	UTSW	2	109,123,398 (GRCm39)	missense	probably benign
R4428:Kif18a	UTSW	2	109,118,466 (GRCm39)	missense	probably damaging	1.00
R4791:Kif18a	UTSW	2	109,118,220 (GRCm39)	missense	probably benign	0.16
R4819:Kif18a	UTSW	2	109,122,471 (GRCm39)	missense	probably damaging	1.00
R5078:Kif18a	UTSW	2	109,125,487 (GRCm39)	splice site	probably benign
R5175:Kif18a	UTSW	2	109,133,323 (GRCm39)	splice site	probably null
R5319:Kif18a	UTSW	2	109,148,370 (GRCm39)	missense	probably benign	0.00
R5821:Kif18a	UTSW	2	109,120,190 (GRCm39)	splice site	probably benign
R5966:Kif18a	UTSW	2	109,122,411 (GRCm39)	missense	probably damaging	1.00
R6886:Kif18a	UTSW	2	109,127,008 (GRCm39)	missense	probably damaging	1.00
R7069:Kif18a	UTSW	2	109,125,347 (GRCm39)	missense	probably damaging	0.99
R7765:Kif18a	UTSW	2	109,137,285 (GRCm39)	missense	probably benign	0.00
R7801:Kif18a	UTSW	2	109,118,190 (GRCm39)	missense	probably damaging	0.99
R7834:Kif18a	UTSW	2	109,127,119 (GRCm39)	missense	probably damaging	1.00
R8442:Kif18a	UTSW	2	109,125,318 (GRCm39)	missense	possibly damaging	0.68
R8510:Kif18a	UTSW	2	109,127,109 (GRCm39)	missense	probably damaging	1.00
R8782:Kif18a	UTSW	2	109,127,118 (GRCm39)	missense	probably damaging	1.00
R8936:Kif18a	UTSW	2	109,163,966 (GRCm39)	missense	probably benign	0.00
R9014:Kif18a	UTSW	2	109,123,414 (GRCm39)	missense	probably damaging	1.00
R9135:Kif18a	UTSW	2	109,171,506 (GRCm39)	missense	possibly damaging	0.90
R9246:Kif18a	UTSW	2	109,163,819 (GRCm39)	missense	probably benign
R9483:Kif18a	UTSW	2	109,120,032 (GRCm39)	missense	probably damaging	1.00
R9512:Kif18a	UTSW	2	109,171,517 (GRCm39)	missense	probably benign	0.11
R9644:Kif18a	UTSW	2	109,171,517 (GRCm39)	missense	probably benign	0.11
R9721:Kif18a	UTSW	2	109,123,400 (GRCm39)	missense	probably damaging	1.00
R9727:Kif18a	UTSW	2	109,118,464 (GRCm39)	missense	probably damaging	1.00
Z1176:Kif18a	UTSW	2	109,148,398 (GRCm39)	missense	possibly damaging	0.63
Z1177:Kif18a	UTSW	2	109,125,302 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTACACAACTGCTACCTGGAC -3'
(R):5'- CTGCCACAATATATTAAGGGAGATG -3'

Sequencing Primer
(F):5'- AACTGCTACCTGGACCCTGTC -3'
(R):5'- GACATACCCACTTTCAGTCT -3'

Posted On

2015-02-19