Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00795:Kif18a'

12695

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00795

Quality Score

Status

Chromosome

Chromosomal Location

109111165-109172094 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109123365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 213 (N213I)

Ref Sequence

ENSEMBL: ENSMUSP00000028527 (fasta)

Gene Model

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

AlphaFold

Q91WD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028527
AA Change: N213I

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

SMART Domains

Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115
AA Change: N213I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162515

Coding Region Coverage

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,153 (GRCm39)	R50G	probably damaging	Het
Ap1m1	A	G	8: 73,007,353 (GRCm39)	N308S	probably damaging	Het
Bub1	A	G	2: 127,663,735 (GRCm39)	V222A	probably benign	Het
Ccdc91	G	T	6: 147,409,305 (GRCm39)	D4Y	probably damaging	Het
Defb21	A	G	2: 152,416,665 (GRCm39)	D47G	probably benign	Het
Dnah17	C	A	11: 117,984,460 (GRCm39)	C1607F	probably benign	Het
Hycc2	C	T	1: 58,591,338 (GRCm39)	E102K	probably damaging	Het
Insc	T	C	7: 114,441,389 (GRCm39)	L401P	probably damaging	Het
Mapre1	A	G	2: 153,588,234 (GRCm39)	D19G	probably damaging	Het
Mettl8	A	T	2: 70,812,434 (GRCm39)	I32N	probably damaging	Het
Mroh9	T	A	1: 162,888,191 (GRCm39)	T295S	probably damaging	Het
Pum3	T	A	19: 27,399,758 (GRCm39)	Y225F	probably damaging	Het
Tas2r131	G	A	6: 132,934,554 (GRCm39)	T85I	possibly damaging	Het
Tbcd	T	G	11: 121,507,758 (GRCm39)	I1193S	probably benign	Het
Tgoln1	C	T	6: 72,593,235 (GRCm39)	A82T	probably benign	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
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
R3609:Kif18a	UTSW	2	109,168,941 (GRCm39)	missense	probably benign	0.02
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

Posted On

2012-12-06